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Gene : BHMT2 Homo sapiens

Name  ? betaine--homocysteine S-methyltransferase 2 Cytological Location  5q14.1
Brief Description  betaine--homocysteine S-methyltransferase 2
Description  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]
  • synonyms:
  • NM_017614,
  • HGNC:1048,
  • BHMT2,
  • uc003kft.4,
  • OTTHUMG00000108158
  • identifiers:
  • 23743,
  • ENSG00000132840,
  • BHMT2

Genome feature

Region: gene ? Length: 20303  
Location: 5:79069767-79090069 Cyto location: 5q14.1


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> GO terms.

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

3756 SN Ps

5 Cross References

15 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results