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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MTHFD2 Gene

protein-coding   GIFtS: 63
GCID: GC02P074425

Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent)...

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 2,
Methenyltetrahydrofolate Cyclohydrolase1 2
NMDMC2 3
Bifunctional Methylenetetrahydrofolate Dehydrogenase/Cyclohydrolase,
Mitochondrial2
NAD-Dependent Methylene Tetrahydrofolate Dehydrogenase Cyclohydrolase2

External Ids:    HGNC: 74341   Entrez Gene: 107972   Ensembl: ENSG000000659117   OMIM: 6048875   UniProtKB: P139953   
ORGUL members:         
NONCODE14:n407850      

Export aliases for MTHFD2 gene to outside databases

Previous GC identifers: GC02P074563 GC02P074638 GC02P074383 GC02P074400 GC02P074337 GC02P074095 GC02P074161


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MTHFD2 Gene:
This gene encodes a nuclear-encoded mitochondrial bifunctional enzyme with methylenetetrahydrofolate dehydrogenase
and methenyltetrahydrofolate cyclohydrolase activities. The enzyme functions as a homodimer and is unique in its
absolute requirement for magnesium and inorganic phosphate. Formation of the enzyme-magnesium complex allows
binding of NAD. Alternative splicing results in two different transcripts, one protein-coding and the other not
protein-coding. This gene has a pseudogene on chromosome 7. (provided by RefSeq, Mar 2009)

GeneCards Summary for MTHFD2 Gene: 
MTHFD2 (methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with MTHFD2 include follicular lymphoma, and spina bifida, and among its related super-pathways are One carbon pool by folate and Histidine catabolism. GO annotations related to this gene include phosphate ion binding and nucleotide binding. An important paralog of this gene is MTHFD2L.

Gene Wiki entry for MTHFD2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_022184.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MTHFD2 gene promoter:
         C/EBPbeta   p53   NF-YA   YY1   NF-YB   CBF-B   CBF-A   CP1A   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMTHFD2 promoter sequence
   Search SABiosciences Chromatin IP Primers for MTHFD2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MTHFD2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p13.1   Ensembl cytogenetic band:  2p13.1   HGNC cytogenetic band: 2p13.1

MTHFD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MTHFD2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P074425:  view genomic region     (about GC identifiers)

Start:
74,425,689 bp from pter      End:
74,444,692 bp from pter
Size:
19,004 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MTDC_HUMAN, P13995 (See protein sequence)
Recommended Name: Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial precursor  
Size: 350 amino acids; 37895 Da
Cofactor: Magnesium
Subunit: Homodimer
Subcellular location: Mitochondrion
Developmental stage: Expressed only in developing normal tissues
Miscellaneous: This NAD-dependent bifunctional enzyme has very different kinetic properties than the larger
NADP-dependent trifunctional enzyme and is unique in that it requires formation of an enzyme-magnesium complex to
allow binding of NAD
Sequence caution: Sequence=AAX93061.1; Type=Erroneous initiation; Sequence=BAD96546.1; Type=Erroneous initiation;
Sequence=BAD96761.1; Type=Erroneous initiation; Sequence=CAA34431.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for MTHFD2:
1ZN4 (3D)    
Secondary accessions: Q53G90 Q53GV5 Q53S36

Explore the universe of human proteins at neXtProt for MTHFD2: NX_P13995

Explore proteomics data for MTHFD2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P13995

  • MTHFD2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MTHFD2 Protein Expression
    REFSEQ proteins: NP_006627.2  
    ENSEMBL proteins: 
     ENSP00000377617   ENSP00000386536   ENSP00000419067   ENSP00000419550   ENSP00000386542  
     ENSP00000264090   ENSP00000377614  

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    Cloud-Clone Corp. Proteins for MTHFD2 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ISS8218174
    GO:0005829NOT cytosol IBA--

    MTHFD2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR020631 THF_DH/CycHdrlase_NAD-bd_dom
     IPR020630 THF_DH/CycHdrlase_cat_dom
     IPR020867 THF_DH/CycHdrlase_CS
     IPR016040 NAD(P)-bd_dom
     IPR000672 THF_DH/CycHdrlase

    Graphical View of Domain Structure for InterPro Entry P13995

    ProtoNet protein and cluster: P13995

    1 Blocks protein domain: IPB000672 Tetrahydrofolate dehydrogenase/cyclohydrolase

    UniProtKB/Swiss-Prot: MTDC_HUMAN, P13995
    Similarity: Belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family


    MTHFD2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MTDC_HUMAN, P13995
    Catalytic activity: 5,10-methylenetetrahydrofolate + NAD(+) = 5,10-methenyltetrahydrofolate + NADH
    Catalytic activity: 5,10-methenyltetrahydrofolate + H(2)O = 10-formyltetrahydrofolate

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IDA8218174
    GO:0003824catalytic activity ----
    GO:0004329NOT formate-tetrahydrofolate ligase activity IBA--
    GO:0004477methenyltetrahydrofolate cyclohydrolase activity ISS8218174
    GO:0004487methylenetetrahydrofolate dehydrogenase (NAD+) activity IDA8218174
         
    MTHFD2 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for MTHFD2:
     Decreased TP53 protein express  Decreased number of cells in m  Increased G1 DNA content 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mthfd2):
     embryogenesis  growth/size  liver/biliary system  mortality/aging 

    MTHFD2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mthfd2tm1Rmk for MTHFD2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MTHFD2 
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    SwitchGear 3'UTR luciferase reporter plasmidMTHFD2 3' UTR sequence
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MTHFD2 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1One Carbon Metabolism
    One carbon pool by folate0.53
    One Carbon Metabolism0.53
    2Histidine catabolism
    histidine degradation III0.57
    3glycine biosynthesis I
    folate transformations I0.43
    4Metabolism
    Metabolic pathways0.40
    5tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate
    tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5 BioSystems Pathways for MTHFD2
        One Carbon Metabolism
    histidine degradation III
    Nucleotide Metabolism
    tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate
    folate transformations I


    2         Kegg Pathways  (Kegg details for MTHFD2):
        One carbon pool by folate
    Metabolic pathways


    MTHFD2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MTHFD2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    5/26 Interacting proteins for MTHFD2 (P139951, 3 ENSP000003776174) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PSMD13Q9UNM61, 3, ENSP000003969374EBI-1058895,EBI-356070 I2D: score=2 STRING: ENSP00000396937
    PARP3Q9Y6F11, 3, ENSP000003817404EBI-1058895,EBI-1045281 I2D: score=2 STRING: ENSP00000381740
    MINOS1Q5TGZ03, ENSP000003255624I2D: score=1 STRING: ENSP00000325562
    BECN1Q144573I2D: score=1 
    CAMKK2Q96RR43I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006730one-carbon metabolic process IBA--
    GO:0009396folic acid-containing compound biosynthetic process IEA--
    GO:0009408response to heat IEA--
    GO:0046653tetrahydrofolate metabolic process IDA8218174
    GO:0055114oxidation-reduction process ----

    MTHFD2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MTHFD2 (MTDC)

    10/13 HMDB Compounds for MTHFD2 (see all 13)    About this table
    CompoundSynonyms CAS #PubMed Ids
    5,10-Methenyltetrahydrofolic acid5,10-Methenyltetrahydrofolate (see all 13)7444-29-3--
    5,10-Methylene-THF5,10-methylene-THF (see all 8)31690-11-6--
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Formic acidAdd-F (see all 21)64-18-6--
    MagnesiumMagnesium (see all 2)7439-95-4--
    N10-Formyl-THF10-formyl-THF (see all 20)2800-34-2--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--

    2 DrugBank Compounds for MTHFD2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423
    Tetrahydrofolic acid5,6,7,8-tetrahydrofolate (see all 3)135-16-0targetcofactor12949177

    Search CenterWatch for drugs/clinical trials and news about MTHFD2 / MTDC

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MTHFD2 gene (2 alternative transcripts): 
    NM_006636.3  NM_001040409.1  

    Unigene Cluster for MTHFD2:

    Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
    Hs.469030  [show with all ESTs]
    Unigene Representative Sequence: NR_027405
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000394053(uc002skj.3 uc002skk.3 uc010yro.2 uc010yrp.2)
    ENST00000409804 ENST00000470592 ENST00000477455 ENST00000489041 ENST00000409601
    ENST00000488086 ENST00000462026 ENST00000264090 ENST00000394050
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AK130664.1 AK222826.1 AK223041.1 AK300035.1 AK302245.1 AK313138.1 BC001548.1 BC015062.1 
    BC017054.1 NR_027405.1 X16396.1 

    18 DOTS entries:

    DT.109844  DT.100844953  DT.92451858  DT.445439  DT.100729969  DT.120983537  DT.91740301  DT.100844949 
    DT.120983650  DT.95256889  DT.120983571  DT.120983690  DT.120983689  DT.100844946  DT.100729968  DT.100844952 
    DT.40248332  DT.92451855 

    24/570 AceView cDNA sequences (see all 570):

    BM757137 AU142307 CD109122 CB124593 BG493177 BC001548 BM459309 BU630649 
    BM457454 BQ877304 CB119535 BQ421390 BM927167 BM757070 CB266219 BQ020379 
    BM888023 BU180750 AA962299 BE467565 AU132851 BQ223121 AA314740 AA831189 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for MTHFD2 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10 ^ 11a · 11b · 11c
    SP1:                    -                 -     -     -                                                                                       
    SP2:                                      -     -     -                                                                                       
    SP3:                    -     -     -     -     -     -                                                                                       
    SP4:                    -                 -     -     -                 -     -     -                                                         
    SP5:                                                                                                                                          


    ECgene alternative splicing isoforms for MTHFD2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MTHFD2 expression in normal human tissues (normalized intensities)      MTHFD2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTGTTGTCA
    MTHFD2 Expression
    About this image


    MTHFD2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/23 selected tissues (see all 23) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Thalamus
             ganglion/cranial   
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Basal Cells Respiratory Bronchioles
             Trachea
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Cardiac Myocytes   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon

    See MTHFD2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MTHFD2

    SOURCE GeneReport for Unigene cluster: Hs.469030
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MTHFD2 gene from 9/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mthfd21 , 5 methylenetetrahydrofolate dehydrogenase (NAD+ dependent), more1, 5 85.62(n)1
    92(a)1
      6 (35.94 cM)5
    177681  NM_008638.21  NP_032664.11 
     833056915 
    chicken
    (Gallus gallus)
    Aves MTHFD21 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) more 77.71(n)
    86.12(a)
      426126  NM_001031360.1  NP_001026531.1 
    lizard
    (Anolis carolinensis)
    Reptilia MTHFD26
    Uncharacterized protein
    79(a)
    1 ↔ 1
    GL343968.1(97529-109776)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA988172.12   -- 75.59(n)    CA988172.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570547552   -- 74.9(n)    57054755 
    fruit fly
    (Drosophila melanogaster)
    Insecta Nmdmc1 , 3 methenyltetrahydrofolate
    cyclohydrolase3
    NAD-dependent methylenetetrahydrofolate dehydrogenase1
    56(a)3
    57.21(n)1
    57.43(a)1
      85C33
    478951  NM_057581.41  NP_476929.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MIS16
    Mitochondrial C1-tetrahydrofolate synthase, involv...
    14(a)
    1 → many
    II(411054-413981)
    soybean
    (Glycine max)
    eudicotyledons BM091952.12   -- 75.39(n)    BM091952.1 
    rice
    (Oryza sativa)
    Liliopsida Os.70672 Oryza sativa (japonica cultivar-group) cDNA clone0 more 76.46(n)    AK059603.1 


    ENSEMBL Gene Tree for MTHFD2 (if available)
    TreeFam Gene Tree for MTHFD2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MTHFD2 gene
    MTHFD2L2  
    4 SIMAP similar genes for MTHFD2 using alignment to 7 protein entries:     MTDC_HUMAN (see all proteins):
    tmp_locus_16    MTHFD2L    MTHFD1    MTHFD1L

    MTHFD2 for paralogs           About GeneDecksing


    5/8 Pseudogenes.org Pseudogenes for MTHFD2 (see all 8)
    PGOHUM00000258715 PGOHUM00000237687 PGOHUM00000238276 PGOHUM00000259960 PGOHUM00000235204


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/456 SNPs in MTHFD2 are shown (see all 456)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1510379041,2
    C--74294950(+) CATTA-/TTTTTT 2 -- us2k10--------
    rs748945011,2
    C,F--74295146(+) GAAGCA/GAGAAA 2 -- us2k11Minor allele frequency- G:0.05EA 120
    rs1450637801,2
    C--74295153(+) AAAGA-/GGAAAA 2 -- us2k10--------
    rs1846217331,2
    --74295169(+) AAGACA/GAAAAG 2 -- us2k10--------
    rs778866151,2
    F--74295230(+) CTAGGC/ATCCTT 2 -- us2k11Minor allele frequency- A:0.04NA 120
    rs1891834851,2
    --74295273(+) CATGGC/TCTTGG 2 -- us2k10--------
    rs1816850711,2
    --74295351(+) TTGTGA/GATAGA 2 -- us2k10--------
    rs1867357911,2
    --74295405(+) TTCCTA/GGACAG 2 -- us2k10--------
    rs1911783221,2
    --74295485(+) ACTCAC/TTGGTT 2 -- us2k10--------
    rs126186651,2
    C,H--74295493(+) GTTTAG/AGAAAA 2 -- us2k15Minor allele frequency- A:0.00NS EA NA 420

    HapMap Linkage Disequilibrium report for MTHFD2 (74425689 - 74444692 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for MTHFD2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv874286CNV Loss21882294
    nsv834261CNV Loss17160897

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604887    OMIM disorders: --

    14 diseases for MTHFD2:    About MalaCards
    follicular lymphoma    spina bifida    diffuse large b-cell lymphoma    esophageal adenocarcinoma
    b-cell lymphomas    intrahepatic cholangiocarcinoma    cholangiocarcinoma    pneumonia
    tuberculosis    esophagitis    adenocarcinoma    endotheliitis
    lung cancer    prostatitis


    MTHFD2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MTHFD2
    Human Genome Epidemiology (HuGE) Navigator: MTHFD2 (16 documents)

    Export disorders for MTHFD2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MTHFD2 gene, integrated from 9 sources (see all 44):
    (articles sorted by number of sources associating them with MTHFD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Nucleotide sequence of the human NAD-dependent methylene tetrahydrofolate dehydrogenase-cyclohydrolase. (PubMed id 2587219)1, 2, 3 Peri K.G.... Mackenzie R.E. (1989)
    2. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (2010)
    3. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    4. Genetic susceptibility to distinct bladder cancer sub phenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (2010)
    5. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (2010)
    6. An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1). (PubMed id 19161160)1, 4 Franke B....Blom H.J. (2009)
    7. 118 SNPs of folate-related genes and risks of spina b ifida and conotruncal heart defects. (PubMed id 19493349)1, 4 Shaw G.M....Finnell R.H. (2009)
    8. PTEN identified as important risk factor of chronic o bstructive pulmonary disease. (PubMed id 19625176)1, 4 Hosgood H.D....Lan Q. (2009)
    9. Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study. (PubMed id 19048631)1, 4 Boyles A.L....Lie R.T. (2009)
    10. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PubMed id 19170196)1, 4 Shen M....Lan Q. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10797 HGNC: 7434 AceView: MTHFD2 Ensembl:ENSG00000065911 euGenes: HUgn10797
    ECgene: MTHFD2 Kegg: 10797 H-InvDB: MTHFD2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MTHFD2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MTHFD2 gene:
    Search GeneIP for patents involving MTHFD2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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