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BHMT2 betaine--homocysteine S-methyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 23743, updated on 21-Dec-2019

Summary

Official Symbol
BHMT2provided by HGNC
Official Full Name
betaine--homocysteine S-methyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:1048
See related
Ensembl:ENSG00000132840 MIM:605932
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Expression
Biased expression in kidney (RPKM 175.7), liver (RPKM 113.0) and 1 other tissue See more
Orthologs

Genomic context

See BHMT2 in Genome Data Viewer
Location:
5q14.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (79069767..79090069)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (78365547..78385897)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene arylsulfatase B Neighboring gene IMPACT pseudogene Neighboring gene dimethylglycine dehydrogenase Neighboring gene betaine--homocysteine S-methyltransferase Neighboring gene RNY3 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes.
NHGRI GWA Catalog
Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
NHGRI GWA Catalog
Genome-wide association study of selenium concentrations.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20001

Gene Ontology Provided by GOA

Process Evidence Code Pubs
L-methionine salvage IDA
Inferred from Direct Assay
more info
PubMed 
S-adenosylmethionine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
S-methylmethionine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
NOT amino-acid betaine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
methylation IEA
Inferred from Electronic Annotation
more info
 
sulfur amino acid metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 

General protein information

Preferred Names
S-methylmethionine--homocysteine S-methyltransferase BHMT2
Names
SMM-hcy methyltransferase
betaine-homocysteine methyltransferase 2
NP_001171476.1
NP_060084.2

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_029157.1 RefSeqGene

    Range
    5044..25346
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001178005.2NP_001171476.1  S-methylmethionine--homocysteine S-methyltransferase BHMT2 isoform 2

    See identical proteins and their annotated locations for NP_001171476.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the CDS, as compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 1.
    Source sequence(s)
    AC008502, AK298298, BC020665, CB140104
    Consensus CDS
    CCDS54871.1
    UniProtKB/Swiss-Prot
    Q9H2M3
    Related
    ENSP00000430278.1, ENST00000521567.1
    Conserved Domains (1) summary
    cl22882
    Location:23241
    S-methyl_trans; Homocysteine S-methyltransferase
  2. NM_017614.5NP_060084.2  S-methylmethionine--homocysteine S-methyltransferase BHMT2 isoform 1

    See identical proteins and their annotated locations for NP_060084.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC008502, BC020665, CB140104
    Consensus CDS
    CCDS4045.1
    UniProtKB/Swiss-Prot
    Q9H2M3
    UniProtKB/TrEMBL
    A0A024RAQ0
    Related
    ENSP00000255192.3, ENST00000255192.8
    Conserved Domains (1) summary
    pfam02574
    Location:23303
    S-methyl_trans; Homocysteine S-methyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    79069767..79090069
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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