Statements (50)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alsoKnownAs |
gptkb:SIP1
ZFHX1B Zinc finger homeobox 1b |
| gptkbp:associatedWith |
gptkb:Mowat-Wilson_syndrome
|
| gptkbp:discoveredBy |
Verschueren et al.
|
| gptkbp:encodes |
Zinc finger E-box-binding homeobox 2
|
| gptkbp:Entrez_Gene_ID |
9839
|
| gptkbp:expressedIn |
various tissues including brain, heart, and kidney
|
| gptkbp:firstDescribed |
2002
|
| gptkbp:function |
transcription factor
|
| gptkbp:HGNC_ID |
gptkb:HGNC:29022
|
| https://www.w3.org/2000/01/rdf-schema#label |
ZEB2 gene
|
| gptkbp:involvedIn |
cell differentiation
organogenesis neural crest development |
| gptkbp:locatedOnChromosome |
2q22.3
|
| gptkbp:mutationAssociatedWith |
gptkb:Mowat-Wilson_syndrome
gptkb:Hirschsprung_disease epilepsy nonsense intellectual disability missense congenital malformations microcephaly frameshift distinctive facial features splice site growth retardation cardiac defects genitourinary anomalies |
| gptkbp:mutationInheritance |
autosomal dominant
|
| gptkbp:OMIM |
605802
|
| gptkbp:orthologInMouse |
Zeb2
|
| gptkbp:product |
ZEB2 protein
|
| gptkbp:proteinFamily |
zinc finger proteins
zinc finger domain homeodomain |
| gptkbp:regulates |
gptkb:TGF-beta_signaling_pathway
cell proliferation cell migration cell fate determination epithelial-mesenchymal transition E-cadherin expression |
| gptkbp:relatedTo |
ZEB1 gene
|
| gptkbp:transcriptionRegulator |
gptkb:TGF-beta_pathway
gptkb:SMAD_proteins |
| gptkbp:UniProtID |
O60315
|
| gptkbp:bfsParent |
gptkb:SIP1
|
| gptkbp:bfsLayer |
8
|