ITGA7

Chr 12q13.2

integrin subunit alpha 7

MANE:: ENST00000257879.11

OMIM: 600536 ↗NCBI: 3679 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ITGA7 · Q13683

v62025-08-01

Predicted Aligned Error matrix for ITGA7 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.2/ 100

Confident

1,181 residues

Confidence breakdown

Very high(≥ 90)45%
Confident(70–90)32%
Low(50–70)7%
Very low(< 50)16%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Congenital muscular dystrophy with integrin alpha-7 deficiency
0.73
congenital muscular dystrophy due to integrin alpha-7 deficiency
0.69
neurodegenerative disease
0.53
congenital muscular dystrophy due to LMNA mutation
0.42
congenital muscular dystrophy
0.42
congenital fiber-type disproportion myopathy
0.38
Congenital muscular dystrophy type 1A
0.38
congenital merosin-deficient muscular dystrophy 1A
0.38
atrial fibrillation
0.28
Abnormal brain morphology
0.27

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

Protein function (UniProt)

Integrin alpha-7

Integrin alpha-7/beta-1 is the primary laminin receptor on skeletal myoblasts and adult myofibers. During myogenic differentiation, it may induce changes in the shape and mobility of myoblasts, and facilitate their localization at laminin-rich sites of secondary fiber formation. It is involved in the maintenance of the myofibers cytoarchitecture as well as for their anchorage, viability and functional integrity. Isoform Alpha-7X2B and isoform Alpha-7X1B promote myoblast migration on laminin 1 and laminin 2/4, but isoform Alpha-7X1B is less active on laminin 1 (In vitro). Acts as a Schwann cell receptor for laminin-2. Acts as a receptor of COMP and mediates its effect on vascular smooth muscle cells (VSMCs) maturation (By similarity). Required to promote contractile phenotype acquisition in differentiated airway smooth muscle (ASM) cells