• Gene id: 7052

Gene Summary

• Gene Symbol: TGM2   Gene   UCSC   Ensembl
• Aliases: TG(C), TGC
• Gene name: transglutaminase 2
• Alternate names: protein-glutamine gamma-glutamyltransferase 2, C polypeptide, protein-glutamine-gamma-glutamyltransferase, TGase C, TGase H, TGase-2, tissue transglutaminase, transglutaminase C, transglutaminase H,
• Gene location: 20q11.23 (38166507: 38127384)     Exons: 14     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 601603

Protein Summary

• Protein general information: P21980  
  • Name: Protein glutamine gamma glutamyltransferase 2 (EC 2.3.2.13) (Tissue transglutaminase) (Transglutaminase C) (TG(C)) (TGC) (TGase C) (Transglutaminase H) (TGase H) (Transglutaminase 2) (TGase 2)
  • Length: 687  
  • Mass: 77329
• Sequence:

  MAEELVLERCDLELETNGRDHHTADLCREKLVVRRGQPFWLTLHFEGRNYEASVDSLTFSVVTGPAPSQEAGTKA
  RFPLRDAVEEGDWTATVVDQQDCTLSLQLTTPANAPIGLYRLSLEASTGYQGSSFVLGHFILLFNAWCPADAVYL
  DSEEERQEYVLTQQGFIYQGSAKFIKNIPWNFGQFEDGILDICLILLDVNPKFLKNAGRDCSRRSSPVYVGRVVS
  GMVNCNDDQGVLLGRWDNNYGDGVSPMSWIGSVDILRRWKNHGCQRVKYGQCWVFAAVACTVLRCLGIPTRVVTN
  YNSAHDQNSNLLIEYFRNEFGEIQGDKSEMIWNFHCWVESWMTRPDLQPGYEGWQALDPTPQEKSEGTYCCGPVP
  VRAIKEGDLSTKYDAPFVFAEVNADVVDWIQQDDGSVHKSINRSLIVGLKISTKSVGRDEREDITHTYKYPEGSS
  EEREAFTRANHLNKLAEKEETGMAMRIRVGQSMNMGSDFDVFAHITNNTAEEYVCRLLLCARTVSYNGILGPECG
  TKYLLNLNLEPFSEKSVPLCILYEKYRDCLTESNLIKVRALLVEPVINSYLLAERDLYLENPEIKIRILGEPKQK
  RKLVAEVSLQNPLPVALEGCTFTVEGAGLTEEQKTVEIPDPVEAGEEVKVRMDLLPLHMGLHKLVVNFESDKLKA
  VKGFRNVIIGPA

• Structural information:
  • Interpro: IPR013783  IPR014756  IPR038765  IPR002931  IPR036985   IPR023608  IPR013808  IPR008958  IPR036238  IPR001102  
  • Prosite: PS00547
  • PDB: 1FAU 1KV3 2Q3Z 3LY6 3S3J 3S3P 3S3S 4PYG 6A8P
  • PDBsum: 1FAU 1KV3 2Q3Z 3LY6 3S3J 3S3P 3S3S 4PYG 6A8P
  • DIP: 33557
  • STRING: ENSP00000355330
• Other Databases: GeneCards:  TGM2  Malacards:  TGM2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031226	intrinsic component of plasma membrane	IMP	cellular component
GO:0031226	intrinsic component of plasma membrane	IDA	cellular component
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	IBA	molecular function
GO:0018149	peptide cross-linking	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0018149	peptide cross-linking	IDA	biological process
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	IEA	molecular function
GO:0018149	peptide cross-linking	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051482	positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway	IEA	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045785	positive regulation of cell adhesion	IEA	biological process
GO:0032471	negative regulation of endoplasmic reticulum calcium ion concentration	IEA	biological process
GO:0050729	positive regulation of inflammatory response	IEA	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IEA	biological process
GO:0018153	isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine	IEA	biological process
GO:0007200	phospholipase C-activating G protein-coupled receptor signaling pathway	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0001974	blood vessel remodeling	IEA	biological process
GO:0060662	salivary gland cavitation	IEA	biological process
GO:0060445	branching involved in salivary gland morphogenesis	IEA	biological process
GO:0051561	positive regulation of mitochondrial calcium ion concentration	IEA	biological process
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	IEA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	colocalizes with
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0043277	apoptotic cell clearance	IDA	biological process
GO:0051561	positive regulation of mitochondrial calcium ion concentration	IMP	biological process
GO:0032471	negative regulation of endoplasmic reticulum calcium ion concentration	IMP	biological process
GO:0005925	focal adhesion	HDA	cellular component
GO:0043065	positive regulation of apoptotic process	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	IMP	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045785	positive regulation of cell adhesion	ISS	biological process
GO:0031226	intrinsic component of plasma membrane	IMP	cellular component
GO:0031226	intrinsic component of plasma membrane	IDA	cellular component
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	IBA	molecular function
GO:0018149	peptide cross-linking	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0018149	peptide cross-linking	IDA	biological process
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	IEA	molecular function
GO:0018149	peptide cross-linking	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051482	positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway	IEA	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045785	positive regulation of cell adhesion	IEA	biological process
GO:0032471	negative regulation of endoplasmic reticulum calcium ion concentration	IEA	biological process
GO:0050729	positive regulation of inflammatory response	IEA	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IEA	biological process
GO:0018153	isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine	IEA	biological process
GO:0007200	phospholipase C-activating G protein-coupled receptor signaling pathway	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0001974	blood vessel remodeling	IEA	biological process
GO:0060662	salivary gland cavitation	IEA	biological process
GO:0060445	branching involved in salivary gland morphogenesis	IEA	biological process
GO:0051561	positive regulation of mitochondrial calcium ion concentration	IEA	biological process
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	IEA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	colocalizes with
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0043277	apoptotic cell clearance	IDA	biological process
GO:0051561	positive regulation of mitochondrial calcium ion concentration	IMP	biological process
GO:0032471	negative regulation of endoplasmic reticulum calcium ion concentration	IMP	biological process
GO:0005925	focal adhesion	HDA	cellular component
GO:0043065	positive regulation of apoptotic process	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	IMP	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045785	positive regulation of cell adhesion	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05016	Huntington disease

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq