ITGB4

Chr 17q25.1

integrin subunit beta 4

Aliases:: CD104
MANE:: ENST00000200181.8

OMIM: 147557 ↗NCBI: 3691 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

ITGB4 · P16144

v62025-08-01

Predicted Aligned Error matrix for ITGB4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

68.4/ 100

Low

1,822 residues

Confidence breakdown

Very high(≥ 90)14%
Confident(70–90)48%
Low(50–70)14%
Very low(< 50)24%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Epidermolysis bullosa
BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ectodermal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Familial cicatricial alopecia
BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease
Unexplained kidney failure in young people

Disease associations (Open Targets)

junctional epidermolysis bullosa with pyloric atresia
0.83
Junctional epidermolysis bullosa - pyloric atresia
0.82
epidermolysis bullosa, junctional 5A, intermediate
0.69
Generalized junctional epidermolysis bullosa, non-Herlitz type
0.58
junctional epidermolysis bullosa, non-Herlitz type
0.58
localized junctional epidermolysis bullosa, non-Herlitz type
0.56
junctional epidermolysis bullosa
0.50
junctional epidermolysis bullosa inversa
0.48
generalized junctional epidermolysis bullosa non-Herlitz type
0.47
Localized epidermolysis bullosa simplex
0.46

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

Protein function (UniProt)

Integrin beta-4

Integrin alpha-6/beta-4 is a receptor for laminin. Plays a critical structural role in the hemidesmosome of epithelial cells. Is required for the regulation of keratinocyte polarity and motility. ITGA6:ITGB4 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGA6:ITGB4 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:22351760). ITGA6:ITGB4 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464)