Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
AP-2beta
AP2-B TFAP2B_HUMAN |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
Char syndrome
|
| gptkbp:discoveredBy |
Williams T et al.
|
| gptkbp:encodes |
AP-2 beta
|
| gptkbp:Entrez_Gene_ID |
7021
ENSG00000128512 |
| gptkbp:expressedIn |
embryonic tissues
adult tissues |
| gptkbp:firstDescribed |
1991
|
| gptkbp:fullName |
transcription factor AP-2 beta
|
| gptkbp:function |
transcription factor
|
| gptkbp:HGNC_ID |
HGNC:11743
|
| https://www.w3.org/2000/01/rdf-schema#label |
TFAP2B
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_6
|
| gptkbp:mutationAssociatedWith |
congenital heart defects
craniofacial abnormalities limb anomalies |
| gptkbp:OMIM |
601601
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Tfap2b
|
| gptkbp:orthologInZebrafish |
tfap2b
|
| gptkbp:proteinFamily |
gptkb:AP-2_family
|
| gptkbp:regulates |
gene expression
|
| gptkbp:transcriptionFactorClass |
sequence-specific DNA-binding
|
| gptkbp:UniProtID |
Q92481
|
| gptkbp:bfsParent |
gptkb:AP2
gptkb:AP-2 |
| gptkbp:bfsLayer |
7
|