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

Identity

Alias_symbol (synonym)MGC72244
Other alias-
HGNC (Hugo) MTHFD2L
LocusID (NCBI) 441024
Atlas_Id 70548
Location 4q13.3  [Link to chromosome band 4q13]
Location_base_pair Starts at 75023829 and ends at 75168814 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
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

 


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]  chr4:75023829-75168814 [Contig_View]  MTHFD2L [Vega]
Ensembl hg38 (Hinxton)ENSG00000163738 [Gene_View]  chr4:75023829-75168814 [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 hg19 (UCSC)MTHFD2L  -     chr4:75023829-75168814 +  4q13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MTHFD2L  -     4q13.3   [Description]    (hg38-Dec_2013)
EnsemblMTHFD2L - 4q13.3 [CytoView hg19]  MTHFD2L - 4q13.3 [CytoView hg38]
Mapping of homologs : NCBIMTHFD2L [Mapview hg19]  MTHFD2L [Mapview hg38]
OMIM614047   
Gene and transcription
Genbank (Entrez)AI219460 AK021544 AK122799 AV720429 BC032771
RefSeq transcript (Entrez)NM_001004346 NM_001144978
RefSeq genomic (Entrez)NC_000004 NC_018915 NT_016354 NW_004929320
Consensus coding sequences : CCDS (NCBI)MTHFD2L
Cluster EST : UnigeneHs.740707 [ NCBI ]
CGAP (NCI)Hs.740707
Alternative Splicing GalleryENSG00000163738
Gene ExpressionMTHFD2L [ NCBI-GEO ]   MTHFD2L [ EBI - ARRAY_EXPRESS ]   MTHFD2L [ SEEK ]   MTHFD2L [ MEM ]
Gene Expression Viewer (FireBrowse)MTHFD2L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)441024
GTEX Portal (Tissue expression)MTHFD2L
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 ]   
PhosPhoSitePlusQ9H903
Domaine pattern : Prosite (Expaxy)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)MTHFD2L
DMDM Disease mutations441024
Blocks (Seattle)MTHFD2L
SuperfamilyQ9H903
Human Protein AtlasENSG00000163738
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  formate-tetrahydrofolate ligase activity  methenyltetrahydrofolate cyclohydrolase activity  methylenetetrahydrofolate dehydrogenase (NAD+) activity  methylenetetrahydrofolate dehydrogenase (NADP+) activity  mitochondrion  mitochondrial inner membrane  cytosol  purine nucleotide biosynthetic process  one-carbon metabolic process  methionine biosynthetic process  folic acid-containing compound biosynthetic process  tetrahydrofolate interconversion  oxidation-reduction process  
Ontology : EGO-EBIhistidine biosynthetic process  formate-tetrahydrofolate ligase activity  methenyltetrahydrofolate cyclohydrolase activity  methylenetetrahydrofolate dehydrogenase (NAD+) activity  methylenetetrahydrofolate dehydrogenase (NADP+) activity  mitochondrion  mitochondrial inner membrane  cytosol  purine nucleotide biosynthetic process  one-carbon metabolic process  methionine biosynthetic process  folic acid-containing compound biosynthetic process  tetrahydrofolate interconversion  oxidation-reduction process  
Pathways : KEGGOne carbon pool by folate   
NDEx NetworkMTHFD2L
Atlas of Cancer Signalling NetworkMTHFD2L
Wikipedia pathwaysMTHFD2L
Orthology - Evolution
OrthoDB441024
GeneTree (enSembl)ENSG00000163738
Phylogenetic Trees/Animal Genes : TreeFamMTHFD2L
HOVERGENQ9H903
HOGENOMQ9H903
Homologs : HomoloGeneMTHFD2L
Homology/Alignments : Family Browser (UCSC)MTHFD2L
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMTHFD2L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MTHFD2L
dbVarMTHFD2L
ClinVarMTHFD2L
1000_GenomesMTHFD2L 
Exome Variant ServerMTHFD2L
ExAC (Exome Aggregation Consortium)MTHFD2L (select the gene name)
Genetic variants : HAPMAP441024
Genomic Variants (DGV)MTHFD2L [DGVbeta]
DECIPHER (Syndromes)4:75023829-75168814  ENSG00000163738
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]  
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] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614047   
Orphanet
MedgenMTHFD2L
Genetic Testing Registry MTHFD2L
NextProtQ9H903 [Medical]
TSGene441024
GENETestsMTHFD2L
Huge Navigator MTHFD2L [HugePedia]
snp3D : Map Gene to Disease441024
BioCentury BCIQMTHFD2L
ClinGenMTHFD2L
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD441024
Chemical/Pharm GKB GenePA134943916
Clinical trialMTHFD2L
Miscellaneous
canSAR (ICR)MTHFD2L (select the gene name)
Probes
Litterature
PubMed6 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMTHFD2L
EVEXMTHFD2L
GoPubMedMTHFD2L
iHOPMTHFD2L
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 : Tue Mar 14 12:34:03 CET 2017

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