TGM6 - transglutaminase 6 Gene

Also Known as TG6; TGY; SCA35; TGM3L; dJ734P14.3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 343641

About TGM6

Cytogenetic location: 20p13 Genomic coordinates (GRCh38): 20:2,380,901-2,432,753 (from NCBI)

This gene has 3 transcripts (splice variants), 134 orthologues, 8 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

Summary

The protein encoded by this gene belongs to the Transglutaminase superfamily. It catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Mutations in this gene are associated with spinocerebellar ataxia type 35 (SCA35). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

TGM6 Products (2)

mRNA	Protein	Name
NM_001254734.2	NP_001241663.1	protein-glutamine gamma-glutamyltransferase 6 isoform 2
NM_198994.3	NP_945345.2	protein-glutamine gamma-glutamyltransferase 6 isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein-glutamine gamma-glutamyltransferase activity	IDA IDA: Inferred from direct assay	23206699	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	23206699	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TGM6 Protein Structure

Transglut_N

Transglut_core

Transglut_C

0
200
400
600
706 a.a.

Protein Preferred Names	Protein Names
protein-glutamine gamma-glutamyltransferase 6	TGase Y

Related Diseases

Diseases	Alias
Spinocerebellar Ataxia 35	Spinocerebellar Ataxia Type 35 SCA35 Ataxia, Spinocerebellar, Type 35
Leukemia, Acute Myeloid	Acute Myeloid Leukemia Leukemia, Acute Myelogenous Acute Myelogenous Leukemia AML Leukemia, Acute Myeloid, Susceptibility To Acute Myeloblastic Leukemia Leukemia, Acute Myeloid, Reduced Survival In, Somatic Acute Myeloid Leukaemia Leukemia, Myelocytic, Acute Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome Secondary Aml Acute Myelocytic Leukemia Acute Myeloid Leukemia, Somatic Leukemia, Acute Myeloid, Somatic Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic Acute Myeloblastic Leukaemia Acute Myelogenous Leukaemia Aml - Acute Myeloid Leukemia Acute Myeloid Leukemia With Cebpa Somatic Mutations Aml With Cebpa Somatic Mutations Inherited Acute Myeloid Leukemia Familial Aml Inherited Aml Pure Familial Aml Pure Familial Acute Myeloid Leukemia Secondary Acute Myeloid Leukemia Therapy-Related Aml And Myelodysplastic Syndrome Acute Myeloid Leukemia, Secondary Acute Non-Lymphoblastic Leukemia Acute Non-Lymphocytic Leukemia Acute Biphenotypic Leukemia Acute Undifferentiated Leukemia Acute Myeloblastic Leukaemia With Multilineage Dysplasia Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission Acute Myeloid Leukaemia With Myelodysplasia-Related Features
Dermatitis Herpetiformis	Duhring'S Disease Duhring-Brocq Disease Dermatosis Herpetiformis Brocq-Duhring Disease Dh Duhring Brocq Disease Dh - [Dermatitis Herpetiformis]
Torticollis	Contracture Of Neck Wry Neck Wry Neck/Torticollis
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	PEOA1 Autosomal Dominant Progressive External Ophthalmoplegia 1 Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 1 Chronic Progressive External Ophthalmoplegia Progressive External Ophthalmoplegia, Autosomal Dominant 1 Cpeo Graefe Disease Mitochondrial Ocular Myopathy Ocular Myopathy Of Von Graefe-Fuchs Progressive External Ophthalmoplegia Autosomal Dominant Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 1 Kearns-Sayre Syndrome
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
Cerebellar Ataxia Type 43	Sca43
Spherocytosis, Type 5	Hereditary Spherocytosis Type 5 SPH5 Hs5 Spherocytosis, Hereditary, 5 Hereditary Spherocytosis 5 Spherocytosis 5 Spherocytosis, Hereditary, Type 5
Spinocerebellar Ataxia, X-Linked 1	X-Linked Progressive Cerebellar Ataxia SCAX1 Opcax X-Linked Spinocerebellar Ataxia 1 Olivopontocerebellar Atrophy, X-Linked Opca, X-Linked Olivopontocerebellar Atrophy X-Linked Opca X-Linked Ataxia, Spinocerebellar, X-Linked Type 1
Extratemporal Epilepsy
Postaxial Acrofacial Dysostosis	Miller Syndrome POADS Genee-Wiedemann Syndrome Postaxial Acrodysostosis Genee-Wiedemann Acrofacial Dysostosis Acrofacial Dysostosis, Genee-Wiedmann Type Mandibulfacial Dysostosis With Postaxial Limb Anomalies Gwafd Poads Syndrome Postaxial Acrofacial Dysostosis Syndrome Wildervanck-Smith Syndrome Acrofacial Dysostosis, Genee-Wiedemann Type Mandibulofacial Dysostosis With Postaxial Limb Anomalies Genée-Wiedemann Syndrome Chromosome 11p Deletion Syndrome
Celiac Disease 1	Celiac Disease Coeliac Disease Celiac Sprue Celiac Disease, Susceptibility To Gluten-Sensitive Enteropathy Nontropical Sprue Sprue CELIAC1 Celiac Disease, Susceptibility To, 1 Celiac Sprue 1 Celiac Sprue, Susceptibility To, 1 Gluten-Sensitive Enteropathy 1 Gluten-Sensitive Enteropathy, Susceptibility To, 1 Idiopathic Steatorrhea Cœliac Disease Gluten Intolerance Gluten-Induced Enteropathy Gluten Enteropathy Celiac Disease, Susceptibility To, Type 1 Childhood Celiac Disease Coeliac Rickets Gee Disease Gee-Herter Disease Heubner-Herter Disease Idiopathic Steatorrhoea Thaysen'S Disease Herter Gee Syndrome
Autosomal Dominant Cerebellar Ataxia	Spinocerebellar Ataxia Adca Pierre Marie Cerebellar Ataxia Ataxia, Spinocerebellar Sca Autosomal Dominant Spinocerebellar Ataxia Spinocerebellar Ataxias
Hereditary Ataxia	Sca Spinocerebellar Ataxia Ataxias Hereditary Ataxias, Hereditary
Cerebellar Disease	Cerebellar Diseases Cerebellar Dysfunction Cerebellar Abnormality Cerebellar Disorders
Episodic Ataxia	Isaacs Syndrome Neuromyotonia Isaacs' Syndrome Acquired Neuromyotonia Continuous Muscle Fiber Activity Syndrome Quantal Squander Syndrome Isaacs-Mertens Syndrome Ea Syndrome Episodic Ataxia Syndrome Isaac Syndrome Isaac'S-Merten'S Syndrome Isaac-Mertens Syndrome Peripheral Nerve Hyperexcitability Ea Peripheral Nerve Hyperexcitability Syndrome Ataxia, Episodic Isaacs Neuromyotonia Continuous Muscle Fibre Activity
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

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14462	TGM5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS14463	TGM6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	TGM6	VGNC	VGNC:47319
Macaca mulatta	TGM6	VGNC	VGNC:108065
Mus musculus	TGM6	MGD	MGI:3044321
Bos taurus	TGM6	VGNC	VGNC:35813
Rattus norvegicus	TGM6	RGD	RGD:1565348
Felis catus	TGM6	VGNC	VGNC:66144
Others	TGM6	NCBI