CCN2
entrez
1490
canonical
uniprot
P29279
canonical
ensembl
ENSG00000118523
resolver
ensp
ENSP00000356954
resolver
genesymbol
CCN2
resolver
genesymbol
CTGF
resolver
genesymbol_syn
CTGF
resolver
genesymbol_syn
HCS24
resolver
genesymbol_syn
IGFBP8
resolver
hgnc
HGNC:2500
resolver
uniprot
E1P578
resolver
uniprot
Q5M8T4
resolver
uniprot
Q6LCY0
resolver
uniprot
Q96A79
resolver
uniprot
Q96QX2
resolver
uniprot
Q9UDL6
resolver
uniprot_entry
CCN2_HUMAN
resolver
uniprot_entry
Q5M8T4_HUMAN
resolver
uniprot_sec
E1P578
resolver
uniprot_sec
Q6LCY0
resolver
uniprot_sec
Q96A79
resolver
uniprot_sec
Q96QX2
resolver
uniprot_sec
Q9UDL6
resolver
amino_acid_sequence
MTAASMGPVRVAFVVLLALCSRPAVGQNCSGPCRCPDEPAPRCPAGVSLVLDGCGCCRVCAKQLGELCTERDPCDPHKGLFCHFGSPANRKIGVCTAKDGAPCIFGGTVYRSGESFQSSCKYQCTCLDGAVGCMPLCSMDVRLPSPDCPFPRRVKLPGKCCEEWVCDEPKDQTVVGPALAAYRLEDTFGPDPTMIRANCLVQTTEWSACSKTCGMGISTRVTNDNASCRLEKQSRLCMVRPCEADLEENIKKGKKCIRTPKISKPIKFELSGCTSMKTYRAKFCGVCTDGRCCTPHRTTTLPVEFKCPDGEVMKKNMMFIKTCACHYNCPGDNDIFESLYYRKMYGDMA
uniprot
proteins
disease_involvement
DISEASE: Kyphomelic dysplasia (KMD) [MIM:211350]: An autosomal recessive skeletal dysplasia characterized by bowing of the limbs primarily affecting the femora, along with short stature, short and wide iliac wings, horizontal acetabular roof, platyspondyly, metaphyseal flaring and distinctive facial features that include prominent forehead, micrognathia, microstomia, cleft palate and low set ears. {ECO:0000269|PubMed:39506047}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Spondyloepimetaphyseal dysplasia, Li-Shao-Li type (SEMDLSL) [MIM:621099]: A form of spondyloepimetaphyseal dysplasia, a clinically and genetically heterogeneous group of skeletal disorders marked by vertebral, epiphyseal, and metaphyseal abnormalities. SEMDLSL is an autosomal dominant form characterized by childhood onset of defective skeletal development. Affected individuals exhibit disproportionate short stature, short lower limbs, limited joint flexion, premature osteoarthritis-like changes in weight-bearing joints, and low bone mass. {ECO:0000269|PubMed:39414788}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Major connective tissue mitoattractant secreted by vascular endothelial cells. Promotes proliferation and differentiation of chondrocytes. Is involved in the stimulation of osteoblast differentiation and has a critical role in osteogenesis (PubMed:39414788). Mediates heparin- and divalent cation-dependent cell adhesion in many cell types including fibroblasts, myofibroblasts, endothelial and epithelial cells. Enhances fibroblast growth factor-induced DNA synthesis. {ECO:0000269|PubMed:10614647, ECO:0000269|PubMed:12553878, ECO:0000269|PubMed:39414788}.
uniprot
proteins
mass_dalton
38091
uniprot
proteins
protein_family
CCN family
uniprot
proteins
pubmed
10614647
uniprot
proteins
pubmed
12553878
uniprot
proteins
pubmed
1293144
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
1654338
uniprot
proteins
pubmed
1756408
uniprot
proteins
pubmed
30232710
uniprot
proteins
pubmed
39414788
uniprot
proteins
pubmed
39506047
uniprot
proteins
pubmed
9054739
uniprot
proteins
sequence_length
349
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250|UniProtKB:P29268}. Secreted {ECO:0000269|PubMed:39414788}.
uniprot
proteins