ITGA7

Chr 12AR

integrin subunit alpha 7

NCBI Gene: 3679ENSG00000135424UniProt: Q13683

The protein encoded by this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. They mediate a wide spectrum of cell-cell and cell-matrix interactions, and thus play a role in cell migration, morphologic development, differentiation, and metastasis. This protein functions as a receptor for the basement membrane protein laminin-1. It is mainly expressed in skeletal and cardiac muscles and may be involved in differentiation and migration processes during myogenesis. Defects in this gene are associated with congenital myopathy. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Feb 2009]

Primary Disease Associations & Inheritance

Muscular dystrophy, congenital, due to ITGA7 deficiencyMIM #613204
AR
1161
ClinVar variants
26
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— ITGA7
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
26 Pathogenic / Likely Pathogenic· 236 VUS of 1161 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.80LOEUF
pLI 0.000
Z-score 2.82
OE 0.60 (0.46–0.80)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.36Z-score
OE missense 0.96 (0.90–1.03)
637 obs / 663.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.60 (0.46–0.80)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.96 (0.90–1.03)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.98
0≤1.21.6
LoF obs/exp: 36 / 59.5Missense obs/exp: 637 / 663.0Syn Z: 0.27

ClinVar Variant Classifications

1161 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic12
Likely Pathogenic14
VUS236
Likely Benign212
Benign6
Conflicting2
12
Pathogenic
14
Likely Pathogenic
236
VUS
212
Likely Benign
6
Benign
2
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
7
0
5
0
12
Likely Pathogenic
10
0
4
0
14
VUS
2
216
15
3
236
Likely Benign
0
2
86
124
212
Benign
0
0
5
1
6
Conflicting
—2
Total19218115128482

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ITGA7 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Gene2Phenotype Curations

ITGA7-related congenital muscular dystrophy

moderate
ARLoss Of FunctionAbsent Gene Product
Dev. Disorders
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
INTEGRIN, ALPHA-7; ITGA7
MIM #600536 · *

Muscular dystrophy, congenital, due to ITGA7 deficiency

MIM #613204

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Molecular typing of gliomas on the basis of integrin family genes and a functional study of ITGA7.
Han H et al.·Sci Rep
2025Functional
ITGA7 relates to disease risk, pathological feature, treatment response and survival in Ph(-) acute lymphoblastic leukemia.
Zhang X et al.·Biomark Med
2021
ITGA7 loss drives the differentiation of adipose-derived mesenchymal stem cells to cancer-associated fibroblasts.
Liu X et al.·Mol Carcinog
2024
Analysis of the basement membrane-related genes ITGA7 and its regulatory role in periodontitis via machine learning: a retrospective study.
Ye H et al.·BMC Oral Health
2024
Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice.
Bugiardini E et al.·J Am Heart Assoc
2022
Integrin α7 is a functional cancer stem cell surface marker in oesophageal squamous cell carcinoma.
Ming XY et al.·Nat Commun
2016Functional
Inherited and de novo variants in young females potentially associated with pelvic organ prolapse.
Sadakierska-Chudy A et al.·Am J Obstet Gynecol
2025
Structure, genetic localization, and identification of the cardiac and skeletal muscle transcripts of the human integrin alpha7 gene (ITGA7).
Vignier N et al.·Biochem Biophys Res Commun
1999
Transcriptome profiles of stem-like cells from primary breast cancers allow identification of ITGA7 as a predictive marker of chemotherapy response.
Gwili N et al.·Br J Cancer
2021
Integrin α7 correlates with worse clinical features and prognosis, and its knockdown inhibits cell proliferation and stemness in tongue squamous cell carcinoma.
Lv Z et al.·Int J Oncol
2020
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools