This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The encoded protein forms dimers with an alpha4 chain or an alphaE chain and plays a role in leukocyte adhesion. Dimerization with alpha4 forms a homing receptor for migration of lymphocytes to the intestinal mucosa and Peyer's patches. Dimerization with alphaE permits binding to the ligand epithelial cadherin, a calcium-dependent adhesion molecule. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]

OMIMResearchGenerating clinical summary…
0
Active trials
30
Pubs (1 yr)
P/LP submissions
P/LP missense
0.65
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.65LOEUF
pLI 0.000
Z-score 3.25
OE 0.43 (0.290.65)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.42Z-score
OE missense 0.82 (0.750.89)
394 obs / 481.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.43 (0.290.65)
00.351.4
Missense OE?0.82 (0.750.89)
00.61.4
Synonymous OE?1.12
01.21.6
LoF obs/exp: 16 / 37.5Missense obs/exp: 394 / 481.9Syn Z: -1.30

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ITGB7 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →