MAOB
protein-codingmonoamine oxidase B
Gene summary
The protein encoded by this gene belongs to the flavin monoamine oxidase family. It is a enzyme located in the mitochondrial outer membrane. It catalyzes the oxidative deamination of biogenic and xenobiotic amines and plays an important role in the metabolism of neuroactive and vasoactive amines in the central nervous sysytem and peripheral tissues. This protein preferentially degrades benzylamine and phenylethylamine. [provided by RefSeq, Jul 2008]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~115.8 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
Inheritance Pattern: AD
Disease ID:MONDO:0006497
Submitter: PanelApp Australia
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to MAOB variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_000898.5. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 9 | 3 | 4 | 16 | ||
| missense | 80 | 3 | 83 | |||
| nonsense | 3 | 3 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 20 | 20 | ||||
| Total | 0 | 0 | 112 | 6 | 4 | 122 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_000889.3 | 15 | MANE Select | |
| Ensembl | ENSP00000367309.4 | 15 | MANE Select | |
| Ensembl | ENSP00000560365.1 | 14 | Standard | |
| Ensembl | ENSP00000560365.1 | 14 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Tryptophan metabolism - Homo sapiens (human)
- Arginine and proline metabolism - Homo sapiens (human)
- Serotonergic synapse - Homo sapiens (human)
- Dopaminergic synapse - Homo sapiens (human)
- Phenylalanine metabolism - Homo sapiens (human)
Biological Process
- response to aluminum ion
- response to selenium ion
- negative regulation of serotonin secretion
- substantia nigra development
- electron transport chain
Molecular Function
- primary amine oxidase activity
- electron transfer activity
- protein homodimerization activity
- flavin adenine dinucleotide binding
Cellular Component
- mitochondrion
- mitochondrial envelope
- mitochondrial outer membrane
- integral component of membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000378069
- Coding exons
- 15
- Length
- 115836
- Individuals with no LoFs
- 125072
- Homozygous LoFs
- 2
- Heterozygous LoFs
- 0
- Defined
- 125074
- p
- 0.00000800
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.75 | 118 | 185 | 0.638 | 0.0000135 | 3358 |
| Missense (PolyPhen) | 18 | 64.934 | 0.2772 | 1111 | ||
| Synonymous | -0.564 | 73 | 67.1 | 1.09 | 0.00000490 | 1010 |
| Loss of Function | 4.16 | 0 | 20.1 | 0.00 | 0.00000147 | 375 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0.00013 | 0.00010 | rare |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0 | 0.0 | absent |
| South Asian | 0.000055 | 0.000033 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Catalyzes the oxidative deamination of biogenic and xenobiotic amines and has important functions in the metabolism of neuroactive and vasoactive amines in the central nervous system and peripheral tissues. MAOB preferentially degrades benzylamine and phenylethylamine.;
Recessive Scores
- pRec
- 0.481
Intolerance Scores
- LoFtool
- 0.0976
- RVIS EVS
- -0.63
- RVIS percentile EVS
- 17.03
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.979
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |