C12orf4 (chromosome 12 open reading frame 4)

2014-08-01  

Identity

HGNC
LOCATION
12p13.32
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 57102
MIM: 616082
HGNC: 1184
Ensembl: ENSG00000047621

Variants:

dbSNP: 57102
ClinVar: 57102
TCGA: ENSG00000047621
COSMIC: C12orf4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000047621ENST00000261250Q9NQ89
ENSG00000047621ENST00000541014F5GXX6
ENSG00000047621ENST00000542080F5H744
ENSG00000047621ENST00000544258H0YGS6
ENSG00000047621ENST00000544697F5H271
ENSG00000047621ENST00000545746Q9NQ89

Expression (GTEx)

0
5
10
15
20

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
273115682017Identification of C12orf4 as a gene for autosomal recessive intellectual disability.4
251222112014In-cell intrabody selection from a diverse human library identifies C12orf4 protein as a new player in rodent mast cell degranulation.3

Citation

Dessen P

C12orf4 (chromosome 12 open reading frame 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54163/c12orf4