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

TGM6 Gene

protein-coding   GIFtS: 52
GCID: GC20P002309

transglutaminase 6

(Previous name: transglutaminase 3-like )
(Previous symbol: TGM3L)
 Explore 7 diseases affiliated with
TGM6 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TGM6    

Aliases
for TGM6 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Transglutaminase 61 2     TGase Y2 3
TGM3L1 2 3     EC 2.3.2.133 8
TGY1 2 3     Transglutaminase 3-Like1
SCA351 2     Protein-Glutamine Gamma-Glutamyltransferase 62
DJ734P14.31     TGase-3-Like1
Transglutaminase Y2 3     Transglutaminase-3-Like1
TG62 3     Transglutaminase-63
TGase-62 3     

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


Summaries
for TGM6 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for TGM6:
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)

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




Genomic Views
for TGM6 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  NT_011387.8  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TGM6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for TGM6 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: TGM3L_HUMAN, O95932 (See protein sequence)
Recommended Name: Protein-glutamine gamma-glutamyltransferase 6  
Size: 706 amino acids; 79312 Da
Cofactor: Binds 1 calcium ion 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O95932

    • 3 DME Specific Peptides for TGM6 (O95932)
     LVVRRGQ  YKYPEGS  YGQCWVFA 

    TGM6 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000202625   ENSP00000370831  

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    Uscn Proteins for TGM6


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    Protein Domains /
    Families
    for TGM6 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TGM6 for domains           About GeneDecksing

    5/7 InterPro domains/families (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 family: IPB002931 Transglutaminase-like domain

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


    Function
    for TGM6 gene

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

         UniProtKB/Swiss-Prot: 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

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    Inhib. RNA
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    Gene Editing
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    Clone
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    Search LifeMap BioReagents cell lines for TGM6

    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003810protein-glutamine gamma-glutamyltransferase activity IEA--
    GO:0046872metal ion binding IEA--


    TGM6 for ontologies           About GeneDecksing



    Pathways & Interactions
    for TGM6 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TGM6

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

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


    TGM6 for ontologies           About GeneDecksing



    Drugs & Compounds
    for TGM6 gene

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

    Browse Tocris compounds for TGM6

    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

    Search CenterWatch for drugs/clinical trials and news about TGM6 / TGM3L 

    Transcripts
    for TGM6 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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


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    Inhib. RNA
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    Clone
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    Additional cDNA 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

    Expression
    for TGM6 gene

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

    TGM6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGAGCCAGGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    TGM6 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbForelimb MyotomeLimb Muscle Progenitor CellsSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See TGM6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TGM6

    SOURCE GeneReport for Unigene cluster: Hs.452039
        SABiosciences Custom PCR Arrays for TGM6
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGM6

    Orthologs
    for TGM6 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for TGM6 gene from 3/15 species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves TGM61 transglutaminase 6 62.45(n)
    56.47(a)    		   771144  XM_001234441.1  XP_001234442.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii tgm5l6
    		 transglutaminase 5, like
    		 36(a)
    		 possible ortholog
    		 Zv9_scaffold3522(24531-41501)
    fruit fly
    (Drosophila melanogaster)    		 Insecta Tg6
    		 Transglutaminase
    		 27(a)
    		 possible ortholog
    		 2L(8011405-8026898)


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

    Paralogs
    for TGM6 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TGM6 gene
    EPB422  TGM12  TGM52  TGM42  TGM32  F13A12  TGM72  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



    Genomic Variants
    for TGM6 gene

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

    10/1185 NCBI SNPs in TGM6 are shown (see all 1185)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 20 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs99174401,2
    		C,--2309494(+) GggccA/Gggtgc 2 -- us2k10--------
    rs735694221,2
    		C,--2309602(+) TGTCTC/TTACTT 2 -- us2k12Minor allele frequency- T:0.04WA 120
    rs285054541,2
    		--2309628(+) TTAGCC/TGGGCA 2 -- us2k12Minor allele frequency- T:0.00NA 4
    rs284292551,2
    		--2309645(+) CACACG/ACCTGT 2 -- us2k12Minor allele frequency- A:0.00NA 4
    rs284757781,2
    		--2309703(+) GGAAGT/CAGAGG 2 -- us2k13Minor allele frequency- C:0.06NA WA 122
    rs1167938061,2
    		C,F,--2309784(+) AAAAAC/TGAGGA 2 -- us2k11Minor allele frequency- T:0.07WA 118
    rs61139321,2
    		F,A,H,--2310248(+) TCCTTA/GCCCTT 2 -- us2k15Minor allele frequency- G:0.06NS EA WA 526
    rs768376231,2
    		--2310593(+) TACCCC/TACCGG 2 -- us2k10--------
    rs758644241,2
    		F,--2310806(+) GGCCAC/TCAGGC 2 -- us2k11Minor allele frequency- T:0.02WA 118
    rs39258621,2
    		H--2310867(-) ACTCAG/TAAGCT 2 -- us2k14Minor allele frequency- T:0.00NS EA 420

    HapMap Linkage Disequilibrium report for TGM6 (2361554 - 2413399 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for TGM6
         4 CNVs: 0222 8878 31030 4091
    Human Gene Mutation Database (HGMD): TGM6

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    Disorders / Diseases
    for TGM6 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    TGM6 for disorders           About GeneDecksing

    OMIM gene information: 613900    OMIM disorders: --

    UniProtKB/Swiss-Prot: TGM3L_HUMAN, O95932
  • Defects in TGM6 are the cause of spinocerebellar ataxia type 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

    7 diseases for TGM6:    About MalaCards
    spinocerebellar ataxia    ataxia    dermatitis herpetiformis    celiac disease
    dermatitis    immunodeficiency    neuronitis

    Human Genome Epidemiology (HuGE) Navigator: TGM6 (2 documents)

    Export disorders for TGM6 gene to outside databases

    Publications
    for TGM6 gene

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

    PubMed articles for TGM6 gene, integrated from 9 sources (see all 16):
    (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 spinocer ebellar ataxias using exome sequencing. (PubMed id 21106500)1, 2, 3 Wang J.L....Tang B.S. (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. (2001)
    3. Autoantibodies in gluten ataxia recognize a novel neuronal transglutaminase. (PubMed id 18825674)1, 9 Hadjivassiliou M....Aeschlimann D. (2008)
    4. Recent advances in the genetics of cerebellar ataxias. (PubMed id 22527681)1 Sailer A. and Houlden H. (2012)
    5. Transglutaminase 6: a protein associated with central nervous system development and motor function. (PubMed id 21984379)1 Thomas H....Aeschlimann D. (2011)
    6. IgA-class autoantibodies against neuronal transglutam inase, TG6 in celiac disease: no evidence for gluten dependency. (PubMed id 21453693)1 Lindfors K....Kaukinen K. (2011)
    7. Human inter-a-inhibitor is a substrate for factor XIII a and tissue transglutaminase. (PubMed id 21939789)1 Scavenius C....Enghild J.J. (2011)
    8. Gluten T cell epitope targeting by TG3 and TG6; impli cations for dermatitis herpetiformis and gluten ataxia. (PubMed id 20300788)1 Stamnaes J....Sollid L.M. (2010)
    9. Drugs, their targets and the nature and number of dru g targets. (PubMed id 17016423)7 Imming P....Meyer A. (2006)
    10. How many drug targets are there? (PubMed id 17139284)7 Overington J.P....Hopkins A.L. (2006)

    External Searches for TGM6 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing TGM6 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 343641 HGNC: 16255 AceView: TGM6 Ensembl:ENSG00000166948 euGenes: HUgn343641
    ECgene: TGM6 H-InvDB: TGM6

    Other Databases showing TGM6 gene

    (According to HUGE)
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    Specialized Databases showing TGM6 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TGM6 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for TGM6 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for TGM6 gene:
    Search GeneIP for patents involving TGM6

    GeneCards and IP:
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