STAC3

Chr 12q13.3

SH3 and cysteine rich domain 3

Aliases:: MGC2793
MANE:: ENST00000332782.7

OMIM: 615521 ↗NCBI: 246329 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

STAC3 · Q96MF2

v62025-08-01

Predicted Aligned Error matrix for STAC3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

69.3/ 100

Low

364 residues

Confidence breakdown

Very high(≥ 90)33%
Confident(70–90)20%
Low(50–70)17%
Very low(< 50)31%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Arthrogryposis
BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Malignant hyperthermia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Native American myopathy
0.78
Bailey-Bloch congenital myopathy
0.78
hereditary disease
0.41
congenital myopathy
0.27
Congenital myasthenic syndromes
0.08
congenital myasthenic syndromes with glycosylation defect
0.07
amyotrophic lateral sclerosis
0.07
Postsynaptic congenital myasthenic syndromes
0.07
Distal myopathy, Nonaka type
0.07
autosomal recessive limb-girdle muscular dystrophy type 2P
0.07

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

Protein function (UniProt)

SH3 and cysteine-rich domain-containing protein 3

Required for normal excitation-contraction coupling in skeletal muscle and for normal muscle contraction in response to membrane depolarization. Required for normal Ca(2+) release from the sarcplasmic reticulum, which ultimately leads to muscle contraction. Probably functions via its effects on muscle calcium channels (PubMed:23736855, PubMed:29078335). Increases CACNA1S channel activity, in addition to its role in enhancing the expression of CACNA1S at the cell membrane. Has a redundant role in promoting the expression of the calcium channel CACNA1S at the cell membrane (By similarity). Slows down the inactivation rate of the calcium channel CACNA1C (PubMed:29078335)