Transglutaminases (TGM; EC 2.3.2.13) are a family of structurally and functionally related enzymes that stabilize protein assemblies through the formation of gamma-glutamyl-epsilon lysine crosslinks. For additional background information on transglutaminases, see TGM1 (MIM 190195).[supplied by OMIM, Jul 2002] See more...

Aliases for TGM7 Gene

Aliases for TGM7 Gene

  • Transglutaminase 7 2 3 5
  • Transglutaminase Z 2 3 4
  • Protein-Glutamine Gamma-Glutamyltransferase Z 3 4
  • EC 2.3.2.13 4 52
  • TGase Z 3 4
  • TGase-7 3 4
  • TG(Z) 3 4
  • TGZ 3 4
  • Transglutaminase-7 4
  • TGMZ 3

External Ids for TGM7 Gene

Previous GeneCards Identifiers for TGM7 Gene

  • GC15M038936
  • GC15M036464
  • GC15M041147
  • GC15M041284
  • GC15M041355
  • GC15M043568
  • GC15M020417

Summaries for TGM7 Gene

Entrez Gene Summary for TGM7 Gene

  • Transglutaminases (TGM; EC 2.3.2.13) are a family of structurally and functionally related enzymes that stabilize protein assemblies through the formation of gamma-glutamyl-epsilon lysine crosslinks. For additional background information on transglutaminases, see TGM1 (MIM 190195).[supplied by OMIM, Jul 2002]

GeneCards Summary for TGM7 Gene

TGM7 (Transglutaminase 7) is a Protein Coding gene. Diseases associated with TGM7 include Autosomal Recessive Congenital Ichthyosis. Gene Ontology (GO) annotations related to this gene include protein-glutamine gamma-glutamyltransferase activity. An important paralog of this gene is TGM5.

UniProtKB/Swiss-Prot Summary for TGM7 Gene

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

Additional gene information for TGM7 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TGM7 Gene

Genomics for TGM7 Gene

GeneHancer (GH) Regulatory Elements for TGM7 Gene

Promoters and enhancers for TGM7 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
GH15J043368 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 27.4 -68.4 -68446 3.8 ZBTB40 CTCF SIN3A TCF12 NRF1 USF1 POLR2G GTF2E2 PHF8 ZFX ZSCAN29 5EW4_A-015 TUBGCP4 lnc-TP53BP1-4 ADAL TGM7 CDAN1 LCMT2 HYPK WDR76
GH15J043491 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 23.7 -191.0 -190978 3.2 ZBTB40 EP300 SIN3A POLR2G SP1 PHF8 ZNF10 ZIC2 ZBTB10 ZBTB11 TP53BP1 lnc-PPIP5K1-3 ZSCAN29 ADAL TGM7 UBR1 CTDSPL2 TUBGCP4 MFAP1 lnc-TP53BP1-2
GH15J043440 Enhancer 1.1 Ensembl ENCODE 26.3 -139.0 -138985 2.3 CTCF JUND FOS ZNF639 REST RFX1 MYC RAD21 EP300 CTBP1 RF00017-1769 ADAL MAP1A TGM7 TP53BP1 lnc-ZSCAN29-1
GH15J043505 Enhancer 1 Ensembl ENCODE CraniofacialAtlas dbSUPER 25.1 -203.9 -203893 1.7 ZNF316 NFE2 MAFK MAFG MAFF ZNF660 NFE2L2 NFYB EMSY ADAL TGM7 TP53BP1 lnc-TP53BP1-2 lnc-PPIP5K1-3
GH15J043410 Enhancer 0.9 Ensembl ENCODE 23.4 -108.6 -108646 1.4 NCOR1 ZNF316 ARNT CEBPG ZNF592 NFE2 FOSL1 E2F6 TAL1 MNT TGM7 ZSCAN29 TUBGCP4 LM611511-007 piR-54109 TP53BP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TGM7 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TGM7

Top Transcription factor binding sites by QIAGEN in the TGM7 gene promoter:
  • AML1a
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • NF-kappaB
  • NF-kappaB1
  • RelA

Genomic Locations for TGM7 Gene

Genomic Locations for TGM7 Gene
chr15:43,276,271-43,302,255
(GRCh38/hg38)
Size:
25,985 bases
Orientation:
Minus strand
chr15:43,568,478-43,594,453
(GRCh37/hg19)
Size:
25,976 bases
Orientation:
Minus strand

Genomic View for TGM7 Gene

Genes around TGM7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TGM7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TGM7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TGM7 Gene

Proteins for TGM7 Gene

  • Protein details for TGM7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PF1-TGM7_HUMAN
    Recommended name:
    Protein-glutamine gamma-glutamyltransferase Z
    Protein Accession:
    Q96PF1

    Protein attributes for TGM7 Gene

    Size:
    710 amino acids
    Molecular mass:
    79941 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available

neXtProt entry for TGM7 Gene

Selected DME Specific Peptides for TGM7 Gene

Q96PF1:
  • YKYPEGS
  • PEGSPEER
  • YGQCWVFA

Post-translational modifications for TGM7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TGM7 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for TGM7 Gene

Gene Families for TGM7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for TGM7 Gene

GenScript: Design optimal peptide antigens:
  • Transglutaminase-7 (TGM7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96PF1

UniProtKB/Swiss-Prot:

TGM7_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 TGM7: view

Function for TGM7 Gene

Molecular function for TGM7 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 TGM7 Gene

Phenotypes From GWAS Catalog for TGM7 Gene

Gene Ontology (GO) - Molecular Function for TGM7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003810 protein-glutamine gamma-glutamyltransferase activity IBA 21873635
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 TGM7: view
genes like me logo Genes that share phenotypes with TGM7: view

miRNA for TGM7 Gene

miRTarBase miRNAs that target TGM7

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TGM7 Gene

Localization for TGM7 Gene

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 TGM7 gene
Compartment Confidence
cytosol 3
nucleus 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for TGM7 Gene

Pathways & Interactions for TGM7 Gene

PathCards logo

SuperPathways for TGM7 Gene

No Data Available

Interacting Proteins for TGM7 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 7)
STRING Interaction Network
Selected Interacting proteins: ENSP00000389466 Q96PF1-TGM7_HUMAN for TGM7 Gene via STRING IID

;

Gene Ontology (GO) - Biological Process for TGM7 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 TGM7: view

No data available for Pathways by source and SIGNOR curated interactions for TGM7 Gene

Drugs & Compounds for TGM7 Gene

(3) Drugs for TGM7 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
Ammonia Approved Pharma 0
Calcium Approved Nutra 7884
genes like me logo Genes that share compounds with TGM7: view

Transcripts for TGM7 Gene

mRNA/cDNA for TGM7 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TGM7 Gene

No ASD Table

Relevant External Links for TGM7 Gene

GeneLoc Exon Structure for
TGM7

Expression for TGM7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TGM7 Gene

mRNA differential expression in normal tissues according to GTEx for TGM7 Gene

This gene is overexpressed in Testis (x19.6), Muscle - Skeletal (x9.8), and Esophagus - Mucosa (x6.2).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TGM7

SOURCE GeneReport for Unigene cluster for TGM7 Gene:

Hs.164661

mRNA Expression by UniProt/SwissProt for TGM7 Gene:

Q96PF1-TGM7_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with TGM7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TGM7 Gene

Orthologs for TGM7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TGM7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TGM7 31 30
  • 99.23 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TGM7 31 30
  • 85.34 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TGM7 31 30
  • 85.26 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tgm7 17 31 30
  • 82.23 (n)
rat
(Rattus norvegicus)
Mammalia LOC102552199 30
  • 82.11 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 66 (a)
OneToMany
-- 31
  • 43 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 31
  • 51 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 35 (a)
ManyToMany
-- 31
  • 34 (a)
ManyToMany
-- 31
  • 33 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii tgm8 31
  • 37 (a)
OneToMany
Species where no ortholog for TGM7 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)
  • oppossum (Monodelphis domestica)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TGM7 Gene

ENSEMBL:
Gene Tree for TGM7 (if available)
TreeFam:
Gene Tree for TGM7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TGM7: view image

Paralogs for TGM7 Gene

Paralogs for TGM7 Gene

(8) SIMAP similar genes for TGM7 Gene using alignment to 2 proteins:

  • TGM7_HUMAN
  • L0R6R2_HUMAN
genes like me logo Genes that share paralogs with TGM7: view

Variants for TGM7 Gene

Additional dbSNP identifiers (rs#s) for TGM7 Gene

Structural Variations from Database of Genomic Variants (DGV) for TGM7 Gene

Variant ID Type Subtype PubMed ID
nsv1138361 CNV deletion 24896259

Variation tolerance for TGM7 Gene

Residual Variation Intolerance Score: 94.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.26; 70.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TGM7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TGM7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TGM7 Gene

Disorders for TGM7 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TGM7 Gene - From: DISEASES

Disorder Aliases PubMed IDs
autosomal recessive congenital ichthyosis
  • arci
- elite association - COSMIC cancer census association via MalaCards
Search TGM7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TGM7

genes like me logo Genes that share disorders with TGM7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TGM7 Gene

Publications for TGM7 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 54
  2. Phage-displayed peptide library screening for preferred human substrate peptide sequences for transglutaminase 7. (PMID: 23876241) Kuramoto K … Hitomi K (Archives of biochemistry and biophysics 2013) 3 54
  3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54
  4. Expression of breast cancer specific gene-1 (BCSG-1/gamma-synuclein) is associated with tumour grade but not with clinical outcome of patients with breast cancer. (PMID: 16786148) Martin TA … Jiang WG (Oncology reports 2006) 23 54
  5. A plasminogen-like protein, present in the apical extracellular environment of thyroid epithelial cells, degrades thyroglobulin in vitro. (PMID: 16259961) Giraud A … Mallet B (Biochemical and biophysical research communications 2005) 23 54

Products for TGM7 Gene

Sources for TGM7 Gene