C2CD3 (C2 domain containing 3 centriole elongation regulator)

2014-08-01 Affiliation

Identity

HGNC

C2CD3

LOCATION

11q13.4

LOCUSID

26005

ALIAS

OFD14

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 26005
MIM: 615944
HGNC: 24564
Ensembl: ENSG00000168014

Variants:

dbSNP: 26005
ClinVar: 26005
TCGA: ENSG00000168014
COSMIC: C2CD3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000168014	ENST00000313663	Q4AC94
ENSG00000168014	ENST00000334126	Q4AC94
ENSG00000168014	ENST00000414160	H7BZB4
ENSG00000168014	ENST00000442398	H7C288
ENSG00000168014	ENST00000535954	H0YFM6
ENSG00000168014	ENST00000538361	H0YG44
ENSG00000168014	ENST00000539061	F5H0U2

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Organelle biogenesis and maintenance	REACTOME	R-HSA-1852241
Cilium Assembly	REACTOME	R-HSA-5617833
Anchoring of the basal body to the plasma membrane	REACTOME	R-HSA-5620912

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
35319462	2022	Evolutionary conservation of centriole rotational asymmetry in the human centrosome.	7
35319462	2022	Evolutionary conservation of centriole rotational asymmetry in the human centrosome.	7
30988386	2019	CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis.	17
30988386	2019	CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis.	17
30097616	2018	Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants.	12
30258116	2018	A distal centriolar protein network controls organelle maturation and asymmetry.	20
30097616	2018	Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants.	12
30258116	2018	A distal centriolar protein network controls organelle maturation and asymmetry.	20
27094867	2016	Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function.	18
27094867	2016	Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function.	18
24997988	2014	The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.	72
25412110	2014	SAS-1 is a C2 domain protein critical for centriole integrity in C. elegans.	12
24997988	2014	The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.	72
25412110	2014	SAS-1 is a C2 domain protein critical for centriole integrity in C. elegans.	12

Citation

Dessen P

C2CD3 (C2 domain containing 3 centriole elongation regulator)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54170/gene-fusions/js/css/favicon/manifest.json