TNNI2

Chr 11p15.5

troponin I2, fast skeletal type

Aliases:: FSSV, DA2B, fsTnI
MANE:: ENST00000381911.6

OMIM: 191043 ↗NCBI: 7136 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TNNI2 · P48788

v62025-08-01

Predicted Aligned Error matrix for TNNI2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

80.7/ 100

Confident

182 residues

Confidence breakdown

Very high(≥ 90)46%
Confident(70–90)25%
Low(50–70)28%
Very low(< 50)2%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Arthrogryposis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

distal arthrogryposis type 2B1
0.74
Sheldon-hall syndrome
0.62
distal arthrogryposis
0.46
digitotalar dysmorphism
0.38
amyotrophic lateral sclerosis
0.37
arthrogryposis multiplex congenita
0.37
hypertensive disorder
0.35
Ulnar deviation of the wrist
0.34
Congenital finger flexion contractures
0.34
Calcaneovalgus deformity
0.34

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

Protein function (UniProt)

Troponin I, fast skeletal muscle

Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity