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Hgd
Gene Detail
Symbol

Name
ID
Hgd
homogentisate 1, 2-dioxygenase
MGI:96078
Feature Type
protein coding gene
Genetic Map
Chromosome 16
26.40 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr16:37580153-37632020 bp, + strand
From VEGA annotation of GRCm38

  51868 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:156  Vertebrate Homology Class
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
homologs
HGD, homogentisate 1,2-dioxygenase
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 3081
neXtProt AC: NX_Q93099

Human Synonyms: AKU, HGO

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

Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Chemically induced (ENU)(1) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
Mutations in this gene result in high levels of urinary homogentisic acid.
 
Human Diseases Modeled in Mice Using Hgd (1)    Mutations Annotated to Human Diseases (1)    Phenotype Images(1)
Interactions
Hgd interacts with 29 markers (Mir26a-2, Mir26b, Mir27a, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (3 records)
Data Summary: Results (116)    Tissues (95)    Images (38)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 116
cDNA source data(67)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: ZFIN hgd    NEW 
Molecular
reagents
All nucleic(71) cDNA(69) Primer pair(2)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000035117 (Evidence)
Ensembl Gene Model ENSMUSG00000022821 (Evidence)
Entrez Gene 15233 (Evidence)
UniGene 157442
DFCI TC1579631, TC1598675, TC1605925
DoTS DT.101740883, DT.535153, DT.94257703, DT.94257907
NIA Mouse Gene Index U017086
EC 1.13.11.5
Consensus CDS Project CCDS49849.1
International Mouse Phenotyping Consortium Status Hgd
Sequences
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 sequences
All sequences(36) RefSeq(3) UniProt(3)
Polymorphisms
PCR(1) : SNPs within 2kb(209 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR005708 Homogentisate 1,2-dioxygenase
InterPro IPR011051 RmlC-like cupin domain
InterPro IPR014710 RmlC-like jelly roll fold
Protein Ontology PR:000008533 homogentisate 1,2-dioxygenase
References
(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
All references(33)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-10703, MGD-MRK-1258, MGI:87987

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory