Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 113 (18 Sep 2019)
Sequence version 4 (30 Nov 2010)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

C2 domain-containing protein 3

Gene

C2CD3

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

Component of the centrioles that acts as a positive regulator of centriole elongation (PubMed:24997988). Promotes assembly of centriolar distal appendage, a structure at the distal end of the mother centriole that acts as an anchor of the cilium, and is required for recruitment of centriolar distal appendages proteins CEP83, SCLT1, CEP89, FBF1 and CEP164. Not required for centriolar satellite integrity or RAB8 activation. Required for primary cilium formation (PubMed:23769972). Required for sonic hedgehog/SHH signaling and for proteolytic processing of GLI3.2 Publications

<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 - 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 processCilium biogenesis/degradation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5620912 Anchoring of the basal body to the plasma membrane

<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:
C2 domain-containing protein 3
<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:C2CD3
<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:24564 C2CD3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
615944 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q4AC94

<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

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

<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

Orofaciodigital syndrome 14 (OFD14)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD14 patients show severe microcephaly, cerebral malformations the molar tooth sign, and intellectual disability in addition to canonical OFDS features.
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_0711961029C → G in OFD14. 1 PublicationCorresponds to variant dbSNP:rs587777654EnsemblClinVar.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
26005

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
C2CD3

MalaCards human disease database

More...
MalaCardsi
C2CD3
MIMi615948 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000168014

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

More...
Orphaneti
434179 Orofaciodigital syndrome type 14

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162379082

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
C2CD3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
313104297

<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_00003112391 – 2353C2 domain-containing protein 3Add BLAST2353

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 residuei466PhosphoserineBy similarity1
Modified residuei728PhosphoserineCombined sources1
Modified residuei1891PhosphoserineCombined sources1
Modified residuei2114PhosphoserineCombined sources1
Modified residuei2132PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q4AC94

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q4AC94

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q4AC94

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

More...
PaxDbi
Q4AC94

PeptideAtlas

More...
PeptideAtlasi
Q4AC94

PRoteomics IDEntifications database

More...
PRIDEi
Q4AC94

ProteomicsDB human proteome resource

More...
ProteomicsDBi
62084 [Q4AC94-5]
62085 [Q4AC94-1]
62086 [Q4AC94-2]
62087 [Q4AC94-3]
62088 [Q4AC94-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q4AC94

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

More...
PhosphoSitePlusi
Q4AC94

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000168014 Expressed in 213 organ(s), highest expression level in amniotic fluid

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q4AC94 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q4AC94 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA038552
HPA038553
HPA040433

<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

Interacts with IFT88, BBS4 and PCM1 (By similarity).

Interacts with OFD1; OFD1 may act as a negative regulator of C2CD3. Associates with the BBSome complex.

By similarity1 Publication

<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

WithEntry#Exp.IntActNotes
OFD1O756653EBI-10897521,EBI-716327

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
117480, 19 interactors

Protein interaction database and analysis system

More...
IntActi
Q4AC94, 22 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000334379

<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>Domaini1163 – 1289C2 1Add BLAST127
Domaini1622 – 1728C2 2Add BLAST107

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IDYN Eukaryota
ENOG410XNN4 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00510000048072

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q4AC94

KEGG Orthology (KO)

More...
KOi
K16751

Identification of Orthologs from Complete Genome Data

More...
OMAi
RYKFYDH

Database of Orthologous Groups

More...
OrthoDBi
88005at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q4AC94

TreeFam database of animal gene trees

More...
TreeFami
TF323591

Family and domain databases

Conserved Domains Database

More...
CDDi
cd08683 C2_C2cd3, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.40.150, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR037775 C2_C2CD3
IPR000008 C2_dom
IPR035892 C2_domain_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00168 C2, 3 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00239 C2, 5 hits

<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 (5+)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 5 <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 5 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 5 (identifier: Q4AC94-5) [UniParc]FASTAAdd to basket

