Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol BHMT contributors: mct - updated : 04-06-2007
HGNC name betaine-homocysteine methyltransferase
HGNC id 1047
Location 5q13.1-q15      Physical location : 78.407.603 - 78.428.112
EC.number 2.1.1.5
DNA
TYPE functioning gene
SPECIAL FEATURE head to head
STRUCTURE 20.00 kb     8 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter (TATA box)
MAPPING cloned Y linked N status provisional
Physical map
PDE8B 5q13.2 phosphodiesterase 8B ATQL1 5q14 antiquitin-like 1 FLJ10904 5q14.1 hypothetical protein FLJ10904 LOC391801 5 similar to ribosomal protein S2 LOC389305 5 similar to 60S ribosomal protein L7 OTP 5q13.3 orthopedia homolog (Drosophila) TBCA 5q13.3 tubulin-specific chaperone A ACTBP2 5q14.1 actin, beta pseudogene 2 AP3B1 5q12-q13.2 adaptor-related protein complex 3, beta 1 subunit SCAMP1 5q13.3-q14.1 secretory carrier membrane protein 1 LHFPL2 5q13.3 lipoma HMGIC fusion partner-like 2 ARSB 5q13 arylsulfatase B DMGDH 5q12.2-q12.3 arylsulfatase B BHMT2 5q13 betaine-homocysteine methyltransferase 2 BHMT 5q13.1-q15 betaine-homocysteine methyltransferase JMY 5q14.1 junction-mediating and regulatory protein HOMER1 5q25 homer homolog 1 (Drosophila) LOC133748 5q14.1 similar to 60S ribosomal protein L7a (Surfeit locus protein 3) (PLA-X polypeptide) FLJ38499 5q14.1 hypothetical protein FLJ38499 CMYA5 5q14.1 cardiomyopathy associated 5 LOC391802 5 similar to 60S ribosomal protein L10 (QM protein homolog) LOC345778 5q14.1 similar to hypothetical protein THBS4 5q13 thrombospondin 4 C5orf12 5 chromosome 5 open reading frame 12 LOC391803 5 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) LOC134478 5q14.1 similar to cytoplasmic beta-actin NYD-TSP1 5q14.1 testis-specific protein NYD-TSP1 LOC391804 5 similar to hypothetical protein LOC391805 5 hypothetical gene supported by NM_004269 LOC153817 5q14.1 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP) ZFYVE16 5p15.2-q14.3 zinc finger, FYVE domain containing 16 LOC167555 5q14.1 similar to AASA9217 LOC340120 5q14.1 similar to RIKEN cDNA 6430502M16 gene LOC389306 5 LOC389306 DBIL1 5pter-p15.32 diazepam binding inhibitor-like 1 DHFR 5q13.2 dihydrofolate reductase MSH3 5q11-q12 mutS homolog 3 (E. coli)
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver    
Urinarykidney    
Visualeyelens  highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
zinc-binding domains
conjugated MetalloP
HOMOLOGY
interspecies homolog to porcine BHMT
Homologene
FAMILY
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,cytosolic,microsome
basic FUNCTION
  • converting betaine to dimethylglycine
  • remethylating homocysteine to methionine along with methionine synthase
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, cofactor,
    zinc Zn2+
    protein can interact with BHMT2 in the cellular environment
    with at least partial stabilization of BHMT2
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to placental abruption
    Variant & Polymorphism other (742G >A) polymorphism associated to increased risk for placental abruption
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS