SCAF4

Chr 21q22.11

SR-related CTD associated factor 4

Aliases:: KIAA1172, DKFZp434E098, SRA4
MANE:: ENST00000286835.12

OMIM: 616023 ↗NCBI: 57466 ↗Ensembl ↗

Annotations refreshed 11 hours ago.

Predicted protein structure

AlphaFold predicted structure

SCAF4 · O95104

v62025-08-01

Predicted Aligned Error matrix for SCAF4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

53.9/ 100

Low

1,147 residues

Confidence breakdown

Very high(≥ 90)19%
Confident(70–90)7%
Low(50–70)8%
Very low(< 50)66%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
White matter disorders and cerebral calcification - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

Fliedner-Zweier syndrome
0.72
hereditary disease
0.51
complex neurodevelopmental disorder
0.50
Intellectual disability
0.43
neurodevelopmental disorder
0.41
Abnormality of the kidney
0.34
multicystic dysplastic kidney
0.34
rare syndromic intellectual disability
0.34
protozoa infectious disease
0.27
neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
0.27

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

Protein function (UniProt)

SR-related and CTD-associated factor 4

Anti-terminator protein required to prevent early mRNA termination during transcription (PubMed:31104839). Together with SCAF8, acts by suppressing the use of early, alternative poly(A) sites, thereby preventing the accumulation of non-functional truncated proteins (PubMed:31104839). Mechanistically, associates with the phosphorylated C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit (POLR2A), and subsequently binds nascent RNA upstream of early polyadenylation sites to prevent premature mRNA transcript cleavage and polyadenylation (PubMed:31104839). Independently of SCAF8, also acts as a suppressor of transcriptional readthrough (PubMed:31104839)