COL6A2
entrez
1292
canonical
uniprot
P12110
canonical
ensembl
ENSG00000142173
resolver
ensp
ENSP00000300527
resolver
ensp
ENSP00000380870
resolver
ensp
ENSP00000387115
resolver
genesymbol
COL6A2
resolver
hgnc
HGNC:2212
resolver
uniprot
A0A384MDP3
resolver
uniprot
Q13909
resolver
uniprot
Q13910
resolver
uniprot
Q13911
resolver
uniprot
Q14048
resolver
uniprot
Q14049
resolver
uniprot
Q16259
resolver
uniprot
Q16597
resolver
uniprot
Q6P0Q1
resolver
uniprot
Q9UML3
resolver
uniprot
Q9Y4S8
resolver
uniprot_entry
A0A384MDP3_HUMAN
resolver
uniprot_entry
CO6A2_HUMAN
resolver
uniprot_sec
Q13909
resolver
uniprot_sec
Q13910
resolver
uniprot_sec
Q13911
resolver
uniprot_sec
Q14048
resolver
uniprot_sec
Q14049
resolver
uniprot_sec
Q16259
resolver
uniprot_sec
Q16597
resolver
uniprot_sec
Q6P0Q1
resolver
uniprot_sec
Q9UML3
resolver
uniprot_sec
Q9Y4S8
resolver
amino_acid_sequence
MLQGTCSVLLLWGILGAIQAQQQEVISPDTTERNNNCPEKTDCPIHVYFVLDTSESVTMQSPTDILLFHMKQFVPQFISQLQNEFYLDQVALSWRYGGLHFSDQVEVFSPPGSDRASFIKNLQGISSFRRGTFTDCALANMTEQIRQDRSKGTVHFAVVITDGHVTGSPCGGIKLQAERAREEGIRLFAVAPNQNLKEQGLRDIASTPHELYRNDYATMLPDSTEIDQDTINRIIKVMKHEAYGECYKVSCLEIPGPSGPKGYRGQKGAKGNMGEPGEPGQKGRQGDPGIEGPIGFPGPKGVPGFKGEKGEFGADGRKGAPGLAGKNGTDGQKGKLGRIGPPGCKGDPGNRGPDGYPGEAGSPGERGDQGGKGDPGRPGRRGPPGEIGAKGSKGYQGNSGAPGSPGVKGAKGGPGPRGPKGEPGRRGDPGTKGSPGSDGPKGEKGDPGPEGPRGLAGEVGNKGAKGDRGLPGPRGPQGALGEPGKQGSRGDPGDAGPRGDSGQPGPKGDPGRPGFSYPGPRGAPGEKGEPGPRGPEGGRGDFGLKGEPGRKGEKGEPADPGPPGEPGPRGPRGVPGPEGEPGPPGDPGLTECDVMTYVRETCGCCDCEKRCGALDVVFVIDSSESIGYTNFTLEKNFVINVVNRLGAIAKDPKSETGTRVGVVQYSHEGTFEAIQLDDERIDSLSSFKEAVKNLEWIAGGTWTPSALKFAYDRLIKESRRQKTRVFAVVITDGRHDPRDDDLNLRALCDRDVTVTAIGIGDMFHEKHESENLYSIACDKPQQVRNMTLFSDLVAEKFIDDMEDVLCPDPQIVCPDLPCQTELSVAQCTQRPVDIVFLLDGSERLGEQNFHKARRFVEQVARRLTLARRDDDPLNARVALLQFGGPGEQQVAFPLSHNLTAIHEALETTQYLNSFSHVGAGVVHAINAIVRSPRGGARRHAELSFVFLTDGVTGNDSLHESAHSMRKQNVVPTVLALGSDVDMDVLTTLSLGDRAAVFHEKDYDSLAQPGFFDRFIRWIC
uniprot
proteins
disease_involvement
DISEASE: Bethlem myopathy 1B (BTHLM1B) [MIM:620725]: A form of Bethlem myopathy, a slowly progressive muscular dystrophy characterized by joint contractures, most frequently affecting the elbows and ankles, and muscle weakness and wasting involving the proximal and extensor muscles more than the distal and flexor ones. The clinical onset more often occurs in childhood or adulthood, but it can be prenatal with decreased fetal movements or neonatal with hypotonia. The hallmark of Bethlem myopathy is long finger flexion contractures. Inheritance can be autosomal dominant or autosomal recessive. {ECO:0000269|PubMed:11865138, ECO:0000269|PubMed:15689448, ECO:0000269|PubMed:17886299, ECO:0000269|PubMed:8782832}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Ullrich congenital muscular dystrophy 1B (UCMD1B) [MIM:620727]: A form of Ullrich congenital muscular dystrophy, a disease characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis (rough skin). More severely affected patients manifest at birth and never achieve independent ambulation, while patients with milder phenotypes might maintain ambulation into adulthood. Inheritance can be autosomal dominant or autosomal recessive. {ECO:0000269|PubMed:15563506, ECO:0000269|PubMed:15689448}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Myosclerosis autosomal recessive (MYOSAR) [MIM:255600]: A condition characterized by chronic inflammation of skeletal muscle with hyperplasia of the interstitial connective tissue. The clinical picture includes slender muscles with firm 'woody' consistency and restriction of movement of many joints because of muscle contractures. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Collagen VI acts as a cell-binding protein.
uniprot
proteins
mass_dalton
108579
uniprot
proteins
post_translational_modification
PTM: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
uniprot
proteins
protein_family
Type VI collagen family
uniprot
proteins
pubmed
11865138
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1556127
uniprot
proteins
pubmed
15563506
uniprot
proteins
pubmed
15689448
uniprot
proteins
pubmed
1690728
uniprot
proteins
pubmed
1765372
uniprot
proteins
pubmed
17886299
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18852439
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
22905912
uniprot
proteins
pubmed
23040494
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2551668
uniprot
proteins
pubmed
27535533
uniprot
proteins
pubmed
3198591
uniprot
proteins
pubmed
3348212
uniprot
proteins
pubmed
3665927
uniprot
proteins
pubmed
6852033
uniprot
proteins
pubmed
8168508
uniprot
proteins
pubmed
8305732
uniprot
proteins
pubmed
8782832
uniprot
proteins
pubmed
9099729
uniprot
proteins
sequence_length
1019
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:8305732}. Membrane {ECO:0000269|PubMed:8305732}; Peripheral membrane protein {ECO:0000269|PubMed:8305732}. Note=Recruited on membranes by CSPG4.
uniprot
proteins