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BHMT2 (betaine--homocysteine S-methyltransferase 2)

Identity

Other alias-
HGNC (Hugo) BHMT2
LocusID (NCBI) 23743
Atlas_Id 53650
Location 5q14.1  [Link to chromosome band 5q14]
Location_base_pair Starts at 79069724 and ends at 79090074 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Small Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)BHMT2   1048
Cards
Entrez_Gene (NCBI)BHMT2  23743  betaine--homocysteine S-methyltransferase 2
Aliases
GeneCards (Weizmann)BHMT2
Ensembl hg19 (Hinxton)ENSG00000132840 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000132840 [Gene_View]  chr5:79069724-79090074 [Contig_View]  BHMT2 [Vega]
ICGC DataPortalENSG00000132840
TCGA cBioPortalBHMT2
AceView (NCBI)BHMT2
Genatlas (Paris)BHMT2
WikiGenes23743
SOURCE (Princeton)BHMT2
Genetics Home Reference (NIH)BHMT2
Genomic and cartography
GoldenPath hg38 (UCSC)BHMT2  -     chr5:79069724-79090074 +  5q14.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BHMT2  -     5q14.1   [Description]    (hg19-Feb_2009)
EnsemblBHMT2 - 5q14.1 [CytoView hg19]  BHMT2 - 5q14.1 [CytoView hg38]
Mapping of homologs : NCBIBHMT2 [Mapview hg19]  BHMT2 [Mapview hg38]
OMIM605932   
Gene and transcription
Genbank (Entrez)AF257473 AK000008 AK298298 AK315520 BC020665
RefSeq transcript (Entrez)NM_001178005 NM_017614
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BHMT2
Cluster EST : UnigeneHs.114172 [ NCBI ]
CGAP (NCI)Hs.114172
Alternative Splicing GalleryENSG00000132840
Gene ExpressionBHMT2 [ NCBI-GEO ]   BHMT2 [ EBI - ARRAY_EXPRESS ]   BHMT2 [ SEEK ]   BHMT2 [ MEM ]
Gene Expression Viewer (FireBrowse)BHMT2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23743
GTEX Portal (Tissue expression)BHMT2
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
Splice isoforms : SwissVarQ9H2M3
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 ]   
PhosPhoSitePlusQ9H2M3
Domaine pattern : Prosite (Expaxy)HCY (PS50970)   
Domains : Interpro (EBI)Betaine-hCys_S-MeTrfase_BHMT    HCY_dom   
Domain families : Pfam (Sanger)S-methyl_trans (PF02574)   
Domain families : Pfam (NCBI)pfam02574   
Conserved Domain (NCBI)BHMT2
DMDM Disease mutations23743
Blocks (Seattle)BHMT2
SuperfamilyQ9H2M3
Human Protein AtlasENSG00000132840
Peptide AtlasQ9H2M3
HPRD12069
IPIIPI00014363   IPI00922635   IPI00983972   IPI00974204   
Protein Interaction databases
DIP (DOE-UCLA)Q9H2M3
IntAct (EBI)Q9H2M3
FunCoupENSG00000132840
BioGRIDBHMT2
STRING (EMBL)BHMT2
ZODIACBHMT2
Ontologies - Pathways
QuickGOQ9H2M3
Ontology : AmiGOsulfur amino acid metabolic process  cytosol  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-EBIsulfur amino acid metabolic process  cytosol  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
HOVERGENQ9H2M3
HOGENOMQ9H2M3
Homologs : HomoloGeneBHMT2
Homology/Alignments : Family Browser (UCSC)BHMT2
Gene fusions - Rearrangements
Fusion : MitelmanBIRC6/BHMT2 [2p22.3/5q14.1]  [t(2;5)(p22;q14)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBHMT2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BHMT2
dbVarBHMT2
ClinVarBHMT2
1000_GenomesBHMT2 
Exome Variant ServerBHMT2
ExAC (Exome Aggregation Consortium)BHMT2 (select the gene name)
Genetic variants : HAPMAP23743
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]  
Mutations and Diseases : HGMDBHMT2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch BHMT2
DgiDB (Drug Gene Interaction Database)BHMT2
DoCM (Curated mutations)BHMT2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BHMT2 (select a term)
intoGenBHMT2
Cancer3DBHMT2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605932   
Orphanet
MedgenBHMT2
Genetic Testing Registry BHMT2
NextProtQ9H2M3 [Medical]
TSGene23743
GENETestsBHMT2
Target ValidationBHMT2
Huge Navigator BHMT2 [HugePedia]
snp3D : Map Gene to Disease23743
BioCentury BCIQBHMT2
ClinGenBHMT2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23743
Chemical/Pharm GKB GenePA25351
Clinical trialBHMT2
Miscellaneous
canSAR (ICR)BHMT2 (select the gene name)
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBHMT2
EVEXBHMT2
GoPubMedBHMT2
iHOPBHMT2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:25:32 CEST 2017

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