About   Help   FAQ
Tyr Gene Detail
Summary
  • Symbol
    Tyr
  • Name
    tyrosinase
  • Synonyms
    Oca1, skc35
  • Feature Type
    protein coding gene
  • IDs
    MGI:98880
    NCBI Gene: 22173
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
  • Candidate for QTL
    1 QTL
Location &
Maps
more
  • Sequence Map
    Chr7:87073979-87142637 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 49.01 cM
  • Mapping Data
    320 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2142 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    2
  • RFLP
    26
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98880
 protein coding gene Chr7:87073979-87142720 (-)
129S1/SvImJ MGP_129S1SvImJ_G0032490
 protein coding gene Chr7:89764807-89845053 (-)
A/J MGP_AJ_G0032464
 protein coding gene Chr7:87613905-87685983 (-)
AKR/J MGP_AKRJ_G0032400
 protein coding gene Chr7:89721086-89791319 (-)
BALB/cJ MGP_BALBcJ_G0032475
 protein coding gene Chr7:87297291-87375216 (-)
C3H/HeJ MGP_C3HHeJ_G0032190
 protein coding gene Chr7:90093436-90164709 (-)
C57BL/6NJ MGP_C57BL6NJ_G0032973
 protein coding gene Chr7:93322454-93393584 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029968
 protein coding gene Chr7:90292977-90358828 (-)
CAST/EiJ MGP_CASTEiJ_G0031517
 protein coding gene Chr7:81487968-81561988 (-)
CBA/J MGP_CBAJ_G0032156
 protein coding gene Chr7:96367702-96451457 (-)
DBA/2J MGP_DBA2J_G0032309
 protein coding gene Chr7:86105160-86175303 (-)
FVB/NJ MGP_FVBNJ_G0032265
 protein coding gene Chr7:85996608-86062397 (-)
LP/J MGP_LPJ_G0032398
 protein coding gene Chr7:91023698-91095511 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032299
 protein coding gene Chr7:97293003-97376453 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0032995
 protein coding gene Chr7:88971140-89042707 (-)
PWK/PhJ MGP_PWKPhJ_G0031235
 protein coding gene Chr7:79129195-79199051 (-)
SPRET/EiJ MGP_SPRETEiJ_G0031078
 protein coding gene Chr7:76258197-76325970 (-)
WSB/EiJ MGP_WSBEiJ_G0031634
 protein coding gene Chr7:89607823-89680964 (-)



Homology
more
  • Human Ortholog
    TYR, tyrosinase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TYR, tyrosinase
  • Synonyms
    ATN, CMM8, OCA1, OCA1A, OCAIA, SHEP3
  • Links
    NCBI Gene ID: 7299
    neXtProt AC: NX_P14679
    UniProt: P14679

  • Chr Location
    11q14.3; chr11:89177875-89295759 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Tyr mouse models; 9 with human TYR associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
 View 3 models
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    65 phenotypes from 122 alleles in 40 genetic backgrounds
    119 phenotypes from multigenic genotypes
    8 images
    347 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
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
neoplasm
vision/eye

Click cells to view annotations.
Numerous mutations at this locus result in albinism or hypopigmentation. Albinism is associated with reduced number of optic nerve fibers and mutants can have impaired vision. Some alleles are lethal.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    34
  • GO References
    15
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    897
  • Tissues
    74
  • cDNA Data
    50
  • Literature Summary
    28
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 22173 NCBI Gene Model | MGI Sequence Detail 68659 C57BL/6J ±  kb
    transcript NM_011661 RefSeq | MGI Sequence Detail 5959 ZRU/MplStud  
    polypeptide P11344 UniProt | EBI | MGI Sequence Detail 533 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 175
      Genomic 82
      cDNA 55
      Primer pair 3
      Other 35

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-15315, MGD-MRK-1695, MGI:2671628
    References
    more
    • Summaries
      All 688
      Developmental Gene Expression 28
      Diseases 6
      Gene Ontology 15
      Phenotypes 347
    • Earliest
      J:100 Haldane JBS, et al., Reduplication in mice. J Genet. 1915;5(2):133-135
    • Latest
      J:355032 Zhan X, et al., Calcium-Dependent Regulation of Neuronal Excitability Is Rescued in Fragile X Syndrome by a Tat-Conjugated N-Terminal Fragment of FMRP. J Neurosci. 2024 May 22;44(21)
    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, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory