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Aliases for TGM6 Gene

Aliases for TGM6 Gene

  • Transglutaminase 6 2 3
  • TG6 3 4 6
  • TGY 3 4 6
  • Transglutaminase Y 3 4
  • EC 2.3.2.13 4 63
  • TGase Y 3 4
  • TGase-6 3 4
  • TGM3L 3 4
  • SCA35 3 6
  • Protein-Glutamine Gamma-Glutamyltransferase 6 3
  • Spinocerebellar Ataxia 35 2
  • Transglutaminase 3-Like 2
  • Transglutaminase-3-Like 4
  • Transglutaminase-6 4
  • TGase-3-Like 4
  • DJ734P14.3 3

External Ids for TGM6 Gene

Previous HGNC Symbols for TGM6 Gene

  • TGM3L

Previous GeneCards Identifiers for TGM6 Gene

  • GC20P002356
  • GC00U917007
  • GC20P002309

Summaries for TGM6 Gene

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 35 and spinocerebellar ataxia type35. GO annotations related to this gene include protein-glutamine gamma-glutamyltransferase activity. An important paralog of this gene is F13A1.

UniProtKB/Swiss-Prot for TGM6 Gene

  • Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TGM6 Gene

Genomics for TGM6 Gene

Regulatory Elements for TGM6 Gene

Genomic Location for TGM6 Gene

Start:
2,380,908 bp from pter
End:
2,432,753 bp from pter
Size:
51,846 bases
Orientation:
Plus strand

Genomic View for TGM6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TGM6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TGM6 Gene

Proteins for TGM6 Gene

  • Protein details for TGM6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95932-TGM3L_HUMAN
    Recommended name:
    Protein-glutamine gamma-glutamyltransferase 6
    Protein Accession:
    O95932
    Secondary Accessions:
    • Q5JXU4
    • Q5JXU5
    • Q719M2
    • Q719M3
    • Q9Y4U8

    Protein attributes for TGM6 Gene

    Size:
    706 amino acids
    Molecular mass:
    79312 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Note=Binds up to 3 Ca(2+) cations per subunit.;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TGM6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TGM6 Gene

Proteomics data for TGM6 Gene at MOPED

Selected DME Specific Peptides for TGM6 Gene

Post-translational modifications for TGM6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TGM6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains for TGM6 Gene

Gene Families for TGM6 Gene

HGNC:
  • TGM :Transglutaminases

Suggested Antigen Peptide Sequences for TGM6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95932

UniProtKB/Swiss-Prot:

TGM3L_HUMAN :
  • O95932
Family:
  • Belongs to the transglutaminase superfamily. Transglutaminase family.
genes like me logo Genes that share domains with TGM6: view

Function for TGM6 Gene

Molecular function for TGM6 Gene

UniProtKB/Swiss-Prot CatalyticActivity: Protein glutamine + alkylamine = protein N(5)-alkylglutamine + NH(3).
UniProtKB/Swiss-Prot Function: Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins.

Enzyme Numbers (IUBMB) for TGM6 Gene

Gene Ontology (GO) - Molecular Function for TGM6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003810 protein-glutamine gamma-glutamyltransferase activity IDA 23206699
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with TGM6: view

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for TGM6 Gene

Localization for TGM6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TGM6 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TGM6 Gene COMPARTMENTS Subcellular localization image for TGM6 gene
Compartment Confidence
cytosol 3
plasma membrane 3
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TGM6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 23206699
genes like me logo Genes that share ontologies with TGM6: view

Pathways for TGM6 Gene

SuperPathways for TGM6 Gene

No Data Available

Interacting Proteins for TGM6 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000202625%0d%0a9606.ENSP00000392709%0d%0a
Selected Interacting proteins: ENSP00000202625 for TGM6 Gene via STRING

Symbol External ID(s) Details
NDUFS1

Gene Ontology (GO) - Biological Process for TGM6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008219 cell death --
GO:0018149 peptide cross-linking IEA --
genes like me logo Genes that share ontologies with TGM6: view

No data available for Pathways by source for TGM6 Gene

Compounds for TGM6 Gene

(3) HMDB Compounds for TGM6 Gene

Compound Synonyms Cas Number PubMed IDs
Ammonia
  • NH3
7664-41-7
Calcium
  • Ca
7440-70-2
L-Glutamine
  • (2S)-2,5-diamino-5-oxopentanoic acid
56-85-9

(1) Drugbank Compounds for TGM6 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
L-Glutamine
  • (S)-2,5-diamino-5-oxopentanoic acid
56-85-9 enzyme substrate
genes like me logo Genes that share compounds with TGM6: view

