• Gene id: 23743

Gene Summary

• Gene Symbol: BHMT2   Gene   UCSC   Ensembl
• Gene name: betaine--homocysteine S-methyltransferase 2
• Alternate names: S-methylmethionine--homocysteine S-methyltransferase BHMT2, SMM-hcy methyltransferase, betaine-homocysteine methyltransferase 2,
• Gene location: 5q14.1 (79069766: 79090068)     Exons: 8     NC_000005.10
• Gene summary(Entrez): 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 i
• OMIM: 605932

Protein Summary

• Protein general information: Q9H2M3  
  • Name: S methylmethionine homocysteine S methyltransferase BHMT2 (SMM hcy methyltransferase) (EC 2.1.1.10) (Betaine homocysteine S methyltransferase 2)
  • Length: 363  
  • Mass: 40354
  • Tissue specificity: Expressed in liver and kidney and at reduced levels in the brain, heart, and skeletal muscle. {ECO
• Sequence:

  MAPAGRPGAKKGILERLESGEVVIGDGSFLITLEKRGYVKAGLWTPEAVIEHPDAVRQLHMEFLRAGSNVMQTFT
  FSASEDNMESKWEDVNAAACDLAREVAGKGDALVAGGICQTSIYKYQKDEARIKKLFRQQLEVFAWKNVDFLIAE
  YFEHVEEAVWAVEVLKESDRPVAVTMCIGPEGDMHDITPGECAVRLVKAGASIVGVNCRFGPDTSLKTMELMKEG
  LEWAGLKAHLMVQPLGFHAPDCGKEGFVDLPEYPFGLESRVATRWDIQKYAREAYNLGVRYIGGCCGFEPYHIRA
  IAEELAPERGFLPPASEKHGSWGSGLDMHTKPWIRARARREYWENLLPASGRPFCPSLSKPDF

• Structural information:
  • Protein Domains: (11..30-)
    (/note="Hcy-binding-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00333"-)
  • Interpro: IPR017226  IPR003726  IPR036589  
  • Prosite: PS50970
  • STRING: ENSP00000255192
• Other Databases: GeneCards:  BHMT2  Malacards:  BHMT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061627	S-methylmethionine-homocysteine S-methyltransferase activity	IBA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0009086	methionine biosynthetic process	IEA	biological process
GO:0032259	methylation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0000096	sulfur amino acid metabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0061627	S-methylmethionine-homocysteine S-methyltransferase activity	IDA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0047150	betaine-homocysteine S-methyltransferase activity	IDA	NOT|molecular function
GO:0071267	L-methionine salvage	IDA	biological process
GO:0006577	amino-acid betaine metabolic process	IDA	NOT|biological process
GO:0033477	S-methylmethionine metabolic process	IDA	biological process
GO:0046500	S-adenosylmethionine metabolic process	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00270	Cysteine and methionine metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq