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MTR Gene

protein-coding   GIFtS: 72
GCID: GC01P236958

5-Methyltetrahydrofolate-Homocysteine Methyltransferase

  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)
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Aliases
5-Methyltetrahydrofolate-Homocysteine Methyltransferase1 2     5-Methyltetrahydrofolate-Homocysteine Methyltransferase 12
Vitamin-B12 Dependent Methionine Synthase2 3     cblG2
MS2 3     Cobalamin-Dependent Methionine Synthase2
EC 2.1.1.133 8     Methionine Synthase2
HMAG2 5     5-Methyltetrahydrofolate--Homocysteine Methyltransferase3

External Ids:    HGNC: 74681   Entrez Gene: 45482   Ensembl: ENSG000001169847   OMIM: 1565705   UniProtKB: Q997073   

Export aliases for MTR gene to outside databases

Previous GC identifers: GC01P235091 GC01P232412 GC01P233255 GC01P233999 GC01P233284 GC01P235025 GC01P207414


(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 MTR Gene:
MTR encodes the enzyme 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as
cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR
have been identified as the underlying cause of methylcobalamin deficiency complementation group G. (provided by
RefSeq, Jul 2008)

GeneCards Summary for MTR Gene:
MTR (5-methyltetrahydrofolate-homocysteine methyltransferase) is a protein-coding gene. Diseases associated with MTR include vitamin b12 deficiency, and cblg. GO annotations related to this gene include cobalamin binding and methionine synthase activity.

UniProtKB/Swiss-Prot: METH_HUMAN, Q99707
Function: Catalyzes the transfer of a methyl group from methyl-cobalamin to homocysteine, yielding enzyme-bound
cob(I)alamin and methionine. Subsequently, remethylates the cofactor using methyltetrahydrofolate (By similarity)

Gene Wiki entry for MTR (Methionine synthase) 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:
NC_000001.11  NT_167186.2  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MTR gene promoter:
         Spz1   Sox5   Sp1   GATA-3   NCX/Ncx   CUTL1   Tal-1beta   LCR-F1   GATA-2   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMTR promoter sequence
   Search Chromatin IP Primers for MTR

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


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

Entrez Gene cytogenetic band: 1q43   Ensembl cytogenetic band:  1q43   HGNC cytogenetic band: 1q43

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P236958:  view genomic region     (about GC identifiers)

Start:
236,958,581 bp from pter      End:
237,067,281 bp from pter
Size:
108,701 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, 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: METH_HUMAN, Q99707 (See protein sequence)
Recommended Name: Methionine synthase  
Size: 1265 amino acids; 140527 Da
Cofactor: Methylcobalamin (MeCBL)
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Miscellaneous: L-homocysteine is bound via the zinc atom (By similarity)
2 PDB 3D structures from and Proteopedia for MTR:
2O2K (3D)        4CCZ (3D)    
Secondary accessions: A1L4N8 A9Z1W4 B9EGF7 Q99713 Q99723

Explore the universe of human proteins at neXtProt for MTR: NX_Q99707

Explore proteomics data for MTR at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys16, Lys28, Lys127, Lys151, Lys216, Lys231, Lys685, Lys727, Lys735, Lys753,
                                 Lys781, Lys789, Lys814, Lys817, Lys823, Lys865, Lys1000, Lys1127, Lys1169
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for MTR (Q99707) (see all 27)
     PNAGLPN  VAKEMER  VVMAFDE  DYLGLFA 


    See MTR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000245.2  
    ENSEMBL proteins: 
     ENSP00000355536   ENSP00000355535   ENSP00000402255   ENSP00000441845  
    Reactome Protein details: Q99707

    MTR Human Recombinant Protein Products:

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

    MTR Antibody Products:

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    ThermoFisher Antibodies for MTR
    LSBio Antibodies in human, mouse, rat for MTR

    MTR Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for MTR
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MTR
    Cloud-Clone Corp. CLIAs for MTR


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR004223 VitB12-dep_Met_synth_activ_dom
     IPR003759 Cbl-bd_cap
     IPR011822 MetH
     IPR003726 S_MeTrfase
     IPR011005 Dihydropteroate_synth-like

