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BC027072 Gene Detail
Summary
  • Symbol
    BC027072
  • Name
    cDNA sequence BC027072
  • Synonyms
    MGC:38716
  • Feature Type
    protein coding gene
  • IDs
    MGI:2385061
    NCBI Gene: 225004
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
Homology
more
  • Human Ortholog
    C2orf71, chromosome 2 open reading frame 71
  • Vertebrate Orthologs
    10
  • Human Ortholog
    C2orf71, chromosome 2 open reading frame 71
    Orthology source: HGNC, HomoloGene
  • Synonyms
    RP54
  • Links
    NCBI Gene ID: 388939
    neXtProt AC: NX_A6NGG8

  • Chr Location
    2p23.2; chr2:29061373-29074838 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with BC027072 mouse models; 1 with human C2orf71 associations

Human Disease Mouse Models
       Retinitis Pigmentosa 54; RP54   OMIM: 613428 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
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
less
Sequences &
Gene Models
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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 18
    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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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory