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  2. TGM6 - transglutaminase 6 Gene

TGM6 - transglutaminase 6 Gene

中文名称:转谷氨酰胺酶 6

种属: Homo sapiens

同用名: TG6; TGY; SCA35; TGM3L; dJ734P14.3

基因 ID: 343641 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质属于转谷氨酰胺酶超家族。它催化蛋白质的交联和多胺与蛋白质的结合。该基因的突变与 35 型脊髓小脑性共济失调 (SCA35) 相关。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2011 年 12 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein-glutamine gamma-glutamyltransferase activity IDA
IDA: 通过直接分析推断
23206699 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
23206699 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

TGM6 蛋白结构

Transglut_N

Transglut_N: Transglutaminase family (5 - 120)

Transglut_core

Transglut_core: Transglutaminase-like superfamily (270 - 357)

Transglut_C

Transglut_C: Transglutaminase family, C-terminal ig like domain (496 - 599)

Transglut_C

Transglut_C: Transglutaminase family, C-terminal ig like domain (608 - 702)

  • 0
  • 200
  • 400
  • 600
  • 706 a.a.
蛋白主名 其他名称

protein-glutamine gamma-glutamyltransferase 6

TGase Y

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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