TGM2 transglutaminase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TGM2provided by HGNC
Official Full Name: transglutaminase 2provided by HGNC
Primary source: HGNC:HGNC:11778
See related: Ensembl:ENSG00000198959 MIM:190196; AllianceGenome:HGNC:11778
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TGC; tTG; G(h); hTG2; TG(C)
Summary: 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 and their activity is calcium-dependent. The protein encoded by this gene acts as a monomer, is induced by retinoic acid, and appears to be involved in apoptosis. Finally, the encoded protein is the autoantigen implicated in celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Broad expression in placenta (RPKM 177.0), endometrium (RPKM 107.6) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q11.23

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (38127385..38168475, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (39852468..39893578, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (36755787..36794910, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Regulation of AMPK and GAPDH by Transglutaminase 2 Plays a Pivotal Role in Microvascular Leakage in Diabetic Retinas.
Title: Regulation of AMPK and GAPDH by Transglutaminase 2 Plays a Pivotal Role in Microvascular Leakage in Diabetic Retinas.
Distinct conformational states enable transglutaminase 2 to promote cancer cell survival versus cell death.
Title: Distinct conformational states enable transglutaminase 2 to promote cancer cell survival versus cell death.
Structural and mechanistic analysis of Ca[2+]-dependent regulation of transglutaminase 2 activity using a Ca[2+]-bound intermediate state.
Title: Structural and mechanistic analysis of Ca(2+)-dependent regulation of transglutaminase 2 activity using a Ca(2+)-bound intermediate state.
Biological Implications and Functional Significance of Transglutaminase Type 2 in Nervous System Tumors.
Title: Biological Implications and Functional Significance of Transglutaminase Type 2 in Nervous System Tumors.
The Role of Transglutaminase 2 in Cancer: An Update.
Title: The Role of Transglutaminase 2 in Cancer: An Update.
Prognostic significance of RKIP, TGM2, and CMTM4 expression in oral squamous cell carcinoma.
Title: Prognostic significance of RKIP, TGM2, and CMTM4 expression in oral squamous cell carcinoma.
Study of tissue transglutaminase spliced variants expressed in THP-1 derived macrophages exhibiting distinct functional phenotypes.
Title: Study of tissue transglutaminase spliced variants expressed in THP-1 derived macrophages exhibiting distinct functional phenotypes.
Transglutaminase 2 is associated with adverse colorectal cancer survival and represents a therapeutic target.
Title: Transglutaminase 2 is associated with adverse colorectal cancer survival and represents a therapeutic target.
Transglutaminase 2 expression is associated with increased risk of lymph node metastasis and recurrence in papillary thyroid cancer.
Title: Transglutaminase 2 expression is associated with increased risk of lymph node metastasis and recurrence in papillary thyroid cancer.
Expression of transglutaminase 2 in human gut epithelial cells: Implications for coeliac disease.
Title: Expression of transglutaminase 2 in human gut epithelial cells: Implications for coeliac disease.

Submit: New GeneRIF Correction See all GeneRIFs (408)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Cyclosporin (CsA) treatment prevents gp120-dependent induction of apoptosis by blocking the activation of Ca(2+)-dependent effector elements such as transglutaminase (TG) proteins	PubMed
Envelope transmembrane glycoprotein gp41	env	The HIV-1 transmembrane glycoprotein gp41 is an amino acceptor and donor substrate for transglutaminase in vitro; soluble CD4 can block the transglutaminase-catalyzed incorporation of the polyamine spermidine into HIV-1 gp41	PubMed
Rev	rev	tissue transglutaminase has been proposed to interfere with HIV replication through a specific interaction with eukaryotic initiation factor 5A (eIF-5A) that inhibits Rev-mediated nuclear export of viral mRNA	PubMed
Tat	tat	Microarray analysis indicates HIV-1 Tat-induced upregulation of transglutaminase 2 (TGM2) in primary human brain microvascular endothelial cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-20127 (e-PCR)
- UniSTS:67654

