SCNM1

Chr 1q21.3

sodium channel modifier 1

Aliases:: MGC3180
MANE:: ENST00000368905.9

OMIM: 608095 ↗NCBI: 79005 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

SCNM1 · Q9BWG6

v62025-08-01

Predicted Aligned Error matrix for SCNM1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

69.7/ 100

Low

230 residues

Confidence breakdown

Very high(≥ 90)15%
Confident(70–90)38%
Low(50–70)20%
Very low(< 50)27%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Limb disorders
BIALLELIC, autosomal or pseudoautosomal
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

orofaciodigital syndrome 19
0.57
neutropenia
0.09
Decreased total leukocyte count
0.09
myocardial infarction
0.03
coronary artery disorder
0.03
ischemic stroke
0.03
functional neutrophil defect
0.02
atopic eczema
0.02
hepatocellular carcinoma
0.02
orofaciodigital syndrome
0.02

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

Protein function (UniProt)

Sodium channel modifier 1

As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (PubMed:36084634). Plays a role in the regulation of primary cilia length and Hedgehog signaling (PubMed:36084634)