HAAO (3-hydroxyanthranilate 3,4-dioxygenase)

2009-11-01  

Identity

HGNC
HAAO
LOCATION
2p21
LOCUSID
23498
ALIAS
3-HAO,HAO,VCRL1,h3HAO
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
204680712010Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts.17
197248652009Identification of candidate epigenetic biomarkers for ovarian cancer detection.9
202114852010Promoter hypermethylation of CIDEA, HAAO and RXFP3 associated with microsatellite instability in endometrial carcinomas.8
300639272019Single Nucleotide Polymorphisms of HAAO and IRX6 Genes as Risk Factors for Hypospadias.1
283751452017Crystal structures of human 3-hydroxyanthranilate 3,4-dioxygenase with native and non-native metals bound in the active site.0

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