CCN6
entrez
8838
canonical
uniprot
O95389
canonical
ensembl
ENSG00000112761
resolver
ensp
ENSP00000230529
resolver
ensp
ENSP00000357655
resolver
genesymbol
CCN6
resolver
genesymbol
WISP3
resolver
genesymbol_syn
WISP3
resolver
hgnc
HGNC:12771
resolver
uniprot
A0A384NYW3
resolver
uniprot
I6L968
resolver
uniprot
Q3KR29
resolver
uniprot
Q5H8W4
resolver
uniprot
Q6UXH6
resolver
uniprot_entry
A0A384NYW3_HUMAN
resolver
uniprot_entry
CCN6_HUMAN
resolver
uniprot_entry
I6L968_HUMAN
resolver
uniprot_sec
Q3KR29
resolver
uniprot_sec
Q5H8W4
resolver
uniprot_sec
Q6UXH6
resolver
amino_acid_sequence
MQGLLFSTLLLAGLAQFCCRVQGTGPLDTTPEGRPGEVSDAPQRKQFCHWPCKCPQQKPRCPPGVSLVRDGCGCCKICAKQPGEICNEADLCDPHKGLYCDYSVDRPRYETGVCAYLVAVGCEFNQVHYHNGQVFQPNPLFSCLCVSGAIGCTPLFIPKLAGSHCSGAKGGKKSDQSNCSLEPLLQQLSTSYKTMPAYRNLPLIWKKKCLVQATKWTPCSRTCGMGISNRVTNENSNCEMRKEKRLCYIQPCDSNILKTIKIPKGKTCQPTFQLSKAEKFVFSGCSSTQSYKPTFCGICLDKRCCIPNKSKMITIQFDCPNEGSFKWKMLWITSCVCQRNCREPGDIFSELKIL
uniprot
proteins
disease_involvement
DISEASE: Progressive pseudorheumatoid dysplasia (PPRD) [MIM:208230]: An autosomal recessive disorder characterized by stiffness and swelling of joints, motor weakness and joint contractures. Signs and symptoms of the disease develop typically between three and eight years of age. This progressive disease is a primary disorder of articular cartilage with continued cartilage loss and destructive bone changes with aging. {ECO:0000269|PubMed:10471507, ECO:0000269|PubMed:16152649, ECO:0000269|PubMed:19064006, ECO:0000269|PubMed:22685593, ECO:0000269|PubMed:22987568, ECO:0000269|PubMed:25738435, ECO:0000269|PubMed:25794430, ECO:0000269|PubMed:25988854, ECO:0000269|PubMed:27436824, ECO:0000269|PubMed:29092958}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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, PubMed:27252383). {ECO:0000269|PubMed:10471507, ECO:0000269|PubMed:27252383}.
uniprot
proteins
mass_dalton
39293
uniprot
proteins
protein_family
CCN family
uniprot
proteins
pubmed
10471507
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16152649
uniprot
proteins
pubmed
19064006
uniprot
proteins
pubmed
22685593
uniprot
proteins
pubmed
22987568
uniprot
proteins
pubmed
25738435
uniprot
proteins
pubmed
25794430
uniprot
proteins
pubmed
25988854
uniprot
proteins
pubmed
27252383
uniprot
proteins
pubmed
27436824
uniprot
proteins
pubmed
29092958
uniprot
proteins
pubmed
9843955
uniprot
proteins
sequence_length
354
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:27252383}. Mitochondrion {ECO:0000269|PubMed:27252383}. Note=Associated with membranes. {ECO:0000269|PubMed:27252383}.
uniprot
proteins