CCN6

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]

Description

Cellular communication network factor 6

Tissue specificity

Tissue enriched (epididymis)

Subcell location

Mitochondria

Predicted location

Intracellular, Secreted to extracellular matrix

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted secreted proteins

Chromosome

6 (112054075 - 112069686)

Ensembl ID

ENSG00000112761  (ver. 103.38)

Orthologs

Mouse Ccn6: ENSMUSG00000062074

UniProt

O95389

neXtProt

NX_O95389

Human splice variants
Mouse splice variants

Protein structure