Atlas of Genetics and Cytogenetics in Oncology and Haematology


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BHMT2 (betaine--homocysteine S-methyltransferase 2)

Identity

Alias (NCBI)-
HGNC (Hugo) BHMT2
LocusID (NCBI) 23743
Atlas_Id 53650
Location 5q14.1  [Link to chromosome band 5q14]
Location_base_pair Starts at 79069767 and ends at 79090069 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
BHMT2 (5q14.1)::SPTLC3 (20p12.1)BIRC6 (2p22.3)::BHMT2 (5q14.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)BHMT2   1048
Cards
Entrez_Gene (NCBI)BHMT2    betaine--homocysteine S-methyltransferase 2
Aliases
GeneCards (Weizmann)BHMT2
Ensembl hg19 (Hinxton)ENSG00000132840 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000132840 [Gene_View]  ENSG00000132840 [Sequence]  chr5:79069767-79090069 [Contig_View]  BHMT2 [Vega]
ICGC DataPortalENSG00000132840
TCGA cBioPortalBHMT2
AceView (NCBI)BHMT2
Genatlas (Paris)BHMT2
SOURCE (Princeton)BHMT2
Genetics Home Reference (NIH)BHMT2
Genomic and cartography
GoldenPath hg38 (UCSC)BHMT2  -     chr5:79069767-79090069 +  5q14.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BHMT2  -     5q14.1   [Description]    (hg19-Feb_2009)
GoldenPathBHMT2 - 5q14.1 [CytoView hg19]  BHMT2 - 5q14.1 [CytoView hg38]
ImmunoBaseENSG00000132840
Genome Data Viewer NCBIBHMT2 [Mapview hg19]  
OMIM605932   
Gene and transcription
Genbank (Entrez)AF257473 AK000008 AK298298 AK315520 BC020665
RefSeq transcript (Entrez)NM_001178005 NM_017614
Consensus coding sequences : CCDS (NCBI)BHMT2
Gene ExpressionBHMT2 [ NCBI-GEO ]   BHMT2 [ EBI - ARRAY_EXPRESS ]   BHMT2 [ SEEK ]   BHMT2 [ MEM ]
Gene Expression Viewer (FireBrowse)BHMT2 [ Firebrowse - Broad ]
GenevisibleExpression of BHMT2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23743
GTEX Portal (Tissue expression)BHMT2
Human Protein AtlasENSG00000132840-BHMT2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H2M3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H2M3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H2M3
Catalytic activity : Enzyme2.1.1.10 [ Enzyme-Expasy ]   2.1.1.102.1.1.10 [ IntEnz-EBI ]   2.1.1.10 [ BRENDA ]   2.1.1.10 [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusQ9H2M3
Domaine pattern : Prosite (Expaxy)HCY (PS50970)   
Domains : Interpro (EBI)Betaine-hCys_S-MeTrfase_BHMT    HCY_dom    HCY_dom_sf   
Domain families : Pfam (Sanger)S-methyl_trans (PF02574)   
Domain families : Pfam (NCBI)pfam02574   
Conserved Domain (NCBI)BHMT2
SuperfamilyQ9H2M3
AlphaFold pdb e-kbQ9H2M3   
Human Protein Atlas [tissue]ENSG00000132840-BHMT2 [tissue]
HPRD12069
Protein Interaction databases
DIP (DOE-UCLA)Q9H2M3
IntAct (EBI)Q9H2M3
BioGRIDBHMT2
STRING (EMBL)BHMT2
ZODIACBHMT2
Ontologies - Pathways
QuickGOQ9H2M3
Ontology : AmiGOcytosol  amino-acid betaine metabolic process  zinc ion binding  methylation  S-methylmethionine metabolic process  S-adenosylmethionine metabolic process  betaine-homocysteine S-methyltransferase activity  S-methylmethionine-homocysteine S-methyltransferase activity  S-methylmethionine-homocysteine S-methyltransferase activity  extracellular exosome  L-methionine salvage  
Ontology : EGO-EBIcytosol  amino-acid betaine metabolic process  zinc ion binding  methylation  S-methylmethionine metabolic process  S-adenosylmethionine metabolic process  betaine-homocysteine S-methyltransferase activity  S-methylmethionine-homocysteine S-methyltransferase activity  S-methylmethionine-homocysteine S-methyltransferase activity  extracellular exosome  L-methionine salvage  
NDEx NetworkBHMT2
Atlas of Cancer Signalling NetworkBHMT2
Wikipedia pathwaysBHMT2
Orthology - Evolution
OrthoDB23743
GeneTree (enSembl)ENSG00000132840
Phylogenetic Trees/Animal Genes : TreeFamBHMT2
Homologs : HomoloGeneBHMT2
Homology/Alignments : Family Browser (UCSC)BHMT2
Gene fusions - Rearrangements
Fusion : MitelmanBIRC6::BHMT2 [2p22.3/5q14.1]  
Fusion : QuiverBHMT2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBHMT2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BHMT2
dbVarBHMT2
ClinVarBHMT2
MonarchBHMT2
1000_GenomesBHMT2 
Exome Variant ServerBHMT2
GNOMAD BrowserENSG00000132840
Varsome BrowserBHMT2
ACMGBHMT2 variants
VarityQ9H2M3
Genomic Variants (DGV)BHMT2 [DGVbeta]
DECIPHERBHMT2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBHMT2 
Mutations
ICGC Data PortalBHMT2 
TCGA Data PortalBHMT2 
Broad Tumor PortalBHMT2
OASIS PortalBHMT2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBHMT2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DBHMT2
Mutations and Diseases : HGMDBHMT2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaBHMT2
DgiDB (Drug Gene Interaction Database)BHMT2
DoCM (Curated mutations)BHMT2
CIViC (Clinical Interpretations of Variants in Cancer)BHMT2
Cancer3DBHMT2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605932   
Orphanet
DisGeNETBHMT2
MedgenBHMT2
Genetic Testing Registry BHMT2
NextProtQ9H2M3 [Medical]
GENETestsBHMT2
Target ValidationBHMT2
Huge Navigator BHMT2 [HugePedia]
ClinGenBHMT2
Clinical trials, drugs, therapy
MyCancerGenomeBHMT2
Protein Interactions : CTDBHMT2
Pharm GKB GenePA25351
PharosQ9H2M3
Clinical trialBHMT2
Miscellaneous
canSAR (ICR)BHMT2
HarmonizomeBHMT2
ARCHS4BHMT2
DataMed IndexBHMT2
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXBHMT2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Thu Jan 20 12:24:30 CET 2022

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