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Aliases for TGM3 Gene

Aliases for TGM3 Gene

  • Transglutaminase 3 2 3 5
  • E Polypeptide, Protein-Glutamine-Gamma-Glutamyltransferase 2 3
  • Transglutaminase E 3 4
  • EC 2.3.2.13 4 56
  • TGase E 3 4
  • TGase-3 3 4
  • TG(E) 3 4
  • TGE 3 4
  • Transglutaminase 3 (E Polypeptide, Protein-Glutamine-Gamma-Glutamyltransferase) 2
  • Protein-Glutamine Gamma-Glutamyltransferase E 3
  • Transglutaminase-3 4
  • UHS2 3

External Ids for TGM3 Gene

Previous GeneCards Identifiers for TGM3 Gene

  • GC20P002264
  • GC20P002271
  • GC20P002224

Summaries for TGM3 Gene

Entrez Gene Summary for TGM3 Gene

  • Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene consists of two polypeptide chains activated from a single precursor protein by proteolysis. The encoded protein is involved the later stages of cell envelope formation in the epidermis and hair follicle. [provided by RefSeq, Jul 2008]

GeneCards Summary for TGM3 Gene

TGM3 (Transglutaminase 3) is a Protein Coding gene. Diseases associated with TGM3 include Uncombable Hair Syndrome 2 and Uncombable Hair Syndrome 1. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein-glutamine gamma-glutamyltransferase activity. An important paralog of this gene is TGM6.

UniProtKB/Swiss-Prot for TGM3 Gene

  • Catalyzes the calcium-dependent formation of isopeptide cross-links between glutamine and lysine residues in various proteins, as well as the conjugation of polyamines to proteins. Involved in the formation of the cornified envelope (CE), a specialized component consisting of covalent cross-links of proteins beneath the plasma membrane of terminally differentiated keratinocytes. Catalyzes small proline-rich proteins (SPRR1 and SPRR2) and LOR cross-linking to form small interchain oligomers, which are further cross-linked by TGM1 onto the growing CE scaffold (By similarity). In hair follicles, involved in cross-linking structural proteins to hardening the inner root sheath.

Gene Wiki entry for TGM3 Gene

Additional gene information for TGM3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TGM3 Gene

Genomics for TGM3 Gene

GeneHancer (GH) Regulatory Elements for TGM3 Gene

Promoters and enhancers for TGM3 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
GH20I002297 Enhancer 0.5 ENCODE 550.8 +1.4 1443 0.2 USF1 ZNF189 GLIS1 ZIC2 TGM3 LOC105372503
GH20I002295 Promoter 0.5 EPDnew 550.8 +0.0 15 0.1 TGM3 LOC105372503
GH20I002296 Enhancer 0.2 ENCODE 550.8 +0.4 423 0.2 TGM3 LOC105372503
GH20I002206 Promoter/Enhancer 1.4 Ensembl ENCODE 17.6 -88.6 -88601 1.5 HDGF ARID4B SIN3A ZNF2 ZNF48 GLIS2 ELK1 ARID2 ZNF143 ZNF548 LOC388780 ZNF343 TGM3 NOP56 VPS16 SNRPB STK35 GC20P002217
GH20I002210 Enhancer 1.2 FANTOM5 Ensembl ENCODE 18.3 -84.8 -84757 1.4 CTCF ATF1 YBX1 FEZF1 RAD21 ATF2 ZNF121 ZFP3 ZSCAN5C CREB1 TGM3 SIRPA LOC388780 GC20P002217
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TGM3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TGM3 gene promoter:

Genomic Locations for TGM3 Gene

Genomic Locations for TGM3 Gene
chr20:2,295,967-2,341,079
(GRCh38/hg38)
Size:
45,113 bases
Orientation:
Plus strand
chr20:2,276,613-2,321,725
(GRCh37/hg19)

Genomic View for TGM3 Gene

Genes around TGM3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TGM3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TGM3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TGM3 Gene

Proteins for TGM3 Gene

  • Protein details for TGM3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q08188-TGM3_HUMAN
    Recommended name:
    Protein-glutamine gamma-glutamyltransferase E
    Protein Accession:
    Q08188
    Secondary Accessions:
    • A8K5N6
    • B2RCR6
    • D3DVX1
    • O95933
    • Q32ML9
    • Q32MM0

    Protein attributes for TGM3 Gene

    Size:
    693 amino acids
    Molecular mass:
    76632 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Consists of two polypeptide chains, which are synthesized as a precursor form of a single polypeptide.

    Three dimensional structures from OCA and Proteopedia for TGM3 Gene

neXtProt entry for TGM3 Gene

Selected DME Specific Peptides for TGM3 Gene

Q08188:
  • WNFGQFE
  • YKYPEGS
  • FIFAEVN
  • YGQCWVFA

Post-translational modifications for TGM3 Gene

  • Activated by proteolytic processing. In vitro activation is commonly achieved by cleavage with dispase, a neutral bacterial protease. Dispase cleavage site was proposed to lie between Ser-470 and Ser-471 (PubMed:8099584) or between Pro-465 and Phe-466 (PubMed:16565075). Physiological activation may be catalyzed by CTSL and, to a lesser extent, by CTSS, but not by CTSB, CTSD nor CTSV (PubMed:16565075).

Other Protein References for TGM3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for TGM3 Gene

Gene Families for TGM3 Gene

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

Suggested Antigen Peptide Sequences for TGM3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q08188

UniProtKB/Swiss-Prot:

TGM3_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 TGM3: view

Function for TGM3 Gene

Molecular function for TGM3 Gene

GENATLAS Biochemistry:
transglutaminase,E polypeptide,cytoplasmic,soluble,type III (77kDa) (terminally differentiating epidermal and hair follicle keratinocytes)
UniProtKB/Swiss-Prot CatalyticActivity:
A protein-L-glutamine + a protein-L-lysine = a protein with an N(6)-(gamma-glutamyl)-L-lysine cross-link + NH(3).
UniProtKB/Swiss-Prot Function:
Catalyzes the calcium-dependent formation of isopeptide cross-links between glutamine and lysine residues in various proteins, as well as the conjugation of polyamines to proteins. Involved in the formation of the cornified envelope (CE), a specialized component consisting of covalent cross-links of proteins beneath the plasma membrane of terminally differentiated keratinocytes. Catalyzes small proline-rich proteins (SPRR1 and SPRR2) and LOR cross-linking to form small interchain oligomers, which are further cross-linked by TGM1 onto the growing CE scaffold (By similarity). In hair follicles, involved in cross-linking structural proteins to hardening the inner root sheath.

Enzyme Numbers (IUBMB) for TGM3 Gene

Phenotypes From GWAS Catalog for TGM3 Gene

Gene Ontology (GO) - Molecular Function for TGM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003810 protein-glutamine gamma-glutamyltransferase activity IDA 8099584
GO:0003824 catalytic activity IDA 8099584
GO:0005509 calcium ion binding IDA 12679341
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups TAS 15193648
genes like me logo Genes that share ontologies with TGM3: view
genes like me logo Genes that share phenotypes with TGM3: view

Human Phenotype Ontology for TGM3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TGM3 Gene

MGI Knock Outs for TGM3:

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for TGM3 Gene

Localization for TGM3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TGM3 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 TGM3 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 3
cytoskeleton 1
peroxisome 1
nucleus 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TGM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 12850301
GO:0031234 extrinsic component of cytoplasmic side of plasma membrane IDA 5038456
GO:0070062 extracellular exosome HDA,IDA 19199708
genes like me logo Genes that share ontologies with TGM3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TGM3 Gene

Pathways & Interactions for TGM3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TGM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006464 cellular protein modification process NAS 8099584
GO:0018149 peptide cross-linking IDA 24643
GO:0030216 keratinocyte differentiation TAS 24643
GO:0031069 hair follicle morphogenesis TAS 15193648
GO:0031424 keratinization IEA --
genes like me logo Genes that share ontologies with TGM3: view

No data available for Pathways by source and SIGNOR curated interactions for TGM3 Gene

Drugs & Compounds for TGM3 Gene

(9) Drugs for TGM3 Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Glutamine Approved, Investigational Nutra Full agonist, Agonist, Enzyme, substrate 0
calcium Approved Nutra 0
Ammonia Approved Pharma 0
Guanosine monophosphate Experimental Pharma Target 0
5'-Guanosine-Diphosphate-Monothiophosphate Experimental Pharma Target 0

(3) Additional Compounds for TGM3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for TGM3 Gene

Compound Action Cas Number
Cystamine dihydrochloride 56-17-7
genes like me logo Genes that share compounds with TGM3: view

Drug Products

Transcripts for TGM3 Gene

mRNA/cDNA for TGM3 Gene

Unigene Clusters for TGM3 Gene

Transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TGM3 Gene

No ASD Table

Relevant External Links for TGM3 Gene

GeneLoc Exon Structure for
TGM3
ECgene alternative splicing isoforms for
TGM3

Expression for TGM3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TGM3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TGM3 Gene

This gene is overexpressed in Esophagus - Mucosa (x43.6).

Protein differential expression in normal tissues from HIPED for TGM3 Gene

This gene is overexpressed in Saliva (34.4) and Esophagus (14.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TGM3 Gene



Protein tissue co-expression partners for TGM3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TGM3 Gene:

TGM3

SOURCE GeneReport for Unigene cluster for TGM3 Gene:

Hs.2022

Evidence on tissue expression from TISSUES for TGM3 Gene

  • Skin(2.6)
  • Intestine(2)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with TGM3: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TGM3 Gene

Orthologs for TGM3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TGM3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TGM3 34 33
  • 99.04 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TGM3 33 34
  • 82.99 (n)
dog
(Canis familiaris)
Mammalia TGM3 33 34
  • 82.64 (n)
mouse
(Mus musculus)
Mammalia Tgm3 34 16 33
  • 80.23 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tgm3 33
  • 79.94 (n)
oppossum
(Monodelphis domestica)
Mammalia TGM3 34
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TGM3 34
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves TGM3 34 33
  • 60.32 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 53 (a)
OneToMany
-- 34
  • 52 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tgm6 33
  • 51.81 (n)
zebrafish
(Danio rerio)
Actinopterygii tgm8 34
  • 38 (a)
OneToMany
Species where no ortholog for TGM3 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 TGM3 Gene

ENSEMBL:
Gene Tree for TGM3 (if available)
TreeFam:
Gene Tree for TGM3 (if available)

Paralogs for TGM3 Gene

Paralogs for TGM3 Gene

(8) SIMAP similar genes for TGM3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with TGM3: view

Variants for TGM3 Gene

Sequence variations from dbSNP and Humsavar for TGM3 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs779702016 pathogenic, Uncombable hair syndrome 2 2,332,019(+) C/G/T coding_sequence_variant, missense_variant, stop_gained
rs1000009856 -- 2,329,637(+) A/T intron_variant
rs1000018224 -- 2,302,622(+) C/T intron_variant
rs1000094939 -- 2,325,163(+) C/G intron_variant
rs1000164159 -- 2,334,484(+) G/A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TGM3 Gene

Variant ID Type Subtype PubMed ID
esv2758778 CNV gain 17122850
esv34630 CNV gain 17911159
esv3644998 CNV gain 21293372
esv3645006 CNV gain 21293372
nsv458850 CNV gain 19166990
nsv470535 CNV gain 18288195
nsv585262 CNV gain 21841781
nsv585263 CNV gain 21841781
nsv585264 CNV loss 21841781
nsv817881 CNV gain 17921354
nsv828671 CNV gain 20364138
nsv9781 CNV gain+loss 18304495

Variation tolerance for TGM3 Gene

Residual Variation Intolerance Score: 86.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.27; 81.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TGM3 Gene

Human Gene Mutation Database (HGMD)
TGM3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TGM3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TGM3 Gene

Disorders for TGM3 Gene

MalaCards: The human disease database

(10) MalaCards diseases for TGM3 Gene - From: HGMD, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search TGM3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TGM3_HUMAN
  • Uncombable hair syndrome 2 (UHS2) [MIM:617251]: A form of uncombable hair syndrome, a condition characterized by scalp hair that is impossible to comb due to the haphazard arrangement of the hair bundles. A characteristic morphologic feature is a triangular to reniform to heart shape on cross-sections, and a groove, canal or flattening along the entire length of the hair. Most individuals are affected early in childhood and the hair takes on a spun-glass appearance with the hair becoming dry, curly, glossy, lighter in color, and progressively uncombable. The hair growth rate can range from slow to normal, and the condition improves with age. {ECO:0000269 PubMed:27866708}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TGM3

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 TGM3: view

No data available for Genatlas for TGM3 Gene

Publications for TGM3 Gene

  1. Assignment of the human transglutaminase 2 (TGM2) and transglutaminase 3 (TGM3) genes to chromosome 20q11.2. (PMID: 7851911) Wang M … McBride OW (Genomics 1994) 2 3 22 58
  2. The deduced sequence of the novel protransglutaminase E (TGase3) of human and mouse. (PMID: 8099584) Kim IG … Steinert PM (The Journal of biological chemistry 1993) 3 4 22 58
  3. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome. (PMID: 27866708) Ü Basmanav FB … Betz RC (American journal of human genetics 2016) 3 4 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Colocalization of cystatin M/E and its target proteases suggests a role in terminal differentiation of human hair follicle and nail. (PMID: 19005484) Cheng T … Zeeuwen PL (The Journal of investigative dermatology 2009) 3 22 58

Products for TGM3 Gene

Sources for TGM3 Gene

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