• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PCARE (HGNC:34383) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
photoreceptor cilium actin regulator
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
C2orf71
Alias symbols
FLJ34931, RP54
%HI
84.18(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.11(Read more about gnomAD LOEUF score)
Cytoband
2p23.2
Genomic Coordinates
GRCh37/hg19: chr2:29284561-29297389 NCBI Ensembl UCSC
GRCh38/hg38: chr2:29061695-29074523 NCBI Ensembl UCSC
MANE Select Transcript
NM_001029883.3 ENST00000331664.6 (Read more about MANE Select)
Function
Plays an essential role for normal photoreceptor cell maintenance and vision. {ECO:0000269|PubMed:20398886}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-29114
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
09/25/2014

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Mutations of C2orf71 are associated with autosomal recessive retinitis pigmentosa. Of note, Khatep et al. (2014) described multiple family members who carry one copy (heterozygous) of a C2orf71 nonsense mutation along with two copies (homozygous) of nonsense CEP250 mutations, who presented with an atypical form of Usher syndrome with relatively mild retinitis pigmentosa (RP). RP has been shown to be a recessive condition as well as a multigenic trait where the additive effect of the genotypes at multiple loci can cause RP. However, in this family the RP phenotype was only seen in the family members homozygous for CEP250 and heterozygous for C2orf761 and not seen in the one family member heterozygous for both C2orf71 and CEP250. (PMID: 24780881)

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)