Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



TGM6 Gene

protein-coding   GIFtS: 50
GCID: GC20P002309

Transglutaminase 6

(Previous name: transglutaminase 3-like)
(Previous symbol: TGM3L)
  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
Transglutaminase 61 2     SCA352 5
TGM3L1 2 3     Spinocerebellar Ataxia 351
TG62 3 5     Transglutaminase 3-Like1
TGY2 3 5     dJ734P14.32
Transglutaminase Y2 3     Protein-Glutamine Gamma-Glutamyltransferase 62
TGase-62 3     TGase-3-like3
TGase Y2 3     Transglutaminase-3-like3
EC 2.3.2.133 8     Transglutaminase-63

External Ids:    HGNC: 162551   Entrez Gene: 3436412   Ensembl: ENSG000001669487   OMIM: 6139005   UniProtKB: O959323   

Export aliases for TGM6 gene to outside databases

Previous GC identifers: GC20P002356 GC00U917007


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

TryGeneCards Plus

Entrez Gene summary for TGM6 Gene:
The protein encoded by this gene belongs to the transglutaminase superfamily. It catalyzes the cross-linking of
proteins and the conjugation of polyamines to proteins. Mutations in this gene are associated with
spinocerebellar ataxia type 35 (SCA35). Alternatively spliced transcript variants encoding different isoforms
have been found for this gene. (provided by RefSeq, Dec 2011)

GeneCards Summary for TGM6 Gene:
TGM6 (transglutaminase 6) is a protein-coding gene. Diseases associated with TGM6 include spinocerebellar ataxia type35, and spinocerebellar ataxia 35. GO annotations related to this gene include protein-glutamine gamma-glutamyltransferase activity. An important paralog of this gene is TGM3.

UniProtKB/Swiss-Prot: TGM3L_HUMAN, O95932
Function: Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins (By similarity)




(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_000020.11  NC_018931.2  NT_011387.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the TGM6 gene promoter:
         c-Fos   AP-1   NRSF form 1   Bach2   NCX/Ncx   NRSF form 2   S8   FOXC1   c-Jun   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TGM6 promoter sequence
   Search Chromatin IP Primers for TGM6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TGM6


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

Entrez Gene cytogenetic band: 20p13   Ensembl cytogenetic band:  20p13   HGNC cytogenetic band: 20p13

TGM6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TGM6 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P002309:  view genomic region     (about GC identifiers)

Start:
2,361,554 bp from pter      End:
2,413,399 bp from pter
Size:
51,846 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, and/or Cloud-Clone Corp.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: TGM3L_HUMAN, O95932 (See protein sequence)
Recommended Name: Protein-glutamine gamma-glutamyltransferase 6  
Size: 706 amino acids; 79312 Da
Cofactor: Calcium. Binds up to 3 calcium ions per subunit (By similarity)
Secondary accessions: Q5JXU4 Q5JXU5 Q719M2 Q719M3 Q9Y4U8
Alternative splicing: 2 isoforms:  O95932-1   O95932-2   

Explore the universe of human proteins at neXtProt for TGM6: NX_O95932

Explore proteomics data for TGM6 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for TGM6 (O95932)
     LVVRRGQ  YKYPEGS  YGQCWVFA 


    See TGM6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001241663.1  NP_945345.2  

    ENSEMBL proteins: 
     ENSP00000202625   ENSP00000370831  

    TGM6 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 TGM6
    OriGene Custom MassSpec
    OriGene Custom Protein Services for TGM6
    GenScript Custom Purified and Recombinant Proteins Services for TGM6
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TGM6

    TGM6 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for TGM6
    OriGene Custom Antibody Services for TGM6
    Abcam antibodies for TGM6
    Cloud-Clone Corp. Antibodies for TGM6
    ThermoFisher Antibody for TGM6
    Search LSBio for Antibodies for TGM6

    TGM6 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for TGM6
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for TGM6
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TGM6
    Cloud-Clone Corp. CLIAs for TGM6


    (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:
    TGM: Transglutaminases

    Selected InterPro protein domains (see all 7):
     IPR008958 Transglutaminase_C
     IPR014756 Ig_E-set
     IPR023608 Gln_gamma-glutamylTfrase_euk
     IPR001102 Transglutaminase_N
     IPR013808 Transglutaminase_CS

