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 201... See more...

Aliases for TGM6 Gene

Aliases for TGM6 Gene

  • Transglutaminase 6 2 3 5
  • Protein-Glutamine Gamma-Glutamyltransferase 6 2 3 4
  • Transglutaminase Y 3 4
  • EC 2.3.2.13 4 54
  • TGase Y 3 4
  • TGase-6 3 4
  • TGM3L 3 4
  • TG6 3 4
  • TGY 3 4
  • Spinocerebellar Ataxia 35 2
  • Transglutaminase-3-Like 4
  • Transglutaminase 3-Like 2
  • Transglutaminase-6 4
  • TGase-3-Like 4
  • DJ734P14.3 3
  • SCA35 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 Leukemia, Acute Myeloid. Gene Ontology (GO) annotations related to this gene include protein-glutamine gamma-glutamyltransferase activity. An important paralog of this gene is ENSG00000286022.

UniProtKB/Swiss-Prot Summary for TGM6 Gene

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

Additional gene information for TGM6 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TGM6 Gene

Genomics for TGM6 Gene

GeneHancer (GH) Regulatory Elements for TGM6 Gene

Promoters and enhancers for TGM6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J002379 Enhancer 0.7 Ensembl ENCODE 750.6 -1.2 -1208 1.8 SP7 IKZF1 ELF1 BCL11A RUNX3 BCOR ZMYM3 TGM6 HSALNG0128181
GH20J002311 Enhancer 1.3 FANTOM5 Ensembl ENCODE 11.4 -67.6 -67608 8.2 ZBTB40 SMARCE1 POLR2A TCF7L2 MYC L3MBTL2 MAX DACH1 TEAD4 SP1 TGM6 SIRPA HSALNG0128178 LOC105372503 TGM3 ENSG00000286022
GH20J002330 Enhancer 0.8 Ensembl ENCODE 11.7 -50.9 -50907 2 MYC MAX ZIC2 RXRA ZBTB8A RFX1 OSR2 CREB1 ZNF423 ZNF18 TGM6 TGM3 HSALNG0128178 HSALNG0128181 ENSG00000286022
GH20J002236 Enhancer 0.7 ENCODE CraniofacialAtlas 11.1 -143.8 -143836 1.8 CTCF RAD21 SP1 RXRA FOS ATF3 GABPA YY1 NR2F2 ZNF366 TGM3 TGM6 ENSG00000286022 ENSG00000287561 LOC388780 piR-60985-061
GH20J002234 Enhancer 0.7 ENCODE CraniofacialAtlas 11.1 -145.9 -145918 1.3 ZBTB6 ZIC2 POLR2A ZNF561 ZBTB17 PRDM6 GLIS1 ZMYM3 TGM3 TGM6 LOC388780 ENSG00000286022 ENSG00000287561 piR-60985-061
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TGM6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TGM6 gene promoter:
  • AP-1
  • Bach2
  • c-Fos
  • c-Jun
  • En-1
  • FOXC1
  • NCX
  • NRSF form 1
  • NRSF form 2
  • S8

Genomic Locations for TGM6 Gene

Genomic Locations for TGM6 Gene
chr20:2,380,908-2,432,753
(GRCh38/hg38)
Size:
51,846 bases
Orientation:
Plus strand
chr20:2,361,554-2,413,399
(GRCh37/hg19)
Size:
51,846 bases
Orientation:
Plus strand

Genomic View for TGM6 Gene

Genes around TGM6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TGM6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TGM6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TGM6 Gene

Selected DME Specific Peptides for TGM6 Gene

O95932:
  • YKYPEGS
  • LVVRRGQ
  • YGQCWVFA

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 & Families for TGM6 Gene

Gene Families for TGM6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for TGM6 Gene

GenScript: Design optimal peptide antigens:
  • Transglutaminase-6 (TGM3L_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95932

UniProtKB/Swiss-Prot:

TGM3L_HUMAN :
  • Belongs to the transglutaminase superfamily. Transglutaminase family.
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 Function:
Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-glutaminyl-[protein] + L-lysyl-[protein] = [protein]-L-lysyl-N(6)-5-L-glutamyl-[protein] + NH4(+); Xref=Rhea:RHEA:54816, Rhea:RHEA-COMP:9752, Rhea:RHEA-COMP:10207, Rhea:RHEA-COMP:14005, ChEBI:CHEBI:28938, ChEBI:CHEBI:29969, ChEBI:CHEBI:30011, ChEBI:CHEBI:138370; EC=2.3.2.13; Evidence=. ;.

Enzyme Numbers (IUBMB) for TGM6 Gene

Phenotypes From GWAS Catalog 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:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with TGM6: view
genes like me logo Genes that share phenotypes with TGM6: view

Human Phenotype Ontology for TGM6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TGM6 Gene

MGI Knock Outs for TGM6:
  • Tgm6 Tgm6<tm1a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TGM6

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for TGM6 Gene

Localization for TGM6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TGM6 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TGM6 gene
Compartment Confidence
cytosol 3
plasma membrane 2
extracellular 1
mitochondrion 1
nucleus 1
peroxisome 0
endoplasmic reticulum 0
lysosome 0
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for TGM6 Gene

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TGM6 Gene

Pathways & Interactions for TGM6 Gene

PathCards logo

SuperPathways for TGM6 Gene

No Data Available

Interacting Proteins for TGM6 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 6)
STRING Interaction Network
Selected Interacting proteins: ENSP00000202625 O95932-TGM3L_HUMAN for TGM6 Gene via STRING IID