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
MKQRKGQGSG GSRGRKKRGL SDISPSTSLP PLVEGQLRCF LKLTVNRVIW
60 70 80 90 100
KIAKPPTCVL VRVRWWGETS DGTLFCPRDA LQTEPKAVRT TTRYAIRCGP
110 120 130 140 150
KQFTSYLTDM AVLVLEVITK LDGLPIGRVQ INGLAQLSPT HQINGFFTIV
160 170 180 190 200
SSTSKKLGEL QVSLALEPLS ETYDSYHPLP TTDMTENVLL SKQGFRENTE
210 220 230 240 250
PSSTQFQVPS RPRDIHTIKI DGKELAANSS RSTTPRGKDH VCFAENPDTI
260 270 280 290 300
KDSSFGLQHS LNSGQSLESV TLKGRAPRKQ MSLLNSSEFQ PQIRTVAKSH
310 320 330 340 350
SDSCILSSNN LPTKDLLSAL LEQGNKLRNA MVISAMKSSP ETSMLLDQVH
360 370 380 390 400
PPINEDSLRA STQIRAFSRN RFKDHIEDHL LPSTENTFWR HDTKADTRAI
410 420 430 440 450
QLLLGSAELS QGNFWDGLGS PPDSPSPGSD VYCISELNDP QYDQSLLENL
460 470 480 490 500
FYTAPKSDTS ISDFLSEEDD IVPSKKISQS TALARSSKVL ESSDHKLKKR
510 520 530 540 550
SAGKRNRNLV EQQMLSETPE DAQTMTLSVD RLALLGRTHS VRIIIETMGV
560 570 580 590 600
PPDSPQMTPG KKSYAGPPPK VTTAKKRTFF VEYHFPVGFS ESGLGKTALI
610 620 630 640 650
TEVVRLASSK ITDGKVKFQQ RFVFPVQFGG PMIEHWWNSN LTFQIYVKKT
660 670 680 690 700
PQKKPEVIGS VSLSLRAVIQ SELLSFSDQL PVQQENGQSP FGPLKVTMEL
710 720 730 740 750
ITDNKDFTGI NTKLSGNTHY TPLCAPTSPN KALPELNQDM TCTKNPQNLN
760 770 780 790 800
QIHEETAKKA QNLVLPNRKS PSPVAPHPST FVATPASHNL VNQTNGTTKE
810 820 830 840 850
SALLLHVLLM VPDGKDFISG ESEKQSPCNV YLNCKLFSTE EVTRSVIAWG
860 870 880 890 900
TTQPVFNFSQ VIPVSLSSKY LERLKNNVMV IETWNKVRSP GQDKLLGLVK
910 920 930 940 950
LPLHQFYMSF KDAKISRLLL DAQYPVVAVD SYMPVIDVFS GHQNGSLRVF
960 970 980 990 1000
LAMGSSNQIM ALQRLKNEEG TLPPFSPRPA HFLDQPTAAS VAMAEDRGNG
1010 1020 1030 1040 1050
LMEHCFEIHI EMVKGLAPLQ ATVWGEADCY VQYYFPVQHS QSSVLKGPEF
1060 1070 1080 1090 1100
LENGITLKPF RTATTLCVPD PIFNSEHHHS LLLPAEVPVQ RLLLSAFSAQ
1110 1120 1130 1140 1150
GLVPGGGVQF EIWCRYYYPN VRDQKVAKGT LPLSRICAMV TTQHREDVGI
1160 1170 1180 1190 1200
QTFNLPLTPR IENRKELRNQ SSGLLDVGLR YRRSPRTAEG VLAARTVSIS
1210 1220 1230 1240 1250
VQIIRACGLQ AAAKALAERE PALQFSATVG VNASVTTHLS FLPQGEQRRT
1260 1270 1280 1290 1300
HPVACSFCPE FSHHVEFTCN LVTQHCSGEA CFLAELLEFA EVIFAVYHEN
1310 1320 1330 1340 1350
TKSASDIISI ESCKEYLLGV VKVPTKELLI KRSGITGWYP IILPEDGGLP
1360 1370 1380 1390 1400
HGLELMQKIV GGLELSISFT HRGDRERVLE AAEHLGWSFE NSLKDFVRMD
1410 1420 1430 1440 1450
EGEPATVTIS TPRLWLPIHC VLLAGHNHIH KNTYCYLRYK FYDHEAFWTP
1460 1470 1480 1490 1500
LKKPKESVNK KQIMVTFKAS KRAEVTRGPS LLWYFREERL EIQVWRAYGN
1510 1520 1530 1540 1550
DSVERPHQTD SWIGSAYVDL ARLGERSART LTVSGVYPLF GRNASNLSGA
1560 1570 1580 1590 1600
ALRVHVVLSS LSSHLEPTHE LDSMDCSSHS ESEQLPRRND EVQLSPPEVI
1610 1620 1630 1640 1650
SCHQKSPAST QVPCSSTTAE VRLTQEGPAD LDGTFAVSIL VERAMHLSLK
1660 1670 1680 1690 1700
GSPLTERKVS IPSCCVSFAT ADESSPVYTQ VVENTDSPIW NFQQQSRLSK
1710 1720 1730 1740 1750
ELLLDPQQTL VFKVWHKGDE ERVIGFASVD LSPLLSGFQF VCGWYNITDF
1760 1770 1780 1790 1800
SGECQGQIKV AVSPLESLIH FKEERQARRG VETSKSLIPI YSPFSFPASD
1810 1820 1830 1840 1850
TYAAFSSHMA RQTLDQLAHA SSKELDFSSP GRSDTTRSQA SRHEEHVQNI
1860 1870 1880 1890 1900
RRFHESLHLQ GEAPLPCDDK LTTSPLSSQT SILTSLRKNL SELDQIQRYF
1910 1920 1930 1940 1950
RQKLTKPFLP LSPQTQTAIS QHQESCRDHL GPGASSLDPG SQCILEKSSN
1960 1970 1980 1990 2000
LVLQVSSLIT DLQTITRDSQ AALSSHRARS RSNKATTLPD AQDTEALQER
2010 2020 2030 2040 2050
CTMPDEPLVR APDKGTDSPS PPPLEETSNG GRMLHESLRH AVPITRMQSS
2060 2070 2080 2090 2100
EDTEAGPAYS DEDYEEDIIE PRTLNEITTV TDKTSPWSSV ISDTSEVISP
2110 2120 2130 2140 2150
QPDEVQREGP SCPSPGPFCR EELMVKSSFL SSPERAVNPH LPRQGSPSQS
2160 2170 2180 2190 2200
LVACECEASK ARVGGESASA NPQPIPCPTL SGAQQSSTFV GWSSPQTDQN
2210 2220 2230 2240 2250
KEPKSEAPAE NEAATSELGD SADSFKKLPL NLASQSRREN HKGPPIDSSD
2260 2270 2280 2290 2300
IRQRQVTTGS ETSTKQSLLL PGPIVVPNFF LPPQQLEASL RMLSLSATLP
2310 2320 2330 2340 2350
PAATTDQDKS EATRGALSQR PCRPRPNSLP LNLPEEETLR IARIFSSQYS

QKD
Length:2,353
Mass (Da):260,389
Last modified:November 30, 2010 - v4
<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:iD559291AEB1B0DA1
GO
Isoform 1 (identifier: Q4AC94-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1961-1963: DLQ → GSY
     1964-2353: Missing.

Show »
Length:1,963
Mass (Da):218,127
Checksum:i15816217019D71F1
GO
Isoform 2 (identifier: Q4AC94-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1364-1382: Missing.
     1881-1908: SILTSLRKNLSELDQIQRYFRQKLTKPF → PEAWRRGDCLMWYRGSWRASGFGKKKT
     1909-2353: Missing.

Note: No experimental confirmation available.
Show »
Length:1,888
Mass (Da):210,003
Checksum:i71350B1DD1B5624D
GO
Isoform 3 (identifier: Q4AC94-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1961-1968: DLQTITRD → LPAPNDS
     1969-2353: Missing.

Note: No experimental confirmation available.
Show »
Length:1,967
Mass (Da):218,515
Checksum:i74C3147FB303BD47
GO
Isoform 4 (identifier: Q4AC94-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1888-1921: KNLSELDQIQRYFRQKLTKPFLPLSPQTQTAISQ → SSPSLSYPSALRLKRPSHSTRRAVGTILGQVPAA
     1922-2353: Missing.

Note: No experimental confirmation available.
Show »
Length:1,921
Mass (Da):213,274
Checksum:iD7EEDBB5AD2F9102
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7BZB4H7BZB4_HUMAN
C2 domain-containing protein 3
C2CD3
776Annotation 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>
H7C288H7C288_HUMAN
C2 domain-containing protein 3
C2CD3
677Annotation 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>
H0YG44H0YG44_HUMAN
C2 domain-containing protein 3
C2CD3
171Annotation 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>
F5H0U2F5H0U2_HUMAN
C2 domain-containing protein 3
C2CD3
506Annotation 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>
H0YFM6H0YFM6_HUMAN
C2 domain-containing protein 3
C2CD3
191Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAC03654 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC86334 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 conflicti143I → T in BAE17137 (Ref. 1) Curated1
Sequence conflicti740M → V in BAE17137 (Ref. 1) Curated1
Sequence conflicti846V → A in AAI10509 (PubMed:15489334).Curated1
Sequence conflicti1141T → A in BAE17137 (Ref. 1) Curated1
Sequence conflicti1351H → R in BAE17137 (Ref. 1) Curated1
Sequence conflicti1417P → S in BAE17137 (Ref. 1) Curated1
Sequence conflicti1625Q → R in BAC86334 (Ref. 1) Curated1
Sequence conflicti1777A → E in BAC86334 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037181773P → R. Corresponds to variant dbSNP:rs34050666Ensembl.1
Natural variantiVAR_037182997R → Q1 PublicationCorresponds to variant dbSNP:rs11235995Ensembl.1
Natural variantiVAR_0711961029C → G in OFD14. 1 PublicationCorresponds to variant dbSNP:rs587777654EnsemblClinVar.1
Natural variantiVAR_0371831219R → Q3 PublicationsCorresponds to variant dbSNP:rs826058Ensembl.1
Natural variantiVAR_0371841297Y → C. Corresponds to variant dbSNP:rs1095423Ensembl.1
Natural variantiVAR_0371851663S → N. Corresponds to variant dbSNP:rs12419308Ensembl.1
Natural variantiVAR_0756971743G → C1 PublicationCorresponds to variant dbSNP:rs1064793399EnsemblClinVar.1
Natural variantiVAR_0371861831G → W. Corresponds to variant dbSNP:rs1632245Ensembl.1
Natural variantiVAR_0371871832R → G. Corresponds to variant dbSNP:rs1632242Ensembl.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_0294441364 – 1382Missing in isoform 2. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_0294451881 – 1908SILTS…LTKPF → PEAWRRGDCLMWYRGSWRAS GFGKKKT in isoform 2. 1 PublicationAdd BLAST28
Alternative sequenceiVSP_0294461888 – 1921KNLSE…TAISQ → SSPSLSYPSALRLKRPSHST RRAVGTILGQVPAA in isoform 4. 1 PublicationAdd BLAST34
Alternative sequenceiVSP_0294471909 – 2353Missing in isoform 2. 1 PublicationAdd BLAST445
Alternative sequenceiVSP_0346761922 – 2353Missing in isoform 4. 1 PublicationAdd BLAST432
Alternative sequenceiVSP_0294481961 – 1968DLQTITRD → LPAPNDS in isoform 3. 1 Publication8
Alternative sequenceiVSP_0346771961 – 1963DLQ → GSY in isoform 1. 3 Publications3
Alternative sequenceiVSP_0346781964 – 2353Missing in isoform 1. 3 PublicationsAdd BLAST390
Alternative sequenceiVSP_0346791969 – 2353Missing in isoform 3. 1 PublicationAdd BLAST385

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
AB231763 mRNA Translation: BAE46898.1
AB231764 mRNA Translation: BAE17137.1
AP000577 Genomic DNA No translation available.
AP002392 Genomic DNA No translation available.
AP003717 Genomic DNA No translation available.
AK091397 mRNA Translation: BAC03654.1 Different initiation.
AK125894 mRNA Translation: BAC86334.1 Different initiation.
BC035599 mRNA Translation: AAH35599.1
BC110508 mRNA Translation: AAI10509.1
AL080220 mRNA Translation: CAB45779.1
AL833903 mRNA Translation: CAD38759.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS31636.1 [Q4AC94-1]
CCDS66167.1 [Q4AC94-5]

Protein sequence database of the Protein Information Resource

More...
PIRi
T12555

NCBI Reference Sequences

More...
RefSeqi
NP_001273506.1, NM_001286577.1 [Q4AC94-5]
NP_056346.3, NM_015531.5 [Q4AC94-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000313663; ENSP00000323339; ENSG00000168014 [Q4AC94-1]
ENST00000334126; ENSP00000334379; ENSG00000168014 [Q4AC94-5]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
26005

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:26005

UCSC genome browser

More...
UCSCi
uc001ouu.4 human [Q4AC94-5]

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
AB231763 mRNA Translation: BAE46898.1
AB231764 mRNA Translation: BAE17137.1
AP000577 Genomic DNA No translation available.
AP002392 Genomic DNA No translation available.
AP003717 Genomic DNA No translation available.
AK091397 mRNA Translation: BAC03654.1 Different initiation.
AK125894 mRNA Translation: BAC86334.1 Different initiation.
BC035599 mRNA Translation: AAH35599.1
BC110508 mRNA Translation: AAI10509.1
AL080220 mRNA Translation: CAB45779.1
AL833903 mRNA Translation: CAD38759.1
CCDSiCCDS31636.1 [Q4AC94-1]
CCDS66167.1 [Q4AC94-5]
PIRiT12555
RefSeqiNP_001273506.1, NM_001286577.1 [Q4AC94-5]
NP_056346.3, NM_015531.5 [Q4AC94-1]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi117480, 19 interactors
IntActiQ4AC94, 22 interactors
STRINGi9606.ENSP00000334379

PTM databases

iPTMnetiQ4AC94
PhosphoSitePlusiQ4AC94

Polymorphism and mutation databases

BioMutaiC2CD3
DMDMi313104297

Proteomic databases

EPDiQ4AC94
jPOSTiQ4AC94
MassIVEiQ4AC94
PaxDbiQ4AC94
PeptideAtlasiQ4AC94
PRIDEiQ4AC94
ProteomicsDBi62084 [Q4AC94-5]
62085 [Q4AC94-1]
62086 [Q4AC94-2]
62087 [Q4AC94-3]
62088 [Q4AC94-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000313663; ENSP00000323339; ENSG00000168014 [Q4AC94-1]
ENST00000334126; ENSP00000334379; ENSG00000168014 [Q4AC94-5]
GeneIDi26005
KEGGihsa:26005
UCSCiuc001ouu.4 human [Q4AC94-5]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
26005
DisGeNETi26005

GeneCards: human genes, protein and diseases

More...
GeneCardsi
C2CD3
GeneReviewsiC2CD3
HGNCiHGNC:24564 C2CD3
HPAiHPA038552
HPA038553
HPA040433
MalaCardsiC2CD3
MIMi615944 gene
615948 phenotype
neXtProtiNX_Q4AC94
OpenTargetsiENSG00000168014
Orphaneti434179 Orofaciodigital syndrome type 14
PharmGKBiPA162379082

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IDYN Eukaryota
ENOG410XNN4 LUCA
GeneTreeiENSGT00510000048072
InParanoidiQ4AC94
KOiK16751
OMAiRYKFYDH
OrthoDBi88005at2759
PhylomeDBiQ4AC94
TreeFamiTF323591

Enzyme and pathway databases

ReactomeiR-HSA-5620912 Anchoring of the basal body to the plasma membrane

Miscellaneous databases

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

More...
ChiTaRSi
C2CD3 human

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

More...
GenomeRNAii
26005

Pharos

More...
Pharosi
Q4AC94

Protein Ontology

More...
PROi
PR:Q4AC94

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000168014 Expressed in 213 organ(s), highest expression level in amniotic fluid
ExpressionAtlasiQ4AC94 baseline and differential
GenevisibleiQ4AC94 HS

Family and domain databases

CDDicd08683 C2_C2cd3, 1 hit
Gene3Di2.60.40.150, 2 hits
InterProiView protein in InterPro
IPR037775 C2_C2CD3
IPR000008 C2_dom
IPR035892 C2_domain_sf
PfamiView protein in Pfam
PF00168 C2, 3 hits
SMARTiView protein in SMART
SM00239 C2, 5 hits

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 nameiC2CD3_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: Q4AC94
Secondary accession number(s): C9JR55
, E2QRD1, Q2NLE1, Q3C1U9, Q6ZU92, Q8IYM4, Q8NB87, Q8NDH7, Q9Y4M2
<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: November 13, 2007
Last sequence update: November 30, 2010
Last modified: September 18, 2019
This is version 113 of the entry and version 4 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. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again