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BHMT2

GENERAL INFORMATION

Gene name

 BHMT2

Gene description

 Betaine--homocysteine S-methyltransferase 2

Protein class

 Cancer-related genes
Enzymes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Group enriched (liver cancer, renal cancer)
HPA (cell line):Cell line enhanced (BJ hTERT+, Hep G2, U-87 MG)
HPA (normal tissue):Group enriched (kidney, liver)

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Distinct expression in kidney and liver.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data. Presumed off target binding observed and disregarded.

Reliability score

 Supported based on 1 antibody.
HPA044573
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PROGNOSTIC SUMMARY
Gene product is not prognostic.
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Group enriched (liver cancer, renal cancer)

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA044573

GENE INFORMATION

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

Cytoband

 q14.1

Chromosome location (bp)

 79069717 - 79089466

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000132840 (version 83.38)

Entrez gene

 23743

UniProt

 Q9H2M3 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9H2M3

Antibodypedia

 BHMT2 antibodies

PROTEIN BROWSER
BHMT2-001
BHMT2-002
BHMT2-003

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
BHMT2-001
ENSP00000255192
ENST00000255192
Q9H2M3 [Direct mapping]
S-methylmethionine--homocysteine S-methyltransferase BHMT2
A0A024RAQ0 [Target identity:100%; Query identity:100%]
Betaine-homocysteine methyltransferase 2, isoform CRA_c
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Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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GO:0000096 [sulfur amino acid metabolic process]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0008270 [zinc ion binding]
GO:0008898 [S-adenosylmethionine-homocysteine S-methyltransferase activity]
GO:0009086 [methionine biosynthetic process]
GO:0032259 [methylation]
GO:0033477 [S-methylmethionine metabolic process]
GO:0033528 [S-methylmethionine cycle]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0046500 [S-adenosylmethionine metabolic process]
GO:0047150 [betaine-homocysteine S-methyltransferase activity]
GO:0061627 [S-methylmethionine-homocysteine S-methyltransferase activity]
GO:0070062 [extracellular exosome]
GO:0071267 [L-methionine salvage]
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 363 aa
40.4 kDa 		No 0
BHMT2-002
ENSP00000430278
ENST00000521567
Q9H2M3 [Direct mapping]
S-methylmethionine--homocysteine S-methyltransferase BHMT2
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Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000096 [sulfur amino acid metabolic process]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0008270 [zinc ion binding]
GO:0008898 [S-adenosylmethionine-homocysteine S-methyltransferase activity]
GO:0009086 [methionine biosynthetic process]
GO:0032259 [methylation]
GO:0033477 [S-methylmethionine metabolic process]
GO:0033528 [S-methylmethionine cycle]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0046500 [S-adenosylmethionine metabolic process]
GO:0047150 [betaine-homocysteine S-methyltransferase activity]
GO:0061627 [S-methylmethionine-homocysteine S-methyltransferase activity]
GO:0070062 [extracellular exosome]
GO:0071267 [L-methionine salvage]
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 299 aa
33.2 kDa 		No 0
BHMT2-003
ENSP00000428640
ENST00000518666
E5RH96 [Direct mapping]
S-methylmethionine--homocysteine S-methyltransferase BHMT2
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Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
Protein evidence (Ezkurdia et al 2014)
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GO:0005829 [cytosol]
GO:0033528 [S-methylmethionine cycle]
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 68 aa
7.4 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.