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

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic    (Mammalian Orthology)
Comparative Map (Mouse/Human Hgd ± 2 cM)

Gene Tree: Hgd

Human ortholog

HGD homogentisate 1,2-dioxygenase NCBI Gene ID 3081
Human Synonyms: AKU, HGO
Human Chr3:120347015-120401418 bp, - strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human HGD (1)

Alleles and phenotypes

All alleles(3) : Targeted(2) Chemically induced(1)
 

Mutations in this gene result in high levels of urinary homogentisic acid.

 
Human Diseases Modeled Using Mouse Hgd (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(1)

Gene Ontology (GO) classifications

All GO classifications: (12 annotations)

Process	cellular amino acid metabolic process, L-phenylalanine catabolic process, ...
Function	homogentisate 1,2-dioxygenase activity, metal ion binding, ...

External Resources: FuncBase

Expression

Literature Summary: (3 records)
Data Summary: Results (116)    Tissues (95)    Images (38)
Theiler Stages: 22, 23

Assay Type	Results
RNA in situ	116

cDNA source data(67)
External Resources: Allen Institute   GEO   ArrayExpress

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 Knockout Project Status	Hgd

Sequences

Length	Strain/Species
genomic	OTTMUSG00000035117	VEGA Gene Model | MGI Sequence Detail	51868	C57BL/6J
transcript	OTTMUST00000089365	VEGA | MGI Sequence Detail	1702	Not Applicable
polypeptide	OTTMUSP00000048837	VEGA | MGI Sequence Detail	445	Not Applicable

All sequences(36) RefSeq(3) UniProt(3)

Polymorphisms

PCR(1) : SNPs(184 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR005708	Homogentisate 1,2-dioxygenase
InterPro	IPR011051	RmlC-like cupin domain
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(36)

Other accession IDs

MGD-MRK-10703, MGD-MRK-1258, MGI:87987