    Graphical View of Domain Structure for InterPro Entry Q99707

    ProtoNet protein and cluster: Q99707

    3 Blocks protein domains:
    IPB003726 Homocysteine S-methyltransferase
    IPB004223 Vitamin B12 dependent methionine synthase activation domain
    IPB006158 Coenzyme B12-binding


    UniProtKB/Swiss-Prot: METH_HUMAN, Q99707
    Domain: Modular enzyme with four functionally distinct domains. The isolated Hcy-binding domain catalyzes methyl
    transfer from free methylcobalamin to homocysteine. The Hcy-binding domain in association with the pterin-binding
    domain catalyzes the methylation of cob(I)alamin by methyltetrahydrofolate and the methylation of homocysteine.
    The B12-binding domain binds the cofactor. The AdoMet activation domain binds S-adenosyl-L-methionine. Under
    aerobic conditions cob(I)alamin can be converted to inactive cob(II)alamin. Reductive methylation by
    S-adenosyl-L-methionine and flavodoxin regenerates methylcobalamin (By similarity)
    Similarity: Belongs to the vitamin-B12 dependent methionine synthase family
    Similarity: Contains 1 AdoMet activation domain
    Similarity: Contains 1 B12-binding domain
    Similarity: Contains 1 B12-binding N-terminal domain
    Similarity: Contains 1 Hcy-binding domain
    Similarity: Contains 1 pterin-binding domain


    MTR 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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: METH_HUMAN, Q99707
    Function: Catalyzes the transfer of a methyl group from methyl-cobalamin to homocysteine, yielding enzyme-bound
    cob(I)alamin and methionine. Subsequently, remethylates the cofactor using methyltetrahydrofolate (By similarity)
    Catalytic activity: 5-methyltetrahydrofolate + L-homocysteine = tetrahydrofolate + L-methionine

         Genatlas biochemistry entry for MTR:
    5-methyl tetrahydrofolate (THF),homocysteine methyltransferase,methionine synthase,140kDa,methylcobolamin
    dependent,sulfur aminoacid metabolism,no evidence of association with neural tube defects (NTD) in Netherlands
    and U.K.

         Enzyme Number (IUBMB): EC 2.1.1.131 2

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008270zinc ion binding IEA--
    GO:0008705methionine synthase activity IEA--
    GO:0008898homocysteine S-methyltransferase activity IEA--
    GO:0031419cobalamin binding IEA--
    GO:0046872metal ion binding ----
         
    MTR for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MTR:
     Synthetic lethal with Ras 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mtr):
     homeostasis/metabolism  mortality/aging 

    MTR for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mtrtm1Lcb for MTR

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

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target MTR:
    hsa-mir-193b-3p (MIRT041354), hsa-mir-484 (MIRT042208), hsa-mir-10a-5p (MIRT047589), hsa-mir-106b-5p (MIRT044357)

    Block miRNA regulation of human, mouse, rat MTR using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MTR (see all 37):
    hsa-miR-579 hsa-miR-26a-2* hsa-miR-429 hsa-miR-4272 hsa-miR-371-5p hsa-miR-548m hsa-miR-9 hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidMTR 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MTR
    Predesigned siRNA for gene silencing in human, mouse, rat MTR

    Gene Editing
    Products:
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    Clone
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    OriGene ORF clones in mouse, rat for MTR
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    GenScript: all cDNA clones in your preferred vector: MTR (NM_000254)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MTR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTR

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for MTR 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTR


    (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
    METH_HUMAN, Q99707: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    mitochondrion2
    nucleus2
    chloroplast1
    extracellular1
    lysosome1
    peroxisome1
    plasma membrane1
    vacuole1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--

    MTR for ontologies           About GeneDecksing


    (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 MTR About   (see all 12)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1One carbon pool by folate
    One carbon pool by folate0.53
    Methotrexate Pathway (Cancer Cell), Pharmacodynamics0.35
    One Carbon Metabolism0.53
    Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics0.34
    Trans-sulfuration and one carbon metabolism0.43
    Antimetabolite Pathway - Folate Cycle, Pharmacodynamics0.00
    Methionine metabolism0.35
    methionine salvage0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Sulfur amino acid metabolism
    Sulfur amino acid metabolism0.35
    Cysteine and methionine metabolism0.35
    4Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Metabolism of vitamins and cofactors1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defects in cobalamin (B12) metabolism1.00
    5Biological oxidations
    Biological oxidations0.56
    Methylation0.00
    Phase II conjugation0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for MTR
        Methionine metabolism

    Selected BioSystems Pathways for MTR (see all 6)
        One Carbon Metabolism
    Trans-sulfuration pathway
    folate transformations
    methionine salvage
    Selenium Pathway

    5 Reactome Pathways for MTR
        Defective MTR causes methylmalonic aciduria and homocystinuria type cblG
    Sulfur amino acid metabolism
    Cobalamin (Cbl, vitamin B12) transport and metabolism
    Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE
    Methylation

    3 PharmGKB Pathways for MTR
        Antimetabolite Pathway - Folate Cycle, Pharmacodynamics
    Methotrexate Pathway (Cancer Cell), Pharmacodynamics
    Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics

    5 Kegg Pathways  (Kegg details for MTR):
        Cysteine and methionine metabolism
    Selenocompound metabolism
    One carbon pool by folate
    Metabolic pathways
    Biosynthesis of amino acids

    UniProtKB/Swiss-Prot: METH_HUMAN, Q99707
    Pathway: Amino-acid biosynthesis; L-methionine biosynthesis via de novo pathway; L-methionine from L-homocysteine
    (MetH route): step 1/1


    MTR for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including MTR: 

              Amino Acid Metabolism I in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MTR

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

    Selected Interacting proteins for MTR (Q997071, 3 ENSP000003555364) via UniProtKB, MINT, STRING, and/or I2D (see all 35)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDKN2AP427713, ENSP000003551534I2D: score=1 I2D: score=1 STRING: ENSP00000355153
    TSC22D1Q157141, 3, ENSP000003974354EBI-1045782,EBI-712609 I2D: score=2 STRING: ENSP00000397435
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    MMADHCQ9H3L03, ENSP000003019204I2D: score=5 STRING: ENSP00000301920
    DYNLL1P631673I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000096sulfur amino acid metabolic process TAS--
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0006805xenobiotic metabolic process TAS--
    GO:0007399nervous system development TAS8968737

    MTR 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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MTR (METH)

    Selected HMDB Compounds for MTR (see all 13)    About this table
    CompoundSynonyms CAS #PubMed Ids
    5-Methyltetrahydrofolic acid5-Methyl tetrahydrofolate (see all 17)134-35-0--
    Cob(I)alaminVitamin B12s (see all 5)18534-66-2--
    Cob(II)alaminVitamin B12r (see all 5)14463-33-3--
    Cobalamin5,6-dimethyl-1-a-D-ribofuranosylbenzimidazole (see all 15)13408-78-1--
    CobaltCo (see all 6)7440-48-4--
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    Homocysteine(+-)-homocysteine (see all 22)454-29-5--
    L-Methionine(2S)-2-amino-4-(methylsulfanyl)butanoic acid (see all 54)63-68-3--
    MethylcobalaminAlgobaz (see all 13)13422-55-4--
    Pterin2-Amino-4(1H)-pteridinone (see all 14)2236-60-4--

    4 DrugBank Compounds for MTR    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    HydroxocobalaminHydroxomin (see all 2)13422-51-0targetcofactor7599160 1744096 18565 3812589 9587031
    L-Methionine(S)-2-amino-4-(methylthio)butanoic acid (see all 6)63-68-3targetproduct of17222188 16618098 17615995 16788729 17052662
    Tetrahydrofolic acid5,6,7,8-tetrahydrofolate (see all 3)135-16-0targetcofactor11169015 9398303 9730838 11237340 10978155
    CyanocobalaminCyanocob(III)alamin (see all 3)68-19-9targetcofactor18709879 19904199

    Selected Novoseek inferred chemical compound relationships for MTR gene (see all 60)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    methionine 95.4 1056 1627355 (8), 1602376 (7), 11371572 (7), 11158293 (6) (see all 99)
    methylcobalamin 93.6 64 8652590 (3), 1748723 (3), 8487649 (3), 1744096 (2) (see all 30)
    5-methyltetrahydrofolate 92.7 50 8005024 (2), 11730351 (2), 8652590 (1), 11237340 (1) (see all 37)
    homocysteine 92.7 260 12482550 (7), 1602376 (5), 8099783 (3), 18281142 (3) (see all 99)
    cobalamin 92.6 97 10377254 (3), 15319544 (3), 11371572 (3), 17477549 (3) (see all 57)
    folate 91.5 205 11257268 (6), 15117811 (3), 18844488 (3), 11371572 (3) (see all 99)
    cystathionine 90.5 65 19094252 (2), 10704624 (2), 17937607 (2), 17726616 (2) (see all 44)
    vitamin b12 89.5 76 10780318 (3), 9453374 (2), 19838916 (2), 19339913 (2) (see all 59)
    cob(ii)alamin 88.8 12 19243433 (1), 9730838 (1), 14717604 (1), 9501215 (1) (see all 10)
    l-methylmalonyl-coa 86.8 7 7901104 (2), 8099783 (1), 11935176 (1), 8507652 (1) (see all 6)

    2 PharmGKB related drug/compound annotations for MTR gene    About this table
    Drug/compound PharmGKB Annotation
    cisplatinCA  
    methotrexateCA  



    MTR for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MTR gene: 
    NM_000254.2  

    Unigene Cluster for MTR:

    5-methyltetrahydrofolate-homocysteine methyltransferase
    Hs.498187  [show with all ESTs]
    Unigene Representative Sequence: NM_000254
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000366577(uc001hyi.4 uc010pxw.2 uc010pxx.2 uc010pxy.2)
    ENST00000463959(uc009xgj.1) ENST00000366576 ENST00000470570 ENST00000418145(uc010pxv.1)
    ENST00000535889
    miRNA
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    Block miRNA regulation of human, mouse, rat MTR using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MTR (see all 37):
    hsa-miR-579 hsa-miR-26a-2* hsa-miR-429 hsa-miR-4272 hsa-miR-371-5p hsa-miR-548m hsa-miR-9 hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidMTR 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for MTR
    Predesigned siRNA for gene silencing in human, mouse, rat MTR
    Clone
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    OriGene ORF clones in mouse, rat for MTR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MTR (NM_000254)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MTR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTR
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for MTR
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MTR
      QuantiTect SYBR Green Assays in human, mouse, rat MTR
      QuantiFast Probe-based Assays in human, mouse, rat MTR

    Additional mRNA sequence: 

    AK090487.1 AK125206.1 AK127317.1 AK294270.1 AK299904.1 AK307390.1 AY429553.1 BC015894.1 
    BC067276.1 BC130616.1 BC136440.1 BC144095.1 BC144097.1 BC144098.1 BX641132.1 U71285.1 
    U73338.1 U75743.1 

    11 DOTS entries:

    DT.212613  DT.91656110  DT.95088758  DT.100682539  DT.91747359  DT.102831022  DT.102831021  DT.100783258 
    DT.91849389  DT.95258735  DT.91898644 

    Selected AceView cDNA sequences (see all 174):

    BI793260 AA975197 AV725573 AI425009 BM472454 AL041796 BU189680 CD675851 
    BE463498 AA857538 CD512766 AL598311 BI962573 AA356439 BX476116 BE047753 
    U73338 CF887086 AW016520 BM126477 BQ012424 H51857 BM854336 U75743 

    GeneLoc Exon Structure


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


    MTR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Brain (Nervous System)
             Cerebral Cortex
    MTR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MTR Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.498187

    UniProtKB/Swiss-Prot: METH_HUMAN, Q99707
    Tissue specificity: Widely expressed. Expressed at the highest levels in pancreas, heart, brain, skeletal muscle
    and placenta. Expressed at lower levels in lung, liver and kidney

        Pathway & Disease-focused RT2 Profiler PCR Array including MTR: 
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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 animals.

    Orthologs for MTR gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mtr1 , 5 5-methyltetrahydrofolate-homocysteine methyltransferase1, 5 88.55(n)1
    92.09(a)1
      13 (4.52 cM)5
    2385051  NM_001081128.31  NP_001074597.11 
     121865425 
    chicken
    (Gallus gallus)
    Aves MTR1 5-methyltetrahydrofolate-homocysteine methyltransferase 78.69(n)
    84.1(a)
      422069  NM_001031104.1  NP_001026275.1 
    lizard
    (Anolis carolinensis)
    Reptilia MTR6
    5-methyltetrahydrofolate-homocysteine methyltransf...
    81(a)
    1 ↔ 1
    1(218725252-218824780)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004888271 methionine synthase-like 74.83(n)
    81.3(a)
      100488827  XM_002933868.2  XP_002933914.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mtr2 5-methyltetrahydrofolate-homocysteine methyltransferase 75.04(n)   378847  AF506733.1 
    worm
    (Caenorhabditis elegans)
    Secernentea R03D7.13
    metr-11
    5-methyltetrahydrofolate-homocysteine
    methyltransferase3
    metr-11
    63(a)3
    61.95(n)1
    64.36(a)1
      II(10926473-10930792)3
    1746811  NM_063952.41  NP_496353.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MTR gene
    1 SIMAP similar gene for MTR using alignment to 5 protein entries:     METH_HUMAN (see all proteins):
    DKFZp686A22123

    MTR 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)
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    Selected SNPs for MTR (see all 2422)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289330971,2,4
    Homocystinuria-megaloblastic anemia, cblG complementation type (HMAG)4--see VAR_0043302 mis40--------
    VAR_0043314
    Homocystinuria-megaloblastic anemia, cblG complementation type (HMAG)4--see VAR_0043312 P L mis40--------
    rs1219135781,2
    Cpathogenic1243859461(+) CCGCCC/TGGCTC 2 P L mis11Minor allele frequency- T:0.00NA 3934
    rs1462618651,2
    C--207416206(+) AATAA-/ATAAG 
            
    ATGTA
    1 -- int10--------
    rs720401201,2
    C--207416207(+) ATAAA-/ATAAG 
            
    TGTAA
    1 -- int10--------
    rs1430741601,2
    C--207417357(+) GACTT-/AAGTCT 1 -- int10--------
    rs2008756941,2
    C--207423417(+) TTCTCA/TCAGTT 1 -- int10--------
    rs57819241,2
    C--207434991(+) TACAT-/GTC   
      T
    /TCTG
    TCTTT
    1 -- int11CSA 2
    rs30541571,2
    C--207434994(+) ATTCT-/G/GTCT
            
    TTTAT
    1 -- int11CSA 2
    rs57819251,2
    C--207436548(+) TTTTT-/TCTTCT 1 -- int1 trp30--------

    HapMap Linkage Disequilibrium report for MTR (236958581 - 237067281 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MTR:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv5010CNV Insertion18451855
    nsv5021CNV Loss18451855
    nsv428335CNV Gain18775914

    Human Gene Mutation Database (HGMD): MTR
    Locus Specific Mutation Databases (LSDB): MTR

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 156570   
    OMIM disorders: 250940  601634  
    UniProtKB/Swiss-Prot: METH_HUMAN, Q99707
  • Homocystinuria-megaloblastic anemia, cblG complementation type (HMAG) [MIM:250940]: An autosomal
    recessive inborn error of metabolism resulting from defects in the cobalamin-dependent pathway that converts
    homocysteine to methionine. It causes delayed psychomotor development, megaloblastic anemia, homocystinuria, and
    hypomethioninemia. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Folate-sensitive neural tube defects (FS-NTD) [MIM:601634]: The most common NTDs are open spina bifida
    (myelomeningocele) and anencephaly. Note=Disease susceptibility is associated with variations affecting the gene
    represented in this entry

  • Selected diseases for MTR (see all 126):    
    About MalaCards
    vitamin b12 deficiency    cblg    homocystinuria-megaloblastic anemia, cblg complementation type    cble
    methylmalonic acidemia with homocystinuria    neural tube defects, folate-sensitive    homocysteinemia    cbld
    cblf    homocysteine plasma level    hyperhomocysteinemia    methylmalonic acidemia
    disorders of intracellular cobalamin metabolism    pediatric osteosarcoma    homocystinuria    adult acute lymphocytic leukemia
    myelomeningocele    neural tube defects    anencephaly    macrocytic anemia

    9 diseases from the University of Copenhagen DISEASES database for MTR:
    Hyperhomocysteinemia     Vitamin B12 deficiency     Homocystinuria     Megaloblastic anemia
    Methylmalonic acidemia     Multiple sclerosis     Spina bifida     Down syndrome
    Cancer

    MTR for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for MTR gene (see all 52)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperhomocysteinemia 82.9 10 11460881 (2), 8968737 (1), 12520968 (1), 12476935 (1) (see all 8)
    homocystinuria 82.3 9 9286442 (2), 15714522 (1), 9266389 (1), 9427140 (1) (see all 7)
    anemia megaloblastic 82 7 9453374 (2), 2407589 (1), 9427140 (1), 9501215 (1) (see all 6)
    methylenetetrahydrofolate reductase deficiency 81.4 2 9587031 (1), 12840086 (1)
    subacute combined degeneration 80.7 2 2407589 (1), 1678030 (1)
    methylmalonic aciduria 80.4 4 9266389 (1), 11237984 (1), 8979304 (1)
    neural tube defects 78.2 11 12812837 (1), 8968737 (1), 10323741 (1), 12520968 (1) (see all 10)
    folate deficiency 76 6 7901104 (1), 18815869 (1), 15496403 (1)
    homocysteinemia 72.8 2 11158293 (1), 12923861 (1)
    vitamin b12 deficiency 72.4 3 16054985 (1), 9453374 (1), 16464760 (1)

    Genatlas disease: MTR
    methylmalonic acidemia and homocystinuria,megaloblastic anemia with/without the cblG variant,characterized by
    neonatal seizures,severe developmental delay and hyperhomocysteinemia,cblG complementation groups no evidence of
    association with neural tube defects (NTD) in Netherlands and U.K.

    GeneTests: MTR
    GeneReviews: MTR
    Genetic Association Database (GAD): MTR
    Human Genome Epidemiology (HuGE) Navigator: MTR (286 documents)

    Export disorders for MTR 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 MTR gene, integrated from 10 sources (see all 626):
    (articles sorted by number of sources associating them with MTR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, mapping and RNA analysis of the human methionine synthase gene. (PubMed id 8968735)1, 2, 3, 9 Li Y.N.... Kruger W.D. (Hum. Mol. Genet. 1996)
    2. Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association. (PubMed id 15979034)1, 2, 4, 9 O'Leary V.B.... Brody L.C. (Mol. Genet. Metab. 2005)
    3. Effects of polymorphisms of methionine synthase and methionine synthase reductase on total plasma homocysteine in the NHLBI Family Heart Study. (PubMed id 12482550)1, 4, 9 Jacques P.F....Rozen R. (Atherosclerosis 2003)
    4. Women with polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase (MS) are less likely to have cervical intraepithelial neoplasia (CIN) 2 or 3. (PubMed id 15514969)1, 4, 9 Henao O.L....Partridge E.E. (Int. J. Cancer 2005)
    5. The effects of polymorphisms in methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR), and methionine synthase reductase (MTRR) on the risk of cervical intraepithelial neoplasia and cervical cancer in Korean women. (PubMed id 19760026)1, 4, 9 Tong S.Y....Kwon Y.I. (amp 2010)
    6. Impact of methylenetetrahydrofolate reductase (MTHFR) codon (677) and methionine synthase (MS) codon (2756) on risk of cervical carcinogenesis in North Indian population. (PubMed id 18351371)1, 4, 9 Shekari M....Suri V. (Arch. Gynecol. Obstet. 2008)
    7. Influence of a methionine synthase (D919G) polymorphism on plasma homocysteine and folate levels and relation to risk of myocardial infarction. (PubMed id 11257268)1, 4, 9 Chen J....Hunter D.J. (Atherosclerosis 2001)
    8. Association between the 2756A&gt; G variant in the gene encoding methionine synthase and myocardial infarction in Tunisian patients. (PubMed id 18844488)1, 4, 9 Jemaa R....Kaabachi N. (Clin. Chem. Lab. Med. 2008)
    9. Oxidative DNA damage and level of thiols as related to polymorphisms of MTHFR, MTR, MTHFD1 in Alzheimer's and Parkinson's diseases. (PubMed id 17691219)1, 4, 9 Dorszewska J....Kozubski W. (Acta Neurobiol Exp (Wars) 2007)
    10. 5-Methyltetrahydrofolate-homocysteine methyltransferase gene polymorphism (MTR) and risk of head and neck cancer. (PubMed id 20490431)1, 4, 9 Galbiatti A.L....Goloni-Bertollo E.M. (Braz. J. Med. Biol. Res. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 4548 HGNC: 7468 AceView: MTR Ensembl:ENSG00000116984 euGenes: HUgn4548
    ECgene: MTR Kegg: 4548 H-InvDB: MTR

    (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 MTR Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/5-Methyltetrahydrofolate-homocysteine_methyltransferase

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

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



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