2. Gene
  3. COL6A6 - collagen type VI alpha 6 chain Gene

COL6A6 - collagen type VI alpha 6 chain Gene

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

中文名称：VI 型胶原蛋白 alpha 6 链

种属: Homo sapiens

基因 ID: 131873 | 基因类型: protein coding

关于 COL6A6

Cytogenetic location: 3q22.1 Genomic coordinates (GRCh38): 3:130,516,720-130,677,042 (from NCBI)

This gene has 3 transcripts (splice variants), 280 orthologues and 12 paralogues. Biased expression in lung (RPKM 3.3), fat (RPKM 0.9) and 7 other tissues.

功能概要

该基因编码一种包含多个 von Willebrand 因子结构域的大蛋白，并构成上皮细胞基底层的一个组成部分。这种蛋白质可以调节上皮细胞-纤连蛋白相互作用。该基因的变异可能与皮肤病有关。[RefSeq 提供，2017 年 5 月]

This gene encodes a large protein that contains multiple von Willebrand factor domains and forms a component of the basal lamina of epithelial cells. This protein may regulate epithelial cell-fibronectin interactions. Variation in this gene may be implicated in skin diseases. [provided by RefSeq, May 2017]

COL6A6 基因产物(1)

mRNA Protein Name
NM_001102608.3 NP_001096078.1 collagen alpha-6(VI) chain precursor
基因本体论
  • 细胞组分
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular matrix IDA
IDA: 通过直接分析推断
18400749 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

COL6A6 蛋白结构

VWA

VWA: von Willebrand factor type A domain (27 - 192)

VWA

VWA: von Willebrand factor type A domain (229 - 397)

VWA

VWA: von Willebrand factor type A domain (436 - 605)

VWA

VWA: von Willebrand factor type A domain (622 - 790)

VWA

VWA: von Willebrand factor type A domain (809 - 980)

VWA

VWA: von Willebrand factor type A domain (1000 - 1169)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1392 - 1449)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1579 - 1632)

VWA

VWA: von Willebrand factor type A domain (1758 - 1900)

VWA

VWA: von Willebrand factor type A domain (1967 - 2136)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2263 a.a.
蛋白主名 其他名称

collagen alpha-6(VI) chain

collagen, type VI, alpha 6

关联疾病

疾病名称 别名
Nail Disorder, Nonsyndromic Congenital, 8

Nonsyndromic Congenital Nail Disorder 8

Toenail Dystrophy, Isolated

NDNC8

Isolated Toenail Dystrophy

Nail Disorder, Non-Syndromic Congenital, 8

Isolated Toenail Dystrophy Without Skin Fragility

Nail Disorder, Nonsyndromic Congenital, Type 8
Ullrich Congenital Muscular Dystrophy 1

Ullrich Congenital Muscular Dystrophy

Ullrich Disease

Ucmd

Ullrich Scleroatonic Muscular Dystrophy

Scleroatonic Muscular Dystrophy

UCMD1

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22

Lgmdr22

Muscular Dystrophy, Scleroatonic

Late Onset Scleroatonic Familial Myopathy

Congenital Muscular Dystrophy, Ullrich Type
Bethlem Myopathy 1

Bethlem Myopathy

Myopathy, Benign Congenital, With Contractures

Muscular Dystrophy, Benign Congenital

BTHLM1

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5

Lgmdd5

Benign Congenital Muscular Dystrophy

Benign Autosomal Dominant Myopathy

Myopathy, Bethlem

Myopathy, Bethlem, Type 1
Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 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-RS02996 COL6A6 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus COL6A6 MGD MGI:2444259
Felis catus COL6A6 VGNC VGNC:61069
Bos taurus COL6A6 VGNC VGNC:56214
Macaca mulatta COL6A6 VGNC VGNC:110374
Rattus norvegicus COL6A6 RGD RGD:1309172
Canis familiaris COL6A6 VGNC VGNC:49850
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z