2. Gene
  3. TMC6 - transmembrane channel like 6 Gene

TMC6 - transmembrane channel like 6 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：跨膜通道样 6

种属: Homo sapiens

同用名: EV1; lnc; EVER1; EVIN1; LAK-4P; TNRC6C-AS1

基因 ID: 11322 | 基因类型: protein coding

关于 TMC6

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:78,107,397-78,132,427 (from NCBI)

This gene has 32 transcripts (splice variants), 260 orthologues, 7 paralogues and is associated with 3 phenotypes. Broad expression in spleen (RPKM 21.6), lymph node (RPKM 18.5) and 20 other tissues.

功能概要

疣状表皮发育不良 (EV) 是一种常染色体隐性遗传性皮肤病，其特征是对人乳头瘤病毒 (HPV) 异常易感，并且在暴露于阳光下的皮肤上进展为鳞状细胞癌的几率很高。 EV 是由位于染色体 17q25.3 上的两个相邻基因中的任何一个的突变引起的。这两个基因都编码整合膜蛋白，这些蛋白定位于内质网，预计会形成跨膜通道。该基因编码具有 10 个跨膜结构域和 2 个亮氨酸拉链基序的跨膜通道样蛋白。[RefSeq 提供，2008 年 7 月]

Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 10 transmembrane domains and 2 leucine zipper motifs. [provided by RefSeq, Jul 2008]

TMC6 基因产物(8)

mRNA Protein Name
NM_001127198.5 NP_001120670.1 transmembrane channel-like protein 6 isoform 1
NM_001321185.1 NP_001308114.1 transmembrane channel-like protein 6 isoform 1
NM_001374593.1 NP_001361522.1 transmembrane channel-like protein 6 isoform 2
NM_001374594.1 NP_001361523.1 transmembrane channel-like protein 6 isoform 2
NM_001374596.1 NP_001361525.1 transmembrane channel-like protein 6 isoform 1
NM_001375353.1 NP_001362282.1 transmembrane channel-like protein 6 isoform 1
NM_001375354.1 NP_001362283.1 transmembrane channel-like protein 6 isoform 1
NM_007267.7 NP_009198.4 transmembrane channel-like protein 6 isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
18158319 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in intracellular zinc ion homeostasis IDA
IDA: 通过直接分析推断
18158319 GOA
involved in protein stabilization IMP
IMP: 通过突变表型推断
32917726 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
18158319 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
12426567 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
12426567 GOA
located in nuclear membrane IDA
IDA: 通过直接分析推断
18158319 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

TMC6 蛋白结构

TMC

TMC: TMC domain (540 - 646)

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

transmembrane channel-like protein 6

TNRC6C antisense RNA 1

TMC6 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
TMC6 Q7Z403 JPH3 Homo sapiens Q8WXH2
Y2H Array
32814053
种属内
TMC6 Q7Z403 JPH3 Homo sapiens Q8WXH2
Y2H Pooling
32814053
种属内
TMC6 Q7Z403 JPH3 Homo sapiens Q8WXH2
Validated Y2H
32814053
种属内
TMC6 Q7Z403 ZBTB2 Homo sapiens Q8N680
Validated Y2H
32296183
种属内
TMC6 Q7Z403 PECAM1 Homo sapiens P16284
Y2H Array
32814053
种属内
TMC6 Q7Z403 PECAM1 Homo sapiens P16284
Y2H Pooling
32814053
种属内
TMC6 Q7Z403 PECAM1 Homo sapiens P16284
Validated Y2H
32814053
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Epidermodysplasia Verruciformis 1

Epidermodysplasia Verruciformis

Epidermodysplasia Verruciformis, Susceptibility To, 1

Lutz-Lewandowsky Epidermodysplasia Verruciformis

EV1

Lewandowsky-Lutz Syndrome

Ev
Skin Carcinoma

Skin Cancer

Carcinoma Of Skin

Ca - Skin Cancer

Cancer Of Skin

Malignant Neoplasm Of Skin

Melanoma And Non-Melanoma Skin Cancer

Skin Cancers

Cancer, Skin
Pityriasis Versicolor

Tinea Versicolor

Infection By Pityrosporum Furfur
Superficial Mycosis

Piedra

Steroid-Modified Tinea Infection
Common Wart

Verruca Vulgaris

Viral Warts Nos

Filiform Warts

Digitate Warts
Plantar Wart

Verruca Plantaris

Verrucae On Sole Of Foot

Mosaic Plantar Warts
Deafness, Autosomal Recessive 76

DFNB76

Autosomal Recessive Nonsyndromic Deafness 76

Autosomal Recessive Deafness 76

Deafness, Autosomal Recessive, 76

Deafness, Autosomal Recessive, Type 76
Epidemic Pleurodynia

Bornholm Disease

Epidemic Myalgia

Pleurodynia, Epidemic

Devil'S Grip

Bamble Disease

Epidemic Pleurisy

Epidemic, Myositis

Dabney'S Grip

Epidemic Benign Dry Pleurisy

Epidemic Cervical Myalgia
Angiokeratoma Of Fordyce

Fordyce Angiokeratoma

Fordyce'S Spot

Fordyce-Type Angiokeratoma Of Scrotum
Focal Epithelial Hyperplasia

Heck'S Disease

Heck Disease

Multifocal Epithelial Hyperplasia
Keratosis, Seborrheic

Seborrheic Keratosis

Keratosis, Seborrheic, Somatic

Basal Cell Papilloma

Keratosis Seborrheica

KERSEB
Acanthoma
Whim Syndrome 1

Whim Syndrome

Whims

Warts, Hypogammaglobulinemia, Infections, And Myelokathexis

WHIMS1

Warts-Hypogammaglobulinemia-Infections-Myelokathexis Syndrome

Warts, Hypogammaglobulinemia, Infections, And Myelokathexis Syndrome 1

Myelokathexis, Isolated

Wilm

Warts-Infections-Leukopenia-Myelokatexis Syndrome

Warts, Hypogammaglobulinemia, Infections And Myelokathexis Syndrome 1
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS14626 TMC6 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus TMC6 VGNC VGNC:35922
Rattus norvegicus TMC6 RGD RGD:1591146
Canis familiaris TMC6 VGNC VGNC:47425
Mus musculus TMC6 MGD MGI:1098686
Macaca mulatta TMC6 VGNC VGNC:79109
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