SHGC-12855 (e-PCR)
- UniSTS:1896

RH45330 (e-PCR)
- UniSTS:69997

D20S1009 (e-PCR)
- UniSTS:67217

D20S543E (e-PCR)
- UniSTS:72654

TGM2_2385 (e-PCR)
- UniSTS:281055

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	IDA Inferred from Direct Assay more info	PubMed
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables histone dopaminyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables histone serotonyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables peptidase activity	IEA Inferred from Electronic Annotation more info
enables peptide histaminyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables peptide noradrenalinyltransferase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-glutamine gamma-glutamyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein-glutamine gamma-glutamyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein-glutamine gamma-glutamyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein-glutamine gamma-glutamyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein-glutamine glutaminase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic cell clearance	IDA Inferred from Direct Assay more info	PubMed
involved_in bone development	ISS Inferred from Sequence or Structural Similarity more info
involved_in branching involved in salivary gland morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cellular response to cocaine	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to dopamine	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to serotonin	IDA Inferred from Direct Assay more info	PubMed
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
acts_upstream_of_positive_effect dopamine secretion	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_positive_effect gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of endoplasmic reticulum calcium ion concentration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peptide cross-linking	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of GTPase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of mitochondrial calcium ion concentration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neurogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of small GTPase mediated signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of sprouting angiogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in protein deamination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein homooligomerization	IDA Inferred from Direct Assay more info	PubMed
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in regulation of apoptotic cell clearance	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in salivary gland cavitation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in focal adhesion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
part_of nucleosome	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: protein-glutamine gamma-glutamyltransferase 2

Names: C polypeptide, protein-glutamine-gamma-glutamyltransferase; TGase C; TGase H; TGase II; TGase-2; erythrocyte transglutaminase; heart G alpha(h); hhG alpha(h); isopeptidase TGM2; protein G alpha(h); protein-glutamine deamidase TGM2; protein-glutamine dopaminyltransferase TGM2; protein-glutamine histaminyltransferase TGM2; protein-glutamine noradrenalinyltransferase TGM2; protein-glutamine serotonyltransferase TGM2; tTgase; tissue transglutaminase; transglutaminase C; transglutaminase H; transglutaminase II

NP_001310245.1

EC 2.3.2.13

EC 3.5.1.44

NP_001310246.1

EC 2.3.2.13

EC 3.5.1.44

NP_001310247.1

EC 2.3.2.13

EC 3.5.1.44

NP_004604.2

EC 2.3.2.13

EC 3.5.1.44

NP_945189.1

EC 2.3.2.13

EC 3.5.1.44

XP_011527330.1

EC 2.3.2.13

EC 3.5.1.44

XP_047296399.1

EC 2.3.2.13

EC 3.5.1.44

XP_054179933.1

EC 2.3.2.13

EC 3.5.1.44

XP_054179934.1

EC 2.3.2.13

EC 3.5.1.44

XP_054179935.1

EC 2.3.2.13

EC 3.5.1.44

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001323316.2 → NP_001310245.1 protein-glutamine gamma-glutamyltransferase 2 isoform a

Status: REVIEWED

Source sequence(s)

AL031651, BQ011237, DB064707

Consensus CDS

CCDS13302.1

UniProtKB/Swiss-Prot

E1P5V9, P21980, Q16436, Q6B838, Q9BTN7, Q9H035, Q9UH35

UniProtKB/TrEMBL

B4DTN7, V9HWG3

Conserved Domains (3) summary

smart00460
Location:269 → 361

TGc; Transglutaminase/protease-like homologues

pfam00868
Location:5 → 122

Transglut_N; Transglutaminase family

pfam00927
Location:473 → 573

Transglut_C; Transglutaminase family, C-terminal ig like domain
NM_001323317.2 → NP_001310246.1 protein-glutamine gamma-glutamyltransferase 2 isoform c

Status: REVIEWED

Source sequence(s)

