HAAO (3-hydroxyanthranilate 3,4-dioxygenase)

2009-11-01  

Identity

HGNC
LOCATION
2p21
LOCUSID
ALIAS
3-HAO,HAO,VCRL1,h3HAO
FUSION GENES

Other Information

Locus ID:

NCBI: 23498
MIM: 604521
HGNC: 4796
Ensembl: ENSG00000162882

Variants:

dbSNP: 23498
ClinVar: 23498
TCGA: ENSG00000162882
COSMIC: HAAO

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162882ENST00000294973P46952
ENSG00000162882ENST00000431905C9IY88

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Tryptophan metabolismKEGGko00380
Tryptophan metabolismKEGGhsa00380
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Tryptophan catabolismREACTOMER-HSA-71240
Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolismREACTOMER-HSA-6788656

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
353622672022Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL-like association, and isolated anorectal malformation.1
353622672022Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL-like association, and isolated anorectal malformation.1
337672422021Expression analysis of selected genes involved in tryptophan metabolic pathways in Egyptian children with Autism Spectrum Disorder and learning disabilities.8
337672422021Expression analysis of selected genes involved in tryptophan metabolic pathways in Egyptian children with Autism Spectrum Disorder and learning disabilities.8
323900082020Dysregulation at multiple points of the kynurenine pathway is a ubiquitous feature of renal cancer: implications for tumour immune evasion.14
323900082020Dysregulation at multiple points of the kynurenine pathway is a ubiquitous feature of renal cancer: implications for tumour immune evasion.14
300639272019Single Nucleotide Polymorphisms of HAAO and IRX6 Genes as Risk Factors for Hypospadias.4
300639272019Single Nucleotide Polymorphisms of HAAO and IRX6 Genes as Risk Factors for Hypospadias.4
283751452017Crystal structures of human 3-hydroxyanthranilate 3,4-dioxygenase with native and non-native metals bound in the active site.3
283751452017Crystal structures of human 3-hydroxyanthranilate 3,4-dioxygenase with native and non-native metals bound in the active site.3
202114852010Promoter hypermethylation of CIDEA, HAAO and RXFP3 associated with microsatellite instability in endometrial carcinomas.17
204680712010Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts.22
202114852010Promoter hypermethylation of CIDEA, HAAO and RXFP3 associated with microsatellite instability in endometrial carcinomas.17
204680712010Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts.22
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.94

Citation

Dessen P

HAAO (3-hydroxyanthranilate 3,4-dioxygenase)

Atlas Genet Cytogenet Oncol Haematol. 2009-11-01

Online version: http://atlasgeneticsoncology.org/gene/51229/haao