Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23498
Gene name	3-hydroxyanthranilate 3,4-dioxygenase
Gene symbol	HAAO
Synonyms (NCBI Gene)	3-HAOHAOVCRL1h3HAO
Chromosome	2
Chromosome location	2p21
Summary	3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral organs, such as liver and kidney, and is also present in

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miRTarBase ID	miRNA	Experiments	Reference
MIRT490268	hsa-miR-6502-3p	PAR-CLIP	23592263
MIRT490267	hsa-miR-4781-5p	PAR-CLIP	23592263
MIRT490266	hsa-miR-4787-5p	PAR-CLIP	23592263
MIRT490265	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT490264	hsa-miR-744-5p	PAR-CLIP	23592263
MIRT490263	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT490262	hsa-miR-6781-5p	PAR-CLIP	23592263
MIRT490261	hsa-miR-128-1-5p	PAR-CLIP	23592263
MIRT490260	hsa-miR-128-2-5p	PAR-CLIP	23592263
MIRT490259	hsa-miR-6835-5p	PAR-CLIP	23592263
MIRT490258	hsa-miR-197-5p	PAR-CLIP	23592263
MIRT490257	hsa-miR-3132	PAR-CLIP	23592263
MIRT490256	hsa-miR-3529-5p	PAR-CLIP	23592263
MIRT490255	hsa-miR-379-5p	PAR-CLIP	23592263
MIRT460089	hsa-miR-4773	PAR-CLIP	23592263
MIRT460088	hsa-miR-3919	PAR-CLIP	23592263
MIRT460087	hsa-miR-1252-5p	PAR-CLIP	23592263
MIRT460086	hsa-miR-4795-5p	PAR-CLIP	23592263
MIRT460085	hsa-miR-589-5p	PAR-CLIP	23592263
MIRT460084	hsa-miR-146a-5p	PAR-CLIP	23592263
MIRT460083	hsa-miR-146b-5p	PAR-CLIP	23592263
MIRT460082	hsa-miR-7153-5p	PAR-CLIP	23592263
MIRT460081	hsa-miR-6770-5p	PAR-CLIP	23592263
MIRT460080	hsa-miR-143-3p	PAR-CLIP	23592263
MIRT460079	hsa-miR-4770	PAR-CLIP	23592263
MIRT460078	hsa-miR-6088	PAR-CLIP	23592263
MIRT460077	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT460076	hsa-miR-4306	PAR-CLIP	23592263
MIRT460074	hsa-miR-4644	PAR-CLIP	23592263
MIRT460075	hsa-miR-5192	PAR-CLIP	23592263
MIRT490268	hsa-miR-6502-3p	PAR-CLIP	23592263
MIRT490267	hsa-miR-4781-5p	PAR-CLIP	23592263
MIRT490266	hsa-miR-4787-5p	PAR-CLIP	23592263
MIRT490265	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT490264	hsa-miR-744-5p	PAR-CLIP	23592263
MIRT490263	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT490262	hsa-miR-6781-5p	PAR-CLIP	23592263
MIRT490261	hsa-miR-128-1-5p	PAR-CLIP	23592263
MIRT490260	hsa-miR-128-2-5p	PAR-CLIP	23592263
MIRT490259	hsa-miR-6835-5p	PAR-CLIP	23592263
MIRT490258	hsa-miR-197-5p	PAR-CLIP	23592263
MIRT490257	hsa-miR-3132	PAR-CLIP	23592263
MIRT490256	hsa-miR-3529-5p	PAR-CLIP	23592263
MIRT490255	hsa-miR-379-5p	PAR-CLIP	23592263
MIRT460089	hsa-miR-4773	PAR-CLIP	23592263
MIRT460088	hsa-miR-3919	PAR-CLIP	23592263
MIRT460087	hsa-miR-1252-5p	PAR-CLIP	23592263
MIRT460086	hsa-miR-4795-5p	PAR-CLIP	23592263
MIRT460085	hsa-miR-589-5p	PAR-CLIP	23592263
MIRT460084	hsa-miR-146a-5p	PAR-CLIP	23592263
MIRT460083	hsa-miR-146b-5p	PAR-CLIP	23592263
MIRT460082	hsa-miR-7153-5p	PAR-CLIP	23592263
MIRT460081	hsa-miR-6770-5p	PAR-CLIP	23592263
