BHMT2

GENE INFORMATION

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Gene name

BHMT2

Synonyms

Description

betaine--homocysteine S-methyltransferase 2 (HGNC Symbol)

Entrez gene summary

Homocysteine is a sulfur-containing amino acid that plays a crucial role in methylation reactions. Transfer of the methyl group from betaine to homocysteine creates methionine, which donates the methyl group to methylate DNA, proteins, lipids, and other intracellular metabolites. The protein encoded by this gene is one of two methyl transferases that can catalyze the transfer of the methyl group from betaine to homocysteine. Anomalies in homocysteine metabolism have been implicated in disorders ranging from vascular disease to neural tube birth defects such as spina bifida. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

Chromosome

5 (Chromosome progress)

Cytoband

q14.1

Chromosome location (bp)

78365540 - 78385289

Ensembl

ENSG00000132840 (version 73.37)

Entrez gene

23743

UniProt

Q9H2M3 (UniProt - Evidence at protein level)

neXtProt

NX_Q9H2M3

Antibodypedia

BHMT2 antibodies
 

PROTEIN VIEW

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BHMT2-001
 
BHMT2-002
 
BHMT2-003
 
BHMT2-005
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

BHMT2-001 ENSP00000255192
ENST00000255192
Q9H2M3
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Show » Show » 363 40.4 No 0
BHMT2-002 ENSP00000430278
ENST00000521567
Q9H2M3
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Show » Show » 299 33.2 No 0
BHMT2-003 ENSP00000428640
ENST00000518666
E5RH96
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Show » 68 7.4 No 0
BHMT2-005 ENSP00000430155
ENST00000519743
E5RGH5
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58 6.3 No 0