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Aliases for TGM5 Gene

Aliases for TGM5 Gene

  • Transglutaminase 5 2 3 5
  • Transglutaminase X 3 4
  • EC 4 56
  • TGase X 3 4
  • TGase-5 3 4
  • TG(X) 3 4
  • TGMX 3 4
  • TGX 3 4
  • Protein-Glutamine Gamma-Glutamyltransferase 5 3
  • Transglutaminase V 3
  • Transglutaminase-5 4
  • TGASE5 3
  • TGASEX 3
  • PSS2 3
  • TGM6 3

External Ids for TGM5 Gene

Previous GeneCards Identifiers for TGM5 Gene

  • GC15M038893
  • GC15M036421
  • GC15M041104
  • GC15M041241
  • GC15M041312
  • GC15M043527
  • GC15M020373

Summaries for TGM5 Gene

Entrez Gene Summary for TGM5 Gene

  • This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mutations in this gene have been associated with acral peeling skin syndrome. [provided by RefSeq, Oct 2009]

GeneCards Summary for TGM5 Gene

TGM5 (Transglutaminase 5) is a Protein Coding gene. Diseases associated with TGM5 include Peeling Skin Syndrome 2 and Peeling Skin Syndrome. Among its related pathways are Keratinization and Developmental Biology. Gene Ontology (GO) annotations related to this gene include protein-glutamine gamma-glutamyltransferase activity. An important paralog of this gene is TGM7.

UniProtKB/Swiss-Prot for TGM5 Gene

  • Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Contributes to the formation of the cornified cell envelope of keratinocytes.

Additional gene information for TGM5 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TGM5 Gene

Genomics for TGM5 Gene

GeneHancer (GH) Regulatory Elements for TGM5 Gene

Promoters and enhancers for TGM5 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15I043266 Promoter 0.7 EPDnew 550.8 +0.1 75 0.1 ZFHX2 EGR2 ATP5PDP1 TGM5 ENSG00000202211
GH15I043230 Enhancer 0.9 ENCODE 12.5 +36.3 36295 1 HDGF TCF12 ZNF766 GATA2 ATF7 NCOA1 ZNF592 ATF4 GMEB1 SMARCA4 CCNDBP1 TGM5 TGM7 EPB42 ENSG00000202211
GH15I043225 Enhancer 0.7 ENCODE 12.1 +41.4 41385 0.2 CTCF RB1 RAD21 CHAMP1 CC2D1A MTA3 ARID2 ZNF143 SMC3 ZSCAN29 EPB42 TGM5 CCNDBP1 TGM7 ENSG00000261687
GH15I043238 Enhancer 0.6 ENCODE 11.8 +28.4 28415 0.7 ZNF687 IKZF1 CREB1 ZBTB33 DPF2 IKZF2 ATF2 EGR2 CCNDBP1 TGM5 ENSG00000202211 EPB42
GH15I043248 Enhancer 1 Ensembl ENCODE 0.4 +17.3 17307 1.5 HDGF PKNOX1 ATF1 BMI1 BATF KLF5 IRF4 ZNF143 ETV6 ATF7 ZSCAN29 CCNDBP1 CATSPER2 ENSG00000202211 TGM5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TGM5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TGM5 gene promoter:

Genomic Locations for TGM5 Gene

Genomic Locations for TGM5 Gene
34,429 bases
Minus strand

Genomic View for TGM5 Gene

Genes around TGM5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TGM5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TGM5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TGM5 Gene

Proteins for TGM5 Gene

  • Protein details for TGM5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein-glutamine gamma-glutamyltransferase 5
    Protein Accession:
    Secondary Accessions:
    • O43549
    • Q0VF40
    • Q9UEZ4

    Protein attributes for TGM5 Gene

    720 amino acids
    Molecular mass:
    80778 Da
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TGM5 Gene


neXtProt entry for TGM5 Gene

Selected DME Specific Peptides for TGM5 Gene


Post-translational modifications for TGM5 Gene

No Post-translational modifications

Other Protein References for TGM5 Gene

Domains & Families for TGM5 Gene

Gene Families for TGM5 Gene

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

Suggested Antigen Peptide Sequences for TGM5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the transglutaminase superfamily. Transglutaminase family.
  • Belongs to the transglutaminase superfamily. Transglutaminase family.
genes like me logo Genes that share domains with TGM5: view

Function for TGM5 Gene

Molecular function for TGM5 Gene

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 cross-linking of proteins and the conjugation of polyamines to proteins. Contributes to the formation of the cornified cell envelope of keratinocytes.
UniProtKB/Swiss-Prot Induction:
By 12-O-tetradecanoylphorbol-13-acetate (TPA) and calcium in NHEK cells.

Enzyme Numbers (IUBMB) for TGM5 Gene

Phenotypes From GWAS Catalog for TGM5 Gene

Gene Ontology (GO) - Molecular Function for TGM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003810 protein-glutamine gamma-glutamyltransferase activity TAS --
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 TGM5: view
genes like me logo Genes that share phenotypes with TGM5: view

Human Phenotype Ontology for TGM5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TGM5 Gene

MGI Knock Outs for TGM5:
  • Tgm5 tm2a(KOMP)Wtsi

miRNA for TGM5 Gene

miRTarBase miRNAs that target TGM5

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for TGM5 Gene

Localization for TGM5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TGM5 Gene

Cytoplasm. Note=Associated with intermediate filaments.

Subcellular locations from

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 TGM5 gene
Compartment Confidence
plasma membrane 5
cytosol 3
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TGM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with TGM5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TGM5 Gene

Pathways & Interactions for TGM5 Gene

genes like me logo Genes that share pathways with TGM5: view

Pathways by source for TGM5 Gene

Interacting Proteins for TGM5 Gene

Gene Ontology (GO) - Biological Process for TGM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006464 cellular protein modification process TAS 9452468
GO:0008544 epidermis development TAS 9452468
GO:0018149 peptide cross-linking IEA --
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with TGM5: view

No data available for SIGNOR curated interactions for TGM5 Gene

Drugs & Compounds for TGM5 Gene

(3) Drugs for TGM5 Gene - From: DrugBank, 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

(1) Additional Compounds for TGM5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TGM5: view

Transcripts for TGM5 Gene

mRNA/cDNA for TGM5 Gene

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

Unigene Clusters for TGM5 Gene

Transglutaminase 5:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TGM5 Gene

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

Relevant External Links for TGM5 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TGM5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TGM5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TGM5 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x18.2), Skin - Not Sun Exposed (Suprapubic) (x15.8), and Esophagus - Mucosa (x5.1).

Protein differential expression in normal tissues from HIPED for TGM5 Gene

This gene is overexpressed in Liver (59.0) and Esophagus (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TGM5 Gene

Protein tissue co-expression partners for TGM5 Gene

NURSA nuclear receptor signaling pathways regulating expression of TGM5 Gene:


SOURCE GeneReport for Unigene cluster for TGM5 Gene:


mRNA Expression by UniProt/SwissProt for TGM5 Gene:

Tissue specificity: Expressed in foreskin keratinocytes.

Evidence on tissue expression from TISSUES for TGM5 Gene

  • Skin(2.4)
  • Liver(2)
  • Pancreas(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TGM5 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • cardiovascular
  • immune
  • integumentary
  • skin
genes like me logo Genes that share expression patterns with TGM5: view

Orthologs for TGM5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TGM5 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TGM5 33 34
  • 99.26 (n)
(Bos Taurus)
Mammalia TGM5 33 34
  • 87.81 (n)
(Canis familiaris)
Mammalia TGM5 33 34
  • 87.18 (n)
(Rattus norvegicus)
Mammalia LOC691932 33
  • 84.15 (n)
(Mus musculus)
Mammalia Tgm5 33 16 34
  • 83.89 (n)
(Monodelphis domestica)
Mammalia TGM5 34
  • 72 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 31 (a)
(Gallus gallus)
Aves -- 34
  • 36 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 40 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tgm5 33
  • 58.45 (n)
(Danio rerio)
Actinopterygii tgm8 34
  • 38 (a)
Species where no ortholog for TGM5 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 TGM5 Gene

Gene Tree for TGM5 (if available)
Gene Tree for TGM5 (if available)

Paralogs for TGM5 Gene

Paralogs for TGM5 Gene

(8) SIMAP similar genes for TGM5 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with TGM5: view

Variants for TGM5 Gene

Sequence variations from dbSNP and Humsavar for TGM5 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs112292549 pathogenic, Peeling skin syndrome, acral type, not provided, Peeling skin syndrome, Peeling skin syndrome 2 (PSS2) [MIM:609796] 43,260,151(-) C/A coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant
rs113249183 likely-benign, Peeling skin syndrome 43,239,063(-) G/A intron_variant
rs113296343 likely-benign, Peeling skin syndrome 43,266,829(-) G/A genic_upstream_transcript_variant, intron_variant
rs113463533 benign, likely-benign, Peeling skin syndrome, acral type, Peeling skin syndrome 43,260,162(-) G/A coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant
rs115677373 pathogenic, Peeling skin syndrome, acral type 43,252,858(-) A/G coding_sequence_variant, genic_upstream_transcript_variant, missense_variant

Variation tolerance for TGM5 Gene

Residual Variation Intolerance Score: 76.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.69; 86.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TGM5 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TGM5 Gene

Disorders for TGM5 Gene

MalaCards: The human disease database

(5) MalaCards diseases for TGM5 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
peeling skin syndrome 2
  • pss2
peeling skin syndrome
  • exfoliation syndrome
peeling skin syndrome 1
  • pss1
  • cheiropompholyx
spinocerebellar ataxia 31
  • sca31
- elite association - COSMIC cancer census association via MalaCards
Search TGM5 in MalaCards View complete list of genes associated with diseases


  • Peeling skin syndrome 2 (PSS2) [MIM:609796]: A non-inflammatory and localized form of peeling skin syndrome, a genodermatosis characterized by the continuous shedding of the outer layers of the epidermis. In PSS2 patients, skin peeling is painless and strictly limited to the dorsa of the hands and feet. It is accompanied by painless erythema and spontaneous non-scarring healing. Ultrastructural and histological analysis shows a level of blistering high in the epidermis at the stratum granulosum-stratum corneum junction. {ECO:0000269 PubMed:16380904}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TGM5

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TGM5: view

No data available for Genatlas for TGM5 Gene

Publications for TGM5 Gene

  1. 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 (The Journal of biological chemistry 2001) 2 3 4 22 58
  2. Isolation of a cDNA encoding a novel member of the transglutaminase gene family from human keratinocytes. Detection and identification of transglutaminase gene products based on reverse transcription-polymerase chain reaction with degenerate primers. (PMID: 9452468) Aeschlimann D … Mosher DF (The Journal of biological chemistry 1998) 2 3 4 22 58
  3. A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. (PMID: 16380904) Cassidy AJ … McLean WH (American journal of human genetics 2005) 3 4 22 58
  4. Transglutaminase 5 is acetylated at the N-terminal end. (PMID: 15290349) Rufini A … Candi E (Amino acids 2004) 3 4 22 58
  5. Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study. (PMID: 19654303) Broderick P … Houlston RS (Cancer research 2009) 3 44 58

Products for TGM5 Gene

Sources for TGM5 Gene

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