Transcripts for TGM6 Gene

mRNA/cDNA for TGM6 Gene

(4) Selected AceView cDNA sequences:
(2) Additional mRNA sequences :
(2) REFSEQ mRNAs :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TGM6 Gene

Transglutaminase 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TGM6 Gene

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

Relevant External Links for TGM6 Gene

GeneLoc Exon Structure for
TGM6
ECgene alternative splicing isoforms for
TGM6

Expression for TGM6 Gene

mRNA expression in normal human tissues for TGM6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TGM6 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (39.7) and Skin - Sun Exposed (Lower leg) (7.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TGM6 Gene

SOURCE GeneReport for Unigene cluster for TGM6 Gene Hs.452039

genes like me logo Genes that share expressions with TGM6: view

No data available for mRNA Expression by UniProt/SwissProt for TGM6 Gene

Orthologs for TGM6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TGM6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TGM6 35
  • 98.54 (n)
  • 98.02 (a)
TGM6 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TGM6 35
  • 88.16 (n)
  • 86.65 (a)
TGM6 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TGM6 35
  • 87.68 (n)
  • 86.4 (a)
TGM6 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tgm6 35
  • 84.8 (n)
  • 85.69 (a)
Tgm6 16
Tgm6 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TGM6 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 45 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Tgm6 35
  • 84.78 (n)
  • 84.82 (a)
chicken
(Gallus gallus)
Aves TGM6 35
  • 62.52 (n)
  • 56.51 (a)
TGM6 36
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TGM6 36
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101730677 35
  • 56.21 (n)
  • 49 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC559691 35
  • 53.45 (n)
  • 44.48 (a)
tgm8 36
  • 42 (a)
OneToMany
Species with no ortholog for TGM6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TGM6 Gene

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

Paralogs for TGM6 Gene

Paralogs for TGM6 Gene

Selected SIMAP similar genes for TGM6 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TGM6: view

Variants for TGM6 Gene

Sequence variations from dbSNP and Humsavar for TGM6 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs742823 -- 2,405,143(+) CCACT(C/T)GGCCT intron-variant
rs1003488 -- 2,417,112(-) CCTTG(C/T)GTTTG intron-variant
rs1004268 -- 2,415,575(+) TTTGT(A/G/T)tggtg intron-variant
rs1004269 -- 2,417,010(+) ATTAT(A/C)TGAGG intron-variant
rs1474678 -- 2,389,596(-) ATTCA(A/T)TTTCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TGM6 Gene

Variant ID Type Subtype PubMed ID
nsv470535 CNV Gain 18288195
dgv1303e1 CNV Complex 17122850
nsv458850 CNV Gain 19166990
nsv9781 CNV Gain+Loss 18304495
nsv828671 CNV Gain 20364138
esv34630 CNV Gain 17911159
nsv483148 CNV Gain 15286789
esv267922 CNV Insertion 20981092
esv274004 CNV Insertion 20981092

Relevant External Links for TGM6 Gene

HapMap Linkage Disequilibrium report
TGM6
Human Gene Mutation Database (HGMD)
TGM6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TGM6 Gene

Disorders for TGM6 Gene

(1) OMIM Diseases for TGM6 Gene (613900)

UniProtKB/Swiss-Prot

TGM3L_HUMAN
  • 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. {ECO:0000269 PubMed:21106500, ECO:0000269 PubMed:22554020, ECO:0000269 PubMed:23206699, ECO:0000269 PubMed:25253745}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TGM6

Genetic Association Database (GAD)
TGM6
Human Genome Epidemiology (HuGE) Navigator
TGM6
genes like me logo Genes that share disorders with TGM6: view

Publications for TGM6 Gene

  1. TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing. (PMID: 21106500) Wang J.L. … Tang B.S. (Brain 2010) 2 3 4
  2. Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family. (PMID: 22554020) Li M. … Sham P.C. (Clin. Genet. 2013) 3 4
  3. Spinocerebellar ataxia type 35 (SCA35)-associated transglutaminase 6 mutants sensitize cells to apoptosis. (PMID: 23206699) Guan W.J. … Tang B.S. (Biochem. Biophys. Res. Commun. 2013) 3 4
  4. Autoantibodies in gluten ataxia recognize a novel neuronal transglutaminase. (PMID: 18825674) Hadjivassiliou M. … Aeschlimann D. (Ann. Neurol. 2008) 3 23
  5. 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. (PMID: 11390390) Grenard P. … Aeschlimann D. (J. Biol. Chem. 2001) 2 3

Products for TGM6 Gene

Sources for TGM6 Gene

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