BHMT2

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Group enriched (kidney, liver)
GTEx:Group enriched (kidney, liver)

Protein evidence

Evidence at protein level

Protein localization

Distinct expression in kidney and liver.

ANTIBODY RELIABILITY

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Data reliability
description

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

Data reliability

Supportive based on 1 antibody.
HPA044573
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Group enriched (kidney, liver)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (kidney, liver)

Organ

Expression



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

Cytoband

q14.1

Chromosome location (bp)

79069717 - 79089466

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000132840 (version 78.38)

Entrez gene

23743

UniProt

Q9H2M3 (UniProt - Evidence at protein level)

neXtProt

NX_Q9H2M3

Antibodypedia

BHMT2 antibodies


PROTEIN BROWSER

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ENST00000255192
 
ENST00000518666
 
ENST00000521567
 
 
 
 


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 » Show » 68 7.4 No 0