CCN6 (cellular communication network factor 6)

Gene

• Entrez ID: 8838
• Gene name: Cellular communication network factor 6
• Gene symbol: CCN6
• Synonyms: LIBC, PPAC, PPD, PPRD, WISP-3, WISP3
• Chromosome: 6
• Chromosome location: 6q21
• 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 di

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908899	G>A,C	Pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, missense variant, coding sequence variant
rs121908900	G>A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs121908901	C>A,T	Pathogenic	Non coding transcript variant, upstream transcript variant, synonymous variant, genic upstream transcript variant, stop gained, coding sequence variant
rs121908902	T>C	Pathogenic	Non coding transcript variant, upstream transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs121908903	T>C	Pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs727503755	GT>-	Pathogenic-likely-pathogenic	Downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs781838640	AG>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs781986930	G>A,C	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs797044438	A>-	Pathogenic	Coding sequence variant, frameshift variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant
rs797044439	->T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs797044440	T>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs863223286	->AC	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs879255273	G>A	Pathogenic	Intron variant, splice donor variant
rs1554311394	GC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554313639	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs1554314738	->C	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1562595388	G>A	Pathogenic	Coding sequence variant, upstream transcript variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs1562599153	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant, downstream transcript variant
rs1583586843	G>-	Pathogenic	Downstream transcript variant, frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005178	Function	Integrin binding	IBA	21873635
GO:0005520	Function	Insulin-like growth factor binding	IEA
GO:0005615	Component	Extracellular space	IDA	27252383
GO:0005615	Component	Extracellular space	NAS	9843955
GO:0005739	Component	Mitochondrion	IDA	27252383
GO:0007155	Process	Cell adhesion	IBA	21873635
GO:0007165	Process	Signal transduction	IBA	21873635
GO:0007267	Process	Cell-cell signaling	TAS	9843955
GO:0008083	Function	Growth factor activity	IEA
GO:0008201	Function	Heparin binding	IBA	21873635
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	12082632
GO:0016525	Process	Negative regulation of angiogenesis	IDA	12082632
GO:0031012	Component	Extracellular matrix	IBA	21873635
GO:0051881	Process	Regulation of mitochondrial membrane potential	IMP	27252383
GO:0060548	Process	Negative regulation of cell death	IBA	21873635
GO:1903426	Process	Regulation of reactive oxygen species biosynthetic process	IMP	27252383

Other IDs

• MIM: 603400
• HGNC: 12771
• e!Ensembl: ENSG00000112761

Protein

• UniProt ID: O95389
• Protein name: Cellular communication network factor 6 (CCN family member 6) (WNT1-inducible-signaling pathway protein 3) (WISP-3)
• Protein function: Plays a role in mitochondrial electron transport and mitochondrial respiration (PubMed:27252383). Through its regulation of the mitochondrial function may play a role in normal postnatal skeletal growth and cartilage homeostasis (PubMed:10471507
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00219	IGFBP	48 → 100	Insulin-like growth factor binding protein	Domain
  PF19035	TSP1_CCN	209 → 252	CCN3 Nov like TSP1 domain	Domain
  PF00007	Cys_knot	265 → 353	Cystine-knot domain	Domain

• Sequence:

  MQGLLFSTLLLAGLAQFCCRVQGTGPLDTTPEGRPGEVSDAPQRKQFCHWPCKCPQQKPR
  CPPGVSLVRDGCGCCKICAKQPGEICNEADLCDPHKGLYCDYSVDRPRYETGVCAYLVAV
  GCEFNQVHYHNGQVFQPNPLFSCLCVSGAIGCTPLFIPKLAGSHCSGAKGGKKSDQSNCS
  LEPLLQQLSTSYKTMPAYRNLPLIWKKKCLVQATKWTPCSRTCGMGISNRVTNENSNCEM
  RKEKRLCYIQPCDSNILKTIKIPKGKTCQPTFQLSKAEKFVFSGCSSTQSYKPTFCGICL
  DKRCCIPNKSKMITIQFDCPNEGSFKWKMLWITSCVCQRNCREPGDIFSELKIL

• Sequence length: 354

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Progressive pseudorheumatoid dysplasia	Progressive pseudorheumatoid dysplasia	rs121908900, rs121908901, rs121908902, rs797044438, rs797044439, rs863223286, rs1554311394, rs121908903, rs797044440, rs727503755, rs879255273, rs781838640, rs781986930, rs1562599153, rs1554313639, rs1583586843, rs1776805400	10471507, 27436824, 25794430, 12819927, 22987568, 16152649, 22685593, 19064006, 25988854, 22791401, 25738435, 29092958, 23270760
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease name	Disease term	dbSNP ID	References
Acquired kyphoscoliosis	Acquired Kyphoscoliosis
Arthropathy	Arthropathy
Congenital kyphoscoliosis	Congenital kyphoscoliosis
Dwarfism	Dwarfism
Movement disorders	Movement Disorders		29092958, 22987568, 23270760, 22791401, 25988854
Pseudorheumatoid arthropath	Progressive pseudorheumatoid arthropathy of childhood