AlphaFold predicted structure
AFF3 · P51826
Mean pLDDT
51.2/ 100
Low
1,226 residues
Confidence breakdown
- Very high(≥ 90)14%
- Confident(70–90)8%
- Low(50–70)9%
- Very low(< 50)70%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
AFF3
Chr 2q11.2ALF transcription elongation factor 3
- Aliases:
- MLLT2-like
- MANE:
- ENST00000672756.2
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownSkeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
KINSSHIP syndrome
0.77Abnormality of the skeletal system
0.50rheumatoid arthritis
0.47intelligence
0.46hereditary disease
0.42type 1 diabetes mellitus
0.41gastroesophageal reflux disease
0.40smoking initiation
0.38gastric carcinoma
0.38lung carcinoma
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
AF4/FMR2 family member 3
Putative transcription activator that may function in lymphoid development and oncogenesis. Binds, in vitro, to double-stranded DNA
Diseases associated with AFF3
Curated MONDO disease pages that list AFF3 among their top associated genes.