    Graphical View of Domain Structure for InterPro Entry O95932

    ProtoNet protein and cluster: O95932

    1 Blocks protein domain: IPB002931 Transglutaminase-like domain

    UniProtKB/Swiss-Prot: TGM3L_HUMAN, O95932
    Similarity: Belongs to the transglutaminase superfamily. Transglutaminase family


    TGM6 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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TGM3L_HUMAN, O95932
    Function: Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins (By similarity)
    Catalytic activity: Protein glutamine + alkylamine = protein N(5)-alkylglutamine + NH(3)

         Enzyme Number (IUBMB): EC 2.3.2.131 2

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003810protein-glutamine gamma-glutamyltransferase activity IDA--
    GO:0046872metal ion binding IEA--
         
    TGM6 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TGM6
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TGM6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TGM6
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TGM6

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat TGM6 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate TGM6
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TGM6
    Predesigned siRNA for gene silencing in human, mouse, rat TGM6

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TGM6

    Clone
    Products:
         
    OriGene clones in human, mouse for TGM6 (see all 5)
    OriGene ORF clones in mouse, rat for TGM6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TGM6 (NM_198994)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TGM6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TGM6

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for TGM6
    Browse ESI BIO Cell Lines and PureStem Progenitors for TGM6 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGM6


    (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
    cytosol3
    plasma membrane3
    endoplasmic reticulum1
    golgi apparatus1
    lysosome1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    TGM6 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).
    About This Section

    TryGeneCards Plus



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TGM6
    Interactions:

        Search GeneGlobe Interaction Network for TGM6

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008219cell death IEA--
    GO:0018149peptide cross-linking IEA--

    TGM6 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 TGM6 (TGM3L)

    3 HMDB Compounds for TGM6    About this table
    CompoundSynonyms CAS #PubMed Ids
    AmmoniaNH3 (see all 31)7664-41-7--
    CalciumCa (see all 2)7440-70-2--
    L-Glutamine(2S)-2,5-diamino-5-oxopentanoic acid (see all 31)56-85-9--

    1 DrugBank Compound for TGM6    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Glutamine(S)-2,5-diamino-5-oxopentanoic acid (see all 4)56-85-9enzymesubstrate17139284 17016423



    (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 TGM6 gene (2 alternative transcripts): 
    NM_001254734.1  NM_198994.2  

    Unigene Cluster for TGM6:

    Transglutaminase 6
    Hs.452039
    Unigene Representative Sequence: AF540969
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000202625(uc002wfy.1) ENST00000381423(uc010gal.1) ENST00000477505

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat TGM6 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate TGM6
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for TGM6
    Predesigned siRNA for gene silencing in human, mouse, rat TGM6
    Clone
    Products:
         
    OriGene clones in human, mouse for TGM6 (see all 5)
    OriGene ORF clones in mouse, rat for TGM6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TGM6 (NM_198994)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TGM6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TGM6
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for TGM6
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TGM6
      QuantiTect SYBR Green Assays in human, mouse, rat TGM6
      QuantiFast Probe-based Assays in human, mouse, rat TGM6

    Additional mRNA sequence: 

    AF540969.1 AF540970.1 

    1 DOTS entry:

    DT.101978698 

    4 AceView cDNA sequences:

    AF540969 AF540970 NM_198994 AW245863 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for TGM6    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
    SP1:                                                                              
    SP2:                                                                    -         


    ECgene alternative splicing isoforms for TGM6

    (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

    TGM6 expression in normal human tissues (normalized intensities)      TGM6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAGCCAGGA
    TGM6 Expression
    About this image


    TGM6 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
     
     Limb (Muscoskeletal System)
             Limb Muscle Progenitor Cells Forelimb Myotome
     
     Skeletal Muscle (Muscoskeletal System)
             Limb Muscle Progenitor Cells Forelimb Myotome
    TGM6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TGM6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.452039
        Custom PCR Arrays for TGM6
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for TGM6
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TGM6
    QuantiTect SYBR Green Assays in human, mouse, rat TGM6
    QuantiFast Probe-based Assays in human, mouse, rat TGM6
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGM6

    (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 chordates.

    Orthologs for TGM6 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tgm61 , 5 transglutaminase 61, 5 84.8(n)1
    85.69(a)1
      2 (63.19 cM)5
    2416361  NM_177726.31  NP_808394.11 
     1301124165 
    chicken
    (Gallus gallus)
    Aves TGM61 transglutaminase 6 62.52(n)
    56.51(a)
      771144  XM_001234441.2  XP_001234442.2 
    lizard
    (Anolis carolinensis)
    Reptilia TGM66
    transglutaminase 6
    47(a)
    1 ↔ 1
    GL344647.1(314-25955)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1017306771 protein-glutamine gamma-glutamyltransferase E-like 56.21(n)
    49(a)
      101730677  XM_004918650.1  XP_004918707.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5596911 protein-glutamine gamma-glutamyltransferase 2-like 53.45(n)
    44.48(a)
      559691  XM_683054.6  XP_688146.6 


    ENSEMBL Gene Tree for TGM6 (if available)
    TreeFam Gene Tree for TGM6 (if available)

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

    TryGeneCards Plus
    Paralogs for TGM6 gene
    TGM32  F13A12  TGM12  EPB422  TGM52  TGM72  TGM42  TGM22  
    9 SIMAP similar genes for TGM6 using alignment to 1 protein entry:     TGM3L_HUMAN:
    TGM5    TGM3    hTGP    TGM7    TGM2    TGM4
    F13A1    TGM1    EPB42

    TGM6 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 TGM6 (see all 1443)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0653604
    Spinocerebellar ataxia 35 (SCA35)4--see VAR_0653602 D G mis40--------
    VAR_0653614
    Spinocerebellar ataxia 35 (SCA35)4--see VAR_0653612 L W mis40--------
    rs1854504161,2
    C--2307019(+) GCTCCC/TGTCTG 2 -- us2k10--------
    rs1392321831,2
    --2307131(+) AAGTGA/GCCTGC 2 -- us2k10--------
    rs2010605021,2
    --2307131(+) AGTGA-/GCCTGC 2 -- us2k10--------
    rs1457634671,2
    --2307145(+) GGTCA-/CCCC  
            
    CACAG
    2 -- us2k10--------
    rs99174401,2
    C--2307229(+) GggccA/Gggtgc 2 -- us2k10--------
    rs60830011,2
    C,F,A,H--2307250(+) ACTTGG/TAATCT 2 -- us2k121Minor allele frequency- T:0.42NS EA NA WA CSA 1989
    rs1893848931,2
    --2307351(+) ATACAC/TAAAAA 2 -- us2k10--------
    rs285054541,2
    C,F--2307363(+) TTAGCC/TGGGCA 2 -- us2k12Minor allele frequency- T:0.00NA 4

    HapMap Linkage Disequilibrium report for TGM6 (2361554 - 2413399 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for TGM6:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv274004CNV Insertion20981092
    esv267922CNV Insertion20981092
    nsv458850CNV Gain19166990
    nsv470535CNV Gain18288195
    esv34630CNV Gain17911159
    nsv483148CNV Gain15286789
    nsv828671CNV Gain20364138
    nsv9781CNV Gain+Loss18304495
    dgv1303e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): TGM6
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TGM6
    DNA2.0 Custom Variant and Variant Library Synthesis for TGM6

    (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
    OMIM gene information: 613900   
    OMIM disorders: 613908  
    UniProtKB/Swiss-Prot: TGM3L_HUMAN, O95932
  • Spinocerebellar ataxia 35 (SCA35) [MIM:613908]: A form of spinocerebellar ataxia, a clinically and
    genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and
    often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable
    involvement of the brainstem and spinal cord. SCA35 patients commonly show upper limb involvement and
    torticollis. There is no cognitive impairment. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 13 diseases for TGM6:    About MalaCards
    spinocerebellar ataxia type35    spinocerebellar ataxia 35    spinocerebellar ataxia    dermatitis herpetiformis
    ataxia    cerebellar ataxia    celiac disease    dermatitis
    hiv-1    multiple myeloma    alzheimer's disease    myeloma
    neuronitis


    TGM6 for disorders           About GeneDecksing

    Genetic Association Database (GAD): TGM6
    Human Genome Epidemiology (HuGE) Navigator: TGM6 (2 documents)

    Export disorders for TGM6 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 TGM6 gene, integrated from 10 sources (see all 21):
    (articles sorted by number of sources associating them with TGM6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing. (PubMed id 21106500)1, 2, 3 Wang J.L.... Tang B.S. (Brain 2010)
    2. Evolution of transglutaminase genes: identification of a transglutaminase gene cluster on human chromosome 15q15. Structure of the gene encoding transglutaminase X and a novel gene family member, transglutaminase Z. (PubMed id 11390390)1, 3 Grenard P.... Aeschlimann D. (J. Biol. Chem. 2001)
    3. Autoantibodies in gluten ataxia recognize a novel neuronal transglutaminase. (PubMed id 18825674)1, 9 Hadjivassiliou M....Aeschlimann D. (Ann. Neurol. 2008)
    4. Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. (PubMed id 23535033)1 Sherva R....Green R.C. (amp 2014)
    5. Transglutaminase 6 interacts with polyQ proteins and promotes the formation of polyQ aggregates. (PubMed id 23800413)1 Guan W.J....Wang J.L. (Biochem. Biophys. Res. Commun. 2013)
    6. Transglutaminase 6: a protein associated with central nervous system development and motor function. (PubMed id 21984379)1 Thomas H....Aeschlimann D. (Amino Acids 2013)
    7. Spinocerebellar ataxia type 35 (SCA35)-associated transglutaminase 6 mutants sensitize cells to apoptosis. (PubMed id 23206699)1 Guan W.J....Tang B.S. (Biochem. Biophys. Res. Commun. 2013)
    8. Transglutaminase 6 antibodies in the diagnosis of gluten ataxia. (PubMed id 23576621)1 Hadjivassiliou M....Aeschlimann D.P. (Neurology 2013)
    9. Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family. (PubMed id 22554020)1 Li M....Sham P.C. (Clin. Genet. 2013)
    10. Recent advances in the genetics of cerebellar ataxias. (PubMed id 22527681)1 Sailer A. and Houlden H. (Curr Neurol Neurosci Rep 2012)

    (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: 343641 HGNC: 16255 AceView: TGM6 Ensembl:ENSG00000166948 euGenes: HUgn343641
    ECgene: TGM6 H-InvDB: TGM6

    (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 TGM6 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 TGM6 gene:
    Search GeneIP for patents involving TGM6

    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  
     OriGene Antibodies for TGM6   OriGene RNAi products in human, mouse, rat for TGM6  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for TGM6  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for TGM6  
     OriGene qSTAR qPCR primer pairs in human, mouse for TGM6   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for TGM6   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for TGM6   OriGene Custom Protein Services for TGM6  

     
     
     Block miRNA regulation of human, mouse, rat TGM6 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing TGM6
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TGM6 Predesigned siRNA for gene silencing in human, mouse, rat TGM6
     QuantiFast Probe-based Assays in human, mouse, rat TGM6 QuantiTect SYBR Green Assays in human, mouse, rat TGM6
     Custom PCR Arrays for TGM6 Search Chromatin IP Primers for TGM6
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TGM6  Search GeneGlobe Interaction Network for TGM6
     Regulatory tfbs in TGM6 promoter
     GenScript Custom Purified and Recombinant Proteins Services for TGM6 GenScript cDNA clones with any tag delivered in your preferred vector for TGM6
     GenScript Custom Assay Services for TGM6 GenScript Custom overexpressing Cell Line Services for TGM6
     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 TGM6 (TGM3L)
     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 Biologicals
     Novus Tissue Slides
     Antibodies for TGM6
     See all of Abcam's Antibodies, Kits and Proteins for TGM6
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for TGM6
     Antibodies for TGM6
     ELISAs for TGM6
     CLIAs for TGM6



     Browse ESI BIO Cell Lines and PureStem Progenitors for TGM6
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGM6
     Browse SwitchGear 3'UTR luciferase reporter plasmids for TGM6
     SwitchGear Promoter luciferase reporter plasmids for TGM6
     ThermoFisher Antibody for TGM6
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TGM6
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TGM6
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TGM6
     Search LSBio for Antibodies for TGM6
    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      TGM6 gene at Home site.
    Version: 3.12.136 22 July 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4