AlphaFold predicted structure
AFF4 · Q9UHB7
Mean pLDDT
53.7/ 100
Low
1,163 residues
Confidence breakdown
- Very high(≥ 90)17%
- Confident(70–90)7%
- Low(50–70)7%
- Very low(< 50)68%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
AFF4
Chr 5q31.1ALF transcription elongation factor 4
- Aliases:
- AF5Q31, MCEF
- MANE:
- ENST00000265343.10
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
0.753q26 microduplication syndrome
0.60lung carcinoma
0.37skin basal cell carcinoma
0.37esophageal adenocarcinoma
0.37carcinoma of liver and intrahepatic biliary tract
0.37bile duct carcinoma
0.37colorectal adenocarcinoma
0.37ovarian endometrioid adenocarcinoma with squamous differentiation
0.37kidney neoplasm
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
AF4/FMR2 family member 4
Key component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. In the SEC complex, AFF4 acts as a central scaffold that recruits other factors through direct interactions with ELL proteins (ELL, ELL2 or ELL3) and the P-TEFb complex. In case of infection by HIV-1 virus, the SEC complex is recruited by the viral Tat protein to stimulate viral gene expression
Diseases associated with AFF4
Curated MONDO disease pages that list AFF4 among their top associated genes.