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Gene : PCARE Homo sapiens

Name  ? photoreceptor cilium actin regulator Cytological Location  2p23.2
Brief Description  photoreceptor cilium actin regulator
Description  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]
  • synonyms:
  • RP54,
  • chromosome 2 open reading frame 71,
  • uc002rmt.3,
  • NM_001029883,
  • RP54,
  • PCARE,
  • C2orf71,
  • HGNC:34383,
  • C2orf71,
  • OTTHUMG00000152024,
  • FLJ34931
  • identifiers:
  • 388939,
  • ENSG00000179270,
  • PCARE

Genome feature

Region: gene ? Length: 12829  
Location: 2:29061695-29074523 reverse strand Cyto location: 2p23.2


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3753 SN Ps

5 Cross References

16 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results