1. Gene
  2. CCN6 - cellular communication network factor 6 Gene

CCN6 - cellular communication network factor 6 Gene

Homo sapiens

Also known as PPD; LIBC; PPAC; PPRD; WISP3; WISP-3

Gene ID: 8838 | Gene type: protein coding

About CCN6

Cytogenetic location: 6q21 Genomic coordinates (GRCh38): 6:112,052,813-112,069,686 (from NCBI)

This gene has 9 transcripts (splice variants), 203 orthologues, 5 paralogues and is associated with 2 phenotypes. Biased expression in testis (RPKM 1.0), skin (RPKM 0.5) and 4 other tissues.

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 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]

CCN6 Products(2)

mRNA Protein Name
NM_003880.4 NP_003871.1 cellular communication network factor 6 isoform 1 precursor
NM_198239.2 NP_937882.2 cellular communication network factor 6 isoform 1 precursor

CCN6 Protein Structure

IGFBP

IGFBP: Insulin-like growth factor binding protein (48 - 100)

TSP_1

TSP_1: Thrombospondin type 1 domain (213 - 252)

Cys_knot

Cys_knot: Cystine-knot domain (266 - 348)

  • 0
  • 100
  • 200
  • 300
  • 354 a.a.
Protein Preferred Names Protein Names

cellular communication network factor 6

CCN family member 6

Related Diseases

Diseases Alias
Progressive Pseudorheumatoid Dysplasia

Progressive Pseudorheumatoid Arthropathy Of Childhood

Arthropathy, Progressive Pseudorheumatoid, Of Childhood

Spondyloepiphyseal Dysplasia Tarda With Progressive Arthropathy

Ppd

Ppac

Sedt-Pa

Spondyloepiphyseal Dysplasia Tarda-Progressive Arthropathy Syndrome

PPRD

Progressive Pseudorheumatoid Chondrodysplasia

Spondyloepiphyseal Dysplasia Tarda - Progressive Arthropathy

Spondyloepiphyseal Dysplasia Tarda With Progressive Arthropathy

Dysplasia, Pseudorheumatoid, Progressive

Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive

Autosomal Recessive Spondyloepiphyseal Dysplasia Tarda

Inflammatory Breast Carcinoma

Inflammatory Breast Cancer

Inflammatory Carcinoma Of Breast

Mastitis Carcinomatosa

Breast Cancer, Inflammatory

Inflammatory Breast Neoplasms

Inflammatory Adenocarcinoma Of Breast

Arthropathy

Ankylosis Of Ankle And Foot Joint

Ankylosis Of Forearm Joint

Ankylosis Of Hand Joint

Ankylosis Of Joint Of Ankle And/Or Foot

Ankylosis Of Joint Of Forearm

Ankylosis Of Joint Of Hand

Ankylosis Of Joint Of Lower Leg

Ankylosis Of Joint Of Multiple Sites

Ankylosis Of Joint Of Pelvic Region And Thigh

Ankylosis Of Joint Of Shoulder Region

Ankylosis Of Joint Of Upper Arm

Ankylosis Of Lower Leg Joint

Ankylosis Of Multiple Joints

Ankylosis Of Upper Arm Joint

Infectious Arthropathy

Joint Ankylosis Of The Ankle And Foot

Joint Ankylosis Of The Ankle And/Or Foot

Joint Ankylosis Of The Forearm

Joint Ankylosis Of The Hand

Joint Ankylosis Of The Lower Leg

Joint Ankylosis Of The Pelvic Region And Thigh

Joint Ankylosis Of The Shoulder Region

Joint Ankylosis Of The Upper Arm

Joint Diseases

Joint Disease

Arthropathy Associated With Infection

Bladder Transitional Cell Papilloma

Bladder Papilloma

Transitional Cell Papilloma Of Bladder

Urinary Bladder Urothelial Papilloma

Urothelial Papilloma

Bladder Urothelial Papilloma

Wilms Tumor 5

Wilms Tumor

WT5

Wilms Tumor Susceptibility-5

Wilms Tumor And Radial Bilateral Aplasia

Nephroblastoma

Wilms' Tumor

Wilms Tumor, Susceptibility To

Wtsl

Bilateral Radial Aplasia With Wilms Tumor

Embryonal Adenosarcoma

Embryonal Nephroma

Kidney Wilms Tumor

Kidney, Adenomyosarcoma, Embryonal

Kidney, Carcinosarcoma, Embryonal

Kidney, Embryoma

Kidney, Embryonal Mixed Tumor

Nephroma

Renal Adenosarcoma

Renal Cancer, Wilms

Renal Wilms Tumor

Tumor, Wilms

Hereditary Susceptibility To Wilms Tumor 5

Primary Hypertrophic Osteoarthropathy

Pachydermoperiostosis Syndrome

Osteoarthropathy, Primary Hypertrophic

Pachydermoperiostosis Of Nail

Idiopathic Hypertrophic Osteoarthropathy

Pho

Bladder Papillary Transitional Cell Neoplasm

Urinary Bladder Papillary Urothelial Neoplasm

Bladder Papillary Urothelial Neoplasm

Urinary Tract Papillary Transitional Cell Benign Neoplasm

Inverted Papilloma Of Urinary Tract

Papillary Transitional Cell Neoplasm Of The Urinary Tract

Urinary Tract Inverted Papilloma

Inverted Urothelial Papilloma

Scoliosis
Osteochondrodysplasia

Skeletal Dysplasia

Chondrodystrophy

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus CCN6 RGD RGD:1564120
Canis familiaris CCN6 VGNC VGNC:48416
Bos taurus CCN6 VGNC VGNC:36946
Felis catus CCN6 VGNC VGNC:60549
Macaca mulatta CCN6 VGNC VGNC:70707
Mus musculus CCN6 MGD MGI:2685581