CC2D1A (coiled-coil and C2 domain containing 1A)

2011-08-01  

Identity

HGNC
LOCATION
19p13.12
LOCUSID
ALIAS
Aki-1,FREUD-1,Freud-1/Aki1,Lgd2,MRT3,TAPE
FUSION GENES

Other Information

Locus ID:

NCBI: 54862
MIM: 610055
HGNC: 30237
Ensembl: ENSG00000132024

Variants:

dbSNP: 54862
ClinVar: 54862
TCGA: ENSG00000132024
COSMIC: CC2D1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132024ENST00000318003Q6P1N0
ENSG00000132024ENST00000586955K7EJY5
ENSG00000132024ENST00000587508K7EMP1
ENSG00000132024ENST00000589606Q6P1N0

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
1553404220045-HT1A receptors, gene repression, and depression: guilt by association.75
170843582006The Drosophila Notch inhibitor and tumor suppressor gene lethal (2) giant discs encodes a conserved regulator of endosomal trafficking.51
160339142006The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation.49
199484892009Centrosomal Aki1 and cohesin function in separase-regulated centriole disengagement.35
199484892009Centrosomal Aki1 and cohesin function in separase-regulated centriole disengagement.35
186629992008Freud-1/Aki1, a novel PDK1-interacting protein, functions as a scaffold to activate the PDK1/Akt pathway in epidermal growth factor signaling.31
186629992008Freud-1/Aki1, a novel PDK1-interacting protein, functions as a scaffold to activate the PDK1/Akt pathway in epidermal growth factor signaling.31
224066772012CC2D1A is a regulator of ESCRT-III CHMP4B.24
188062972009Further assessment of the complement component 2 and factor B region associated with age-related macular degeneration.23
147568062004Cell type-dependent recruitment of trichostatin A-sensitive repression of the human 5-HT1A receptor gene.21

Citation

Dessen P

CC2D1A (coiled-coil and C2 domain containing 1A)

Atlas Genet Cytogenet Oncol Haematol. 2011-08-01

Online version: http://atlasgeneticsoncology.org/gene/52323/cc2d1a