SNAPC4

Chr 9q34.3

small nuclear RNA activating complex polypeptide 4

Aliases:: SNAP190, PTFalpha, FLJ13451
MANE:: ENST00000684778.1

OMIM: 602777 ↗NCBI: 6621 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SNAPC4 · Q5SXM2

v62025-08-01

Predicted Aligned Error matrix for SNAPC4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

51.6/ 100

Low

1,469 residues

Confidence breakdown

Very high(≥ 90)10%
Confident(70–90)22%
Low(50–70)13%
Very low(< 50)55%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction
0.69
neurodegenerative disease
0.44
Crohn disease
0.34
inflammatory bowel disease
0.32
asthma
0.23
IgA glomerulonephritis
0.22
enteritis
0.20
colitis
0.20
hereditary disease
0.19
early-onset non-syndromic cataract
0.10

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

Protein function (UniProt)

snRNA-activating protein complex subunit 4

Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box