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MTHFD2 Gene

protein-coding   GIFtS: 61
GCID: GC02P074425

Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent)...

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

Export aliases for MTHFD2 gene to outside databases

Previous GC identifers: GC02P074563 GC02P074638 GC02P074383 GC02P074400 GC02P074337 GC02P074095 GC02P074161


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include formate-tetrahydrofolate ligase activity and magnesium ion 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_022184.16  NC_018913.2  
Regulatory elements:
   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 Chromatin IP Primers for MTHFD2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MTHFD2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

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    antibodies-online proteins for MTHFD2 (4 products) 

     
    antibodies-online peptides for MTHFD2

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with MTHFD2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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
         
    Find genes that share ontologies with MTHFD2           About GenesLikeMe


    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/body  liver/biliary system  mortality/aging 

    Find genes that share phenotypes with MTHFD2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Mthfd2tm1Rmk for MTHFD2

       genOway: Develop your customized and physiologically relevant rodent model for MTHFD2

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    miRTarBase miRNAs that target MTHFD2:
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    Block miRNA regulation of human, mouse, rat MTHFD2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MTHFD2 (see all 27):
    hsa-miR-100* hsa-miR-509-5p hsa-miR-25 hsa-miR-4299 hsa-miR-373* hsa-miR-4275 hsa-miR-9 hsa-miR-34b
    SwitchGear 3'UTR luciferase reporter plasmidMTHFD2 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MTDC_HUMAN, P13995: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005739mitochondrion ISS8218174
    GO:0005829NOT cytosol IBA--

    Find genes that share ontologies with MTHFD2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for MTHFD2 About    
    See pathways by source

    SuperPathContained pathways About
    1One carbon pool by folate
    One carbon pool by folate0.53
    Trans-sulfuration and one carbon metabolism0.43
    One Carbon Metabolism0.53
    2folate polyglutamylation
    folate transformations0.43
    3Metabolism
    Metabolic pathways0.38
    4Nucleotide Metabolism
    Nucleotide Metabolism


    Find genes that share SuperPaths with MTHFD2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for MTHFD2
        One Carbon Metabolism
    folate transformations
    Nucleotide Metabolism
    Trans-sulfuration and one carbon metabolism



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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MTHFD2
    Interactions:

        Search GeneGlobe Interaction Network for MTHFD2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MTHFD2 (P139951, 3 ENSP000003776174) via UniProtKB, MINT, STRING, and/or I2D (see all 53)
    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:    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 ----
    GO:0046653tetrahydrofolate metabolic process IDA8218174
    GO:0055114oxidation-reduction process ----

    Find genes that share ontologies with MTHFD2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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      Browse compounds at ApexBio 

    Browse Tocris compounds for MTHFD2 (MTDC)

    Selected 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



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
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    hsa-miR-100* hsa-miR-509-5p hsa-miR-25 hsa-miR-4299 hsa-miR-373* hsa-miR-4275 hsa-miR-9 hsa-miR-34b
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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 

    Selected AceView cDNA sequences (see all 570):

    AA312596 BQ932744 BM907409 BQ646929 BU153114 AU122231 BQ643760 AI423141 
    BM983261 BX341613 AA743094 BM989251 AI762124 BU190182 CA487882 AI368178 
    BQ642241 AA343955 AI683945 BQ434579 AU117473 BM471568 BQ082038 BQ437224 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MTHFD2 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Basal Cells Respiratory Bronchioles
             Trachea
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Thymus (Hematopoietic System)
             Thymus
     
     NULL (Uncategorized)
             Mesenchymal Progenitor Cells - Passage 2
    MTHFD2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MTHFD2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.469030
        Custom PCR Arrays for MTHFD2
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    In Situ
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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MTHFD2 gene from Selected 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 77.53(n)
    85.58(a)
      426126  NM_001031360.1  NP_001026531.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    80(a)
    many ↔ many
    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_057581.51  NP_476929.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ADE36
    Cytoplasmic trifunctional enzyme C1-tetrahydrofola...
    13(a)
    1 → many
    VII(905934-908774) YGR204W
    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)
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    Paralogs for MTHFD2 gene
    MTHFD2L2  MTHFD12  MTHFD1L2  
    4 SIMAP similar genes for MTHFD2 using alignment to 7 protein entries:     MTDC_HUMAN (see all proteins):
    tmp_locus_16    MTHFD2L    MTHFD1    MTHFD1L

    Find genes that share paralogs with MTHFD2           About GenesLikeMe


    Selected 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MTHFD2 (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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MTHFD2
    DNA2.0 Custom Variant and Variant Library Synthesis for MTHFD2

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


    Find genes that share disorders with MTHFD2           About GenesLikeMe

    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)
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    PubMed articles for MTHFD2 gene, integrated from 10 sources (see all 45):
    (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. (Nucleic Acids Res. 1989)
    2. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (Carcinogenesis 2010)
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    4. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (Eur. Urol. 2010)
    5. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 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. (Birth Defects Res. Part A Clin. Mol. Teratol. 2009)
    7. Polymorphisms in DNA repair and one-carbon metabolism genes and overall survival in diffuse large B-cell lymphoma and follicular lymphoma. (PubMed id 18830263)1, 4 Wang S.S....Cerhan J.R. (Leukemia 2009)
    8. 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects. (PubMed id 19493349)1, 4 Shaw G.M....Finnell R.H. (BMC Med. Genet. 2009)
    9. PTEN identified as important risk factor of chronic obstructive pulmonary disease. (PubMed id 19625176)1, 4 Hosgood H.D....Lan Q. (Respir Med 2009)
    10. 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. (Genet. Epidemiol. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 10797 HGNC: 7434 AceView: MTHFD2 Ensembl:ENSG00000065911 euGenes: HUgn10797
    ECgene: MTHFD2 Kegg: 10797 H-InvDB: MTHFD2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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