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
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs62514004 | 8:134,202,489 | A/G | upstream gene variant | — |
| rs141541463 | 8:134,203,415 | G/A | — | uncertain significance |
| rs147047617 | 8:134,203,416 | C/A | — | uncertain significance |
| rs145240649 | 8:134,203,421 | G/A | — | uncertain significance |
| rs149172980 | 8:134,203,425 | C/T | — | uncertain significance |
| rs774136940 | 8:134,203,445 | G/A | — | uncertain significance |
| rs553071094 | 8:134,204,282 | T/C | — | — |
| rs146643864 | 8:134,204,639 | C/T | intron variant | — |
| rs758470620 | 8:134,205,040 | C/T | — | — |
| rs112928658 | 8:134,207,450 | A/G | — | — |
| rs11777304 | 8:134,211,867 | C/A | — | — |
| rs7005834 | 8:134,214,204 | C/A | — | — |
| rs2977530 | 8:134,215,112 | G/A | regulatory region variant | — |
| rs2977537 | 8:134,220,063 | G/A | regulatory region variant | — |
| rs774901329 | 8:134,225,225 | C/T | — | uncertain significance |
| rs73711810 | 8:134,225,328 | G/A | — | benign |
| rs114585111 | 8:134,225,334 | C/T | — | benign |
| rs1317326427 | 8:134,225,372 | T/G | — | uncertain significance |
| rs201239472 | 8:134,232,844 | G/A | — | uncertain significance |
| rs139669488 | 8:134,232,908 | C/T | — | likely benign |
| rs755626224 | 8:134,232,918 | C/T | — | likely benign |
| rs1165827983 | 8:134,232,919 | G/A | — | uncertain significance |
| rs776694942 | 8:134,232,955 | C/T | — | uncertain significance |
| rs376645058 | 8:134,232,962 | C/T | — | uncertain significance |
| rs774356845 | 8:134,232,964 | C/T | — | uncertain significance |
| rs556154589 | 8:134,232,965 | G/A | — | uncertain significance |
| rs139058011 | 8:134,232,983 | C/T | — | uncertain significance |
| rs377237188 | 8:134,232,986 | G/A | — | uncertain significance |
| rs983447505 | 8:134,232,989 | G/A | — | uncertain significance |
| rs775480286 | 8:134,232,998 | T/A | — | uncertain significance |
| rs2537961651 | 8:134,233,012 | T/G | — | uncertain significance |
| rs1854495476 | 8:134,233,030 | G/A | — | uncertain significance |
| rs1315360159 | 8:134,233,048 | C/T | — | uncertain significance |
| rs756892752 | 8:134,233,051 | C/A | — | uncertain significance |
| rs1261414685 | 8:134,233,052 | G/T | — | uncertain significance |
| rs143089011 | 8:134,233,060 | G/A | — | uncertain significance |
| rs1375882655 | 8:134,237,624 | C/T | — | likely benign |
| rs1854690885 | 8:134,237,642 | G/A | — | uncertain significance |
| rs776110779 | 8:134,237,667 | C/G | — | uncertain significance |
| rs139602125 | 8:134,237,713 | G/A | — | uncertain significance |
| rs201767438 | 8:134,237,748 | C/T | — | likely benign |
| rs201197950 | 8:134,237,792 | G/A | — | uncertain significance |
| rs35938742 | 8:134,239,704 | C/T | — | benign |
| rs374293123 | 8:134,239,712 | C/T | — | uncertain significance |
| rs766070030 | 8:134,239,774 | T/C | — | uncertain significance |
| rs200845163 | 8:134,239,819 | T/C | — | uncertain significance |
| rs2537977392 | 8:134,239,893 | T/A | — | uncertain significance |
| rs2537977403 | 8:134,239,899 | T/G | — | uncertain significance |
| rs2929970 | 8:134,241,137 | G/C | — | — |
| rs2929973 | 8:134,242,508 | G/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.