Flavin-Containing Monooxygenase 2

Alternative Names

  • FMO2
  • FMO, Pulmonary
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OMIM Number

603955

NCBI Gene ID

2327

Uniprot ID

Q99518

Length

27,479 bases

No. of Exons

10

No. of isoforms

1

Protein Name

Dimethylaniline monooxygenase [N-oxide-forming] 2

Molecular Mass

60907 Da

Amino Acid Count

535

Genomic Location

chr1:171,185,207-171,212,685

Gene Map Locus
1q24.3

Description

This gene encodes a flavin-containing monooxygenase family member. It is an NADPH-dependent enzyme that catalyzes the N-oxidation of some primary alkylamines through an N-hydroxylamine intermediate. However, some human populations contain an allele (FMO2*2A) with a premature stop codon, resulting in a protein that is C-terminally-truncated, has no catalytic activity, and is likely degraded rapidly. This gene is found in a cluster with other related family members on chromosome 1. Alternative splicing results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001460.3:c.211_213dupLebanonNC_000001.11:g.171193413_171193415dupDrug ResponseBreast CancerNM_001460.3:c.211_213dup; NP_001451.1:p.Asp71dup2020868
NM_001460.5:c.1239T>GLebanonNC_000001.11:g.171207773T>GDrug ResponseBreast CancerNM_001460.5:c.1239T>G; NP_001451.2:p.Asn413Lys2020865
NM_001460.5:c.242T>CLebanonNC_000001.11:g.171193444T>CDrug ResponseBreast CancerNM_001460.5:c.242T>C; NP_001451.2:p.Phe81Ser2020860
NM_001460.5:c.337delLebanonNC_000001.11:g.171196664delBenignDrug ResponseBreast CancerNM_001460.5:c.337del; NP_001451.2:p.Ser112_Val113insTer28369860402870
NM_001460.5:c.941A>GLebanonNC_000001.11:g.171205392A>GDrug ResponseBreast CancerNM_001460.5:c.941A>G; NP_001451.2:p.Glu314Gly2020863
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