BHMT2 - betaine--homocysteine S-methyltransferase 2 Gene

Homo sapiens

Gene ID: 23743 | Gene type: protein coding

About BHMT2

Cytogenetic location: 5q14.1 Genomic coordinates (GRCh38): 5:79,069,767-79,090,069 (from NCBI)

This gene has 7 transcripts (splice variants), 289 orthologues and 4 paralogues. Biased expression in kidney (RPKM 175.7), liver (RPKM 113.0) and 1 other tissue.

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]

BHMT2 Products(2)

mRNA	Protein	Name
NM_001178005.2	NP_001171476.1	S-methylmethionine--homocysteine S-methyltransferase BHMT2 isoform 2
NM_017614.5	NP_060084.2	S-methylmethionine--homocysteine S-methyltransferase BHMT2 isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables S-methylmethionine-homocysteine S-methyltransferase activity	IDA IDA: Inferred from direct assay	18230605	GOA
NOT enables betaine-homocysteine S-methyltransferase activity	IDA IDA: Inferred from direct assay	18230605	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	18230605	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in L-methionine salvage	IDA IDA: Inferred from direct assay	18230605	GOA
involved in S-adenosylmethionine metabolic process	IDA IDA: Inferred from direct assay	18230605	GOA
involved in S-methylmethionine metabolic process	IDA IDA: Inferred from direct assay	18230605	GOA
NOT involved in amino-acid betaine metabolic process	IDA IDA: Inferred from direct assay	18230605	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BHMT2 Protein Structure

S-methyl_trans

0
100
200
300
363 a.a.

Protein Preferred Names

Protein Names

S-methylmethionine--homocysteine S-methyltransferase BHMT2

SMM-hcy methyltransferase

Related Diseases

Diseases

Alias

Paraneoplastic Polyneuropathy

Inflammatory And Toxic Neuropathy

Neural Tube Defects

Spina Bifida	Neural Tube Defect
NTD	Neural Tube Defects, Susceptibility To
Spinal Dysraphism	Spina Bifida, Susceptibility To
Rachischisis	Cleft Spine
Open Spine	Hydrocele Spinalis
Neural Tube Defect Nos	Sb - [Spina Bifida]
Spinal Hernia Nos	Spinal Fissure Nos

Orofacial Cleft

Cleft, Orofacial

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01496	BHMT2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	BHMT2	VGNC	VGNC:26489
Mus musculus	BHMT2	MGD	MGI:1891379
Rattus norvegicus	BHMT2	RGD	RGD:1359418
Macaca mulatta	BHMT2	VGNC	VGNC:70248
Canis familiaris	BHMT2	VGNC	VGNC:38448

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