Gene Ontology (GO) - Biological Process for TGM6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0018149 peptide cross-linking IBA 21873635
genes like me logo Genes that share ontologies with TGM6: view

No data available for Pathways by source and SIGNOR curated interactions for TGM6 Gene

Drugs & Compounds for TGM6 Gene

(4) Drugs for TGM6 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Glutamine Approved, Investigational Nutra Full agonist, Agonist, Enzyme, substrate 0
Taurine Approved Nutra Enzyme, substrate Non-selective, endogenous glycine receptor partial agonist 39
Ammonia Approved Pharma 0
Calcium Approved Nutra 7773
genes like me logo Genes that share compounds with TGM6: view

Transcripts for TGM6 Gene

mRNA/cDNA for TGM6 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TGM6

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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) (x39.7) and Skin - Sun Exposed (Lower leg) (x7.4).

Protein differential expression in normal tissues from HIPED for TGM6 Gene

This gene is overexpressed in Adipocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TGM6 Gene



Protein tissue co-expression partners for TGM6 Gene

NURSA nuclear receptor signaling pathways regulating expression of TGM6 Gene:

TGM6

SOURCE GeneReport for Unigene cluster for TGM6 Gene:

Hs.452039

Evidence on tissue expression from TISSUES for TGM6 Gene

  • Lung(4)
  • Nervous system(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TGM6 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • eye
  • head
  • neck
Limb:
  • foot
  • lower limb
General:
  • spinal cord
genes like me logo Genes that share expression patterns 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 33 32
  • 98.54 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TGM6 33 32
  • 88.16 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TGM6 33 32
  • 87.68 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tgm6 17 33 32
  • 84.8 (n)
rat
(Rattus norvegicus)
Mammalia Tgm6 32
  • 84.78 (n)
oppossum
(Monodelphis domestica)
Mammalia TGM6 33
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 45 (a)
ManyToMany
chicken
(Gallus gallus)
Aves TGM6 33 32
  • 62.52 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TGM6 33
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101730677 32
  • 56.21 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC559691 32
  • 53.45 (n)
tgm8 33
  • 42 (a)
OneToMany
Species where no ortholog for TGM6 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TGM6: view image

Paralogs for TGM6 Gene

Paralogs for TGM6 Gene

(9) SIMAP similar genes for TGM6 Gene using alignment to 1 proteins:

  • TGM3L_HUMAN
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 Variation AA Info Type
rs116904482 likely-benign, benign, Spinocerebellar Ataxia, Dominant, not provided 2,403,658(+) G/A/C coding_sequence_variant, missense_variant
rs138323389 likely-benign, Spinocerebellar Ataxia, Dominant 2,403,399(+) A/G coding_sequence_variant, missense_variant
rs138807504 likely-benign, Spinocerebellar Ataxia, Dominant 2,432,517(+) G/C coding_sequence_variant, missense_variant
rs139796716 likely-benign, Spinocerebellar Ataxia, Dominant 2,394,456(+) C/G/T coding_sequence_variant, missense_variant, synonymous_variant
rs140719871 likely-benign, Spinocerebellar Ataxia, Dominant 2,417,418(+) G/A/T coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv2758778 CNV gain 17122850
esv3303643 CNV mobile element insertion 20981092
esv3309732 CNV mobile element insertion 20981092
esv3393624 CNV insertion 20981092
esv3438037 CNV insertion 20981092
esv3440700 CNV insertion 20981092
esv34630 CNV gain 17911159
esv3644998 CNV gain 21293372
nsv458850 CNV gain 19166990
nsv470535 CNV gain 18288195
nsv585263 CNV gain 21841781
nsv585264 CNV loss 21841781
nsv828671 CNV gain 20364138
nsv9781 CNV gain+loss 18304495

Variation tolerance for TGM6 Gene

Residual Variation Intolerance Score: 99.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.48; 71.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TGM6 Gene

Human Gene Mutation Database (HGMD)
TGM6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TGM6

SNP Genotyping and Copy Number Assay Products

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

Disorders for TGM6 Gene

MalaCards: The human disease database

(10) MalaCards diseases for TGM6 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search TGM6 in MalaCards View complete list of genes associated with diseases

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, ECO:0000269 PubMed:29053796}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TGM6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TGM6: view

No data available for Genatlas for TGM6 Gene

Publications for TGM6 Gene

  1. TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing. (PMID: 21106500) Wang JL … Tang BS (Brain : a journal of neurology 2010) 2 3 4 56
  2. Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. (PMID: 29053796) Nibbeling EAR … Verbeek DS (Brain : a journal of neurology 2017) 3 4 56
  3. Spinocerebellar ataxia 35: novel mutations in TGM6 with clinical and genetic characterization. (PMID: 25253745) Guo YC … Soong BW (Neurology 2014) 3 4 56
  4. Spinocerebellar ataxia type 35 (SCA35)-associated transglutaminase 6 mutants sensitize cells to apoptosis. (PMID: 23206699) Guan WJ … Tang BS (Biochemical and biophysical research communications 2013) 3 4 56
  5. Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family. (PMID: 22554020) Li M … Sham PC (Clinical genetics 2013) 3 4 56

Products for TGM6 Gene

Sources for TGM6 Gene