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Aliases for TGM5 Gene

Aliases for TGM5 Gene

  • Transglutaminase 5 2 3 5
  • Transglutaminase X 3 4
  • EC 2.3.2.13 4 61
  • 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 1. Among its related pathways are Keratinization and Developmental Biology. 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.

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

Regulatory Elements for TGM5 Gene

Enhancers for TGM5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G043230 0.9 ENCODE 12.4 +36.3 36296 1.0 HDAC1 HDGF CBX3 TBL1XR1 TCF12 ZNF766 GATA2 ETV6 CREM SMARCA5 CCNDBP1 TGM5 TGM7 EPB42 ENSG00000202211
GH15G043225 0.8 ENCODE 12.1 +41.4 41386 0.2 HDAC1 SIN3A RAD21 CHAMP1 ZNF335 ZNF143 CREM EGR2 SMARCA5 ZNF654 TGM5 CCNDBP1 TGM7 EPB42 ENSG00000261687
GH15G043238 0.6 ENCODE 11.8 +28.4 28416 0.7 IKZF1 ZBTB33 ZNF394 DPF2 IKZF2 ATF2 EGR2 CCNDBP1 TGM5 ENSG00000202211 EPB42
GH15G043248 1.2 Ensembl ENCODE 0.4 +17.3 17307 1.5 HDGF TBP PKNOX1 ATF1 TBL1XR1 ZSCAN4 BMI1 ZNF143 RELB ETV6 ZSCAN29 CCNDBP1 CATSPER2 ENSG00000202211 TGM5
GH15G043253 0.9 ENCODE 0.4 +13.0 13012 1.1 HDGF TBP PKNOX1 TBL1XR1 NFIB WRNIP1 SIN3A ELK1 RELB IKZF2 ZSCAN29 ENSG00000202211 TGM5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TGM5 on UCSC Golden Path with GeneCards custom track

Genomic Location for TGM5 Gene

Chromosome:
15
Start:
43,232,595 bp from pter
End:
43,267,023 bp from pter
Size:
34,429 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

Other Protein References for TGM5 Gene

Domains & Families for TGM5 Gene

Gene Families for TGM5 Gene

Suggested Antigen Peptide Sequences for TGM5 Gene

GenScript: Design optimal peptide antigens:

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 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. 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

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 Model Products

miRNA for TGM5 Gene

miRTarBase miRNAs that target TGM5

Inhibitory RNA Products

Clone Products

No data available for Animal Models , 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
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

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

(2) 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 Nutra 0

(2) Additional Compounds for TGM5 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Ammonia
  • Ammonia anhydrous
  • Ammonia inhalant
  • Ammonia solution strong [usan]
  • Ammonia water
  • Ammoniak
7664-41-7
genes like me logo Genes that share compounds with TGM5: view

Transcripts for TGM5 Gene

mRNA/cDNA for TGM5 Gene

Unigene Clusters for TGM5 Gene

Transglutaminase 5:
Representative Sequences:

Inhibitory RNA Products

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
TGM5
ECgene alternative splicing isoforms for
TGM5

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:

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(2.4)
  • Liver(2)
  • Pancreas(2)

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

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

Primer Products

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 34 35
  • 99.26 (n)
cow
(Bos Taurus)
Mammalia TGM5 34 35
  • 87.81 (n)
dog
(Canis familiaris)
Mammalia TGM5 34 35
  • 87.18 (n)
rat
(Rattus norvegicus)
Mammalia LOC691932 34
  • 84.15 (n)
mouse
(Mus musculus)
Mammalia Tgm5 34 16 35
  • 83.89 (n)
oppossum
(Monodelphis domestica)
Mammalia TGM5 35
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 31 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 35
  • 36 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 40 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tgm5 34
  • 58.45 (n)
zebrafish
(Danio rerio)
Actinopterygii tgm8 35
  • 38 (a)
OneToMany
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

ENSEMBL:
Gene Tree for TGM5 (if available)
TreeFam:
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 Sequence Context AA Info Type
rs112292549 Pathogenic, Peeling skin syndrome 2 (PSS2) [MIM:609796] 43,260,151(+) CCGAC(A/C)CACGG intron-variant, reference, missense
rs115677373 Pathogenic 43,252,858(+) CGTCC(A/G)CTCCG reference, missense
rs143601447 Pathogenic 43,260,468(+) GGGTG(A/G)GGTTG reference, missense
rs606231276 Pathogenic 43,238,827(-) TACAA(C/G)TATGA reference, missense
rs606231277 Pathogenic 43,253,550(-) GTGCT(-/C)TGCGG reference, frameshift-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)

Relevant External Links for TGM5 Gene

Human Gene Mutation Database (HGMD)
TGM5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TGM5

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

(6) MalaCards diseases for TGM5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
peeling skin syndrome 2
  • acral peeling skin syndrome
peeling skin syndrome 1
  • peeling skin syndrome
peeling skin syndrome
  • deciduous skin
pompholyx
  • cheiropompholyx
epidermolysis bullosa simplex
  • epidermolysis bullosa intraepidermic
- 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 mutations affecting the gene represented in this entry.

Relevant External Links for TGM5

Genetic Association Database (GAD)
TGM5
Human Genome Epidemiology (HuGE) Navigator
TGM5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TGM5
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. (J. Biol. Chem. 2001) 2 3 4 22 64
  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 D.F. (J. Biol. Chem. 1998) 2 3 4 22 64
  3. A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. (PMID: 16380904) Cassidy A.J. … McLean W.H.I. (Am. J. Hum. Genet. 2005) 3 4 22 64
  4. Transglutaminase 5 is acetylated at the N-terminal end. (PMID: 15290349) Rufini A. … Candi E. (Amino Acids 2004) 3 4 22 64
  5. Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study. (PMID: 19654303) Broderick P. … Houlston R.S. (Cancer Res. 2009) 3 46 64

Products for TGM5 Gene

Sources for TGM5 Gene

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