COL5A2
entrez
1290
canonical
uniprot
P05997
canonical
ensembl
ENSG00000204262
resolver
ensp
ENSP00000364000
resolver
enst
ENST00000374866
resolver
genesymbol
COL5A2
resolver
hgnc
HGNC:2210
resolver
uniprot
P78440
resolver
uniprot
Q13908
resolver
uniprot
Q53WR4
resolver
uniprot
Q59GR4
resolver
uniprot
Q6LDJ5
resolver
uniprot
Q7KZ55
resolver
uniprot
Q86XF6
resolver
uniprot
Q96QB0
resolver
uniprot
Q96QB3
resolver
uniprot_entry
CO5A2_HUMAN
resolver
uniprot_sec
P78440
resolver
uniprot_sec
Q13908
resolver
uniprot_sec
Q53WR4
resolver
uniprot_sec
Q59GR4
resolver
uniprot_sec
Q6LDJ5
resolver
uniprot_sec
Q7KZ55
resolver
uniprot_sec
Q86XF6
resolver
uniprot_sec
Q96QB0
resolver
uniprot_sec
Q96QB3
resolver
amino_acid_sequence
MMANWAEARPLLILIVLLGQFVSIKAQEEDEDEGYGEEIACTQNGQMYLNRDIWKPAPCQICVCDNGAILCDKIECQDVLDCADPVTPPGECCPVCSQTPGGGNTNFGRGRKGQKGEPGLVPVVTGIRGRPGPAGPPGSQGPRGERGPKGRPGPRGPQGIDGEPGVPGQPGAPGPPGHPSHPGPDGLSRPFSAQMAGLDEKSGLGSQVGLMPGSVGPVGPRGPQGLQGQQGGAGPTGPPGEPGDPGPMGPIGSRGPEGPPGKPGEDGEPGRNGNPGEVGFAGSPGARGFPGAPGLPGLKGHRGHKGLEGPKGEVGAPGSKGEAGPTGPMGAMGPLGPRGMPGERGRLGPQGAPGQRGAHGMPGKPGPMGPLGIPGSSGFPGNPGMKGEAGPTGARGPEGPQGQRGETGPPGPVGSPGLPGAIGTDGTPGAKGPTGSPGTSGPPGSAGPPGSPGPQGSTGPQGIRGQPGDPGVPGFKGEAGPKGEPGPHGIQGPIGPPGEEGKRGPRGDPGTVGPPGPVGERGAPGNRGFPGSDGLPGPKGAQGERGPVGSSGPKGSQGDPGRPGEPGLPGARGLTGNPGVQGPEGKLGPLGAPGEDGRPGPPGSIGIRGQPGSMGLPGPKGSSGDPGKPGEAGNAGVPGQRGAPGKDGEVGPSGPVGPPGLAGERGEQGPPGPTGFQGLPGPPGPPGEGGKPGDQGVPGDPGAVGPLGPRGERGNPGERGEPGITGLPGEKGMAGGHGPDGPKGSPGPSGTPGDTGPPGLQGMPGERGIAGTPGPKGDRGGIGEKGAEGTAGNDGARGLPGPLGPPGPAGPTGEKGEPGPRGLVGPPGSRGNPGSRGENGPTGAVGFAGPQGPDGQPGVKGEPGEPGQKGDAGSPGPQGLAGSPGPHGPNGVPGLKGGRGTQGPPGATGFPGSAGRVGPPGPAGAPGPAGPLGEPGKEGPPGLRGDPGSHGRVGDRGPAGPPGGPGDKGDPGEDGQPGPDGPPGPAGTTGQRGIVGMPGQRGERGMPGLPGPAGTPGKVGPTGATGDKGPPGPVGPPGSNGPVGEPGPEGPAGNDGTPGRDGAVGERGDRGDPGPAGLPGSQGAPGTPGPVGAPGDAGQRGDPGSRGPIGPPGRAGKRGLPGPQGPRGDKGDHGDRGDRGQKGHRGFTGLQGLPGPPGPNGEQGSAGIPGPFGPRGPPGPVGPSGKEGNPGPLGPIGPPGVRGSVGEAGPEGPPGEPGPPGPPGPPGHLTAALGDIMGHYDESMPDPLPEFTEDQAAPDDKNKTDPGVHATLKSLSSQIETMRSPDGSKKHPARTCDDLKLCHSAKQSGEYWIDPNQGSVEDAIKVYCNMETGETCISANPSSVPRKTWWASKSPDNKPVWYGLDMNRGSQFAYGDHQSPNTAITQMTFLRLLSKEASQNITYICKNSVGYMDDQAKNLKKAVVLKGANDLDIKAEGNIRFRYIVLQDTCSKRNGNVGKTVFEYRTQNVARLPIIDLAPVDVGGTDQEFGVEIGPVCFV
uniprot
proteins
disease_involvement
DISEASE: Ehlers-Danlos syndrome, classic type, 2 (EDSCL2) [MIM:130010]: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are joint hypermobility and dislocation, and fragile, bruisable skin. EDSCL2 inheritance is autosomal dominant. {ECO:0000269|PubMed:27656288, ECO:0000269|PubMed:9425231, ECO:0000269|PubMed:9783710}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin. Type V collagen is a key determinant in the assembly of tissue-specific matrices (By similarity). {ECO:0000250}.
uniprot
proteins
mass_dalton
144910
uniprot
proteins
post_translational_modification
PTM: Prolines at the third position of the tripeptide repeating unit (G-X-P) are hydroxylated in some or all of the chains. Probably 3-hydroxylated on Pro-919 and Pro-1156 by LEPREL1. {ECO:0000269|PubMed:21757687, ECO:0000269|PubMed:8181482}.
uniprot
proteins
protein_family
Fibrillar collagen family
uniprot
proteins
pubmed
11566270
uniprot
proteins
pubmed
11940702
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1571108
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
1820205
uniprot
proteins
pubmed
21757687
uniprot
proteins
pubmed
2411731
uniprot
proteins
pubmed
27656288
uniprot
proteins
pubmed
2914927
uniprot
proteins
pubmed
2985598
uniprot
proteins
pubmed
3029669
uniprot
proteins
pubmed
3224983
uniprot
proteins
pubmed
3858826
uniprot
proteins
pubmed
8181482
uniprot
proteins
pubmed
9425231
uniprot
proteins
pubmed
9783710
uniprot
proteins
sequence_length
1499
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000255|PROSITE-ProRule:PRU00793}.
uniprot
proteins