| Tag | Content |
|---|---|
| Uniprot ID | Q9H2M3; B7Z516; Q9NXX7; |
| Entrez ID | 23743 |
| Genbank protein ID | AAG41356.1; BAH12752.1; BAA90880.1; AAH20665.1; |
| Genbank nucleotide ID | NM_001178005.1; NM_017614.4; |
| Ensembl protein ID | ENSP00000255192; ENSP00000430278; |
| Ensembl nucleotide ID | ENSG00000132840 |
| Gene name | S-methylmethionine--homocysteine S-methyltransferase BHMT2 |
| Gene symbol | BHMT2 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 20662904 |
| Functional description | Involved in the regulation of homocysteine metabolism. Converts homocysteine to methionine using S-methylmethionine (SMM) as a methyl donor. |
| Sequence | MAPAGRPGAK KGILERLESG EVVIGDGSFL ITLEKRGYVK AGLWTPEAVI EHPDAVRQLH 60 MEFLRAGSNV MQTFTFSASE DNMESKWEDV NAAACDLARE VAGKGDALVA GGICQTSIYK 120 YQKDEARIKK LFRQQLEVFA WKNVDFLIAE YFEHVEEAVW AVEVLKESDR PVAVTMCIGP 180 EGDMHDITPG ECAVRLVKAG ASIVGVNCRF GPDTSLKTME LMKEGLEWAG LKAHLMVQPL 240 GFHAPDCGKE GFVDLPEYPF GLESRVATRW DIQKYAREAY NLGVRYIGGC CGFEPYHIRA 300 IAEELAPERG FLPPASEKHG SWGSGLDMHT KPWIRARARR EYWENLLPAS GRPFCPSLSK 360 PDF 363 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.