|
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:clinicalTrialPhase
|
available
|
|
gptkbp:discoveredBy
|
gptkb:Richard_Mayne
|
|
gptkbp:encodes
|
gptkb:collagen_type_II_alpha_1_chain
|
|
gptkbp:Entrez_Gene_ID
|
1280
|
|
gptkbp:expressedIn
|
collagen
|
|
gptkbp:fullName
|
gptkb:collagen_type_II_alpha_1_chain
|
|
gptkbp:function
|
encodes the major collagen of cartilage
|
|
gptkbp:gene
|
gptkb:COL2A1
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:2200
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
COL2A1 gene
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:involvedIn
|
extracellular matrix organization
cartilage development
|
|
gptkbp:length
|
1487 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_12
12q13.11-q13.2
|
|
gptkbp:mutationAssociatedWith
|
nonsense
deletion
missense
duplication
skeletal dysplasia
splice-site
|
|
gptkbp:OMIM
|
120140
|
|
gptkbp:orthologInChicken
|
gptkb:COL2A1
|
|
gptkbp:orthologInCow
|
gptkb:COL2A1
|
|
gptkbp:orthologInDog
|
gptkb:COL2A1
|
|
gptkbp:orthologInFrog
|
col2a1
|
|
gptkbp:orthologInMouse
|
gptkb:Col2a1
|
|
gptkbp:orthologInZebrafish
|
gptkb:col2a1a
|
|
gptkbp:pathway
|
gptkb:ECM-receptor_interaction
collagen biosynthesis
focal adhesion
protein digestion and absorption
|
|
gptkbp:product
|
triple helix
|
|
gptkbp:proteinFamily
|
collagen family
fibrillar collagen
|
|
gptkbp:referenceGenome
|
gptkb:NM_001844.4
|
|
gptkbp:UniProtID
|
gptkb:P02458
|
|
gptkbp:bfsParent
|
gptkb:collagen
|
|
gptkbp:bfsLayer
|
6
|