CCN4

cellular communication network factor 4

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 may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. It is expressed at a high level in fibroblast cells, and overexpressed in colon tumors. The encoded protein binds to decorin and biglycan, two members of a family of small leucine-rich proteoglycans present in the extracellular matrix of connective tissue, and possibly prevents the inhibitory activity of decorin and biglycan in tumor cell proliferation. It also attenuates p53-mediated apoptosis in response to DNA damage through activation of the Akt kinase. It is 83% identical to the mouse protein at the amino acid level. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2011]

Known Variants50 total

rsidPosition (GRCh37)AllelesClassClinVar
rs625140048:134,202,489A/Gupstream gene variant
rs1415414638:134,203,415G/Auncertain significance
rs1470476178:134,203,416C/Auncertain significance
rs1452406498:134,203,421G/Auncertain significance
rs1491729808:134,203,425C/Tuncertain significance
rs7741369408:134,203,445G/Auncertain significance
rs5530710948:134,204,282T/C
rs1466438648:134,204,639C/Tintron variant
rs7584706208:134,205,040C/T
rs1129286588:134,207,450A/G
rs117773048:134,211,867C/A
rs70058348:134,214,204C/A
rs29775308:134,215,112G/Aregulatory region variant
rs29775378:134,220,063G/Aregulatory region variant
rs7749013298:134,225,225C/Tuncertain significance
rs737118108:134,225,328G/Abenign
rs1145851118:134,225,334C/Tbenign
rs13173264278:134,225,372T/Guncertain significance
rs2012394728:134,232,844G/Auncertain significance
rs1396694888:134,232,908C/Tlikely benign
rs7556262248:134,232,918C/Tlikely benign
rs11658279838:134,232,919G/Auncertain significance
rs7766949428:134,232,955C/Tuncertain significance
rs3766450588:134,232,962C/Tuncertain significance
rs7743568458:134,232,964C/Tuncertain significance
rs5561545898:134,232,965G/Auncertain significance
rs1390580118:134,232,983C/Tuncertain significance
rs3772371888:134,232,986G/Auncertain significance
rs9834475058:134,232,989G/Auncertain significance
rs7754802868:134,232,998T/Auncertain significance
rs25379616518:134,233,012T/Guncertain significance
rs18544954768:134,233,030G/Auncertain significance
rs13153601598:134,233,048C/Tuncertain significance
rs7568927528:134,233,051C/Auncertain significance
rs12614146858:134,233,052G/Tuncertain significance
rs1430890118:134,233,060G/Auncertain significance
rs13758826558:134,237,624C/Tlikely benign
rs18546908858:134,237,642G/Auncertain significance
rs7761107798:134,237,667C/Guncertain significance
rs1396021258:134,237,713G/Auncertain significance
rs2017674388:134,237,748C/Tlikely benign
rs2011979508:134,237,792G/Auncertain significance
rs359387428:134,239,704C/Tbenign
rs3742931238:134,239,712C/Tuncertain significance
rs7660700308:134,239,774T/Cuncertain significance
rs2008451638:134,239,819T/Cuncertain significance
rs25379773928:134,239,893T/Auncertain significance
rs25379774038:134,239,899T/Guncertain significance
rs29299708:134,241,137G/C
rs29299738:134,242,508G/A

Gene information from NCBI Gene. Variant classifications from ClinVar.