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: 57102
MIM: 616082
HGNC: 1184
Ensembl: ENSG00000047621
Variants:
dbSNP: 57102
ClinVar: 57102
TCGA: ENSG00000047621
COSMIC: C12orf4
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34967075 | 2022 | A novel variant of C12orf4 linked to autosomal recessive intellectual disability type 66 with phenotype expansion. | 0 |
| 34967075 | 2022 | A novel variant of C12orf4 linked to autosomal recessive intellectual disability type 66 with phenotype expansion. | 0 |
| 27311568 | 2017 | Identification of C12orf4 as a gene for autosomal recessive intellectual disability. | 7 |
| 27311568 | 2017 | Identification of C12orf4 as a gene for autosomal recessive intellectual disability. | 7 |
| 25122211 | 2014 | In-cell intrabody selection from a diverse human library identifies C12orf4 protein as a new player in rodent mast cell degranulation. | 8 |
| 25122211 | 2014 | In-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/deep-insight-explorer/gene-explorer/
