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] See more...

Aliases for TGM5 Gene

Aliases for TGM5 Gene

  • Transglutaminase 5 2 3 5
  • Protein-Glutamine Gamma-Glutamyltransferase 5 2 3 4
  • TGMX 2 3 4
  • TGX 2 3 4
  • Transglutaminase X 3 4
  • EC 2.3.2.13 4 51
  • TGase X 3 4
  • TGase-5 3 4
  • TG(X) 3 4
  • Transglutaminase V 3
  • Transglutaminase-5 4
  • TGASE5 3
  • TGASEX 3
  • PSS2 3
  • TGM6 3
  • TGM5 5

External Ids for TGM5 Gene

Previous GeneCards Identifiers for TGM5 Gene

  • GC15M038893
  • GC15M036421
  • GC15M041104
  • GC15M041241
  • GC15M041312
  • GC15M043527
  • GC15M020373
  • GC15M043234

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 1. Among its related pathways are Developmental Biology and Keratinization. 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 Summary 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.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TGM5 Gene

Genomics for TGM5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TGM5 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
GH15J043266 Promoter/Enhancer 0.7 EPDnew Ensembl 250.7 -0.1 -73 0.8 CEBPB EGR2 ZFHX2 ATP5PDP1 TGM5 TGM7 ZSCAN29 HSALNG0105480
GH15J043230 Enhancer 1 Ensembl ENCODE 12.5 +36.2 36169 1 IKZF1 VEZF1 NBN GABPA TAL1 ZFP91 ZNF316 ADNP PRDM10 NFE2 CCNDBP1 TGM5 TGM7 EPB42 piR-50129-084 HSALNG0105480
GH15J043270 Enhancer 0.9 Ensembl ENCODE 14 -4.3 -4327 6.9 CTCF GABPA REST TRIM22 SMC3 RAD21 SPI1 POLR2A MYC MAX piR-31534-224 ADAL ZSCAN29 TGM7 TGM5 ATP5PDP1
GH15J043225 Enhancer 0.9 Ensembl ENCODE 12.1 +41.4 41427 1 CTCF REST TRIM22 SMC3 RAD21 SMARCA5 EHMT2 ZNF24 ZBTB33 RB1 EPB42 lnc-EPB42-5 piR-33422-149 piR-50129-084 TGM7 TGM5 CCNDBP1 RF00017-1766
GH15J043204 Enhancer 0.7 Ensembl 11.2 +62.7 62727 0.4 ZBTB10 IKZF1 BHLHE40 CTCF ARNT REST VEZF1 TRIM22 SMC3 RAD21 TGM5 TGM7 UBR1 ENSG00000285117 MN297294 CCNDBP1 EPB42
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TGM5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TGM5

Top Transcription factor binding sites by QIAGEN in the TGM5 gene promoter:
  • AML1a
  • C/EBPalpha
  • FAC1
  • HOXA5
  • HOXA9
  • HOXA9B
  • Ik-3
  • Meis-1
  • Meis-1a
  • Sox9

Genomic Locations for TGM5 Gene

Latest Assembly
chr15:43,232,590-43,266,928
(GRCh38/hg38)
Size:
34,339 bases
Orientation:
Minus strand

Previous Assembly
chr15:43,524,788-43,559,126
(GRCh37/hg19 by Entrez Gene)
Size:
34,339 bases
Orientation:
Minus strand

chr15:43,524,793-43,559,055
(GRCh37/hg19 by Ensembl)
Size:
34,263 bases
Orientation:
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:
    O43548-TGM5_HUMAN
    Recommended name:
    Protein-glutamine gamma-glutamyltransferase 5
    Protein Accession:
    O43548
    Secondary Accessions:
    • O43549
    • Q0VF40
    • Q9UEZ4

    Protein attributes for TGM5 Gene

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

    Alternative splice isoforms for TGM5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TGM5 Gene

Selected DME Specific Peptides for TGM5 Gene

O43548:
  • GFIYQGS
  • YGQCWVFA

Post-translational modifications for TGM5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for TGM5 Gene

Gene Families for TGM5 Gene

HGNC:
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:
  • Transglutaminase 5 (Q0II16_HUMAN)
  • Transglutaminase-5 (TGM5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43548

UniProtKB/Swiss-Prot:

TGM5_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 TGM5: view

Function for TGM5 Gene

Molecular function for TGM5 Gene

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 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={ECO:0000255|PROSITE-ProRule:PRU10024};.
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,IBA 21873635
GO:0005515 protein binding IPI 32296183
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 Tgm5<tm2a(KOMP)Wtsi>

miRNA for TGM5 Gene

miRTarBase miRNAs that target TGM5

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TGM5

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

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 TGM5 gene
Compartment Confidence
plasma membrane 4
cytosol 3
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 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

PathCards logo

SuperPathways for TGM5 Gene

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

Pathways by source 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 IBA 21873635
GO:0018215 protein phosphopantetheinylation 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 Enzyme, substrate 0
Ammonia Approved Pharma 0
Calcium Nutra 6876

(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

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TGM5

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
TGM5

Expression for TGM5 Gene

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



Protein tissue co-expression partners for TGM5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TGM5

SOURCE GeneReport for Unigene cluster for TGM5 Gene:

Hs.129719

mRNA Expression by UniProt/SwissProt for TGM5 Gene:

O43548-TGM5_HUMAN
Tissue specificity: Expressed in foreskin keratinocytes.

Evidence on tissue expression from TISSUES for TGM5 Gene

  • Skin(2.5)
  • Liver(2.3)
  • Pancreas(2)

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

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

Primer products for research

Orthologs for TGM5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TGM5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TGM5 30 31
  • 99.26 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TGM5 30 31
  • 87.81 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TGM5 30 31
  • 87.18 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC691932 30
  • 84.15 (n)
Mouse
(Mus musculus)
Mammalia Tgm5 30 17 31
  • 83.89 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TGM5 31
  • 72 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 31 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves -- 31
  • 36 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 40 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tgm5 30
  • 58.45 (n)
Zebrafish
(Danio rerio)
Actinopterygii tgm8 31
  • 38 (a)
OneToMany
Species where no ortholog for TGM5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for TGM5 (if available)
TreeFam:
Gene Tree for TGM5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TGM5: view image

Paralogs for TGM5 Gene

Paralogs for TGM5 Gene

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

  • TGM5_HUMAN
  • Q0II16_HUMAN
genes like me logo Genes that share paralogs with TGM5: view

Variants for TGM5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TGM5 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
884497 Uncertain Significance: Peeling skin syndrome 2 43,235,631(-) T/C
NM_201631.4(TGM5):c.1552A>G (p.Asn518Asp)
MISSENSE
884498 Uncertain Significance: Peeling skin syndrome 2 43,238,923(-) C/T
NM_201631.4(TGM5):c.1239G>A (p.Glu413=)
SYNONYMOUS
884559 Uncertain Significance: Peeling skin syndrome 2 43,260,230(-) G/C
NM_201631.4(TGM5):c.258C>G (p.Ser86Arg)
MISSENSE_VARIANT,INTRON
885432 Uncertain Significance: Peeling skin syndrome 2 43,239,065(-) G/C
NM_201631.4(TGM5):c.1106-9C>G
INTRON
885433 Uncertain Significance: Peeling skin syndrome 2 43,239,188(-) G/A
NM_201631.4(TGM5):c.1080C>T (p.Asp360=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TGM5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)
TGM5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TGM5

SNP Genotyping and Copy Number Assays for research

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

(13) MalaCards diseases for TGM5 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
peeling skin syndrome 2
  • pss2
peeling skin syndrome 1
  • pss1
generalized peeling skin syndrome
  • generalized deciduous skin
peeling skin syndrome
  • skin peeling syndrome
spinocerebellar ataxia 35
  • sca35
- elite association - COSMIC cancer census association via MalaCards
Search TGM5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TGM5_HUMAN
  • 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 variants affecting the gene represented in this entry.

Additional Disease Information for TGM5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 23
  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 23
  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 23
  4. Transglutaminase 5 is acetylated at the N-terminal end. (PMID: 15290349) Rufini A … Candi E (Amino acids 2004) 3 4 23
  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 41

Products for TGM5 Gene

Sources for TGM5 Gene