MIRT460080	hsa-miR-143-3p	PAR-CLIP	23592263
MIRT460079	hsa-miR-4770	PAR-CLIP	23592263
MIRT460078	hsa-miR-6088	PAR-CLIP	23592263
MIRT460077	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT460076	hsa-miR-4306	PAR-CLIP	23592263
MIRT460074	hsa-miR-4644	PAR-CLIP	23592263
MIRT460075	hsa-miR-5192	PAR-CLIP	23592263
MIRT1040302	hsa-miR-1184	CLIP-seq
MIRT1040303	hsa-miR-1205	CLIP-seq
MIRT1040304	hsa-miR-1909	CLIP-seq
MIRT1040305	hsa-miR-3125	CLIP-seq
MIRT1040306	hsa-miR-3158-5p	CLIP-seq
MIRT1040307	hsa-miR-3916	CLIP-seq
MIRT1040308	hsa-miR-627	CLIP-seq
MIRT1040309	hsa-miR-924	CLIP-seq
MIRT1040302	hsa-miR-1184	CLIP-seq
MIRT1040303	hsa-miR-1205	CLIP-seq
MIRT2240892	hsa-miR-1262	CLIP-seq
MIRT1040304	hsa-miR-1909	CLIP-seq
MIRT2240893	hsa-miR-1972	CLIP-seq
MIRT2240894	hsa-miR-31	CLIP-seq
MIRT1040306	hsa-miR-3158-5p	CLIP-seq
MIRT2240895	hsa-miR-4436b-3p	CLIP-seq
MIRT2240896	hsa-miR-4459	CLIP-seq
MIRT2240897	hsa-miR-4504	CLIP-seq
MIRT2240898	hsa-miR-4650-5p	CLIP-seq
MIRT2240899	hsa-miR-4701-3p	CLIP-seq
MIRT2240900	hsa-miR-4779	CLIP-seq
MIRT2240901	hsa-miR-549	CLIP-seq
MIRT1040308	hsa-miR-627	CLIP-seq
MIRT1040309	hsa-miR-924	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000334	Function	3-hydroxyanthranilate 3,4-dioxygenase activity	IBA
GO:0000334	Function	3-hydroxyanthranilate 3,4-dioxygenase activity	IDA	7514594, 12007609, 28792876
GO:0000334	Function	3-hydroxyanthranilate 3,4-dioxygenase activity	IEA
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 21044950, 25416956, 31515488, 32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	7514594
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006569	Process	L-tryptophan catabolic process	IEA
GO:0008198	Function	Ferrous iron binding	IDA	12007609, 28375145
GO:0008198	Function	Ferrous iron binding	IEA
GO:0009055	Function	Electron transfer activity	NAS	7514594
GO:0009435	Process	NAD+ biosynthetic process	IEA
GO:0009435	Process	NAD+ biosynthetic process	IMP	28792876
GO:0010043	Process	Response to zinc ion	IDA	12007609
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0019363	Process	Pyridine nucleotide biosynthetic process	IEA
GO:0019805	Process	Quinolinate biosynthetic process	IDA	28792876
GO:0019805	Process	Quinolinate biosynthetic process	IEA
GO:0019805	Process	Quinolinate biosynthetic process	NAS	7514594, 12007609
GO:0034354	Process	'de novo' NAD+ biosynthetic process from L-tryptophan	IBA
GO:0034354	Process	'de novo' NAD+ biosynthetic process from L-tryptophan	IEA
GO:0043420	Process	Anthranilate metabolic process	IEA
GO:0043648	Process	Dicarboxylic acid metabolic process	IEA
GO:0046686	Process	Response to cadmium ion	IDA	12007609
GO:0046872	Function	Metal ion binding	IEA
GO:0046874	Process	Quinolinate metabolic process	IBA
GO:0051213	Function	Dioxygenase activity	IEA
GO:0070050	Process	Neuron cellular homeostasis	IMP	2967497

MIM	HGNC	e!Ensembl
604521	4796	ENSG00000162882

P46952

Protein name

3-hydroxyanthranilate 3,4-dioxygenase (EC 1.13.11.6) (3-hydroxyanthranilate oxygenase) (3-HAO) (h3HAO) (3-hydroxyanthranilic acid dioxygenase) (HAD)

Protein function

Catalyzes the oxidative ring opening of 3-hydroxyanthranilate to 2-amino-3-carboxymuconate semialdehyde, which spontaneously cyclizes to quinolinate.

PDB

2QNK , 5TK5 , 5TKQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06052	3-HAO	1 → 149	3-hydroxyanthranilic acid dioxygenase	Domain

Sequence

MERRLGVRAWVKENRGSFQPPVCNKLMHQEQLKVMFIGGPNTRKDYHIEEGEEVFYQLEG
DMVLRVLEQGKHRDVVIRQGEIFLLPARVPHSPQRFANTVGLVVERRRLETELDGLRYYV
GDTMDVLFEKWFYCKDLGTQLAPIIQEFFSSEQYRTGKPIPDQLLKEPPFPLSTRSIMEP
MSLDAWLDSHHRELQAGTPLSLFGDTYETQVIAYGQGSSEGLRQNVDVWLWQLEGSSVVT
MGGRRLSLAPDDSLLVLAGTSYAWERTQGSVALSVTQDPACKKPLG

Sequence length

286

Interactions

View interactions

	KEGG		Reactome
	Tryptophan metabolism Metabolic pathways Biosynthesis of cofactors		Tryptophan catabolism

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital NAD deficiency disorder	Pathogenic; Likely pathogenic	rs1135401743, rs527656756, rs1363954556, rs1672152382, rs746702852, rs1558680405	RCV000496104 RCV000496188 RCV001391061 RCV001391060 RCV001391058 RCV001391059 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Vertebral, cardiac, renal, and limb defects syndrome 1	Likely pathogenic; Pathogenic	rs1227604776, rs2466896692, rs1135401743, rs527656756, rs1232096291, rs1363954556, rs1672152382, rs746702852, rs1558680405	RCV002244171 RCV003990817 RCV000505813 RCV000505810 RCV000991362 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CONGENITAL VERTEBRAL, CARDIAC, RENAL ANOMALIES SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL VERTEBRAL-CARDIAC-RENAL ANOMALIES SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HAAO-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOSPADIAS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (52)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Allanson Pantzar McLeod syndrome	Allanson Pantzar McLeod Syndrome	CLINVAR_DG	28792876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	34194442	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	CLINVAR_DG	28792876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	33767242	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	24938434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32390008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	CLINVAR_DG	28792876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital malformation syndrome	Congenital Malformation Syndrome	GENOMICS_ENGLAND_DG	28792876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital vertebral-cardiac-renal anomalies syndrome	Congenital Vertebral-Cardiac-Renal Anomalies Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Defect of vertebral segmentation	Abnormal spinal segmentation	CLINVAR_DG	28792876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	20211485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	20211485	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG	28792876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	CLINVAR_DG	28792876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	GWASCAT_DG	25108383		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypospadias	Hypospadias	BEFREE	30063927		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypospadias	Hypospadias	Pubtator	40547448	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Laryngeal web	Laryngeal web	CLINVAR_DG	28792876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	20211485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24938434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	GENOMICS_ENGLAND_DG	28792876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Olivopontocerebellar Atrophies	Olivopontocerebellar Atrophies	BEFREE	1825460		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	19724865	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	BEFREE	30063927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24938434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24938434	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	20580542	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	CLINVAR_DG	28792876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sacral agenesis	Sacral Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	CLINVAR_DG	28792876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	CLINVAR_DG	28792876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	CLINVAR_DG	28792876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Submucous cleft of hard palate	Submucosal cleft palate	CLINVAR_DG	28792876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	CLINVAR_DG	28792876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tethered Cord Syndrome	Primary Tethered cord syndrome	CLINVAR_DG	28792876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tethered Cord Syndrome	Primary Tethered cord syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1	Congenital vertebral-cardiac-renal anomalies syndrome	CLINVAR_DG	28792876		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1	Congenital vertebral-cardiac-renal anomalies syndrome	GENOMICS_ENGLAND_DG	28792876		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1	Congenital vertebral-cardiac-renal anomalies syndrome	ORPHANET_DG	28792876		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2	Congenital vertebral-cardiac-renal anomalies syndrome	ORPHANET_DG	28792876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	CLINVAR_DG	28792876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

HAAO (3-hydroxyanthranilate 3,4-dioxygenase)