TNNC2

Chr 20q13.12

troponin C2, fast skeletal type

Aliases:: FAP85, CFAP85
MANE:: ENST00000372555.8

OMIM: 191039 ↗NCBI: 7125 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

TNNC2 · P02585

v62025-08-01

Predicted Aligned Error matrix for TNNC2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

84.0/ 100

Confident

160 residues

Confidence breakdown

Very high(≥ 90)26%
Confident(70–90)66%
Low(50–70)8%
Very low(< 50)1%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital myopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

congenital myopathy 15
0.51
amyotrophic lateral sclerosis
0.37
neurodegenerative disease
0.23
trigeminal nerve disorder
0.10
head and neck squamous cell carcinoma
0.07
myasthenia gravis
0.07
Increased muscle fatiguability
0.07
proximal spinal muscular atrophy
0.07
chronic obstructive pulmonary disease
0.07
spinal muscular atrophy
0.07

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

Protein function (UniProt)

Troponin C, skeletal muscle

Troponin is the central regulatory protein of striated muscle contraction. Tn consists of three components: Tn-I which is the inhibitor of actomyosin ATPase, Tn-T which contains the binding site for tropomyosin and Tn-C. The binding of calcium to Tn-C abolishes the inhibitory action of Tn on actin filaments