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Pcare Gene Detail
Summary
  • Symbol
    Pcare
  • Name
    photoreceptor cilium actin regulator
  • Synonyms
    BC027072, MGC:38716
  • Feature Type
    protein coding gene
  • IDs
    MGI:2385061
    NCBI Gene: 225004
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr17:71743557-71752885 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      9329 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 42.67 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    PCARE, photoreceptor cilium actin regulator
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PCARE, photoreceptor cilium actin regulator
    Orthology source: HomoloGene, HGNC
  • Synonyms
    C2orf71, RP54
  • Links
    NCBI Gene ID: 388939
    neXtProt AC: NX_A6NGG8
    UniProt: A6NGG8

  • Chr Location
    2p23.2; chr2:29061690-29074261 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 19792
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: PCARE
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Pcare mouse models; 1 with human PCARE associations

Human Disease Mouse Models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    19 phenotypes from 1 allele in 1 genetic background
    1 phenotype reference
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele develop severe early-onset retinal degeneration associated with a disorganized outer segment, progressive thinning of the outer nuclear layer, microglia activation, decreased a- and b-wave amplitudes, and nearly undetectable ERG responses by 8 weeks of age.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000044375 Ensembl Gene Model | MGI Sequence Detail 9329 C57BL/6J ±  kb
    transcript ENSMUST00000057405 Ensembl | MGI Sequence Detail 5004 Not Applicable  
    polypeptide ENSMUSP00000051871 Ensembl | MGI Sequence Detail 1279 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      100 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • InterPro Domains
      IPR029352 Retinal protein C2orf71
    Molecular
    Reagents
    less
    • All nucleic 16
      cDNA 15
      Primer pair 1

      Microarray probesets 2
    References
    more
    • Summaries
      All 19
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 4
      Phenotypes 1
    • Earliest
      J:82808 Strausberg RL, et al., Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903
    • Latest
      J:220866 Kevany BM, et al., Animals deficient in C2Orf71, an autosomal recessive retinitis pigmentosa-associated locus, develop severe early-onset retinal degeneration. Hum Mol Genet. 2015 May 1;24(9):2627-40

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.
    last database update
    07/31/2018
    MGI 6.12
    The Jackson Laboratory