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Entry version 158 (31 Jul 2019)
Sequence version 3 (04 Dec 2007)
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Protein

Solute carrier family 12 member 5

Gene

SLC12A5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Mediates electroneutral potassium-chloride cotransport in mature neurons and is required for neuronal Cl- homeostasis. As major extruder of intracellular chloride, it establishes the low neuronal Cl- levels required for chloride influx after binding of GABA-A and glycine to their receptors, with subsequent hyperpolarization and neuronal inhibition (By similarity). Involved in the regulation of dendritic spine formation and maturation (PubMed:24668262).By similarity1 Publication

Miscellaneous

Inhibited by furosemide and bumetanide.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Inhibited by WNK3.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processIon transport, Potassium transport, Symport, Transport
LigandChloride, Potassium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-426117 Cation-coupled Chloride cotransporters

Protein family/group databases

Transport Classification Database

More...
TCDBi
2.A.30.1.18 the cation-chloride cotransporter (ccc) family
2.A.30.1.21 the cation-chloride cotransporter (ccc) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Solute carrier family 12 member 5
Alternative name(s):
Electroneutral potassium-chloride cotransporter 2
K-Cl cotransporter 2
Short name:
hKCC2
Neuronal K-Cl cotransporter
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SLC12A5
Synonyms:KCC2, KIAA1176
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 20

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:13818 SLC12A5

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606726 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H2X9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 133CytoplasmicSequence analysisAdd BLAST133
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei134 – 154HelicalSequence analysisAdd BLAST21
Transmembranei156 – 176HelicalSequence analysisAdd BLAST21
Topological domaini177 – 194CytoplasmicSequence analysisAdd BLAST18
Transmembranei195 – 215HelicalSequence analysisAdd BLAST21
Transmembranei217 – 237HelicalSequence analysisAdd BLAST21
Topological domaini238 – 254CytoplasmicSequence analysisAdd BLAST17
Transmembranei255 – 275HelicalSequence analysisAdd BLAST21
Transmembranei278 – 298HelicalSequence analysisAdd BLAST21
Topological domaini299 – 418CytoplasmicSequence analysisAdd BLAST120
Transmembranei419 – 439HelicalSequence analysisAdd BLAST21
Transmembranei459 – 479HelicalSequence analysisAdd BLAST21
Topological domaini480 – 496CytoplasmicSequence analysisAdd BLAST17
Transmembranei497 – 517HelicalSequence analysisAdd BLAST21
Transmembranei570 – 590HelicalSequence analysisAdd BLAST21
Topological domaini591 – 630CytoplasmicSequence analysisAdd BLAST40
Transmembranei631 – 651HelicalSequence analysisAdd BLAST21
Transmembranei848 – 868HelicalSequence analysisAdd BLAST21
Topological domaini869 – 1139CytoplasmicSequence analysisAdd BLAST271

Keywords - Cellular componenti

Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Epileptic encephalopathy, early infantile, 34 (EIEE34)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE34 is characterized by onset of refractory migrating focal seizures in infancy. Affected children show developmental regression and are severely impaired globally.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_075078311L → H in EIEE34; results in reduced chloride transport; decreased localization at the cell surface. 1 PublicationCorresponds to variant dbSNP:rs863225306Ensembl.1
Natural variantiVAR_075079426L → P in EIEE34; results in loss of chloride transport; decreased localization at the cell surface. 1 PublicationCorresponds to variant dbSNP:rs863225304Ensembl.1
Natural variantiVAR_075080551G → D in EIEE34; results in loss of chloride transport; decreased localization at the cell surface. 1 PublicationCorresponds to variant dbSNP:rs863225305Ensembl.1
Epilepsy, idiopathic generalized 14 (EIG14)3 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075081975R → H in EIG14; rare variant associated with disease susceptibility; results in reduced chloride transport; decreased localization at the cell surface; unable to induce cortical dendritic spines formation. 3 PublicationsCorresponds to variant dbSNP:rs142740233Ensembl.1
Natural variantiVAR_0750831072R → C in EIG14; rare variant associated with disease susceptibility; results in reduced chloride transport. 2 PublicationsCorresponds to variant dbSNP:rs548424453EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

More...
DisGeNETi
57468

MalaCards human disease database

More...
MalaCardsi
SLC12A5
MIMi616645 phenotype
616685 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000124140

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
293181 Malignant migrating partial seizures of infancy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA37814

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL1615384

Drug and drug target database

More...
DrugBanki
DB00887 Bumetanide
DB00761 Potassium Chloride

IUPHAR/BPS Guide to PHARMACOLOGY

More...
GuidetoPHARMACOLOGYi
972

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SLC12A5

Domain mapping of disease mutations (DMDM)

More...
DMDMi
161784306

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001780341 – 1139Solute carrier family 12 member 5Add BLAST1139

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei57PhosphothreonineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi442N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi833N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei1045PhosphoserineBy similarity1
Modified residuei1048PhosphoserineBy similarity1
Modified residuei1049PhosphoserineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9H2X9

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9H2X9

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9H2X9

PeptideAtlas

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PeptideAtlasi
Q9H2X9

PRoteomics IDEntifications database

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PRIDEi
Q9H2X9

ProteomicsDB human proteome resource

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ProteomicsDBi
80632 [Q9H2X9-1]
80633 [Q9H2X9-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9H2X9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q9H2X9

SwissPalm database of S-palmitoylation events

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SwissPalmi
Q9H2X9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Brain specific. Detected in neuronal cells.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000124140 Expressed in 132 organ(s), highest expression level in caudate nucleus

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9H2X9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9H2X9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA072058

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homomultimer and heteromultimer with other K-Cl cotransporters.

Interacts with AP2A1 (By similarity).

By similarity

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
121538, 2 interactors

Protein interaction database and analysis system

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IntActi
Q9H2X9, 3 interactors

Molecular INTeraction database

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MINTi
Q9H2X9

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000387694

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q9H2X9

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9H2X9

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the SLC12A transporter family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2082 Eukaryota
COG0531 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000160827

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000092644

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9H2X9

KEGG Orthology (KO)

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KOi
K14427

Identification of Orthologs from Complete Genome Data

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OMAi
GPPRNRK

Database of Orthologous Groups

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OrthoDBi
349744at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9H2X9

TreeFam database of animal gene trees

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TreeFami
TF313657

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR004841 AA-permease/SLC12A_dom
IPR030358 KCC2
IPR000076 KCL_cotranspt
IPR018491 SLC12_C
IPR004842 SLC12A_fam

The PANTHER Classification System

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PANTHERi
PTHR11827:SF54 PTHR11827:SF54, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00324 AA_permease, 2 hits
PF03522 SLC12, 3 hits

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR01081 KCLTRNSPORT

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00930 2a30, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H2X9-1) [UniParc]FASTAAdd to basket
Also known as: KCC2a

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSRRFTVTSL PPAGPARSPD PESRRHSVAD PRHLPGEDVK GDGNPKESSP
60 70 80 90 100
FINSTDTEKG KEYDGKNMAL FEEEMDTSPM VSSLLSGLAN YTNLPQGSRE
110 120 130 140 150
HEEAENNEGG KKKPVQAPRM GTFMGVYLPC LQNIFGVILF LRLTWVVGIA
160 170 180 190 200
GIMESFCMVF ICCSCTMLTA ISMSAIATNG VVPAGGSYYM ISRSLGPEFG
210 220 230 240 250
GAVGLCFYLG TTFAGAMYIL GTIEILLAYL FPAMAIFKAE DASGEAAAML
260 270 280 290 300
NNMRVYGTCV LTCMATVVFV GVKYVNKFAL VFLGCVILSI LAIYAGVIKS
310 320 330 340 350
AFDPPNFPIC LLGNRTLSRH GFDVCAKLAW EGNETVTTRL WGLFCSSRFL
360 370 380 390 400
NATCDEYFTR NNVTEIQGIP GAASGLIKEN LWSSYLTKGV IVERSGMTSV
410 420 430 440 450
GLADGTPIDM DHPYVFSDMT SYFTLLVGIY FPSVTGIMAG SNRSGDLRDA
460 470 480 490 500
QKSIPTGTIL AIATTSAVYI SSVVLFGACI EGVVLRDKFG EAVNGNLVVG
510 520 530 540 550
TLAWPSPWVI VIGSFFSTCG AGLQSLTGAP RLLQAISRDG IVPFLQVFGH
560 570 580 590 600
GKANGEPTWA LLLTACICEI GILIASLDEV APILSMFFLM CYMFVNLACA
610 620 630 640 650
VQTLLRTPNW RPRFRYYHWT LSFLGMSLCL ALMFICSWYY ALVAMLIAGL
660 670 680 690 700
IYKYIEYRGA EKEWGDGIRG LSLSAARYAL LRLEEGPPHT KNWRPQLLVL
710 720 730 740 750
VRVDQDQNVV HPQLLSLTSQ LKAGKGLTIV GSVLEGTFLE NHPQAQRAEE
760 770 780 790 800
SIRRLMEAEK VKGFCQVVIS SNLRDGVSHL IQSGGLGGLQ HNTVLVGWPR
810 820 830 840 850
NWRQKEDHQT WRNFIELVRE TTAGHLALLV TKNVSMFPGN PERFSEGSID
860 870 880 890 900
VWWIVHDGGM LMLLPFLLRH HKVWRKCKMR IFTVAQMDDN SIQMKKDLTT
910 920 930 940 950
FLYHLRITAE VEVVEMHESD ISAYTYEKTL VMEQRSQILK QMHLTKNERE
960 970 980 990 1000
REIQSITDES RGSIRRKNPA NTRLRLNVPE ETAGDSEEKP EEEVQLIHDQ
1010 1020 1030 1040 1050
SAPSCPSSSP SPGEEPEGEG ETDPEKVHLT WTKDKSVAEK NKGPSPVSSE
1060 1070 1080 1090 1100
GIKDFFSMKP EWENLNQSNV RRMHTAVRLN EVIVKKSRDA KLVLLNMPGP
1110 1120 1130
PRNRNGDENY MEFLEVLTEH LDRVMLVRGG GREVITIYS
Length:1,139
Mass (Da):126,184
Last modified:December 4, 2007 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i100C097AF1FD4B3E
GO
Isoform 2 (identifier: Q9H2X9-2) [UniParc]FASTAAdd to basket
Also known as: KCC2b

