PCARE (photoreceptor cilium actin regulator)

2018-11-01 Affiliation

HGNC

PCARE

LOCATION

2p23.2

LOCUSID

388939

ALIAS

C2orf71,RP54

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

dbSNP: 388939
ClinVar: 388939
TCGA: ENSG00000179270
COSMIC: PCARE

Gene ID	Transcript ID	Uniprot
ENSG00000179270	ENST00000331664	A6NGG8

Pubmed ID	Year	Title	Citations
24780881	2014	A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.	26
27029556	2017	Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.	6
20398884	2010	Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.	0
20398886	2010	Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.	0
20811058	2011	A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls.	0
20811058	2011	A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls.	0
21412943	2011	Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.	0
28763557	2017	C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.	0

Dessen P

PCARE (photoreceptor cilium actin regulator)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01