About   Help   FAQ
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
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:71743557-71752885 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 42.67 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    100 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2385061
protein coding gene Chr17:71743555-71752885 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024013
protein coding gene Chr17:74221216-74230596 (-)
A/J MGP_AJ_G0023971
protein coding gene Chr17:71964509-71974275 (-)
AKR/J MGP_AKRJ_G0023940
protein coding gene Chr17:72947885-72957063 (-)
BALB/cJ MGP_BALBcJ_G0023972
protein coding gene Chr17:71896605-71905951 (-)
C3H/HeJ MGP_C3HHeJ_G0023736
protein coding gene Chr17:73896227-73905523 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024418
protein coding gene Chr17:76920610-76931420 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021863
protein coding gene Chr17:67715759-67724961 (-)
CAST/EiJ MGP_CASTEiJ_G0023217
protein coding gene Chr17:74346119-74357637 (-)
CBA/J MGP_CBAJ_G0023711
protein coding gene Chr17:80127034-80136355 (-)
DBA/2J MGP_DBA2J_G0023840
protein coding gene Chr17:70621319-70630508 (-)
FVB/NJ MGP_FVBNJ_G0023806
protein coding gene Chr17:70097363-70106795 (-)
LP/J MGP_LPJ_G0023922
protein coding gene Chr17:74949525-74958866 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0023834
protein coding gene Chr17:79984690-80006555 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024462
protein coding gene Chr17:73466978-73476231 (-)
PWK/PhJ MGP_PWKPhJ_G0022963
protein coding gene Chr17:69934969-69945264 (-)
SPRET/EiJ MGP_SPRETEiJ_G0022774
protein coding gene Chr17:70173073-70182209 (-)
WSB/EiJ MGP_WSBEiJ_G0023284
protein coding gene Chr17:74300789-74310022 (-)



Homology
more
  • Human Ortholog
    PCARE, photoreceptor cilium actin regulator
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PCARE, photoreceptor cilium actin regulator
    Orthology source: HGNC, HomoloGene
  • 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
less
  • 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
less
  • 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 population 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
less
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 5015 Not Applicable  
    polypeptide ENSMUSP00000051871 Ensembl | MGI Sequence Detail 1279 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • InterPro Domains
      IPR029352 Photoreceptor cilium actin regulator
    Molecular
    Reagents
    less
    • All nucleic 16
      cDNA 15
      Primer pair 1

      Microarray probesets 2
    References
    more
    • Summaries
      All 21
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 6
      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
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory