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: 388939
MIM: 613425
HGNC: 34383
Ensembl: ENSG00000179270
Variants:
dbSNP: 388939
ClinVar: 388939
TCGA: ENSG00000179270
COSMIC: PCARE
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000179270 | ENST00000331664 | A6NGG8 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36396885 | 2023 | Association of chromosome 2 open reading frame 71 in colorectal cancer susceptibility. | 1 |
| 36396885 | 2023 | Association of chromosome 2 open reading frame 71 in colorectal cancer susceptibility. | 1 |
| 27029556 | 2017 | Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy. | 13 |
| 28763557 | 2017 | C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. | 12 |
| 27029556 | 2017 | Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy. | 13 |
| 28763557 | 2017 | C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. | 12 |
| 24780881 | 2014 | A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome. | 46 |
| 24780881 | 2014 | A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome. | 46 |
| 20811058 | 2011 | A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls. | 6 |
| 20811058 | 2011 | A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls. | 6 |
| 21412943 | 2011 | Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort. | 22 |
| 20811058 | 2011 | A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls. | 6 |
| 20811058 | 2011 | A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls. | 6 |
| 21412943 | 2011 | Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort. | 22 |
| 20398884 | 2010 | Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa. | 47 |
Citation
Dessen P
PCARE (photoreceptor cilium actin regulator)
Atlas Genet Cytogenet Oncol Haematol. 2018-11-01
Online version: http://atlasgeneticsoncology.org/gene/80265/
