Symbol
| TFAP2B
| contributors: mct/npt - updated : 01-07-2012
|
HGNC name
| transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
|
HGNC id
| 11743
|
corresponding disease(s)
|
CHAR
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
| germinal mutation
|  
|  
|  
|
causing isolated patent ductus arteriosus without other clinical features (Khetyar 2008) | |
Susceptibility
|
to type 2 diabetes to female alcoholism |
Variant & Polymorphism
SNP
| increasing the risk of type 2 diabetes |
|
high-functioning allele was significantly more common among the female alcoholics, compared to the non-alcoholic controls (Nordquist 2009) |
|
|
Candidate gene
Marker
Therapy target
| | | |