ITGB5

Chr 3

integrin subunit beta 5

NCBI Gene: 3693 ENSG00000082781 UniProt: P18084 OMIM: 147561

The protein forms integrin alpha-V/beta-5, a cell surface receptor that binds fibronectin and vitronectin through RGD sequences to mediate cell adhesion and signaling. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, corpus callosum abnormalities, and seizures typically beginning in infancy. This gene is not highly constrained against loss-of-function variants.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a beta subunit of integrin, which can combine with different alpha chains to form a variety of integrin heterodimers. Integrins are integral cell-surface receptors that participate in cell adhesion as well as cell-surface mediated signaling. The alphav beta5 integrin is involved in adhesion to vitronectin. [provided by RefSeq, Aug 2017]

GeneReviews OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

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GeneReview available — ITGB5

Authoritative clinical overview · Recommended first read

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Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in ITGB5?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 53

956 rare PASS variants

Rare truncating (LoF)

1 in 1,700

113 rare PASS variants

Rare synonymous (reference)

1 in 71

422 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ITGB5. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 71	1 in 2,900
South Asian	~43k	1 in 62	1 in 2,000
Remaining (unassigned)	~30k	1 in 46	1 in 2,300
European (Finnish)	~27k	1 in 150	≈ 1 in 8,900
Admixed American	~22k	1 in 62	1 in 3,200
African / African American	~21k	1 in 43	1 in 1,900
East Asian	~20k	1 in 49	1 in 1,700
Ashkenazi Jewish	~13k	1 in 360	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 68	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 12 of 15 coding exons well covered in gnomAD exomes; exons 1, 8, 15 marginal. Genomes: all 15.? see exons ↓