PCARE photoreceptor cilium actin regulator [Homo sapiens (human)] - Gene

Summary

Official Symbol: PCAREprovided by HGNC
Official Full Name: photoreceptor cilium actin regulatorprovided by HGNC
Primary source: HGNC:HGNC:34383
See related: Ensembl:ENSG00000179270 MIM:613425; AllianceGenome:HGNC:34383
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RP54; C2orf71
Summary: The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa. [provided by RefSeq, Jun 2010]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 2p23.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (29061695..29074523, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (29105151..29117982, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (29284561..29297389, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of chromosome 2 open reading frame 71 in colorectal cancer susceptibility.
Title: Association of chromosome 2 open reading frame 71 in colorectal cancer susceptibility.
We propose that the combination of heterozygous loss-of-function mutations in these genes drives syndromic retinal dystrophy, likely through the genetic interaction of at least two loci.
Title: Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.
On the basis of our multicenter analysis, C2orf71 might represent a more frequently mutated gene in autosomal recessive retinitis pigmentosa in some populations.
Title: C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.
A homozygous nonsense CEP250 mutation, in combination with a heterozygous C2orf71 nonsense mutation, causes an atypical form of Usher syndrome, characterised by early-onset sensorineural hearing loss and a relatively mild retinitis pigmentosa.
Title: A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.
Novel C2orf71 mutations account for approximately 1% of cases in a large French arRP cohort.
Title: Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.
C2ORF71 is a highly polymorphic gene (average heterozygosity of coding region in controls: 2.118 x 10(-3)) with many rare variants that confound mutation detection.
Title: A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls.
Observational study of gene-disease association. (HuGE Navigator)
Title: A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls.
Discovery and functional analysis of a retinitis pigmentosa gene, C2orf71, are reported.
Title: Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.
Mutations in C2orf71 cause autosomal-recessive retinitis pigmentosa.
Title: Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Retinitis pigmentosa 54 MedGen: C3150691 OMIM: 613428 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of recurrent early-onset major depressive disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in photoreceptor cell outer segment organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to photoreceptor outer segment	IBA Inferred from Biological aspect of Ancestor more info
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in cone photoreceptor outer segment	IEA Inferred from Electronic Annotation more info
is_active_in photoreceptor inner segment	IBA Inferred from Biological aspect of Ancestor more info
is_active_in photoreceptor outer segment	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: photoreceptor cilium actin regulator

Names: uncharacterized protein C2orf71

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.