Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



MTHFSD Gene

protein-coding   GIFtS: 49
GCID: GC16M086563

Methenyltetrahydrofolate Synthetase Domain Containing

  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

TryGeneCards Plus

Aliases
Methenyltetrahydrofolate Synthetase Domain Containing1 2
Methenyltetrahydrofolate Synthase Domain-Containing Protein2
Methenyltetrahydrofolate Synthetase Domain-Containing Protein2

External Ids:    HGNC: 257781   Entrez Gene: 647792   Ensembl: ENSG000001032487   UniProtKB: Q2M2963   

Export aliases for MTHFSD gene to outside databases

Previous GC identifers: GC16M085123 GC16M072303


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

TryGeneCards Plus

GeneCards Summary for MTHFSD Gene:
MTHFSD (methenyltetrahydrofolate synthetase domain containing) is a protein-coding gene. Diseases associated with MTHFSD include vacterl association, and esophageal atresia. GO annotations related to this gene include RNA binding and 5-formyltetrahydrofolate cyclo-ligase activity.


(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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000016.10  NT_010498.16  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MTHFSD gene promoter:
         PPAR-gamma1   MyoD   PPAR-gamma2   Pax-4a   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMTHFSD promoter sequence
   Search Chromatin IP Primers for MTHFSD

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MTHFSD


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

Entrez Gene cytogenetic band: 16q24.1   Ensembl cytogenetic band:  16q24.1   HGNC cytogenetic band: 16q24.1

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M086563:  view genomic region     (about GC identifiers)

Start:
86,563,782 bp from pter      End:
86,588,841 bp from pter
Size:
25,060 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for MTHFSD

(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: MTHSD_HUMAN, Q2M296 (See protein sequence)
Recommended Name: Methenyltetrahydrofolate synthase domain-containing protein  
Size: 383 amino acids; 42173 Da
Sequence caution: Sequence=BAB14383.1; Type=Frameshift; Positions=356;
1 PDB 3D structure from and Proteopedia for MTHFSD:
2E5J (3D)    
Secondary accessions: A8MQ77 B7ZLC0 B7ZLC2 D3DUM9 E9PAM1 Q9H878 Q9H954
Alternative splicing: 4 isoforms:  Q2M296-1   Q2M296-2   Q2M296-3   Q2M296-4   

Explore the universe of human proteins at neXtProt for MTHFSD: NX_Q2M296

Explore proteomics data for MTHFSD at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (5 alternative transcripts): 
    NP_001152849.1  NP_001152850.1  NP_001152851.1  NP_001152852.1  NP_073601.2  

    ENSEMBL proteins: 
     ENSP00000354152   ENSP00000438761   ENSP00000444003   ENSP00000370612   ENSP00000456910  
     ENSP00000454593   ENSP00000456652   ENSP00000455940   ENSP00000454807   ENSP00000455262  
     ENSP00000456628   ENSP00000454429   ENSP00000458104   ENSP00000455208   ENSP00000457794  
     ENSP00000326777  

    MTHFSD Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for MTHFSD
    OriGene Custom MassSpec
    OriGene Custom Protein Services for MTHFSD
    GenScript Custom Purified and Recombinant Proteins Services for MTHFSD
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MTHFSD

    MTHFSD Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for MTHFSD
    Novus Biologicals MTHFSD Antibodies
    Search for Antibodies for MTHFSD at Abcam
    Cloud-Clone Corp. Antibodies for MTHFSD
    Search ThermoFisher Antibodies for MTHFSD
    LSBio Antibodies in human, mouse, rat for MTHFSD

    MTHFSD Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MTHFSD
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MTHFSD
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MTHFSD
    Cloud-Clone Corp. CLIAs for MTHFSD


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

    TryGeneCards Plus
    HGNC Gene Families:
    RBM: RNA binding motif (RRM) containing

    4 InterPro protein domains:
     IPR002698 FTHF_cligase
     IPR012677 Nucleotide-bd_a/b_plait
     IPR024185 FTHF_cligase-like
     IPR000504 RRM_dom

    Graphical View of Domain Structure for InterPro Entry Q2M296

    ProtoNet protein and cluster: Q2M296

    1 Blocks protein domain: IPB002698 5-formyltetrahydrofolate cyclo-ligase

    UniProtKB/Swiss-Prot: MTHSD_HUMAN, Q2M296
    Similarity: Contains 1 RRM (RNA recognition motif) domain


    MTHFSD 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding ----
    GO:0005524ATP binding IEA--
    GO:00302725-formyltetrahydrofolate cyclo-ligase activity IEA--
         
    MTHFSD for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for MTHFSD:
     Increased S DNA content  Increased gamma-H2AX phosphory  Increased number of mitotic ce 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MTHFSD
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MTHFSD

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MTHFSD
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MTHFSD

    miRNA
    Products:
        
    miRTarBase miRNAs that target MTHFSD:
    hsa-mir-124-3p (MIRT022160), hsa-mir-92a-3p (MIRT049525)

    Block miRNA regulation of human, mouse, rat MTHFSD using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate MTHFSD:
    hsa-miR-149 hsa-miR-3182 hsa-miR-3157-5p hsa-miR-664*
    SwitchGear 3'UTR luciferase reporter plasmidMTHFSD 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MTHFSD
    Predesigned siRNA for gene silencing in human, mouse, rat MTHFSD

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MTHFSD

    Clone
    Products:
         
    OriGene clones in human, mouse for MTHFSD (see all 31)
    OriGene ORF clones in mouse, rat for MTHFSD
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): MTHFSD (NM_022764)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MTHFSD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTHFSD

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for MTHFSD
    Browse ESI BIO Cell Lines and PureStem Progenitors for MTHFSD 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTHFSD


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    mitochondrion1

    (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).
    About This Section

    TryGeneCards Plus



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

        Search GeneGlobe Interaction Network for MTHFSD

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for MTHFSD (Q2M2963 ENSP000003267774) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP53P046373, ENSP000002693054I2D: score=1 STRING: ENSP00000269305
    TP63Q9H3D43, ENSP000002647314I2D: score=1 STRING: ENSP00000264731
    TP73O153503, ENSP000003675454I2D: score=1 STRING: ENSP00000367545
    ACTR1AP611633I2D: score=4 
    SIN3AQ96ST33I2D: score=2 
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009396folic acid-containing compound biosynthetic process IEA--

    MTHFSD for ontologies           About GeneDecksing



    (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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MTHFSD (MTHSD)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for MTHFSD gene (5 alternative transcripts): 
    NM_001159377.1  NM_001159378.1  NM_001159379.1  NM_001159380.1  NM_022764.2  

    Unigene Cluster for MTHFSD:

    Methenyltetrahydrofolate synthetase domain containing
    Hs.343627  [show with all ESTs]
    Unigene Representative Sequence: NR_027489
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000360900 ENST00000546093 ENST00000543303 ENST00000381214 ENST00000566050
    ENST00000567539 ENST00000562096 ENST00000562940(uc002fjp.2) ENST00000566469
    ENST00000569000 ENST00000568798 ENST00000562994 ENST00000561522 ENST00000564364
    ENST00000568037 ENST00000561989 ENST00000565482 ENST00000561848
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MTHFSD using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate MTHFSD:
    hsa-miR-149 hsa-miR-3182 hsa-miR-3157-5p hsa-miR-664*
    SwitchGear 3'UTR luciferase reporter plasmidMTHFSD 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MTHFSD
    Predesigned siRNA for gene silencing in human, mouse, rat MTHFSD
    Clone
    Products:
         
    OriGene clones in human, mouse for MTHFSD (see all 31)
    OriGene ORF clones in mouse, rat for MTHFSD
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): MTHFSD (NM_022764)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MTHFSD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTHFSD
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for MTHFSD
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MTHFSD
      QuantiTect SYBR Green Assays in human, mouse, rat MTHFSD
      QuantiFast Probe-based Assays in human, mouse, rat MTHFSD

    Additional mRNA sequence: 

    AK023060.1 AK023955.1 AK096836.1 AK297726.1 BC013911.2 BC112057.1 BC112059.1 BC143702.1 
    BC143703.1 BC143704.1 BC143705.1 BC143707.1 NR_027489.1 NR_027490.1 

    11 DOTS entries:

    DT.100748348  DT.211454  DT.100830089  DT.70104509  DT.120659154  DT.101979438  DT.438482  DT.120659155 
    DT.95247273  DT.95375053  DT.91760438 

    Selected AceView cDNA sequences (see all 126):

    AA993008 BX089124 CR611840 BX115194 BC013911 AI953239 BQ889086 AK125015 
    BX117837 AU142038 AI472911 AA302331 CO246231 AW207197 AA809883 AK096836 
    AI263847 BX956867 BQ013210 AA831095 BM835897 BI668644 AI122660 AA759331 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MTHFSD (see all 9)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c · 13d
    SP1:                    -           -     -                 -           -                       -     -                           
    SP2:                    -     -           -           -     -           -                       -     -                           
    SP3:                    -     -           -           -     -           -                       -                                 
    SP4:                    -           -     -           -     -           -                       -     -                           
    SP5:                    -     -           -           -     -           -                                                         


    ECgene alternative splicing isoforms for MTHFSD

    (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)
    About This Section

    TryGeneCards Plus

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

    MTHFSD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MTHFSD Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.343627
        Custom PCR Arrays for MTHFSD
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for MTHFSD
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MTHFSD
    QuantiTect SYBR Green Assays in human, mouse, rat MTHFSD
    QuantiFast Probe-based Assays in human, mouse, rat MTHFSD
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTHFSD

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MTHFSD gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mthfsd1 , 5 methenyltetrahydrofolate synthetase domain containing1, 5 74.66(n)1
    72.78(a)1
      8 (70.31 cM)5
    2348141  NM_001166482.11  NP_001159954.11 
     1210950125 
    chicken
    (Gallus gallus)
    Aves MTHFSD1 methenyltetrahydrofolate synthetase domain containing 61.65(n)
    61.74(a)
      415823  XM_004944276.1  XP_004944333.1 
    lizard
    (Anolis carolinensis)
    Reptilia MTHFSD6
    methenyltetrahydrofolate synthetase domain contain...
    61(a)
    1 ↔ 1
    GL344607.1(10903-25384)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.78262 Xenopus laevis transcribed sequence with weak similarity more 74.52(n)    BU912647.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc43c122 Transcribed sequence with weak similarity to protein more 73.47(n)    57049870 
    fruit fly
    (Drosophila melanogaster)
    Insecta lost1 lost 44.28(n)
    32.84(a)
      40559  NM_141209.2  NP_649466.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G767301 AT1G76730 52.07(n)
    50.2(a)
      844007  NM_106323.3  NP_565139.1 
    rice
    (Oryza sativa)
    Liliopsida Os12g01680001 Os12g0168000 49.67(n)
    47.04(a)
      4351605  NM_001072783.1  NP_001066251.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for MTHFSD gene
    1 SIMAP similar gene for MTHFSD using alignment to 13 protein entries:     MTHSD_HUMAN (see all proteins):
    FLJ12998

    MTHFSD for paralogs           About GeneDecksing



    (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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for MTHFSD (see all 679)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1893988241,2
    --86563294(+) AGTGAC/TTCATG 7 -- int1 ds50010--------
    rs1818364821,2
    --86563311(+) ATCCCA/GGCACT 7 -- int1 ds50010--------
    rs1508486911,2
    --86563312(+) TCCCGA/GCACTT 7 -- int1 ds50010--------
    rs1864890281,2
    --86563319(+) ACTTTC/TGGAGG 7 -- int1 ds50010--------
    rs1393844781,2
    --86563390(+) ACCCTA/GTCTCT 7 -- int1 ds50010--------
    rs1142842611,2
    F--86563414(+) AGCTGG/AGCATG 7 -- int1 ds50011Minor allele frequency- A:0.09WA 118
    rs560885891,2
    C--86563431(+) CACACC/GTGTCG 7 -- int1 ds50014Minor allele frequency- G:0.31WA NA EA 360
    rs560503811,2
    C--86563447(+) GCTACG/ATGGAG 7 -- int1 ds50014Minor allele frequency- A:0.32WA NA EA 360
    rs1500307351,2
    --86563505(+) AGCTGG/TGATCA 7 -- int1 ds50010--------
    rs80524581,2
    C,F--86563576(+) AGATAT/CAAAAA 7 -- int1 ds50018Minor allele frequency- C:0.48NA WA CSA EA 368

    HapMap Linkage Disequilibrium report for MTHFSD (86563782 - 86588841 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for MTHFSD:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv525024CNV Loss19592680
    nsv907132CNV Loss21882294
    nsv907137CNV Loss21882294
    dgv2947n71CNV Loss21882294
    dgv498n67CNV Gain20364138
    esv4262CNV Complex18987735

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

    (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

    TryGeneCards Plus
    3 diseases for MTHFSD:    About MalaCards
    vacterl association    esophageal atresia    esophagitis

    2 diseases from the University of Copenhagen DISEASES database for MTHFSD:
    VACTERL association     Esophageal atresia

    MTHFSD for disorders           About GeneDecksing

    Genetic Association Database (GAD): MTHFSD
    Human Genome Epidemiology (HuGE) Navigator: MTHFSD (3 documents)

    Export disorders for MTHFSD 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

    TryGeneCards Plus

    PubMed articles for MTHFSD gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with MTHFSD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    4. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    6. Genome-wide association for smoking cessation success: participants in the Patch in Practice trial of nicotine replacement. (PubMed id 20235792)4 Uhl G.R....MunafA^ M.R. (Pharmacogenomics 2010)
    7. A genome-scale protein interaction profile of Drosophila p53 uncovers additional nodes of the human p53 network. (PubMed id 20308539)1 Lunardi A....Collavin L. (Proc. Natl. Acad. Sci. U.S.A. 2010)
    8. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 2010)
    9. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (Am. J. Hum. Genet. 2009)
    10. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)2 Martin J.... Pennacchio L.A. (Nature 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 64779 HGNC: 25778 AceView: FLJ12998 Ensembl:ENSG00000103248 euGenes: HUgn64779
    ECgene: MTHFSD H-InvDB: MTHFSD

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for MTHFSD Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for MTHFSD gene:
    Search GeneIP for patents involving MTHFSD

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for MTHFSD  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for MTHFSD  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for MTHFSD  
     OriGene qSTAR qPCR primer pairs in human, mouse for MTHFSD   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for MTHFSD   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for MTHFSD   OriGene Custom Protein Services for MTHFSD  

     
     
     Block miRNA regulation of human, mouse, rat MTHFSD using miScript Target Protectors SeqTarget long-range PCR primers for resequencing MTHFSD
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MTHFSD Predesigned siRNA for gene silencing in human, mouse, rat MTHFSD
     QuantiFast Probe-based Assays in human, mouse, rat MTHFSD QuantiTect SYBR Green Assays in human, mouse, rat MTHFSD
     Custom PCR Arrays for MTHFSD Search Chromatin IP Primers for MTHFSD
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MTHFSD  Search GeneGlobe Interaction Network for MTHFSD
     Regulatory tfbs in MTHFSD promoter
     GenScript Custom Purified and Recombinant Proteins Services for MTHFSD GenScript cDNA clones with any tag delivered in your preferred vector for MTHFSD
     GenScript Custom Assay Services for MTHFSD GenScript Custom overexpressing Cell Line Services for MTHFSD
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for MTHFSD (MTHSD)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     MTHFSD antibodies
     Search for Antibodies for MTHFSD at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for MTHFSD
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for MTHFSD
     Antibodies for MTHFSD
     ELISAs for MTHFSD
     CLIAs for MTHFSD



     Browse ESI BIO Cell Lines and PureStem Progenitors for MTHFSD
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTHFSD
     SwitchGear 3'UTR luciferase reporter plasmids for MTHFSD
     SwitchGear Promoter luciferase reporter plasmids for MTHFSD
     Search ThermoFisher Antibodies for MTHFSD
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTHFSD
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MTHFSD
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MTHFSD
     LSBio Antibodies in human, mouse, rat for MTHFSD
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      MTHFSD gene at Home site.
    Version: 3.12.136 22 July 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4