MATN3 gene

URI: https://gptkb.org/entity/MATN3_gene
GPTKB entity
Statements (19)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alternativeName gptkb:matrilin_3
gptkbp:associatedWith gptkb:spondyloepimetaphyseal_dysplasia
gptkb:multiple_epiphyseal_dysplasia
gptkbp:encodes gptkb:matrilin-3_protein
gptkbp:Entrez_Gene_ID 4149
gptkbp:expressedIn gptkb:collagen
gptkbp:function extracellular matrix organization
gptkbp:locatedOnChromosome chromosome 2
2p24-p23
gptkbp:mutationAssociatedWith gptkb:skeletal_dysplasia
gptkbp:OMIM 607078
gptkbp:organism gptkb:Homo_sapiens
gptkbp:proteinFamily gptkb:matrilin_family
gptkbp:UniProtID Q16602
gptkbp:bfsParent gptkb:Fairbanks_disease
gptkb:Fairbank_disease
gptkbp:bfsLayer 7
https://www.w3.org/2000/01/rdf-schema#label MATN3 gene