TGM7

protein-coding

transglutaminase 7, the group of Transglutaminases

Gene summary

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]

MANE transcript

NM_052955.3

Inheritance

—

ClinVar variants

U:109B:10

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.88

Max pathogenic AF

—

Genomic locus

chr15:43,276,271-43,302,255

External References & Databases

Ensembl (ENSG00000159495)

Transcript & Mutation Effects

hg38 • Region Span ~26.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TGM7 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 116

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_052955.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				3 clinvar		3
missense			109 clinvar	7 clinvar		116
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	109	10	0	119

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_052955.3	RefSeq	NP_443187.1	13	MANE Select
ENST00000452443.3	Ensembl	ENSP00000389466.2	13	MANE Select
XM_017021903.1	RefSeq	XP_016877392.1	13	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

peptide cross-linking

Molecular Function

protein-glutamine gamma-glutamyltransferase activity
metal ion binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000452443
Coding exons: 13
Length: 25976
Individuals with no LoFs: 125576
Homozygous LoFs: 0
Heterozygous LoFs: 172
Defined: 125748
p: 0.000684

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0286	423	425	0.996	0.0000243	4636
Missense (PolyPhen)		140	145.96	0.95917		1663
Synonymous	0.346	174	180	0.967	0.0000114	1415
Loss of Function	0.681	32	36.4	0.878	0.00000188	367

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00051	0.00049	rare
Latino/Admixed American	0.00079	0.00078	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.0012	0.0011	notable
Finnish	0.00071	0.00065	rare
European (Non-Finnish)	0.00063	0.00062	rare
South Asian	0.00082	0.00082	rare
Other	0.00082	0.00081	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins.;

Recessive Scores

pRec: 0.105

Intolerance Scores

LoFtool: 0.415
RVIS EVS: 0.12
RVIS percentile EVS: 62.17

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium