Human Gene CCN6 (ENST00000368666.7) from GENCODE V44
Description: Homo sapiens cellular communication network factor 6 (CCN6), transcript variant 3, mRNA. (from RefSeq NM_198239) RefSeq Summary (NM_198239): 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]. Gencode Transcript: ENST00000368666.7 Gencode Gene: ENSG00000112761.22 Transcript (Including UTRs) Position: hg38 chr6:112,054,104-112,069,686 Size: 15,583 Total Exon Count: 5 Strand: + Coding Region Position: hg38 chr6:112,054,358-112,069,620 Size: 15,263 Coding Exon Count: 5
ID:WISP3_HUMAN DESCRIPTION: RecName: Full=WNT1-inducible-signaling pathway protein 3; Short=WISP-3; AltName: Full=CCN family member 6; Flags: Precursor; FUNCTION: Appears to be required for normal postnatal skeletal growth and cartilage homeostasis. SUBCELLULAR LOCATION: Secreted (Probable). TISSUE SPECIFICITY: Predominant expression in adult kidney and testis and fetal kidney. Weaker expression found in placenta, ovary, prostate and small intestine. Also expressed in skeletally- derived cells such as synoviocytes and articular cartilage chondrocytes. DISEASE: Defects in WISP3 are the cause of progressive pseudorheumatoid arthropathy of childhood (PPAC) [MIM:208230]. PPAC is an autosomal recessive disorder characterized by stiffness and swelling of joints, motor weakness and joint contractures. Signs and symptoms of the disease develop typically between three and eight years of age. This progressive disease is a primary disorder of articular cartilage with continued cartilage loss and destructive bone changes with aging. SIMILARITY: Belongs to the CCN family. SIMILARITY: Contains 1 CTCK (C-terminal cystine knot-like) domain. SIMILARITY: Contains 1 IGFBP N-terminal domain. SIMILARITY: Contains 1 TSP type-1 domain. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/WISP3ID469ch6q22.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/WISP3";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00007 - Cystine-knot domain PF00219 - Insulin-like growth factor binding protein PF00090 - Thrombospondin type 1 domain
ModBase Predicted Comparative 3D Structure on O95389
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
