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FLASH GENE
Symbol BHMT2 contributors: mct - updated : 07-04-2020
HGNC name betaine-homocysteine methyltransferase 2
HGNC id 1048
Location 5q14.1      Physical location : 78.365.546 - 78.385.897
Synonym symbol(s) FLJ20001
EC.number 2.1.1.10
DNA
TYPE functioning gene
STRUCTURE 20.30 kb     8 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
regionally located near BHMT
RNA
TRANSCRIPTS type messenger
text resulting from alternative polyadenylation and/or alternative splicing
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 2411 - 299 - 2015 26213999
8 - 2603 - 363 - 2015 26213999
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver    
Endocrinepancreas    
Nervousbrain   moderately
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
zinc-binding domains
conjugated MetalloP
HOMOLOGY
interspecies homolog to murine Bhmt2
intraspecies homolog to BHMT
Homologene
FAMILY
CATEGORY enzyme
SUBCELLULAR LOCALIZATION extracellular
    intracellular
intracellular,cytoplasm,cytosolic,microsome
basic FUNCTION
  • converting beta
  • ne to dimethylglycine, remethylating homocysteine to methionine
  • zinc metalloenzyme that uses S-methylmethionine (SMM) as a methyl donor for the methylation of homocysteine
  • BHMT and BHMT2 convert homocysteine to methionine using betaine and S-methylmethionine, respectively, as methyl donor substrates
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    homocysteine
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    zinc Zn2+
    protein
  • can interact with BHMT in the cellular environment with at least partial stabilization of BHMT2
  • YWHAE-BHMT interaction is lost in the presence of low salt concentrations, whereas the BHMT2-BHMT interaction remains stable
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to nonsyndromic cleft lip with or without cleft palate (NSCL/P)
    Variant & Polymorphism
  • polymorphism rs3797546 in the BHMT gene may confer genetic risk of NSCL/P in a recessive manner
  • Candidate gene candidate gene for non-syndromic cleft lip with or without cleft palate (NSCL/P)
    Marker
    Therapy target
    ANIMAL & CELL MODELS