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MTHFD2 (methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase)

Identity

Other aliasNMDMC
HGNC (Hugo) MTHFD2
LocusID (NCBI) 10797
Atlas_Id 55046
Location 2p13.1  [Link to chromosome band 2p13]
Location_base_pair Starts at 74198563 and ends at 74215297 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
FNDC3A (13q14.2) / MTHFD2 (2p13.1)MTHFD2 (2p13.1) / TAF1B (2p25.1)

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)MTHFD2   7434
Cards
Entrez_Gene (NCBI)MTHFD2  10797  methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
AliasesNMDMC
GeneCards (Weizmann)MTHFD2
Ensembl hg19 (Hinxton)ENSG00000065911 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000065911 [Gene_View]  chr2:74198563-74215297 [Contig_View]  MTHFD2 [Vega]
ICGC DataPortalENSG00000065911
TCGA cBioPortalMTHFD2
AceView (NCBI)MTHFD2
Genatlas (Paris)MTHFD2
WikiGenes10797
SOURCE (Princeton)MTHFD2
Genetics Home Reference (NIH)MTHFD2
Genomic and cartography
GoldenPath hg38 (UCSC)MTHFD2  -     chr2:74198563-74215297 +  2p13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MTHFD2  -     2p13.1   [Description]    (hg19-Feb_2009)
EnsemblMTHFD2 - 2p13.1 [CytoView hg19]  MTHFD2 - 2p13.1 [CytoView hg38]
Mapping of homologs : NCBIMTHFD2 [Mapview hg19]  MTHFD2 [Mapview hg38]
OMIM604887   
Gene and transcription
Genbank (Entrez)AK130664 AK222826 AK223041 AK300035 AK302245
RefSeq transcript (Entrez)NM_001040409 NM_006636
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MTHFD2
Cluster EST : UnigeneHs.469030 [ NCBI ]
CGAP (NCI)Hs.469030
Alternative Splicing GalleryENSG00000065911
Gene ExpressionMTHFD2 [ NCBI-GEO ]   MTHFD2 [ EBI - ARRAY_EXPRESS ]   MTHFD2 [ SEEK ]   MTHFD2 [ MEM ]
Gene Expression Viewer (FireBrowse)MTHFD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10797
GTEX Portal (Tissue expression)MTHFD2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP13995   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP13995  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP13995
Splice isoforms : SwissVarP13995
Catalytic activity : Enzyme1.5.1.15 [ Enzyme-Expasy ]   1.5.1.151.5.1.15 [ IntEnz-EBI ]   1.5.1.15 [ BRENDA ]   1.5.1.15 [ KEGG ]   
PhosPhoSitePlusP13995
Domaine pattern : Prosite (Expaxy)THF_DHG_CYH_1 (PS00766)    THF_DHG_CYH_2 (PS00767)   
Domains : Interpro (EBI)NAD(P)-bd_dom    THF_DH/CycHdrlase    THF_DH/CycHdrlase_cat_dom    THF_DH/CycHdrlase_CS    THF_DH/CycHdrlase_NAD-bd_dom   
Domain families : Pfam (Sanger)THF_DHG_CYH (PF00763)    THF_DHG_CYH_C (PF02882)   
Domain families : Pfam (NCBI)pfam00763    pfam02882   
Conserved Domain (NCBI)MTHFD2
DMDM Disease mutations10797
Blocks (Seattle)MTHFD2
PDB (SRS)1ZN4    5TC4   
PDB (PDBSum)1ZN4    5TC4   
PDB (IMB)1ZN4    5TC4   
PDB (RSDB)1ZN4    5TC4   
Structural Biology KnowledgeBase1ZN4    5TC4   
SCOP (Structural Classification of Proteins)1ZN4    5TC4   
CATH (Classification of proteins structures)1ZN4    5TC4   
SuperfamilyP13995
Human Protein AtlasENSG00000065911
Peptide AtlasP13995
HPRD05351
IPIIPI00011307   IPI01015122   IPI00743626   IPI00916740   IPI00915768   IPI00947072   IPI00946561   
Protein Interaction databases
DIP (DOE-UCLA)P13995
IntAct (EBI)P13995
FunCoupENSG00000065911
BioGRIDMTHFD2
STRING (EMBL)MTHFD2
ZODIACMTHFD2
Ontologies - Pathways
QuickGOP13995
Ontology : AmiGOmagnesium ion binding  methenyltetrahydrofolate cyclohydrolase activity  methenyltetrahydrofolate cyclohydrolase activity  methenyltetrahydrofolate cyclohydrolase activity  methylenetetrahydrofolate dehydrogenase (NAD+) activity  methylenetetrahydrofolate dehydrogenase (NAD+) activity  methylenetetrahydrofolate dehydrogenase (NADP+) activity  extracellular space  mitochondrion  mitochondrion  mitochondrial matrix  cytosol  one-carbon metabolic process  folic acid-containing compound biosynthetic process  phosphate ion binding  tetrahydrofolate metabolic process  folic acid metabolic process  oxidation-reduction process  
Ontology : EGO-EBImagnesium ion binding  methenyltetrahydrofolate cyclohydrolase activity  methenyltetrahydrofolate cyclohydrolase activity  methenyltetrahydrofolate cyclohydrolase activity  methylenetetrahydrofolate dehydrogenase (NAD+) activity  methylenetetrahydrofolate dehydrogenase (NAD+) activity  methylenetetrahydrofolate dehydrogenase (NADP+) activity  extracellular space  mitochondrion  mitochondrion  mitochondrial matrix  cytosol  one-carbon metabolic process  folic acid-containing compound biosynthetic process  phosphate ion binding  tetrahydrofolate metabolic process  folic acid metabolic process  oxidation-reduction process  
Pathways : KEGGOne carbon pool by folate   
NDEx NetworkMTHFD2
Atlas of Cancer Signalling NetworkMTHFD2
Wikipedia pathwaysMTHFD2
Orthology - Evolution
OrthoDB10797
GeneTree (enSembl)ENSG00000065911
Phylogenetic Trees/Animal Genes : TreeFamMTHFD2
HOVERGENP13995
HOGENOMP13995
Homologs : HomoloGeneMTHFD2
Homology/Alignments : Family Browser (UCSC)MTHFD2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMTHFD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MTHFD2
dbVarMTHFD2
ClinVarMTHFD2
1000_GenomesMTHFD2 
Exome Variant ServerMTHFD2
ExAC (Exome Aggregation Consortium)MTHFD2 (select the gene name)
Genetic variants : HAPMAP10797
Genomic Variants (DGV)MTHFD2 [DGVbeta]
DECIPHERMTHFD2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMTHFD2 
Mutations
ICGC Data PortalMTHFD2 
TCGA Data PortalMTHFD2 
Broad Tumor PortalMTHFD2
OASIS PortalMTHFD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMTHFD2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMTHFD2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch MTHFD2
DgiDB (Drug Gene Interaction Database)MTHFD2
DoCM (Curated mutations)MTHFD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MTHFD2 (select a term)
intoGenMTHFD2
Cancer3DMTHFD2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604887   
Orphanet
MedgenMTHFD2
Genetic Testing Registry MTHFD2
NextProtP13995 [Medical]
TSGene10797
GENETestsMTHFD2
Huge Navigator MTHFD2 [HugePedia]
snp3D : Map Gene to Disease10797
BioCentury BCIQMTHFD2
ClinGenMTHFD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10797
Chemical/Pharm GKB GenePA31238
Clinical trialMTHFD2
Miscellaneous
canSAR (ICR)MTHFD2 (select the gene name)
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMTHFD2
EVEXMTHFD2
GoPubMedMTHFD2
iHOPMTHFD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:27:25 CEST 2017

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