CCN6 - cellular communication network factor 6 Gene

中文名称：蜂窝通信网络因素 6

种属: Homo sapiens

同用名: PPD; LIBC; PPAC; PPRD; WISP3; WISP-3

基因 ID: 8838 | 基因类型: protein coding

关于 CCN6

Cytogenetic location: 6q21 Genomic coordinates (GRCh38): 6:112,052,813-112,069,686 (from NCBI)

This gene has 9 transcripts (splice variants), 203 orthologues, 5 paralogues and is associated with 2 phenotypes. Biased expression in testis (RPKM 1.0), skin (RPKM 0.5) and 4 other tissues.

功能概要

该基因编码 WNT1 诱导信号通路 (WISP) 蛋白亚家族的成员，属于结缔组织生长因子 (CTGF) 家族。 WNT1 是富含半胱氨酸的糖基化信号蛋白家族的成员，可介导多种发育过程。 CTGF 家族成员的特征在于四个保守的富含半胱氨酸的结构域：胰岛素样生长因子结合结构域、von Willebrand 因子 C 型模块、血小板反应蛋白结构域和 C 末端胱氨酸结样结构域。该基因在结肠肿瘤中过表达。它可能位于与恶性转化相关的 WNT1 信号通路的下游。该基因的突变与进行性假性类风湿性发育不良有关，这是一种常染色体隐性遗传骨骼疾病，表明该基因对于正常的出生后骨骼生长和软骨稳态至关重要。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2008 年 7 月]

This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene is overexpressed in colon tumors. It may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Mutations of this gene are associated with progressive pseudorheumatoid dysplasia, an autosomal recessive skeletal disorder, indicating that the gene is essential for normal postnatal skeletal growth and cartilage homeostasis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

CCN6 基因产物(2)

mRNA	Protein	Name
NM_003880.4	NP_003871.1	cellular communication network factor 6 isoform 1 precursor
NM_198239.2	NP_937882.2	cellular communication network factor 6 isoform 1 precursor

基因本体论

生物过程
细胞组分

生物过程 GO 注释	逻辑证据	参考文献	来源
acts upstream of or within negative regulation of angiogenesis	IDA IDA: 通过直接分析推断	12082632	GOA
acts upstream of or within negative regulation of cell population proliferation	IDA IDA: 通过直接分析推断	12082632	GOA
involved in regulation of mitochondrial membrane potential	IMP IMP: 通过突变表型推断	27252383	GOA
involved in regulation of reactive oxygen species biosynthetic process	IMP IMP: 通过突变表型推断	27252383	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in extracellular space	IDA IDA: 通过直接分析推断	27252383	GOA
located in mitochondrion	IDA IDA: 通过直接分析推断	27252383	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

CCN6 蛋白结构

IGFBP

TSP_1

Cys_knot

0
100
200
300
354 a.a.

蛋白主名

其他名称

cellular communication network factor 6

CCN family member 6

关联疾病

疾病名称

别名

Progressive Pseudorheumatoid Dysplasia

Progressive Pseudorheumatoid Arthropathy Of Childhood	Arthropathy, Progressive Pseudorheumatoid, Of Childhood
Spondyloepiphyseal Dysplasia Tarda With Progressive Arthropathy	Ppd
Ppac	Sedt-Pa
Spondyloepiphyseal Dysplasia Tarda-Progressive Arthropathy Syndrome	PPRD
Progressive Pseudorheumatoid Chondrodysplasia	Spondyloepiphyseal Dysplasia Tarda - Progressive Arthropathy
Spondyloepiphyseal Dysplasia Tarda With Progressive Arthropathy
Dysplasia, Pseudorheumatoid, Progressive

Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive

Autosomal Recessive Spondyloepiphyseal Dysplasia Tarda

Inflammatory Breast Carcinoma

Inflammatory Breast Cancer	Inflammatory Carcinoma Of Breast
Mastitis Carcinomatosa	Breast Cancer, Inflammatory
Inflammatory Breast Neoplasms	Inflammatory Adenocarcinoma Of Breast

