Cell atlas - C2CD3 - The Human Protein Atlas

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C2CD3

TISSUE

CELL

CANCER

CELL ATLAS RNA EXPRESSION HUMAN CELLS MOUSE CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Microtubule organizing center
	Nucleus

Human cell
	Centrosome
	Nucleoplasm

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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
Summary	Localized to the nucleus & microtubule organizing center.
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Localized to the Nucleus (approved), Microtubule organizing center (approved)

DATA RELIABILITY
Reliability score	Approved based on 1 antibody. HPA040433
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Localized to the nucleus & microtubule organizing center.

Main location

Nucleus (approved), Microtubule organizing center (approved)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA040433	RH-30	Nucleus
	HPA040433	RH-30	Microtubule organizing center
	HPA040433	U-2 OS	No staining
	HPA040433	U-251 MG	Nucleus

MOUSE CELLS

Main location

Not available

Mouse gene

ENSMUSG00000047248 (version 83)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location
	HPA040433	NIH 3T3	No staining

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 Show all	Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	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] Show all	1963 aa 218.1 kDa	No	0
C2CD3-003 ENSP00000445933 ENST00000539061	F5H0U2 [Direct mapping] C2 domain-containing protein 3 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		506 aa 56.3 kDa	No	0
C2CD3-005 ENSP00000388750 ENST00000414160	H7BZB4 [Direct mapping] C2 domain-containing protein 3 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] Show all	776 aa 86.3 kDa	No	0
C2CD3-007 ENSP00000439343 ENST00000535954	H0YFM6 [Direct mapping] C2 domain-containing protein 3 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		191 aa 21.3 kDa	No	0
C2CD3-016 ENSP00000441742 ENST00000538361	H0YG44 [Direct mapping] C2 domain-containing protein 3 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		171 aa 18.7 kDa	No	0
C2CD3-201 ENSP00000334379 ENST00000334126	Q4AC94 [Direct mapping] C2 domain-containing protein 3 Show all	Predicted intracellular proteins Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	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] Show all	2353 aa 260.4 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

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