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gptkbp:instanceOf
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gptkb:gene
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gptkbp:alsoKnownAs
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gptkb:SIP1
ZFHX1B
Zinc finger homeobox 1b
|
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gptkbp:associatedWith
|
gptkb:Mowat-Wilson_syndrome
|
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gptkbp:discoveredBy
|
Verschueren et al.
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gptkbp:encodes
|
Zinc finger E-box-binding homeobox 2
|
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gptkbp:Entrez_Gene_ID
|
9839
|
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gptkbp:expressedIn
|
various tissues including brain, heart, and kidney
|
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gptkbp:firstDescribed
|
2002
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gptkbp:function
|
gptkb:transcription_factor
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gptkbp:HGNC_ID
|
gptkb:HGNC:29022
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gptkbp:involvedIn
|
cell differentiation
organogenesis
neural crest development
|
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gptkbp:locatedOnChromosome
|
2q22.3
|
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gptkbp:mutationAssociatedWith
|
gptkb:intellectual_disability
gptkb:Mowat-Wilson_syndrome
gptkb:Hirschsprung_disease
epilepsy
nonsense
missense
congenital malformations
microcephaly
frameshift
distinctive facial features
splice site
growth retardation
cardiac defects
genitourinary anomalies
|
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gptkbp:mutationInheritance
|
autosomal dominant
|
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gptkbp:OMIM
|
605802
|
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gptkbp:orthologInMouse
|
Zeb2
|
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gptkbp:product
|
ZEB2 protein
|
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gptkbp:proteinFamily
|
zinc finger proteins
zinc finger domain
homeodomain
|
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gptkbp:regulates
|
gptkb:TGF-beta_signaling_pathway
cell proliferation
cell migration
cell fate determination
epithelial-mesenchymal transition
E-cadherin expression
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gptkbp:relatedTo
|
ZEB1 gene
|
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gptkbp:transcriptionRegulator
|
gptkb:TGF-beta_pathway
gptkb:SMAD_proteins
|
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gptkbp:UniProtID
|
O60315
|
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gptkbp:bfsParent
|
gptkb:SIP1
|
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gptkbp:bfsLayer
|
8
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ZEB2 gene
|