Gene: CCN6
Alternate names for this Gene: LIBC|PPAC|PPD|PPRD|WISP-3|WISP3
Gene 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.
Gene is located in Chromosome: 6
Location in Chromosome : 6q21
Description of this Gene: cellular communication network factor 6
Type of Gene: protein-coding
rs1554314738 in
CCN6 gene and
Movement Disorders
PMID 22791401 2012 The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.
PMID 29092958 2018 WISP3 mutation associated with pseudorheumatoid dysplasia.
PMID 23270760 2013 A descriptive analysis of 14 cases of progressive-psuedorheumatoid-arthropathy of childhood from south India: review of literature in comparison with juvenile idiopathic arthritis.
PMID 22987568 2012 Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.
PMID 25988854 2015 Novel and recurrent mutations in WISP3 and an atypical phenotype.
rs121908899 in
CCN6 gene and
Progressive pseudorheumatoid dysplasia
PMID 22685593 2012 Novel and recurrent mutations of WISP3 in two Chinese families with progressive pseudorheumatoid dysplasia.
PMID 22987568 2012 Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.
PMID 29092958 2018 WISP3 mutation associated with pseudorheumatoid dysplasia.
PMID 25988854 2015 Novel and recurrent mutations in WISP3 and an atypical phenotype.
PMID 25738435 2015 Identification of a mutation in the WISP3 gene in three unrelated families with progressive pseudorheumatoid dysplasia.
PMID 10471507 1999 Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.
PMID 16152649 2005 Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: identification of two novel mutations, and description of a founder effect.
PMID 27436824 2016 WISP3 mutational analysis in Indian patients diagnosed with progressive pseudorheumatoid dysplasia and report of a novel mutation at p.Y198.
PMID 25794430 2015 A novel compound WISP3 mutation in a Chinese family with progressive pseudorheumatoid dysplasia.
PMID 19064006 2009 Identification of novel mutations in WISP3 gene in two unrelated Chinese families with progressive pseudorheumatoid dysplasia.
PMID 23270760 2013 A descriptive analysis of 14 cases of progressive-psuedorheumatoid-arthropathy of childhood from south India: review of literature in comparison with juvenile idiopathic arthritis.
PMID 12819927 2004 Clinical, radiographic, and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy.
PMID 22791401 2012 The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.
PMID 25794430 2015 Our study suggests that novel C223G and C252X mutations in exon 4 of the WISP3 gene are responsible for PPD in Chinese patients.