ITGB6

Chr 2q24.2

integrin subunit beta 6

MANE:: ENST00000283249.7

OMIM: 147558 ↗NCBI: 3694 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ITGB6 · P18564

v62025-08-01

Predicted Aligned Error matrix for ITGB6 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

82.9/ 100

Confident

788 residues

Confidence breakdown

Very high(≥ 90)39%
Confident(70–90)45%
Low(50–70)10%
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)

Amelogenesis imperfecta
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

amelogenesis imperfecta
0.61
Hypoplastic amelogenesis imperfecta
0.60
Alopecia-intellectual disability syndrome
0.39
smoking initiation
0.38
hypocalcified amelogenesis imperfecta
0.37
alopecia - intellectual disability syndrome
0.37
non-small cell lung carcinoma
0.34
membranous glomerulonephritis
0.34
adolescent idiopathic scoliosis
0.33
metabolic syndrome
0.32

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

Protein function (UniProt)

Integrin beta-6

Integrin alpha-V:beta-6 (ITGAV:ITGB6) is a receptor for fibronectin and cytotactin (PubMed:17158881, PubMed:17545607). It recognizes the sequence R-G-D in its ligands (PubMed:17158881, PubMed:17545607). Internalization of integrin alpha-V/beta-6 via clathrin-mediated endocytosis promotes carcinoma cell invasion (PubMed:17158881, PubMed:17545607). ITGAV:ITGB6 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1 (PubMed:17158881). Integrin alpha-V:beta-6 (ITGAV:ITGB6) mediates R-G-D-dependent release of transforming growth factor beta-1 (TGF-beta-1) from regulatory Latency-associated peptide (LAP), thereby playing a key role in TGF-beta-1 activation (PubMed:15184403, PubMed:22278742, PubMed:28117447)

Curated MONDO disease pages that list ITGB6 among their top associated genes.

adolescent idiopathic scoliosisRare

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with ITGB6