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CCN6 - cellular communication network factor 6 Gene

Also Known as PPD; LIBC; PPAC; PPRD; WISP3; WISP-3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8838

About 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.

Summary

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 Products (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

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within negative regulation of angiogenesis	IDA IDA: Inferred from direct assay	12082632	GOA
acts upstream of or within negative regulation of cell population proliferation	IDA IDA: Inferred from direct assay	12082632	GOA
involved in regulation of mitochondrial membrane potential	IMP IMP: Inferred from mutant phenotype	27252383	GOA
involved in regulation of reactive oxygen species biosynthetic process	IMP IMP: Inferred from mutant phenotype	27252383	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in extracellular space	IDA IDA: Inferred from direct assay	27252383	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	27252383	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

CCN6 Protein Structure

IGFBP

TSP_1

Cys_knot

0
100
200
300
354 a.a.

Protein Preferred Names	Protein Names
cellular communication network factor 6	CCN family member 6

Related Diseases

Diseases	Alias
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

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02115	CCN6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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