Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4128
Gene name Gene Name - the full gene name approved by the HGNC.
Monoamine oxidase A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MAOA
Synonyms (NCBI Gene) Gene synonyms aliases
BRNRS, MAO-A
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp11.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is one of two neighboring gene family members that encode mitochondrial enzymes which catalyze the oxidative deamination of amines, such as dopamine, norepinephrine, and serotonin. Mutation of this gene results in Brunner syndrome. This gene has
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs72554632 C>T Pathogenic Coding sequence variant, stop gained
rs138703731 G>A Likely-benign, conflicting-interpretations-of-pathogenicity, benign Coding sequence variant, synonymous variant
rs587777457 G>T Pathogenic Missense variant, coding sequence variant
rs796065311 ->T Pathogenic Frameshift variant, coding sequence variant
rs796065312 C>T Pathogenic Missense variant, 5 prime UTR variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005902 hsa-miR-22-3p Luciferase reporter assay, Microarray 21168126
MIRT1127569 hsa-miR-1202 CLIP-seq
MIRT1127570 hsa-miR-1255a CLIP-seq
MIRT1127571 hsa-miR-1255b CLIP-seq
MIRT1127572 hsa-miR-197 CLIP-seq
Transcription factors
Transcription factor Regulation Reference
NHLH2 Activation 22169038
NR3C1 Unknown 16728402
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 28514442, 30021884, 33961781
GO:0005739 Component Mitochondrion HDA 20833797
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
309850 6833 ENSG00000189221
Protein
UniProt ID P21397
Protein name Amine oxidase [flavin-containing] A (EC 1.4.3.21) (EC 1.4.3.4) (Monoamine oxidase type A) (MAO-A)
Protein function Catalyzes the oxidative deamination of primary and some secondary amine such as neurotransmitters, with concomitant reduction of oxygen to hydrogen peroxide and has important functions in the metabolism of neuroactive and vasoactive amines in th
PDB 2BXR , 2BXS , 2Z5X , 2Z5Y
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01593 Amino_oxidase 23 460 Flavin containing amine oxidoreductase Domain
Tissue specificity TISSUE SPECIFICITY: Heart, liver, duodenum, blood vessels and kidney.
Sequence
Sequence length 527
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Glycine, serine and threonine metabolism
Arginine and proline metabolism
Histidine metabolism
Tyrosine metabolism
Phenylalanine metabolism
Tryptophan metabolism
Drug metabolism - cytochrome P450
Metabolic pathways
Serotonergic synapse
Dopaminergic synapse
Parkinson disease
Cocaine addiction
Amphetamine addiction
Alcoholism
  Biogenic amines are oxidatively deaminated to aldehydes by MAOA and MAOB
Norepinephrine Neurotransmitter Release Cycle
Enzymatic degradation of dopamine by COMT
Enzymatic degradation of Dopamine by monoamine oxidase
Metabolism of serotonin
Defective MAOA causes Brunner syndrome (BRUNS)
Interleukin-4 and Interleukin-13 signaling
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Brugada Syndrome brunner syndrome rs796065312, rs796065311, rs1135401773, rs72554632, rs587777457 N/A
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abuse dwarfism syndrome Associate 22030358
Acrophobia Associate 30169842
Adenocarcinoma of Lung Associate 34301211
Agoraphobia Associate 15670397
AIDS Associated Nephropathy Associate 24244526
Alcohol Related Disorders Associate 21628708, 22610759
Alcoholism Associate 17476365, 18454435, 20850185, 22030358, 22552845, 28345608, 29600412
Alzheimer Disease Associate 18454435, 26417591
Amyotrophic Lateral Sclerosis Associate 34194442
Amyotrophic lateral sclerosis 1 Associate 34194442