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Hgd Gene Detail
Summary
  • Symbol
    Hgd
  • Name
    homogentisate 1, 2-dioxygenase
  • Feature Type
    protein coding gene
  • IDs
    MGI:96078
    NCBI Gene: 15233
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:37400515-37452382 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 26.40 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1227 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96078
 protein coding gene Chr16:37400104-37452388 (+)
129S1/SvImJ MGP_129S1SvImJ_G0022802
 protein coding gene Chr16:36047940-36107719 (+)
A/J MGP_AJ_G0022767
 protein coding gene Chr16:34255012-34310496 (+)
AKR/J MGP_AKRJ_G0022739
 protein coding gene Chr16:35558841-35614767 (+)
BALB/cJ MGP_BALBcJ_G0022768
 protein coding gene Chr16:34372087-34424719 (+)
C3H/HeJ MGP_C3HHeJ_G0022532
 protein coding gene Chr16:35683273-35734288 (+)
C57BL/6NJ MGP_C57BL6NJ_G0023215
 protein coding gene Chr16:36891943-36951422 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020729
 protein coding gene Chr16:34646544-34696962 (+)
CAST/EiJ MGP_CASTEiJ_G0022058
 protein coding gene Chr16:35817867-35873379 (+)
CBA/J MGP_CBAJ_G0022503
 protein coding gene Chr16:38491798-38545713 (+)
DBA/2J MGP_DBA2J_G0022635
 protein coding gene Chr16:34153634-34204961 (+)
FVB/NJ MGP_FVBNJ_G0022610
 protein coding gene Chr16:34180426-34231381 (+)
LP/J MGP_LPJ_G0022703
 protein coding gene Chr16:35743940-35797173 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022629
 protein coding gene Chr16:37634729-37693135 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0023230
 protein coding gene Chr16:35526932-35583953 (+)
PWK/PhJ MGP_PWKPhJ_G0021798
 protein coding gene Chr16:34547270-34599788 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021629
 protein coding gene Chr16:35428959-35484725 (+)
WSB/EiJ MGP_WSBEiJ_G0022102
 protein coding gene Chr16:35600784-35655837 (+)



Homology
more
  • Human Ortholog
    HGD, homogentisate 1,2-dioxygenase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HGD, homogentisate 1,2-dioxygenase
  • Synonyms
    AKU, HGO
  • Links
    NCBI Gene ID: 3081
    neXtProt AC: NX_Q93099
    UniProt: Q93099

  • Chr Location
    3q13.33; chr3:120628172-120682269 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Hgd mouse models; 1 with human HGD associations

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

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    6 phenotypes from 3 alleles in 3 genetic backgrounds
    12 phenotypes from multigenic genotypes
    1 images
    15 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.
Mutations in this gene result in high levels of urinary homogentisic acid.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    10
  • GO References
    7
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
    870
  • Tissues
    119
  • cDNA Data
    68
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000022821 Ensembl Gene Model | MGI Sequence Detail 51868 C57BL/6J ±  kb
    transcript ENSMUST00000160847 Ensembl | MGI Sequence Detail 1702 Not Applicable  
    polypeptide ENSMUSP00000125492 Ensembl | MGI Sequence Detail 445 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 73
      cDNA 70
      Primer pair 3

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-10703, MGD-MRK-1258, MGI:87987
    References
    more
    • Summaries
      All 41
      Developmental Gene Expression 4
      Diseases 2
      Gene Ontology 7
      Phenotypes 15
    • Earliest
      J:156663 RUSSELL WL, X-ray-induced mutations in mice. Cold Spring Harb Symp Quant Biol. 1951;16:327-36
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory