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C2CD3

GENERAL INFORMATION

Gene name

 C2CD3

Gene description

 C2 calcium-dependent domain containing 3

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 6
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Expressed in all
HPA (cell line):Expressed in all
HPA (normal tissue):Mixed

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Granular cytoplasmic expression in most tissues.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Pending external verification.

Reliability score

 Approved based on 3 antibodies.
HPA038552 , HPA038553 , HPA040433
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PROGNOSTIC SUMMARY
Gene product is not prognostic.
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Expressed in all

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA038552
HPA038553
HPA040433

GENE INFORMATION

Gene name

 C2CD3 (HGNC Symbol)

Synonyms

 DKFZP586P0123

Description

 C2 calcium-dependent domain containing 3 (HGNC Symbol)

Entrez gene summary

 This gene encodes a protein that functions as a regulator of centriole elongation. Studies of the orthologous mouse protein show that it promotes centriolar distal appendage assembly and is also required for the recruitment of other ciliogenic proteins, including intraflagellar transport proteins. Mutations in this gene cause orofaciodigital syndrome XIV (OFD14), a ciliopathy resulting in malformations of the oral cavity, face and digits. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]

Chromosome

 11

Cytoband

 q13.4

Chromosome location (bp)

 74012714 - 74171210

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000168014 (version 83.38)

Entrez gene

 26005

UniProt

 Q4AC94 (UniProt - Evidence at protein level)

neXtProt

 NX_Q4AC94

Antibodypedia

 C2CD3 antibodies

PROTEIN BROWSER
C2CD3-001
C2CD3-003
C2CD3-005
C2CD3-007
C2CD3-016
C2CD3-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
C2CD3-001
ENSP00000323339
ENST00000313663
Q4AC94 [Direct mapping]
C2 domain-containing protein 3
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Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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GO:0005515 [protein binding]
GO:0005813 [centrosome]
GO:0005814 [centriole]
GO:0005829 [cytosol]
GO:0006996 [organelle organization]
GO:0034451 [centriolar satellite]
GO:0035058 [nonmotile primary cilium assembly]
GO:0061511 [centriole elongation]
GO:0071539 [protein localization to centrosome]
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 1963 aa
218.1 kDa 		No 0
C2CD3-003
ENSP00000445933
ENST00000539061
F5H0U2 [Direct mapping]
C2 domain-containing protein 3
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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 506 aa
56.3 kDa 		No 0
C2CD3-005
ENSP00000388750
ENST00000414160
H7BZB4 [Direct mapping]
C2 domain-containing protein 3
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0005515 [protein binding]
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 776 aa
86.3 kDa 		No 0
C2CD3-007
ENSP00000439343
ENST00000535954
H0YFM6 [Direct mapping]
C2 domain-containing protein 3
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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 191 aa
21.3 kDa 		No 0
C2CD3-016
ENSP00000441742
ENST00000538361
H0YG44 [Direct mapping]
C2 domain-containing protein 3
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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 171 aa
18.7 kDa 		No 0
C2CD3-201
ENSP00000334379
ENST00000334126
Q4AC94 [Direct mapping]
C2 domain-containing protein 3
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Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
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GO:0001701 [in utero embryonic development]
GO:0001947 [heart looping]
GO:0005515 [protein binding]
GO:0005813 [centrosome]
GO:0005814 [centriole]
GO:0005829 [cytosol]
GO:0006996 [organelle organization]
GO:0007389 [pattern specification process]
GO:0007420 [brain development]
GO:0008589 [regulation of smoothened signaling pathway]
GO:0016485 [protein processing]
GO:0021915 [neural tube development]
GO:0021997 [neural plate axis specification]
GO:0030162 [regulation of proteolysis]
GO:0030326 [embryonic limb morphogenesis]
GO:0034451 [centriolar satellite]
GO:0035058 [nonmotile primary cilium assembly]
GO:0036064 [ciliary basal body]
GO:0042384 [cilium assembly]
GO:0042733 [embryonic digit morphogenesis]
GO:0061511 [centriole elongation]
GO:0071539 [protein localization to centrosome]
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 2353 aa
260.4 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.