Bhmt2 betaine-homocysteine methyltransferase 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bhmt2provided by MGI
Official Full Name: betaine-homocysteine methyltransferase 2provided by MGI
Primary source: MGI:MGI:1891379
See related: Ensembl:ENSMUSG00000042118 AllianceGenome:MGI:1891379
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: D13Ucla2
Summary: Predicted to enable S-adenosylmethionine-homocysteine S-methyltransferase activity; S-methylmethionine-homocysteine S-methyltransferase activity; and zinc ion binding activity. Predicted to be involved in L-methionine salvage; S-adenosylmethionine metabolic process; and S-methylmethionine metabolic process. Predicted to act upstream of or within methionine biosynthetic process. Predicted to be active in cytosol. Is expressed in several structures, including alimentary system; brain; cochlea; future brain; and liver. Human ortholog(s) of this gene implicated in congenital heart disease. Orthologous to human BHMT2 (betaine--homocysteine S-methyltransferase 2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in liver adult (RPKM 63.9), liver E18 (RPKM 58.7) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 C3; 13 47.88 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (93792605..93810810, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (93656097..93674302, complement)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BHMT plays a central role in the homeostasis of cochlear methionine metabolism and Bhmt2 up-regulation could carry out a compensatory role in cochlear protection against noise injury in the absence of BHMT
Title: Betaine-homocysteine S-methyltransferase deficiency causes increased susceptibility to noise-induced hearing loss associated with plasma hyperhomocysteinemia.
the mouse liver extracts, containing the BHMT-2 homocysteine methyltransferase candidate for a similar activity, recognizes (S,S)-AdoMet but not (R,S)-AdoMet.
Title: Yeast, plants, worms, and flies use a methyltransferase to metabolize age-damaged (R,S)-AdoMet, but what do mammals do?
Betaine-homocysteine methyltransferase 2 (Bhmt2) was identified as a diet-dependent genetic factor that affected susceptibility to acetaminophen-induced liver toxicity in mice.
Title: An integrative genomic analysis identifies Bhmt2 as a diet-dependent genetic factor protecting against acetaminophen-induced liver toxicity.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables S-adenosylmethionine-homocysteine S-methyltransferase activity	ISO Inferred from Sequence Orthology more info	PubMed
enables S-methylmethionine-homocysteine S-methyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables S-methylmethionine-homocysteine S-methyltransferase activity	IEA Inferred from Electronic Annotation more info
enables S-methylmethionine-homocysteine S-methyltransferase activity	ISO Inferred from Sequence Orthology more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info
enables zinc ion binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in L-methionine salvage	IBA Inferred from Biological aspect of Ancestor more info
involved_in L-methionine salvage	IEA Inferred from Electronic Annotation more info
involved_in L-methionine salvage	ISO Inferred from Sequence Orthology more info
involved_in S-adenosylmethionine metabolic process	IEA Inferred from Electronic Annotation more info
involved_in S-adenosylmethionine metabolic process	ISO Inferred from Sequence Orthology more info
involved_in S-methylmethionine metabolic process	IEA Inferred from Electronic Annotation more info
involved_in S-methylmethionine metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within methionine biosynthetic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in methylation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: S-methylmethionine--homocysteine S-methyltransferase BHMT2

Names: SMM-hcy methyltransferase; betaine--homocysteine S-methyltransferase 2

NP_075022.2

EC 2.1.1.10

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.