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MTHFD2L (methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like)

Identity

Alias (NCBI)-
HGNC (Hugo) MTHFD2L
HGNC Alias symbMGC72244
LocusID (NCBI) 441024
Atlas_Id 70548
Location 4q13.3  [Link to chromosome band 4q13]
Location_base_pair Starts at 74158108 and ends at 74162258 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)
ANKRD12 (18p11.22) / MTHFD2L (4q13.3)LGALS1 (22q13.1) / MTHFD2L (4q13.3)ZDHHC20 (13q12.11) / MTHFD2L (4q13.3)

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 ]
  t(4;18)(q13;p11) ANKRD12/MTHFD2L


External links

Nomenclature
HGNC (Hugo)MTHFD2L   31865
Cards
Entrez_Gene (NCBI)MTHFD2L  441024  methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like
Aliases
GeneCards (Weizmann)MTHFD2L
Ensembl hg19 (Hinxton)ENSG00000163738 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163738 [Gene_View]  ENSG00000163738 [Sequence]  chr4:74158108-74162258 [Contig_View]  MTHFD2L [Vega]
ICGC DataPortalENSG00000163738
TCGA cBioPortalMTHFD2L
AceView (NCBI)MTHFD2L
Genatlas (Paris)MTHFD2L
WikiGenes441024
SOURCE (Princeton)MTHFD2L
Genetics Home Reference (NIH)MTHFD2L
Genomic and cartography
GoldenPath hg38 (UCSC)MTHFD2L  -     chr4:74158108-74162258 +  4q13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MTHFD2L  -     4q13.3   [Description]    (hg19-Feb_2009)
GoldenPathMTHFD2L - 4q13.3 [CytoView hg19]  MTHFD2L - 4q13.3 [CytoView hg38]
ImmunoBaseENSG00000163738
genome Data Viewer NCBIMTHFD2L [Mapview hg19]  
OMIM614047   
Gene and transcription
Genbank (Entrez)AI219460 AK021544 AK122799 AV720429 BC032771
RefSeq transcript (Entrez)NM_001004346 NM_001144978 NM_001351310 NM_001351311 NM_001351314 NM_001351329 NM_001351331
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MTHFD2L
Alternative Splicing GalleryENSG00000163738
Gene ExpressionMTHFD2L [ NCBI-GEO ]   MTHFD2L [ EBI - ARRAY_EXPRESS ]   MTHFD2L [ SEEK ]   MTHFD2L [ MEM ]
Gene Expression Viewer (FireBrowse)MTHFD2L [ Firebrowse - Broad ]
GenevisibleExpression of MTHFD2L in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)441024
GTEX Portal (Tissue expression)MTHFD2L
Human Protein AtlasENSG00000163738-MTHFD2L [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H903   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H903  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H903
Splice isoforms : SwissVarQ9H903
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 ]   [ MEROPS ]
PhosPhoSitePlusQ9H903
Domaine pattern : Prosite (Expaxy)THF_DHG_CYH_2 (PS00767)   
Domains : Interpro (EBI)NAD(P)-bd_dom_sf    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)MTHFD2L
DMDM Disease mutations441024
Blocks (Seattle)MTHFD2L
SuperfamilyQ9H903
Human Protein Atlas [tissue]ENSG00000163738-MTHFD2L [tissue]
Peptide AtlasQ9H903
HPRD17608
IPIIPI00873515   IPI00746020   IPI00017391   IPI01010844   IPI00217665   IPI00927816   
Protein Interaction databases
DIP (DOE-UCLA)Q9H903
IntAct (EBI)Q9H903
FunCoupENSG00000163738
BioGRIDMTHFD2L
STRING (EMBL)MTHFD2L
ZODIACMTHFD2L
Ontologies - Pathways
QuickGOQ9H903
Ontology : AmiGOhistidine biosynthetic process  methenyltetrahydrofolate cyclohydrolase activity  methylenetetrahydrofolate dehydrogenase (NAD+) activity  methylenetetrahydrofolate dehydrogenase (NADP+) activity  mitochondrial inner membrane  mitochondrial matrix  purine nucleotide biosynthetic process  methionine biosynthetic process  10-formyltetrahydrofolate metabolic process  tetrahydrofolate interconversion  tetrahydrofolate interconversion  folic acid metabolic process  oxidation-reduction process  
Ontology : EGO-EBIhistidine biosynthetic process  methenyltetrahydrofolate cyclohydrolase activity  methylenetetrahydrofolate dehydrogenase (NAD+) activity  methylenetetrahydrofolate dehydrogenase (NADP+) activity  mitochondrial inner membrane  mitochondrial matrix  purine nucleotide biosynthetic process  methionine biosynthetic process  10-formyltetrahydrofolate metabolic process  tetrahydrofolate interconversion  tetrahydrofolate interconversion  folic acid metabolic process  oxidation-reduction process  
NDEx NetworkMTHFD2L
Atlas of Cancer Signalling NetworkMTHFD2L
Wikipedia pathwaysMTHFD2L
Orthology - Evolution
OrthoDB441024
GeneTree (enSembl)ENSG00000163738
Phylogenetic Trees/Animal Genes : TreeFamMTHFD2L
HOGENOMQ9H903
Homologs : HomoloGeneMTHFD2L
Homology/Alignments : Family Browser (UCSC)MTHFD2L
Gene fusions - Rearrangements
Fusion : QuiverMTHFD2L
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMTHFD2L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MTHFD2L
dbVarMTHFD2L
ClinVarMTHFD2L
1000_GenomesMTHFD2L 
Exome Variant ServerMTHFD2L
GNOMAD BrowserENSG00000163738
Varsome BrowserMTHFD2L
Genetic variants : HAPMAP441024
Genomic Variants (DGV)MTHFD2L [DGVbeta]
DECIPHERMTHFD2L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMTHFD2L 
Mutations
ICGC Data PortalMTHFD2L 
TCGA Data PortalMTHFD2L 
Broad Tumor PortalMTHFD2L
OASIS PortalMTHFD2L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMTHFD2L  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMTHFD2L
Mutations and Diseases : HGMDMTHFD2L
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 MTHFD2L
DgiDB (Drug Gene Interaction Database)MTHFD2L
DoCM (Curated mutations)MTHFD2L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MTHFD2L (select a term)
intoGenMTHFD2L
Cancer3DMTHFD2L(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614047   
Orphanet
DisGeNETMTHFD2L
MedgenMTHFD2L
Genetic Testing Registry MTHFD2L
NextProtQ9H903 [Medical]
TSGene441024
GENETestsMTHFD2L
Target ValidationMTHFD2L
Huge Navigator MTHFD2L [HugePedia]
snp3D : Map Gene to Disease441024
BioCentury BCIQMTHFD2L
ClinGenMTHFD2L
Clinical trials, drugs, therapy
Protein Interactions : CTD441024
Pharm GKB GenePA134943916
Clinical trialMTHFD2L
Miscellaneous
canSAR (ICR)MTHFD2L (select the gene name)
HarmonizomeMTHFD2L
DataMed IndexMTHFD2L
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMTHFD2L
EVEXMTHFD2L
GoPubMedMTHFD2L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Aug 22 19:28:18 CEST 2020

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