About   Help   FAQ
Oca2 Gene Detail
Summary
  • Symbol
    Oca2
  • Name
    oculocutaneous albinism II
  • Synonyms
    D7H15S12, D7H15S12, p
  • Feature Type
    protein coding gene
  • IDs
    MGI:97454
    NCBI Gene: 18431
  • Gene Overview
    MyGene.info: OCA2
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:56239760-56536518 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 33.44 cM
  • Mapping Data
    145 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2881 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97454
protein coding gene Chr7:56239593-56536518 (+)
129S1/SvImJ MGP_129S1SvImJ_G0032317
protein coding gene Chr7:57045384-57331555 (+)
A/J MGP_AJ_G0032296
protein coding gene Chr7:56185472-56480091 (+)
AKR/J MGP_AKRJ_G0032232
protein coding gene Chr7:57495315-57767180 (+)
BALB/cJ MGP_BALBcJ_G0032308
protein coding gene Chr7:55802923-56087817 (+)
C3H/HeJ MGP_C3HHeJ_G0032021
protein coding gene Chr7:57839333-58116382 (+)
C57BL/6NJ MGP_C57BL6NJ_G0032801
protein coding gene Chr7:59627088-59929725 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029808
protein coding gene Chr7:58855716-59122720 (+)
CAST/EiJ MGP_CASTEiJ_G0031350
protein coding gene Chr7:49048824-49346050 (+)
CBA/J MGP_CBAJ_G0031986
protein coding gene Chr7:61694297-62010198 (+)
DBA/2J MGP_DBA2J_G0032143
protein coding gene Chr7:55212086-55498920 (+)
FVB/NJ MGP_FVBNJ_G0032097
protein coding gene Chr7:55155579-55425533 (+)
LP/J MGP_LPJ_G0032224
protein coding gene Chr7:58104829-58399954 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0032134
protein coding gene Chr7:61197552-61540868 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0032818
protein coding gene Chr7:56478240-56783837 (+)
PWK/PhJ MGP_PWKPhJ_G0031070
protein coding gene Chr7:48461672-48755597 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030911
protein coding gene Chr7:44522357-44827020 (+)
WSB/EiJ MGP_WSBEiJ_G0031468
protein coding gene Chr7:57126770-57419670 (+)



Homology
more
  • Human Ortholog
    OCA2, OCA2 melanosomal transmembrane protein
  • Vertebrate Orthologs
    10
  • Human Ortholog
    OCA2, OCA2 melanosomal transmembrane protein
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BEY, BEY1, BEY2, BOCA, D15S12, EYCL, EYCL2, EYCL3, HCL3, P, PED, SHEP1
  • Links
    NCBI Gene ID: 4948
    neXtProt AC: NX_Q04671
    UniProt: Q04671

  • Chr Location
    15q12-q13.1; chr15:27719008-28099342 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 37281
    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: OCA2
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Oca2 mouse models; 1 with human OCA2 associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    88 phenotypes from 71 alleles in 20 genetic backgrounds
    22 phenotypes from multigenic genotypes
    6 images
    144 phenotype references
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.
Mutations generally result in varying degrees of coat and eye pigment dilution. Specific alleles produce cleft palate, reproductive, endocrine or neurological disorders, and/or lethality.
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 ENSMUSG00000030450 Ensembl Gene Model | MGI Sequence Detail 296759 C57BL/6J ±  kb
    transcript ENSMUST00000032633 Ensembl | MGI Sequence Detail 3132 Not Applicable  
    polypeptide ENSMUSP00000032633 Ensembl | MGI Sequence Detail 833 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 30
      Genomic 10
      cDNA 17
      Primer pair 3

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-13097, MGD-MRK-7793, MGD-MRK-7817, MGD-MRK-8115
    References
    more
    • Summaries
      All 273
      Developmental Gene Expression 5
      Diseases 5
      Gene Ontology 10
      Phenotypes 144
    • Earliest
      J:211024 Durham FM, Further experiments on the inheritance of coat colour in mice. J Genet. 1911;1:159-178
    • Latest
      J:263646 Horiuchi K, et al., Impaired Spermatogenesis, Muscle, and Erythrocyte Function in U12 Intron Splicing-Defective Zrsr1 Mutant Mice. Cell Rep. 2018 Apr 3;23(1):143-155

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    06/18/2019
    MGI 6.14
    The Jackson Laboratory