PLOD2
entrez
5352
canonical
uniprot
O00469
canonical
ensembl
ENSG00000152952
resolver
ensp
ENSP00000282903
resolver
ensp
ENSP00000353170
resolver
ensp
ENSP00000515351
resolver
enst
ENST00000703520
resolver
genesymbol
PLOD2
resolver
hgnc
HGNC:9082
resolver
uniprot
A0A994J6S5
resolver
uniprot
B3KWS3
resolver
uniprot
Q59ED2
resolver
uniprot
Q8N170
resolver
uniprot_entry
A0A994J6S5_HUMAN
resolver
uniprot_entry
PLOD2_HUMAN
resolver
uniprot_sec
B3KWS3
resolver
uniprot_sec
Q59ED2
resolver
uniprot_sec
Q8N170
resolver
amino_acid_sequence
MGGCTVKPQLLLLALVLHPWNPCLGADSEKPSSIPTDKLLVITVATKESDGFHRFMQSAKYFNYTVKVLGQGEEWRGGDGINSIGGGQKVRLMKEVMEHYADQDDLVVMFTECFDVIFAGGPEEVLKKFQKANHKVVFAADGILWPDKRLADKYPVVHIGKRYLNSGGFIGYAPYVNRIVQQWNLQDNDDDQLFYTKVYIDPLKREAINITLDHKCKIFQTLNGAVDEVVLKFENGKARAKNTFYETLPVAINGNGPTKILLNYFGNYVPNSWTQDNGCTLCEFDTVDLSAVDVHPNVSIGVFIEQPTPFLPRFLDILLTLDYPKEALKLFIHNKEVYHEKDIKVFFDKAKHEIKTIKIVGPEENLSQAEARNMGMDFCRQDEKCDYYFSVDADVVLTNPRTLKILIEQNRKIIAPLVTRHGKLWSNFWGALSPDGYYARSEDYVDIVQGNRVGVWNVPYMANVYLIKGKTLRSEMNERNYFVRDKLDPDMALCRNAREMGVFMYISNRHEFGRLLSTANYNTSHYNNDLWQIFENPVDWKEKYINRDYSKIFTENIVEQPCPDVFWFPIFSEKACDELVEEMEHYGKWSGGKHHDSRISGGYENVPTDDIHMKQVDLENVWLHFIREFIAPVTLKVFAGYYTKGFALLNFVVKYSPERQRSLRPHHDASTFTINIALNNVGEDFQGGGCKFLRYNCSIESPRKGWSFMHPGRLTHLHEGLPVKNGTRYIAVSFIDP
uniprot
proteins
disease_involvement
DISEASE: Bruck syndrome 2 (BRKS2) [MIM:609220]: An autosomal recessive disease characterized by generalized osteopenia, congenital joint contractures, fragile bones with onset of fractures in infancy or early childhood, short stature, severe limb deformity, progressive scoliosis, and pterygia. It is distinguished from osteogenesis imperfecta by the absence of hearing loss and dentinogenesis imperfecta, and by the presence of clubfoot and congenital joint limitations. {ECO:0000269|PubMed:12881513, ECO:0000269|PubMed:15523624, ECO:0000269|PubMed:22689593, ECO:0000269|PubMed:29177700, ECO:0000269|PubMed:29178448, ECO:0000269|PubMed:31472299, ECO:0000269|PubMed:35601416, ECO:0000269|PubMed:39769143}. Note=The disease is caused by variants affecting the gene represented in this entry. The molecular defect leading to Bruck syndrome is an aberrant cross-linking of bone collagen, due to underhydroxylation of lysine residues within the telopeptides of type I collagen, whereas the lysine residues in the triple helix are normal.
uniprot
proteins
ec_number
1.14.11.4
uniprot
proteins
function
FUNCTION: Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links. {ECO:0000250|UniProtKB:P24802}.
uniprot
proteins
mass_dalton
84686
uniprot
proteins
pubmed
10372558
uniprot
proteins
pubmed
12881513
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15523624
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
18088087
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22689593
uniprot
proteins
pubmed
29177700
uniprot
proteins
pubmed
29178448
uniprot
proteins
pubmed
29983323
uniprot
proteins
pubmed
31472299
uniprot
proteins
pubmed
35601416
uniprot
proteins
pubmed
39769143
uniprot
proteins
pubmed
9054364
uniprot
proteins
sequence_length
737
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Rough endoplasmic reticulum membrane {ECO:0000269|PubMed:35601416, ECO:0000269|PubMed:39769143}; Peripheral membrane protein; Lumenal side. Cytoplasm {ECO:0000269|PubMed:35601416, ECO:0000269|PubMed:39769143}.
uniprot
proteins