BHMT2

Protein identityUniProt · HPA

UniProt accession

Q9H2M3

Gene

BHMT2

Ensembl

ENSG00000132840

Chromosome

5

Canonical length

363 aa

Protein class

Cancer-related genes, Enzymes, Metabolic proteins, Predicted intracellular proteins

Quaternary structure

Homotetramer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

363 residues, UniProt reviewed canonical sequence.

>Q9H2M3|BHMT2
     1  MAPAGRPGAK KGILERLESG EVVIGDGSFL ITLEKRGYVK AGLWTPEAVI EHPDAVRQLH
    61  MEFLRAGSNV MQTFTFSASE DNMESKWEDV NAAACDLARE VAGKGDALVA GGICQTSIYK
   121  YQKDEARIKK LFRQQLEVFA WKNVDFLIAE YFEHVEEAVW AVEVLKESDR PVAVTMCIGP
   181  EGDMHDITPG ECAVRLVKAG ASIVGVNCRF GPDTSLKTME LMKEGLEWAG LKAHLMVQPL
   241  GFHAPDCGKE GFVDLPEYPF GLESRVATRW DIQKYAREAY NLGVRYIGGC CGFEPYHIRA
   301  IAEELAPERG FLPPASEKHG SWGSGLDMHT KPWIRARARR EYWENLLPAS GRPFCPSLSK
   361  PDF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BHMT2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.24

Highest tissue expression

402 nTPM

Expression across tissuesHPA

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.64

gnomAD pLI

0

gnomAD missense Z

0.68

DepMap mean gene effect

-0.01

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• L-methionine salvage
• methylation
• S-adenosylmethionine metabolic process
• S-methylmethionine metabolic process

Molecular functions

• zinc ion binding
• S-methylmethionine-homocysteine S-methyltransferase activity

Cellular components

• cytosol
• extracellular exosome

Protein domainsUniProt · Pfam · InterPro

• Homocysteine-binding domain
• Betaine-homocysteine S-methyltransferase-like
• Homocysteine-binding domain superfamily
• Betaine-homocysteine S-methyltransferase
• Homocysteine S-methyltransferase

KeywordsUniProt

• Metal-binding
• Methyltransferase
• Phosphoprotein
• Transferase
• Zinc