About   Help   FAQ
Hgd Gene Detail
Summary
  • Symbol
    Hgd
  • Name
    homogentisate 1, 2-dioxygenase
  • Feature Type
    protein coding gene
  • IDs
    MGI:96078
    NCBI Gene: 15233
Location & Maps
more
  • Sequence Map
    Chr16:37580153-37632020 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      51868 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 26.40 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    HGD, homogentisate 1,2-dioxygenase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    HGD, homogentisate 1,2-dioxygenase
    Orthology source: HomoloGene
  • Synonyms
    AKU, HGO
  • Links
    NCBI Gene ID: 3081
    neXtProt AC: NX_Q93099

  • Chr Location
    3q13.33; chr3:120628168-120682571 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 156
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: HGD
  • Gene Tree
    Hgd
Human Diseases
more
  • Diseases
    1 with Hgd mouse models; 1 with human HGD associations

Human Disease Mouse Models
       Alkaptonuria; AKU   OMIM: 203500 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
    3 phenotypes from 1 allele in 1 genetic background
    12 phenotypes from multigenic genotypes
    1 images
    9 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.
  • All Mutations and Alleles
    3
  • Chemically induced (ENU)
    1
  • Targeted
    2
  • Incidental Mutations
Mutations in this gene result in high levels of urinary homogentisic acid.
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
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
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000035117 VEGA Gene Model | MGI Sequence Detail 51868 C57BL/6J ±  kb
transcript OTTMUST00000089365 VEGA | MGI Sequence Detail 1702 Not Applicable  
polypeptide OTTMUSP00000048837 VEGA | MGI Sequence Detail 445 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    209 from dbSNP Build 142
  • PCR
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 71
    cDNA 69
    Primer pair 2

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-10703, MGD-MRK-1258, MGI:87987
References
more
  • Summaries
    All 30
    Developmental Gene Expression 3
    Diseases 1
    Gene Ontology 4
    Phenotypes 9
  • Earliest
    J:156663 RUSSELL WL, X-ray-induced mutations in mice. Cold Spring Harb Symp Quant Biol. 1951;16:327-36
  • Latest
    J:191301 Duncan AW, et al., Aneuploidy as a mechanism for stress-induced liver adaptation. J Clin Invest. 2012 Sep 4;122(9):3307-15

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
07/19/2016
MGI 6.04
The Jackson Laboratory