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
349670752022A novel variant of C12orf4 linked to autosomal recessive intellectual disability type 66 with phenotype expansion.0
349670752022A novel variant of C12orf4 linked to autosomal recessive intellectual disability type 66 with phenotype expansion.0
273115682017Identification of C12orf4 as a gene for autosomal recessive intellectual disability.7
273115682017Identification of C12orf4 as a gene for autosomal recessive intellectual disability.7
251222112014In-cell intrabody selection from a diverse human library identifies C12orf4 protein as a new player in rodent mast cell degranulation.8
251222112014In-cell intrabody selection from a diverse human library identifies C12orf4 protein as a new player in rodent mast cell degranulation.8

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/js/css/lib/welcome