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: 79669
MIM: 611956
HGNC: 26255
Ensembl: ENSG00000114529
Variants:
dbSNP: 79669
ClinVar: 79669
TCGA: ENSG00000114529
COSMIC: C3orf52
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000114529 | ENST00000264848 | Q5BVD1 |
| ENSG00000114529 | ENST00000431717 | Q5BVD1 |
| ENSG00000114529 | ENST00000480282 | Q5BVD1 |
| ENSG00000114529 | ENST00000484828 | H7C5J7 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34309526 | 2021 | A novel homozygous frameshift variant in the C3orf52 gene underlying isolated hair loss in a consanguineous family. | 1 |
| 34309526 | 2021 | A novel homozygous frameshift variant in the C3orf52 gene underlying isolated hair loss in a consanguineous family. | 1 |
| 32336749 | 2020 | Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis. | 2 |
| 32336749 | 2020 | Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis. | 2 |
Citation
Dessen P
C3orf52 (chromosome 3 open reading frame 52)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61184/c3orf52-(chromosome-3-open-reading-frame-52)
