TGM5 - transglutaminase 5 Gene

Also Known as TGX; PSS2; TGM6; TGMX; TG(X); TGASE5; TGASEX

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9333

About TGM5

Cytogenetic location: 15q15.2 Genomic coordinates (GRCh38): 15:43,232,590-43,266,928 (from NCBI)

This gene has 5 transcripts (splice variants), 128 orthologues, 8 paralogues and is associated with 3 phenotypes. Biased expression in skin (RPKM 7.6), esophagus (RPKM 3.4) and 1 other tissue.

Summary

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]

TGM5 Products (2)

mRNA	Protein	Name
NM_004245.4	NP_004236.1	protein-glutamine gamma-glutamyltransferase 5 isoform 2
NM_201631.4	NP_963925.2	protein-glutamine gamma-glutamyltransferase 5 isoform 1

TGM5 Protein Structure

Transglut_N

Transglut_core

Transglut_C

0
200
400
600
720 a.a.

Protein Preferred Names	Protein Names
protein-glutamine gamma-glutamyltransferase 5	TGase X

TGM5 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TGM5	O43548	GRB7	Homo sapiens	Q14451-3	Validated Y2H	32296183
Intra	TGM5	O43548	LARP4	Homo sapiens	Q6P4E2	Validated Y2H	32296183
Intra	TGM5	O43548	KANK2	Homo sapiens	Q63ZY3	Validated Y2H	32296183
Intra	TGM5	O43548	LGALS7	Homo sapiens	P47929	Validated Y2H	32296183
Intra	TGM5	O43548	RBM41	Homo sapiens	Q96IZ5	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Peeling Skin Syndrome 2	Acral Peeling Skin Syndrome Peeling Skin Syndrome, Acral Type Apss PSS2 Acral Pss Acral Deciduous Skin Localized Pss Localized Deciduous Skin Peeling Skin Syndrome Type A Skin, Peeling, Syndrome, Type 2
Peeling Skin Syndrome 1	Deciduous Skin PSS1 Keratolysis Exfoliativa Congenita Peeling Skin Syndrome Type B Pss Skin Peeling, Familial Continuous Generalized Generalized Deciduous Skin Type B Generalized Peeling Skin Syndrome Type B Inflammatory Peeling Skin Syndrome Pss Type B Skin Peeling Familial Continuous Generalized Skin, Peeling, Syndrome, Type 1 Peeling Skin Syndrome
Peeling Skin Syndrome	Deciduous Skin Familial Continuous Skin Peeling Syndrome Idiopathic Deciduous Skin Keratosis Exfoliativa Congenita Pss Peeling Skin Disease Skin Peeling Syndrome Familial Continuous Skin Peeling Keratolysis Exfoliativa Congenita Exfoliation Syndrome Keratolysis Exfoliativa
Spinocerebellar Ataxia 35	Spinocerebellar Ataxia Type 35 SCA35 Ataxia, Spinocerebellar, Type 35
Epidermolysis Bullosa Simplex	Ebs Epidermolysis Bullosa Intraepidermic Epidermolytic Epidermolysis Bullosa
Epidermolysis Bullosa	Acantholysis Bullosa Eb
Spinocerebellar Ataxia, Autosomal Recessive 17	Autosomal Recessive Spinocerebellar Ataxia 17 SCAR17 Autosomal Recessive Cerebellar Ataxia Due To Cwf19l1 Deficiency Spinocerebellar Ataxia Autosomal Recessive Type 17 Spinocerebellar Ataxia, Autosomal Recessive, 17 Ataxia, Spinocerebellar, Autosomal Recessive, Type 17
Complement Component 2 Deficiency	C2D C2 Deficiency Complement 2 Deficiency Complement Component-2
Spinocerebellar Ataxia 30	Spinocerebellar Ataxia Type 30 SCA30 Cerebellar Ataxia Early-Onset Nonprogressive Spinocerebellar Ataxia 29 Acv Aplasia Of Cerebellar Vermis Cerebellar Vermis Aplasia Congenital Nonprogressive Spinocerebellar Ataxia Sca29 Spinocerebellar Ataxia Type 29
Transient Global Amnesia	Amnesia, Transient Global
Ichthyosis	Ichthyoses Non-Syndromic Ichthyosis Congenital Ichthyosis
Epidermolysis Bullosa Simplex 1a, Generalized Severe	Epidermolysis Bullosa Simplex, Dowling-Meara Type Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type EBS1A Ebsdm Epidermolysis Bullosa Simplex Dowling-Meara Type Epidermolysis Bullosa Simplex, Herpetiformis Ebs-Dm Epidermolysis Bullosa Simplex 1a, Dowling-Meara Type Ebs-Gen Sev Epidermolysis Bullosa Herpetiformis Dowling-Meara Type Generalized Severe Epidermolysis Bullosa Simplex Dowling-Meara Type Epidermolysis Bullosa Simplex Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form Autosomal Dominant Generalized Ebs, Severe Form Epidermolysis Bullosa Simplex Herpetiformis Dm-Ebs Epidermolysis Bullosa Simplex, Generalized Severe Epidermolysis Bullosa Herpetiformis, Dowling-Meara Epidermolysis Bullosa Herpetiformis Dowling-Meara
Autosomal Recessive Congenital Ichthyosis	Lamellar Ichthyosis Congenital Ichthyosiform Erythroderma Li Congenital Nonbullous Ichthyosiform Erythroderma Arci Congenital Lamellar Ichthyosis Nonbullous Congenital Ichthyosiform Erythroderma Cie Congenital Non-Bullous Ichthyosiform Erythroderma Erythrodermic Ichthyosis Nbcie Ncie Non-Bullous Congenital Ichthyosiform Erythroderma Collodion Baby Ichthyosis, Lamellar Non Bullous Congenital Ichthyosiform Erythroderma Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 Collodion Baby Syndrome Ichthyoses, Lamellar Nbie Nonbullous Ichthyosiform Erythroderma Classic Lamellar Ichthyosis Ichthyosiform Erythroderma Nonbullous Congenital Ichthyosiform Erythroderma Congenital Ichthyosis, Congenital, Autosomal Recessive Ichthyosiform Erythroderma, Congenital Collodion Fetus Non-Bullous Ichthyosiform Erythroderma
Pachyonychia Congenita 1	Pachyonychia Congenita Jadassohn-Lewandowsky Syndrome Pachyonychia Congenita Syndrome PC1 Pachyonychia Congenita, Jadassohn-Lewandowsky Type Congenital Pachyonychia Pachyonychia Congenita, Type 1 Pachyonychia Congenita, Jadassohn-Lewandowsky Type, Formerly Jadassohn-Lewandowsky Syndrome, Formerly Jackson-Lawler Type Pachyonychia Congenita Pachyonychia Congenita Type 1 Jackson-Lawler Syndrome Jadassohn-Lewandowski Syndrome Pc Pachyonychia Congenita Jackson-Lawler Type Pachyonychia Congenita Jadassohn-Lewandowsky Type Pachyonychia Congenita Jackson Lawler Type Pc-1 Pachyonychia Congenita, Jadassohn Lewandowsky Type Pachyonychia Congenita, Type 2

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14462	TGM5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	TGM5	VGNC	VGNC:78341
Felis catus	TGM5	VGNC	VGNC:66143
Mus musculus	TGM5	MGD	MGI:1921426
Bos taurus	TGM5	VGNC	VGNC:35812
Rattus norvegicus	TGM5	RGD	RGD:1593350
Canis familiaris	TGM5	VGNC	VGNC:47318
Others	TGM5	NCBI