Gene Gene information from NCBI Gene database.
Entrez ID 4128
Gene name Monoamine oxidase A
Gene symbol MAOA
Synonyms (NCBI Gene)
BRNRSMAO-A
Chromosome X
Chromosome location Xp11.3
Summary 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.
7
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.
156
miRTarBase ID miRNA Experiments Reference
MIRT005902 hsa-miR-22-3p Luciferase reporter assayMicroarray 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 factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
NHLH2 Activation 22169038
NR3C1 Unknown 16728402
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
309850 6833 ENSG00000189221
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
136
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Antisocial behavior, susceptibility to Pathogenic rs1346551029 RCV000010646
Autism, severe Pathogenic rs1346551029 RCV000010647
Brunner syndrome Pathogenic; Likely pathogenic rs2147107556, rs587777457, rs796065312, rs796065311, rs72554632, rs2519132239, rs1135401773, rs2033551253 RCV001388308
RCV000128399
RCV000190424
RCV000190423
RCV000010645
RCV004560486
RCV000496099
RCV004799617
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability Conflicting classifications of pathogenicity; Uncertain significance; Likely benign rs777420059, rs2033892290, rs2033460975 RCV001252572
RCV001252573
RCV001252571
MAOA-related disorder Uncertain significance; Benign rs202232897, rs140960519, rs2519161693, rs2519170577, rs58524323 RCV003913460
RCV003420456
RCV003397811
RCV003969864
RCV003960171
Nonpapillary renal cell carcinoma Uncertain significance rs2519144831, rs775232342 RCV005931990
RCV005936621
See cases Conflicting classifications of pathogenicity rs144688481 RCV002252664
Associations from Text MiningDisease 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