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Th Gene Detail
Summary
  • Symbol
    Th
  • Name
    tyrosine hydroxylase
  • Feature Type
    protein coding gene
  • IDs
    MGI:98735
    NCBI Gene: 21823
  • Gene Overview
    MyGene.info: TH
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr7:142892752-142931128 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      38377 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 88.06 cM
  • Mapping Data
    19 experiments
Homology
more
  • Human Ortholog
    TH, tyrosine hydroxylase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    TH, tyrosine hydroxylase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DYT14, DYT5b, TYH
  • Links
    NCBI Gene ID: 7054
    neXtProt AC: NX_P07101
    UniProt: P07101

  • Chr Location
    11p15.5; chr11:2163929-2174081 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    38 phenotypes from 11 alleles in 11 genetic backgrounds
    55 phenotypes from multigenic genotypes
    1 images
    97 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.
Homozygotes for targeted null mutations are deficient in catecholamines, and usually die around embryonic day 11.5-15.5 due to cardiac failure. Treatment of the pregnant female with dihydroxyphenylalanine prevents prenatal mortality. Mice homozygous for hypomorphic targeted alleles are hypokinetic.
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 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
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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
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    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000018790 VEGA Gene Model | MGI Sequence Detail 38377 C57BL/6J ±  kb
    transcript OTTMUST00000045229 VEGA | MGI Sequence Detail 1829 Not Applicable  
    polypeptide OTTMUSP00000020341 VEGA | MGI Sequence Detail 498 Not Applicable  
    For the selected sequence
    Polymorphisms
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    • SNPs within 2kb
      413 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
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    • All nucleic 49
      Genomic 23
      cDNA 16
      Primer pair 8
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-15078
    References
    more
    • Summaries
      All 779
      Developmental Gene Expression 599
      Gene Ontology 24
      Phenotypes 97
    • Earliest
      J:8890 Vadasz C, et al., Genetic determination of mesencephalic tyrosine hydroxylase activity in the mouse. J Neurogenet. 1987 Aug;4(5):241-52
    • Latest
      J:255335 Tan GH, et al., PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum. Cell Res. 2018 Jan;28(1):90-110

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    05/15/2018
    MGI 6.12
    The Jackson Laboratory