The sequence of this isoform differs from the canonical sequence as follows:
     1-40: MSRRFTVTSLPPAGPARSPDPESRRHSVADPRHLPGEDVK → MLNNLTDCEDGDGGANP

Show »
Length:1,116
Mass (Da):123,511
Checksum:i68D46DECF8592FCF
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087X201A0A087X201_HUMAN
Solute carrier family 12 member 5
SLC12A5
459Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
V9GYL3V9GYL3_HUMAN
Solute carrier family 12 member 5
SLC12A5
123Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B7Z3T3B7Z3T3_HUMAN
Solute carrier family 12 member 5
SLC12A5
186Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M4PNB5M4PNB5_HUMAN
KCC2 transcript variant 3
SLC12A5
262Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M4PM71M4PM71_HUMAN
KCC2 transcript variant 7
SLC12A5
289Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M4PNC0M4PNC0_HUMAN
KCC2 transcript variant 8
SLC12A5
180Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SGA5A0A0D9SGA5_HUMAN
Solute carrier family 12 member 5
SLC12A5
67Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SF89A0A0D9SF89_HUMAN
Solute carrier family 12 member 5
SLC12A5
53Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SGD0A0A0D9SGD0_HUMAN
HCG1821261
SLC12A5 hCG_1821261
120Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SGF9A0A0D9SGF9_HUMAN
Solute carrier family 12 member 5
SLC12A5
58Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There is more potential isoformShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform 2 (identifier: Q9H2X9-2)
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti2L → P in AAG43493 (PubMed:12106695).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075078311L → H in EIEE34; results in reduced chloride transport; decreased localization at the cell surface. 1 PublicationCorresponds to variant dbSNP:rs863225306Ensembl.1
Natural variantiVAR_027414407P → A. Corresponds to variant dbSNP:rs16985442Ensembl.1
Natural variantiVAR_075079426L → P in EIEE34; results in loss of chloride transport; decreased localization at the cell surface. 1 PublicationCorresponds to variant dbSNP:rs863225304Ensembl.1
Natural variantiVAR_075080551G → D in EIEE34; results in loss of chloride transport; decreased localization at the cell surface. 1 PublicationCorresponds to variant dbSNP:rs863225305Ensembl.1
Natural variantiVAR_036557847G → D in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_075081975R → H in EIG14; rare variant associated with disease susceptibility; results in reduced chloride transport; decreased localization at the cell surface; unable to induce cortical dendritic spines formation. 3 PublicationsCorresponds to variant dbSNP:rs142740233Ensembl.1
Natural variantiVAR_0750821071R → W1 PublicationCorresponds to variant dbSNP:rs369042030Ensembl.1
Natural variantiVAR_0750831072R → C in EIG14; rare variant associated with disease susceptibility; results in reduced chloride transport. 2 PublicationsCorresponds to variant dbSNP:rs548424453EnsemblClinVar.1
Natural variantiVAR_0249941100P → L1 PublicationCorresponds to variant dbSNP:rs17297532Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0299091 – 40MSRRF…GEDVK → MLNNLTDCEDGDGGANP in isoform 2. 3 PublicationsAdd BLAST40

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF208159 mRNA Translation: AAG43493.1
AL162458 Genomic DNA No translation available.
BC132668 mRNA Translation: AAI32669.1
BC132670 mRNA Translation: AAI32671.1
AB033002 mRNA Translation: BAA86490.1
DA102113 mRNA No translation available.
DA328785 mRNA No translation available.

The Consensus CDS (CCDS) project

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CCDSi
CCDS13391.1 [Q9H2X9-2]
CCDS46610.1 [Q9H2X9-1]

NCBI Reference Sequences

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RefSeqi
NP_001128243.1, NM_001134771.1 [Q9H2X9-1]
NP_065759.1, NM_020708.4 [Q9H2X9-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000243964; ENSP00000243964; ENSG00000124140 [Q9H2X9-2]
ENST00000454036; ENSP00000387694; ENSG00000124140 [Q9H2X9-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
57468

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:57468

UCSC genome browser

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UCSCi
uc002xrb.3 human [Q9H2X9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF208159 mRNA Translation: AAG43493.1
AL162458 Genomic DNA No translation available.
BC132668 mRNA Translation: AAI32669.1
BC132670 mRNA Translation: AAI32671.1
AB033002 mRNA Translation: BAA86490.1
DA102113 mRNA No translation available.
DA328785 mRNA No translation available.
CCDSiCCDS13391.1 [Q9H2X9-2]
CCDS46610.1 [Q9H2X9-1]
RefSeqiNP_001128243.1, NM_001134771.1 [Q9H2X9-1]
NP_065759.1, NM_020708.4 [Q9H2X9-2]

3D structure databases

SMRiQ9H2X9
ModBaseiSearch...

Protein-protein interaction databases

BioGridi121538, 2 interactors
IntActiQ9H2X9, 3 interactors
MINTiQ9H2X9
STRINGi9606.ENSP00000387694

Chemistry databases

BindingDBiQ9H2X9
ChEMBLiCHEMBL1615384
DrugBankiDB00887 Bumetanide
DB00761 Potassium Chloride
GuidetoPHARMACOLOGYi972

Protein family/group databases

TCDBi2.A.30.1.18 the cation-chloride cotransporter (ccc) family
2.A.30.1.21 the cation-chloride cotransporter (ccc) family

PTM databases

iPTMnetiQ9H2X9
PhosphoSitePlusiQ9H2X9
SwissPalmiQ9H2X9

Polymorphism and mutation databases

BioMutaiSLC12A5
DMDMi161784306

Proteomic databases

jPOSTiQ9H2X9
MaxQBiQ9H2X9
PaxDbiQ9H2X9
PeptideAtlasiQ9H2X9
PRIDEiQ9H2X9
ProteomicsDBi80632 [Q9H2X9-1]
80633 [Q9H2X9-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000243964; ENSP00000243964; ENSG00000124140 [Q9H2X9-2]
ENST00000454036; ENSP00000387694; ENSG00000124140 [Q9H2X9-1]
GeneIDi57468
KEGGihsa:57468
UCSCiuc002xrb.3 human [Q9H2X9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
57468
DisGeNETi57468

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SLC12A5
HGNCiHGNC:13818 SLC12A5
HPAiHPA072058
MalaCardsiSLC12A5
MIMi606726 gene
616645 phenotype
616685 phenotype
neXtProtiNX_Q9H2X9
OpenTargetsiENSG00000124140
Orphaneti293181 Malignant migrating partial seizures of infancy
PharmGKBiPA37814

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2082 Eukaryota
COG0531 LUCA
GeneTreeiENSGT00940000160827
HOGENOMiHOG000092644
InParanoidiQ9H2X9
KOiK14427
OMAiGPPRNRK
OrthoDBi349744at2759
PhylomeDBiQ9H2X9
TreeFamiTF313657

Enzyme and pathway databases

ReactomeiR-HSA-426117 Cation-coupled Chloride cotransporters

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Chloride_potassium_symporter_5

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
57468

Protein Ontology

More...
PROi
PR:Q9H2X9

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000124140 Expressed in 132 organ(s), highest expression level in caudate nucleus
ExpressionAtlasiQ9H2X9 baseline and differential
GenevisibleiQ9H2X9 HS

Family and domain databases

InterProiView protein in InterPro
IPR004841 AA-permease/SLC12A_dom
IPR030358 KCC2
IPR000076 KCL_cotranspt
IPR018491 SLC12_C
IPR004842 SLC12A_fam
PANTHERiPTHR11827:SF54 PTHR11827:SF54, 1 hit
PfamiView protein in Pfam
PF00324 AA_permease, 2 hits
PF03522 SLC12, 3 hits
PRINTSiPR01081 KCLTRNSPORT
TIGRFAMsiTIGR00930 2a30, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiS12A5_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9H2X9
Secondary accession number(s): A2RTX2
, Q5VZ41, Q9H4Z0, Q9ULP4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 13, 2002
Last sequence update: December 4, 2007
Last modified: July 31, 2019
This is version 158 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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