Arthropathy

Ankylosis Of Ankle And Foot Joint	Ankylosis Of Forearm Joint
Ankylosis Of Hand Joint	Ankylosis Of Joint Of Ankle And/Or Foot
Ankylosis Of Joint Of Forearm	Ankylosis Of Joint Of Hand
Ankylosis Of Joint Of Lower Leg	Ankylosis Of Joint Of Multiple Sites
Ankylosis Of Joint Of Pelvic Region And Thigh	Ankylosis Of Joint Of Shoulder Region
Ankylosis Of Joint Of Upper Arm	Ankylosis Of Lower Leg Joint
Ankylosis Of Multiple Joints	Ankylosis Of Upper Arm Joint
Infectious Arthropathy	Joint Ankylosis Of The Ankle And Foot
Joint Ankylosis Of The Ankle And/Or Foot	Joint Ankylosis Of The Forearm
Joint Ankylosis Of The Hand	Joint Ankylosis Of The Lower Leg
Joint Ankylosis Of The Pelvic Region And Thigh	Joint Ankylosis Of The Shoulder Region
Joint Ankylosis Of The Upper Arm	Joint Diseases
Joint Disease	Arthropathy Associated With Infection

Bladder Transitional Cell Papilloma

Bladder Papilloma	Transitional Cell Papilloma Of Bladder
Urinary Bladder Urothelial Papilloma	Urothelial Papilloma
Bladder Urothelial Papilloma

Wilms Tumor 5

Wilms Tumor	WT5
Wilms Tumor Susceptibility-5	Wilms Tumor And Radial Bilateral Aplasia
Nephroblastoma	Wilms' Tumor
Wilms Tumor, Susceptibility To	Wtsl
Bilateral Radial Aplasia With Wilms Tumor	Embryonal Adenosarcoma
Embryonal Nephroma	Kidney Wilms Tumor
Kidney, Adenomyosarcoma, Embryonal	Kidney, Carcinosarcoma, Embryonal
Kidney, Embryoma	Kidney, Embryonal Mixed Tumor
Nephroma	Renal Adenosarcoma
Renal Cancer, Wilms	Renal Wilms Tumor
Tumor, Wilms	Hereditary Susceptibility To Wilms Tumor 5

Primary Hypertrophic Osteoarthropathy

Pachydermoperiostosis Syndrome	Osteoarthropathy, Primary Hypertrophic
Pachydermoperiostosis Of Nail	Idiopathic Hypertrophic Osteoarthropathy
Pho

Bladder Papillary Transitional Cell Neoplasm

Urinary Bladder Papillary Urothelial Neoplasm

Bladder Papillary Urothelial Neoplasm

Urinary Tract Papillary Transitional Cell Benign Neoplasm

Inverted Papilloma Of Urinary Tract	Papillary Transitional Cell Neoplasm Of The Urinary Tract
Urinary Tract Inverted Papilloma	Inverted Urothelial Papilloma

Scoliosis

Osteochondrodysplasia

Skeletal Dysplasia	Chondrodystrophy
Congenital Anomaly Of Cartilage	Osteochondrodysplasias
Cartilage Development Disorder	Osteochondrodysplasia Syndrome
Dysplasia, Skeletal	Mucopolysaccharidosis Iv

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS02115	CCN6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	CCN6	RGD	RGD:1564120
Canis familiaris	CCN6	VGNC	VGNC:48416
Bos taurus	CCN6	VGNC	VGNC:36946
Felis catus	CCN6	VGNC	VGNC:60549
Macaca mulatta	CCN6	VGNC	VGNC:70707
Mus musculus	CCN6	MGD	MGI:2685581

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

CCN6 - cellular communication network factor 6 Gene

关于 CCN6

功能概要

CCN6 基因产物(2)

CCN6 蛋白结构

关联疾病

直系同源

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CCN6 - cellular communication network factor 6 Gene

关于 CCN6

功能概要

CCN6 基因产物(2)

CCN6 蛋白结构

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

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Q

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T

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