|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Popliteal_pterygium_syndrome
gptkb:Van_der_Woude_syndrome
|
|
gptkbp:discoveredBy
|
gptkb:Kondo_et_al.
|
|
gptkbp:discoveredIn
|
2002
|
|
gptkbp:domain
|
IRF domain
SMIR domain
|
|
gptkbp:encodes
|
gptkb:Interferon_regulatory_factor_6_protein
|
|
gptkbp:Entrez_Gene_ID
|
3664
|
|
gptkbp:expressedIn
|
gptkb:skin
oral epithelium
|
|
gptkbp:fullName
|
gptkb:Interferon_Regulatory_Factor_6
|
|
gptkbp:function
|
transcription factor
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasPseudogene
|
gptkb:IRF6P1
|
|
gptkbp:HGNC_ID
|
6125
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
IRF6
|
|
gptkbp:involvedIn
|
wound healing
craniofacial development
|
|
gptkbp:length
|
467 amino acids
|
|
gptkbp:locatedOnChromosome
|
plus
1q32.3
|
|
gptkbp:mutationAssociatedWith
|
cleft lip and/or palate
|
|
gptkbp:numberOfExons
|
9
|
|
gptkbp:OMIM
|
607199
|
|
gptkbp:orthologInMouse
|
gptkb:Irf6
|
|
gptkbp:orthologInZebrafish
|
irf6
|
|
gptkbp:regulates
|
epithelial development
keratinocyte differentiation
keratinocyte proliferation
|
|
gptkbp:symbol
|
gptkb:IRF6
|
|
gptkbp:UniProtID
|
O14896
|
|
gptkbp:bfsParent
|
gptkb:chromosome_1q32
|
|
gptkbp:bfsLayer
|
7
|