TGM5 - transglutaminase 5 Gene

Homo sapiens

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

Gene ID: 9333 | Gene type: protein coding

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

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

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

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