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Entry version 177 (16 Oct 2019)
Sequence version 3 (28 Jul 2009)
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Protein

SH3 and multiple ankyrin repeat domains protein 2

Gene

SHANK2

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

Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors, and the actin-based cytoskeleton. May play a role in the structural and functional organization of the dendritic spine and synaptic junction.

<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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6794361 Neurexins and neuroligins

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q9UPX8

<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:
SH3 and multiple ankyrin repeat domains protein 2
Short name:
Shank2
Alternative name(s):
Cortactin-binding protein 1
Short name:
CortBP1
Proline-rich synapse-associated protein 1
<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:SHANK2
Synonyms:CORTBP1, KIAA1022, PROSAP1
<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 11

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:14295 SHANK2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603290 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9UPX8

<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

<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>Keywords - Cellular componenti

Cell junction, Cell membrane, Cell projection, Cytoplasm, Membrane, Postsynaptic cell membrane, Synapse

<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

Autism 17 (AUTS17)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation.
Related information in OMIM

Keywords - Diseasei

Autism, Autism spectrum disorder

Organism-specific databases

DisGeNET

More...
DisGeNETi
22941

MalaCards human disease database

More...
MalaCardsi
SHANK2
MIMi613436 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000162105

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

More...
Orphaneti
106 NON RARE IN EUROPE: Autism

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA37867

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9UPX8

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SHANK2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
254763402

<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_00001746731 – 1470SH3 and multiple ankyrin repeat domains protein 2Add BLAST1470

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 residuei452PhosphoserineBy similarity1
Modified residuei481PhosphothreonineBy similarity1
Modified residuei581PhosphoserineBy similarity1
Modified residuei720PhosphoserineBy similarity1
Modified residuei899PhosphothreonineBy 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>Glycosylationi1288O-linked (GlcNAc) threonineBy similarity1
Modified residuei1330PhosphoserineBy similarity1
Modified residuei1334PhosphoserineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9UPX8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9UPX8

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

More...
PaxDbi
Q9UPX8

PeptideAtlas

More...
PeptideAtlasi
Q9UPX8

PRoteomics IDEntifications database

More...
PRIDEi
Q9UPX8

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
85467 [Q9UPX8-1]
85468 [Q9UPX8-2]
85469 [Q9UPX8-3]
85470 [Q9UPX8-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9UPX8

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

More...
PhosphoSitePlusi
Q9UPX8

<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

Isoform 3 is present in epithelial colonic cells (at protein level).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000162105 Expressed in 180 organ(s), highest expression level in dorsolateral prefrontal cortex

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9UPX8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9UPX8 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA008174

<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

Is part of a complex with DLG4/PSD-95 and DLGAP1/GKAP.

Interacts with CTTN/cortactin SH3 domain, DLGAP1/GKAP and alpha-latrotoxin receptor 1.

Interacts with DNM2, DBNL, GRID2, BAIAP2, SLC9A3, PLCB3 and CFTR.

Interacts (via proline-rich region) with PDE4D.

Interacts with ABI1 (via SH3 domain).

3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
116598, 23 interactors

Database of interacting proteins

More...
DIPi
DIP-52255N

Protein interaction database and analysis system

More...
IntActi
Q9UPX8, 18 interactors

Molecular INTeraction database

More...
MINTi
Q9UPX8

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000469689

<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

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SMRi
Q9UPX8

Database of comparative protein structure models

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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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini147 – 206SH3PROSITE-ProRule annotationAdd BLAST60
Domaini247 – 341PDZPROSITE-ProRule annotationAdd BLAST95
Domaini1407 – 1470SAMPROSITE-ProRule annotationAdd BLAST64

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi948 – 954SH3-bindingSequence analysis7

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi509 – 535Pro-richAdd BLAST27

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The PDZ domain is required for interaction with GRID2, PLCB3, CFTR and SLC9A3.By similarity

<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 SHANK family.Curated

Keywords - Domaini

SH3 domain, SH3-binding

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0504 Eukaryota
KOG4375 Eukaryota
COG0666 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000153561

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000293276

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9UPX8

KEGG Orthology (KO)

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KOi
K15009

Identification of Orthologs from Complete Genome Data

More...
OMAi
QDENGWH

Database of Orthologous Groups

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OrthoDBi
36120at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9UPX8

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.150.50, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001478 PDZ
IPR041489 PDZ_6
IPR036034 PDZ_sf
IPR001660 SAM
IPR013761 SAM/pointed_sf
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF17820 PDZ_6, 1 hit
PF00536 SAM_1, 1 hit
PF07653 SH3_2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00228 PDZ, 1 hit
SM00454 SAM, 1 hit
SM00326 SH3, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47769 SSF47769, 1 hit
SSF50044 SSF50044, 1 hit
SSF50156 SSF50156, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50106 PDZ, 1 hit
PS50105 SAM_DOMAIN, 1 hit
PS50002 SH3, 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 (4+)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 4 <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
Note: Additional isoforms seem to exist.

This entry has 4 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UPX8-1) [UniParc]FASTAAdd to basket
Also known as: A

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
MKSLLNAFTK KEVPFREAPA YSNRRRRPPN TLAAPRVLLR SNSDNNLNAS
60 70 80 90 100
APDWAVCSTA TSHRSLSPQL LQQMPSKPEG AAKTIGSYVP GPRSRSPSLN
110 120 130 140 150
RLGGAGEDGK RPQPLWHVGS PFALGANKDS LSAFEYPGPK RKLYSAVPGR
160 170 180 190 200
LFVAVKPYQP QVDGEIPLHR GDRVKVLSIG EGGFWEGSAR GHIGWFPAEC
210 220 230 240 250
VEEVQCKPRD SQAETRADRS KKLFRHYTVG SYDSFDTSSD CIIEEKTVVL
260 270 280 290 300
QKKDNEGFGF VLRGAKADTP IEEFTPTPAF PALQYLESVD EGGVAWQAGL
310 320 330 340 350
RTGDFLIEVN NENVVKVGHR QVVNMIRQGG NHLVLKVVTV TRNLDPDDTA
360 370 380 390 400
RKKAPPPPKR APTTALTLRS KSMTSELEEL VDKASVRKKK DKPEEIVPAS
410 420 430 440 450
KPSRAAENMA VEPRVATIKQ RPSSRCFPAG SDMNSVYERQ GIAVMTPTVP
460 470 480 490 500
GSPKAPFLGI PRGTMRRQKS IDSRIFLSGI TEEERQFLAP PMLKFTRSLS
510 520 530 540 550
MPDTSEDIPP PPQSVPPSPP PPSPTTYNCP KSPTPRVYGT IKPAFNQNSA
560 570 580 590 600
AKVSPATRSD TVATMMREKG MYFRRELDRY SLDSEDLYSR NAGPQANFRN
610 620 630 640 650
KRGQMPENPY SEVGKIASKA VYVPAKPARR KGMLVKQSNV EDSPEKTCSI
660 670 680 690 700
PIPTIIVKEP STSSSGKSSQ GSSMEIDPQA PEPPSQLRPD ESLTVSSPFA
710 720 730 740 750
AAIAGAVRDR EKRLEARRNS PAFLSTDLGD EDVGLGPPAP RTRPSMFPEE
760 770 780 790 800
GDFADEDSAE QLSSPMPSAT PREPENHFVG GAEASAPGEA GRPLNSTSKA
810 820 830 840 850
QGPESSPAVP SASSGTAGPG NYVHPLTGRL LDPSSPLALA LSARDRAMKE
860 870 880 890 900
SQQGPKGEAP KADLNKPLYI DTKMRPSLDA GFPTVTRQNT RGPLRRQETE
910 920 930 940 950
NKYETDLGRD RKGDDKKNML IDIMDTSQQK SAGLLMVHTV DATKLDNALQ
960 970 980 990 1000
EEDEKAEVEM KPDSSPSEVP EGVSETEGAL QISAAPEPTT VPGRTIVAVG
1010 1020 1030 1040 1050
SMEEAVILPF RIPPPPLASV DLDEDFIFTE PLPPPLEFAN SFDIPDDRAA
1060 1070 1080 1090 1100
SVPALSDLVK QKKSDTPQSP SLNSSQPTNS ADSKKPASLS NCLPASFLPP
1110 1120 1130 1140 1150
PESFDAVADS GIEEVDSRSS SDHHLETTST ISTVSSISTL SSEGGENVDT
1160 1170 1180 1190 1200
CTVYADGQAF MVDKPPVPPK PKMKPIIHKS NALYQDALVE EDVDSFVIPP
1210 1220 1230 1240 1250
PAPPPPPGSA QPGMAKVLQP RTSKLWGDVT EIKSPILSGP KANVISELNS
1260 1270 1280 1290 1300
ILQQMNREKL AKPGEGLDSP MGAKSASLAP RSPEIMSTIS GTRSTTVTFT
1310 1320 1330 1340 1350
VRPGTSQPIT LQSRPPDYES RTSGTRRAPS PVVSPTEMNK ETLPAPLSAA
1360 1370 1380 1390 1400
TASPSPALSD VFSLPSQPPS GDLFGLNPAG RSRSPSPSIL QQPISNKPFT
1410 1420 1430 1440 1450
TKPVHLWTKP DVADWLESLN LGEHKEAFMD NEIDGSHLPN LQKEDLIDLG
1460 1470
VTRVGHRMNI ERALKQLLDR
Length:1,470
Mass (Da):158,822
Last modified:July 28, 2009 - 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:i7322993CB9FE0929
GO
Isoform 2 (identifier: Q9UPX8-2) [UniParc]FASTAAdd to basket
Also known as: C

The sequence of this isoform differs from the canonical sequence as follows:
     1-237: Missing.
     238-238: S → MMMNVPGGGAAAVMMTGYNNGRCPRNSLY
     472-490: DSRIFLSGITEEERQFLAP → GKKCGTPPQKLPLGFQTQP
     491-1470: Missing.

Show »
Length:281
Mass (Da):30,564
Checksum:iBD2ECD1A98B92FF4
GO
Isoform 3 (identifier: Q9UPX8-3) [UniParc]FASTAAdd to basket
Also known as: E

The sequence of this isoform differs from the canonical sequence as follows:
     1-12: MKSLLNAFTKKE → MPRSPTSSED...YIKNHKETDI

Note: Contains 6 ANK repeats at positions 196-226, 230-259, 263-293, 297-326, 330-359, 363-393.
Show »
Length:1,849
Mass (Da):201,261
Checksum:i45550DC5D5701399
GO
Isoform 4 (identifier: Q9UPX8-4) [UniParc]FASTAAdd to basket
Also known as: B

The sequence of this isoform differs from the canonical sequence as follows:
     1-237: Missing.
     238-238: S → MMMNVPGGGAAAVMMTGYNNGRCPRNSLY
     383-389: Missing.

Show »
Length:1,254
Mass (Da):134,931
Checksum:iF9D53FB165A65E0A
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 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A6NHU9A6NHU9_HUMAN
SH3 and multiple ankyrin repeat dom...
SHANK2
1,261Annotation score:

Annotation score:3 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>
H7C1X5H7C1X5_HUMAN
SH3 and multiple ankyrin repeat dom...
SHANK2
1,128Annotation 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>
E7EUA2E7EUA2_HUMAN
SH3 and multiple ankyrin repeat dom...
SHANK2
1,253Annotation 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>
A0A0A0MSQ6A0A0A0MSQ6_HUMAN
SH3 and multiple ankyrin repeat dom...
SHANK2
1,261Annotation 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>
C9JFP8C9JFP8_HUMAN
SH3 and multiple ankyrin repeat dom...
SHANK2
126Annotation 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>
E7EX50E7EX50_HUMAN
SH3 and multiple ankyrin repeat dom...
SHANK2
244Annotation 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>
H0Y7S5H0Y7S5_HUMAN
SH3 and multiple ankyrin repeat dom...
SHANK2
257Annotation 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>
A0A2R8Y2H5A0A2R8Y2H5_HUMAN
SH3 and multiple ankyrin repeat dom...
SHANK2
185Annotation 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>
H7BZV1H7BZV1_HUMAN
SH3 and multiple ankyrin repeat dom...
SHANK2
153Annotation 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>
A0A087X158A0A087X158_HUMAN
SH3 and multiple ankyrin repeat dom...
SHANK2
74Annotation 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>

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_0377931 – 237Missing in isoform 2 and isoform 4. 1 PublicationAdd BLAST237
Alternative sequenceiVSP_0377941 – 12MKSLL…FTKKE → MPRSPTSSEDEMAQSFSDYS VGSESDSSKEETIYDTIRAT AEKPGGARTEESQGNTLVIR VVIHDLQQTKCIRFNPDATV WVAKQRILCTLTQSLKDVLN YGLFQPASNGRDGKFLDEER LLREYPQPVGEGVPSLEFRY KKRVYKQASLDEKQLAKLHT KTNLKKCMDHIQHRLVEKIT KMLDRGLDPNFHDPETGETP LTLAAQLDDSVEVIKALKNG GAHLDFRAKDGMTALHKAAR ARNQVALKTLLELGASPDYK DSYGLTPLYHTAIVGGDPYC CELLLHEHATVCCKDENGWH EIHQACRYGHVQHLEHLLFY GADMSAQNASGNTALHICAL YNQDSCARVLLFRGGNKELK NYNSQTPFQVAIIAGNFELA EYIKNHKETDI in isoform 3. 2 PublicationsAdd BLAST12
Alternative sequenceiVSP_037795238S → MMMNVPGGGAAAVMMTGYNN GRCPRNSLY in isoform 2 and isoform 4. 1 Publication1
Alternative sequenceiVSP_037796383 – 389Missing in isoform 4. Curated7
Alternative sequenceiVSP_037797472 – 490DSRIF…QFLAP → GKKCGTPPQKLPLGFQTQP in isoform 2. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_037798491 – 1470Missing in isoform 2. 1 PublicationAdd BLAST980

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB208025 mRNA Translation: BAH37016.1
AB208026 mRNA Translation: BAH37017.1
AP000590 Genomic DNA No translation available.
AP001271 Genomic DNA No translation available.
AP003783 Genomic DNA No translation available.
AP005401 Genomic DNA No translation available.
BC093885 mRNA Translation: AAH93885.1
BC112097 mRNA Translation: AAI12098.1
DQ152234 mRNA Translation: AAZ77790.1
AB028945 mRNA Translation: BAA82974.1
AF141901 mRNA Translation: AAF02496.1

NCBI Reference Sequences

More...
RefSeqi
NP_036441.2, NM_012309.4 [Q9UPX8-3]
NP_573573.2, NM_133266.4
XP_005277989.1, XM_005277932.3 [Q9UPX8-1]
XP_016872876.1, XM_017017387.1 [Q9UPX8-3]
XP_016872877.1, XM_017017388.1 [Q9UPX8-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000601538; ENSP00000469689; ENSG00000162105 [Q9UPX8-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
22941

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:22941

UCSC genome browser

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UCSCi
uc058etm.1 human [Q9UPX8-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AB208025 mRNA Translation: BAH37016.1
AB208026 mRNA Translation: BAH37017.1
AP000590 Genomic DNA No translation available.
AP001271 Genomic DNA No translation available.
AP003783 Genomic DNA No translation available.
AP005401 Genomic DNA No translation available.
BC093885 mRNA Translation: AAH93885.1
BC112097 mRNA Translation: AAI12098.1
DQ152234 mRNA Translation: AAZ77790.1
AB028945 mRNA Translation: BAA82974.1
AF141901 mRNA Translation: AAF02496.1
RefSeqiNP_036441.2, NM_012309.4 [Q9UPX8-3]
NP_573573.2, NM_133266.4
XP_005277989.1, XM_005277932.3 [Q9UPX8-1]
XP_016872876.1, XM_017017387.1 [Q9UPX8-3]
XP_016872877.1, XM_017017388.1 [Q9UPX8-3]

3D structure databases

SMRiQ9UPX8
ModBaseiSearch...

