|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeSplicing
|
Yes
|
|
gptkbp:associatedWith
|
gptkb:Dermatosparaxis
Ehlers-Danlos syndrome
Osteogenesis imperfecta
|
|
gptkbp:biologicalProcess
|
collagen fibril organization
extracellular matrix structural constituent
|
|
gptkbp:cellularComponent
|
extracellular region
|
|
gptkbp:disorder_association
|
Cardiac valvular form of Ehlers-Danlos syndrome
Ehlers-Danlos syndrome type VII
Osteogenesis imperfecta type I-IV
|
|
gptkbp:disulfideBond
|
Yes
|
|
gptkbp:domain
|
collagen triple helix repeat
C-terminal propeptide
|
|
gptkbp:Entrez_Gene_ID
|
1278
ENSP00000360232
|
|
gptkbp:function
|
Structural component of type I collagen fibrils
|
|
gptkbp:gene
|
gptkb:COL1A2
|
|
gptkbp:hasIsoform
|
2
|
|
gptkbp:HGNC_ID
|
2215
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
P02461
|
|
gptkbp:InterPro
|
IPR002177
IPR008160
|
|
gptkbp:KEGGID
|
hsa:1278
|
|
gptkbp:locatedOnChromosome
|
7q21.3-q22.1
|
|
gptkbp:molecularWeight
|
129.4 kDa
|
|
gptkbp:OMIM
|
120160
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
mouse Col1a2
rat Col1a2
zebrafish col1a2
|
|
gptkbp:PDB
|
1Y0F
3HQV
|
|
gptkbp:postTranslationalModification
|
Glycosylation
Hydroxylation
|
|
gptkbp:protein_name
|
Collagen alpha-2(I) chain
|
|
gptkbp:proteinFamily
|
collagen family
PF01391
PF01410
|
|
gptkbp:RefSeq
|
NP_000080.2
|
|
gptkbp:sequence
|
1366
|
|
gptkbp:sequenceStatus
|
Reviewed
|
|
gptkbp:signalPeptide
|
Yes
|
|
gptkbp:subcellularLocation
|
Secreted, extracellular matrix
|
|
gptkbp:tissue_specificity
|
Widely expressed, especially in bone, skin, and tendon
|
|
gptkbp:UniProt_entry_name
|
CO1A2_HUMAN
|
|
gptkbp:UniProtID
|
gptkb:P02461
|
|
gptkbp:bfsParent
|
gptkb:COL3A1_gene
gptkb:COL3A1
|
|
gptkbp:bfsLayer
|
7
|