SERPINB6

Chr 6p25.2

serpin family B member 6

Aliases:: PTI, CAP
MANE:: ENST00000380539.7

OMIM: 173321 ↗NCBI: 5269 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

SERPINB6 · P35237

v62025-08-01

Predicted Aligned Error matrix for SERPINB6 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.6/ 100

Very high

376 residues

Confidence breakdown

Very high(≥ 90)80%
Confident(70–90)14%
Low(50–70)2%
Very low(< 50)5%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hearing loss, autosomal recessive
0.59
deafness
0.46
hearing loss disorder
0.37
Alzheimer disease
0.30
neurodegenerative disease
0.30
Parkinson disease
0.30
lysosomal storage disease
0.30
multiple sclerosis
0.30
Rare genetic deafness
0.27
nonsyndromic genetic hearing loss
0.18

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

Protein function (UniProt)

Serpin B6

May be involved in the regulation of serine proteinases present in the brain or extravasated from the blood (By similarity). Inhibitor of cathepsin G, kallikrein-8 and thrombin. May play an important role in the inner ear in the protection against leakage of lysosomal content during stress and loss of this protection results in cell death and sensorineural hearing loss