AK295775, AL031651, BQ011237

UniProtKB/TrEMBL

B4DIT7, B4DTN7

Conserved Domains (4) summary

smart00460
Location:188 → 280

TGc; Transglutaminase/protease-like homologues

COG1305
Location:190 → 288

YebA; Transglutaminase-like enzyme, putative cysteine protease [Posttranslational modification, protein turnover, chaperones]

pfam00868
Location:6 → 63

Transglut_N; Transglutaminase family

pfam00927
Location:506 → 605

Transglut_C; Transglutaminase family, C-terminal ig like domain
NM_001323318.2 → NP_001310247.1 protein-glutamine gamma-glutamyltransferase 2 isoform d

Status: REVIEWED

Source sequence(s)

AK300292, AL031651, BQ011237, EU794665, HY030430

UniProtKB/TrEMBL

B4DTN7
NM_004613.4 → NP_004604.2 protein-glutamine gamma-glutamyltransferase 2 isoform a

See identical proteins and their annotated locations for NP_004604.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Both variants 1 and 5 encode the same isoform (a).

Source sequence(s)

AK126508, AL031651, BC003551, BQ011237, BQ430537, BQ938957, HY030430

Consensus CDS

CCDS13302.1

UniProtKB/Swiss-Prot

E1P5V9, P21980, Q16436, Q6B838, Q9BTN7, Q9H035, Q9UH35

UniProtKB/TrEMBL

B4DTN7, V9HWG3

Related

ENSP00000355330.2, ENST00000361475.7

Conserved Domains (3) summary

smart00460
Location:269 → 361

TGc; Transglutaminase/protease-like homologues

pfam00868
Location:5 → 122

Transglut_N; Transglutaminase family

pfam00927
Location:473 → 573

Transglut_C; Transglutaminase family, C-terminal ig like domain
NM_198951.3 → NP_945189.1 protein-glutamine gamma-glutamyltransferase 2 isoform b

See identical proteins and their annotated locations for NP_945189.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and coding region compared to variant 1. The resulting isoform (b) is shorter and has a unique C-terminus compared to isoform a.

Source sequence(s)

AA493184, AL031651, BC003551, HY030430

UniProtKB/Swiss-Prot

P21980

Related

ENST00000468262.5

Conserved Domains (3) summary

smart00460
Location:269 → 361

TGc; Transglutaminase/protease-like homologues

pfam00868
Location:4 → 122

Transglut_N; Transglutaminase family

pfam00927
Location:473 → 538

Transglut_C; Transglutaminase family, C-terminal ig like domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

38127385..38168475 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047440443.1 → XP_047296399.1 protein-glutamine gamma-glutamyltransferase 2 isoform X1
XM_011529028.2 → XP_011527330.1 protein-glutamine gamma-glutamyltransferase 2 isoform X2

See identical proteins and their annotated locations for XP_011527330.1

UniProtKB/Swiss-Prot

E1P5V9, P21980, Q16436, Q6B838, Q9BTN7, Q9H035, Q9UH35

UniProtKB/TrEMBL

B4DTN7, V9HWG3

Conserved Domains (3) summary

smart00460
Location:269 → 361

TGc; Transglutaminase/protease-like homologues

pfam00868
Location:5 → 122

Transglut_N; Transglutaminase family

pfam00927
Location:473 → 573

Transglut_C; Transglutaminase family, C-terminal ig like domain

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

39852468..39893578 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054323958.1 → XP_054179933.1 protein-glutamine gamma-glutamyltransferase 2 isoform X1
XM_054323959.1 → XP_054179934.1 protein-glutamine gamma-glutamyltransferase 2 isoform X2

UniProtKB/Swiss-Prot

E1P5V9, P21980, Q16436, Q6B838, Q9BTN7, Q9H035, Q9UH35

UniProtKB/TrEMBL

V9HWG3
XM_054323960.1 → XP_054179935.1 protein-glutamine gamma-glutamyltransferase 2 isoform X2

UniProtKB/Swiss-Prot

E1P5V9, P21980, Q16436, Q6B838, Q9BTN7, Q9H035, Q9UH35

UniProtKB/TrEMBL

V9HWG3