Protein-protein interaction databases

BioGridi116598, 23 interactors
DIPiDIP-52255N
IntActiQ9UPX8, 18 interactors
MINTiQ9UPX8
STRINGi9606.ENSP00000469689

PTM databases

iPTMnetiQ9UPX8
PhosphoSitePlusiQ9UPX8

Polymorphism and mutation databases

BioMutaiSHANK2
DMDMi254763402

Proteomic databases

jPOSTiQ9UPX8
MassIVEiQ9UPX8
PaxDbiQ9UPX8
PeptideAtlasiQ9UPX8
PRIDEiQ9UPX8
ProteomicsDBi85467 [Q9UPX8-1]
85468 [Q9UPX8-2]
85469 [Q9UPX8-3]
85470 [Q9UPX8-4]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
22941

Genome annotation databases

EnsembliENST00000601538; ENSP00000469689; ENSG00000162105 [Q9UPX8-3]
GeneIDi22941
KEGGihsa:22941
UCSCiuc058etm.1 human [Q9UPX8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
22941
DisGeNETi22941

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SHANK2
HGNCiHGNC:14295 SHANK2
HPAiHPA008174
MalaCardsiSHANK2
MIMi603290 gene
613436 phenotype
neXtProtiNX_Q9UPX8
OpenTargetsiENSG00000162105
Orphaneti106 NON RARE IN EUROPE: Autism
PharmGKBiPA37867

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0504 Eukaryota
KOG4375 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00940000153561
HOGENOMiHOG000293276
InParanoidiQ9UPX8
KOiK15009
OMAiQDENGWH
OrthoDBi36120at2759
PhylomeDBiQ9UPX8

Enzyme and pathway databases

ReactomeiR-HSA-6794361 Neurexins and neuroligins
SignaLinkiQ9UPX8

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
SHANK2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
SHANK2

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

More...
GenomeRNAii
22941
PharosiQ9UPX8

Protein Ontology

More...
PROi
PR:Q9UPX8

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000162105 Expressed in 180 organ(s), highest expression level in dorsolateral prefrontal cortex
ExpressionAtlasiQ9UPX8 baseline and differential
GenevisibleiQ9UPX8 HS

Family and domain databases

Gene3Di1.10.150.50, 1 hit
InterProiView protein in InterPro
IPR001478 PDZ
IPR041489 PDZ_6
IPR036034 PDZ_sf
IPR001660 SAM
IPR013761 SAM/pointed_sf
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
PfamiView protein in Pfam
PF17820 PDZ_6, 1 hit
PF00536 SAM_1, 1 hit
PF07653 SH3_2, 1 hit
SMARTiView protein in SMART
SM00228 PDZ, 1 hit
SM00454 SAM, 1 hit
SM00326 SH3, 1 hit
SUPFAMiSSF47769 SSF47769, 1 hit
SSF50044 SSF50044, 1 hit
SSF50156 SSF50156, 1 hit
PROSITEiView protein in PROSITE
PS50106 PDZ, 1 hit
PS50105 SAM_DOMAIN, 1 hit
PS50002 SH3, 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 nameiSHAN2_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: Q9UPX8
Secondary accession number(s): C0SPG8
, C0SPG9, Q3Y8G9, Q52LK2, Q9UKP1
<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: July 26, 2002
Last sequence update: July 28, 2009
Last modified: October 16, 2019
This is version 177 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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