|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Alport_syndrome
hematuria
sensorineural hearing loss
ocular abnormalities
Alport syndrome, X-linked
progressive renal failure
|
|
gptkbp:biologicalProcess
|
extracellular matrix organization
structural constituent of basement membrane
|
|
gptkbp:cellularComponent
|
basement membrane
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for Alport syndrome
|
|
gptkbp:discoveredBy
|
Kashtan CE et al.
|
|
gptkbp:encodes
|
collagen alpha-5(IV) chain
|
|
gptkbp:Entrez_Gene_ID
|
1287
|
|
gptkbp:expressedIn
|
gptkb:kidney
gptkb:cochlea
eye
|
|
gptkbp:function
|
type IV collagen biosynthesis
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
2211
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
COL4A5 gene
|
|
gptkbp:inheritance
|
X-linked dominant
|
|
gptkbp:involvedIn
|
glomerular basement membrane formation
|
|
gptkbp:length
|
1685 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:X_chromosome
|
|
gptkbp:mutationAssociatedWith
|
nonsense
deletion
missense
duplication
splice site
hereditary nephritis
|
|
gptkbp:OMIM
|
303630
|
|
gptkbp:orthologInChicken
|
COL4A5
|
|
gptkbp:orthologInChimpanzee
|
COL4A5
|
|
gptkbp:orthologInCow
|
COL4A5
|
|
gptkbp:orthologInDog
|
COL4A5
|
|
gptkbp:orthologInFrog
|
col4a5
|
|
gptkbp:orthologInFruitFly
|
vkg
|
|
gptkbp:orthologInMouse
|
Col4a5
|
|
gptkbp:orthologInZebrafish
|
col4a5
|
|
gptkbp:product
|
collagen type IV alpha 5 chain
|
|
gptkbp:proteinFamily
|
gptkb:collagen_gene_family
|
|
gptkbp:referenceGenomeLocation
|
Xq22.3
|
|
gptkbp:UniProtID
|
P29400
|
|
gptkbp:bfsParent
|
gptkb:Type_IV_collagen
gptkb:collagen_IV
|
|
gptkbp:bfsLayer
|
7
|