CleftGeneDB-Search

Gene: Bhmt2

Basic information

Tag	Content
Uniprot ID	Q91WS4; B1B1C9; Q8C1U2; Q9EQE8;
Entrez ID	64918
Genbank protein ID	BAE26737.1; BAC41163.1; AAG41357.1; AAH13515.1;
Genbank nucleotide ID	NM_022884.2
Ensembl protein ID	ENSMUSP00000015941
Ensembl nucleotide ID	ENSMUSG00000042118
Gene name	S-methylmethionine--homocysteine S-methyltransferase BHMT2
Gene symbol	Bhmt2
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Involved in the regulation of homocysteine metabolism. Converts homocysteine to methionine using S-methylmethionine (SMM) as a methyl donor.
Sequence	MAPAGSTRAK KGILERLDSG EVVVGDSGFL FTLEKRGFVK AGLWTPEAVV EHPSAVRQLH 60 TEFLRAGADV LQTFTFSATE DNMASKWEAV NAAACDLAQE VAGGGGALVA GGICQTSLYK 120 YHKDETRIKN IFRLQLEVFA RKNVDFLIAE YFEHVEEAVW AVEVLREVGA PVAVTMCIGP 180 EGDMHDVTPG ECAVKLARAG ADIIGVNCRF GPWTSLQTMK LMKEGLRDAS LQAHLMVQCL 240 GFHTPDCGKG GFVDLPEYPF GLEPRVATRW DIQKYAREAY NLGIRYIGGC CGFEPYHIRA 300 IAEELAPERG FLPPASEKHG SWGSGLNMHT KPWIRARARR EYWENLLPAS GRPFCPSLSK 360 PDA 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.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	BHMT2	488934	E2RSV3			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	BHMT2		A0A452GA59			Capra hircus	Prediction	More>>
1:1 ortholog	BHMT2	23743	Q9H2M3			Homo sapiens	Publication	More>>
1:1 ortholog	Bhmt2	64918	Q91WS4			Mus musculus	Prediction	More>>
1:1 ortholog	BHMT2		A0A2I3TLY8			Pan troglodytes	Prediction	More>>
1:1 ortholog	bhmt-2	100523776	E7D6R3			Sus scrofa	Prediction	More>>
1:1 ortholog	Bhmt2		F1LMG2			Rattus norvegicus	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
BHMT2	rs625879G>T	PCR-RFLP	20662904
BHMT2	rs673752C>T	PCR-RFLP	20662904

Other genetic variants/mutations

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0008270	zinc ion binding	ISO
GO:0008898	S-adenosylmethionine-homocysteine S-methyltransferase activity	ISO
GO:0047150	betaine-homocysteine S-methyltransferase activity	IBA
GO:0061627	S-methylmethionine-homocysteine S-methyltransferase activity	ISO
GO:0061627	S-methylmethionine-homocysteine S-methyltransferase activity	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0009086	methionine biosynthetic process	ISO
GO:0032259	methylation	IEA
GO:0033477	S-methylmethionine metabolic process	ISO
GO:0046500	S-adenosylmethionine metabolic process	ISO
GO:0071267	L-methionine salvage	ISO

GO:Cellular Component

GO ID	GO Term	Evidence

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-MMU-1430728	Metabolism	IEA
R-MMU-1614635	Sulfur amino acid metabolism	IEA
R-MMU-71291	Metabolism of amino acids and derivatives	IEA

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0479	Metal-binding
KW-0489	Methyltransferase
KW-0597	Phosphoprotein
KW-1185	Reference proteome
KW-0808	Transferase
KW-0862	Zinc

Interpro

InterPro ID	InterPro Term
IPR017226	Betaine-hCys_S-MeTrfase_BHMT
IPR003726	HCY_dom
IPR036589	HCY_dom_sf

PROSITE

PROSITE ID	PROSITE Term
PS50970	HCY

Pfam

Pfam ID	Pfam Term
PF02574	S-methyl_trans

Protein-miRNA interaction