COL9A2 gene

URI: https://gptkb.org/entity/COL9A2_gene
GPTKB entity
Statements (19)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alternativeName gptkb:collagen_type_IX_alpha_2_chain
gptkbp:associatedWith gptkb:COL9A2_protein
gptkb:multiple_epiphyseal_dysplasia
gptkbp:encodes gptkb:collagen_alpha-2(IX)_chain
gptkbp:Entrez_Gene_ID 1298
gptkbp:expressedIn cartilage tissue
gptkbp:function structural component of cartilage
gptkbp:HGNC_ID 2212
gptkbp:locatedOnChromosome gptkb:1p34.2
gptkbp:mutationAssociatedWith gptkb:skeletal_dysplasia
gptkbp:OMIM 120260
gptkbp:orthologInMouse gptkb:Col9a2
gptkbp:species gptkb:Homo_sapiens
gptkbp:UniProtID P22860
gptkbp:bfsParent gptkb:Fairbanks_disease
gptkb:Fairbank_disease
gptkbp:bfsLayer 7
https://www.w3.org/2000/01/rdf-schema#label COL9A2 gene