|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Stickler_syndrome
gptkb:achondrogenesis_type_II
gptkb:hypochondrogenesis
gptkb:Kniest_dysplasia
osteoarthritis
spondyloepiphyseal dysplasia congenita
|
|
gptkbp:biologicalProcess
|
extracellular matrix structural constituent
|
|
gptkbp:discoveredBy
|
gptkb:Richard_Mayne
|
|
gptkbp:discoveredIn
|
1982
|
|
gptkbp:encodes
|
collagen alpha-1(II) chain
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000139219
1280
|
|
gptkbp:expressedIn
|
collagen
|
|
gptkbp:fullName
|
gptkb:collagen_type_II_alpha_1_chain
|
|
gptkbp:function
|
structural component of cartilage
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:GOID
|
GO:0005581
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:2200
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
COL2A1
|
|
gptkbp:length
|
54,363 bp
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_12
|
|
gptkbp:numberOfExons
|
54
|
|
gptkbp:OMIM
|
120140
|
|
gptkbp:orthologInMouse
|
gptkb:Col2a1
|
|
gptkbp:orthologInZebrafish
|
gptkb:col2a1a
col2a1b
|
|
gptkbp:proteinFamily
|
collagen family
|
|
gptkbp:UniProtID
|
gptkb:P02458
|
|
gptkbp:bfsParent
|
gptkb:SOX5
gptkb:SOX6
gptkb:SOX9
gptkb:COL2A1_gene
|
|
gptkbp:bfsLayer
|
7
|