Cellular Communication Network Factor 6

Alternative Names

  • CCN6
  • Wnt1-Inducible Signaling Pathway Protein 3
  • WISP3
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OMIM Number

603400

NCBI Gene ID

8838

Uniprot ID

O95389

Length

16,874 bases

No. of Exons

11

No. of isoforms

2

Protein Name

Cellular communication network factor 6

Molecular Mass

39293 Da

Amino Acid Count

354

Genomic Location

chr6:112,052,812-112,069,685

Gene Map Locus
6q21

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_003880.3:c.156C>ALebanon; Palestine; Sy...NC_000006.12:g.112061098C>APathogenicPathogenicProgressive Pseudorheumatoid DysplasiaNG_011748.1:g.12024C>A; NM_003880.3:c.156C>A; NP_003871.1:p.Cys52Ter1219089016381
NM_003880.3:c.168G>TJordanNC_000006.12:g.112061110G>TBenignLikely BenignProgressive Pseudorheumatoid DysplasiaNG_011748.1:g.12036G>T; NM_003880.3:c.168G>T; NP_003871.1:p.Gln56His1230345355060
NM_003880.3:c.248G>ALebanon; Palestine; Sy...NC_000006.12:g.112061190G>ABenign, Likely BenignUncertain SignificanceProgressive Pseudorheumatoid DysplasiaNG_011748.1:g.12116G>A; NM_003880.3:c.248G>A; NP_003871.1:p.Gly83Glu147337485638295
NM_003880.3:c.48+2dupJordanNC_000006.12:g.112054407dupPathogenicLikely PathogenicProgressive Pseudorheumatoid DysplasiaNG_011748.1:g.5333dup; NM_003880.3:c.48+2dup7970444396384
NM_003880.3:c.536_537delSyriaNC_000006.12:g.112064944_112064945delUncertain SignificanceProgressive Pseudorheumatoid DysplasiaNG_011748.1:g.15870_15871del; NM_003880.3:c.536_537del; NP_003871.1:p.Cys179Ter
NM_003880.3:c.589G>CSyriaNC_000006.12:g.112064997G>CLikely PathogenicUncertain SignificanceProgressive Pseudorheumatoid DysplasiaNG_011748.1:g.15923G>C; NM_003880.3:c.589G>C; NP_003871.1:p.Ala197Pro1554313639637051
NM_003880.4:c.707delYemenNC_000006.12:g.112068322delPathogenicPathogenicProgressive Pseudorheumatoid DysplasiaNG_011748.1:g.19248del; NM_003880.4:c.707del; NP_003871.1:p.Ser236ThrfsTer51583586843817946
NM_198239.2:c.246delJordan; Saudi ArabiaNC_000006.12:g.112061188delPathogenicLikely Pathogenic, PathogenicProgressive Pseudorheumatoid DysplasiaNG_011748.1:g.12114del; NM_198239.2:c.246del; NP_937882.2:p.Glu84LysfsTer217970444386383
NM_198239.2:c.740_741delEgyptNC_000006.12:g.112068353GT[1]Likely Pathogenic, PathogenicLikely PathogenicProgressive Pseudorheumatoid DysplasiaNG_011748.1:g.19279GT[1]; NM_198239.2:c.740_741del; NP_937882.2:p.Cys247LeufsTer31727503755166615
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