|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Dermatosparaxis
Ehlers-Danlos syndrome
Osteogenesis imperfecta
|
|
gptkbp:component
|
extracellular region
|
|
gptkbp:discoveredBy
|
collagen research community
|
|
gptkbp:encodes
|
collagen alpha-2(I) chain
|
|
gptkbp:Entrez_Gene_ID
|
1278
ENSG00000164692
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
|
|
gptkbp:fullName
|
gptkb:collagen_type_I_alpha_2_chain
|
|
gptkbp:function
|
forms type I collagen fibrils
extracellular matrix structural constituent
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:GOProcess
|
collagen fibril organization
|
|
gptkbp:hasPseudogene
|
yes
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:2194
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
COL1A2
|
|
gptkbp:interactsWith
|
gptkb:integrins
gptkb:fibronectin
gptkb:COL1A1
gptkb:COL3A1
gptkb:decorin
|
|
gptkbp:length
|
1366 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_7
7q21.3-q22.1
|
|
gptkbp:molecularWeight
|
129 kDa
|
|
gptkbp:mutationAssociatedWith
|
connective tissue disorders
|
|
gptkbp:OMIM
|
120160
|
|
gptkbp:orthologInChicken
|
gptkb:COL1A2
|
|
gptkbp:orthologInChimpanzee
|
gptkb:COL1A2
|
|
gptkbp:orthologInCow
|
gptkb:COL1A2
|
|
gptkbp:orthologInDog
|
gptkb:COL1A2
|
|
gptkbp:orthologInMouse
|
gptkb:Col1a2
|
|
gptkbp:orthologInZebrafish
|
col1a2
|
|
gptkbp:pathway
|
gptkb:ECM-receptor_interaction
gptkb:Focal_adhesion
gptkb:PI3K-Akt_signaling_pathway
|
|
gptkbp:postTranslationalModification
|
glycosylation
disulfide bond formation
hydroxylation
|
|
gptkbp:product
|
triple helix
|
|
gptkbp:proteinFamily
|
collagen family
collagen triple helix repeat
|
|
gptkbp:proteinSecretion
|
yes
|
|
gptkbp:UniProtID
|
gptkb:P08123
|
|
gptkbp:bfsParent
|
gptkb:chromosome_7
|
|
gptkbp:bfsLayer
|
6
|