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

Gene ID: 388939, updated on 7-Dec-2018

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
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

Genomic context

See PCARE in Genome Data Viewer
Location:
2p23.2
Exon count:
2
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (29061690..29074261, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (29284556..29297127, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene WD repeat domain 43 Neighboring gene small nucleolar RNA, C/D box 53B Neighboring gene TOG array regulator of axonemal microtubules 2 Neighboring gene uncharacterized LOC105374386 Neighboring gene CLIP4 5' region CAGE-defined mid-level expression enhancer Neighboring gene CAP-Gly domain containing linker protein family member 4

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Retinitis pigmentosa 54 Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of recurrent early-onset major depressive disorder.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ34931

Gene Ontology Provided by GOA

Process Evidence Code Pubs
photoreceptor cell outer segment organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to photoreceptor outer segment IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cilium IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor inner segment IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
photoreceptor outer segment IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
photoreceptor cilium actin regulator
Names
uncharacterized protein C2orf71

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_021427.1 RefSeqGene

    Range
    5001..17572
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001029883.3NP_001025054.1  photoreceptor cilium actin regulator

    See identical proteins and their annotated locations for NP_001025054.1

    Status: REVIEWED

    Source sequence(s)
    AC105398, AK092250, BM669582
    Consensus CDS
    CCDS42669.1
    UniProtKB/Swiss-Prot
    A6NGG8
    Related
    ENSP00000332809.4, ENST00000331664.5
    Conserved Domains (1) summary
    pfam15449
    Location:11264
    Retinal; Retinal protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    29061690..29074261 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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