SON

Chr 21q22.11

SON DNA and RNA binding protein

Aliases:: DBP-5, NREBP, KIAA1019, BASS1, FLJ21099
MANE:: ENST00000356577.10

OMIM: 182465 ↗NCBI: 6651 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

SON · P18583

v62025-08-01

Predicted Aligned Error matrix for SON — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

36.1/ 100

Very low

2,426 residues

Confidence breakdown

Very high(≥ 90)2%
Confident(70–90)7%
Low(50–70)6%
Very low(< 50)85%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited white matter disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

ZTTK syndrome
0.78
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
0.64
hereditary disease
0.55
neurodegenerative disease
0.54
Intellectual disability
0.47
Alzheimer disease
0.47
Parkinson disease
0.46
multiple sclerosis
0.46
lysosomal storage disease
0.46
Global developmental delay
0.39

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Protein SON

RNA-binding protein that acts as a mRNA splicing cofactor by promoting efficient splicing of transcripts that possess weak splice sites. Specifically promotes splicing of many cell-cycle and DNA-repair transcripts that possess weak splice sites, such as TUBG1, KATNB1, TUBGCP2, AURKB, PCNT, AKT1, RAD23A, and FANCG. Probably acts by facilitating the interaction between Serine/arginine-rich proteins such as SRSF2 and the RNA polymerase II. Also binds to DNA; binds to the consensus DNA sequence: 5'-GA[GT]AN[CG][AG]CC-3'. May indirectly repress hepatitis B virus (HBV) core promoter activity and transcription of HBV genes and production of HBV virions. Essential for correct RNA splicing of multiple genes critical for brain development, neuronal migration and metabolism, including TUBG1, FLNA, PNKP, WDR62, PSMD3, PCK2, PFKL, IDH2, and ACY1 (PubMed:27545680)