ITGB6 — integrin subunit beta 6 | GeneE

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5 sources retrieved · Most recent: April 2026 · Index updated 6 months ago

144PubMed Papers

#3,158 · top 16% of 19K genes

21Diseases

top 12%

4Drugs

top 47%

14Pathogenic Variants

top 55%

Clinical TrialsOMIM Disease GeneReceptorExperimental GO EvidenceSwiss-Prot Reviewed

focal adhesioncell adhesion mediated by integrinamelogenesiscoreceptor activityamelogenesis imperfectaamelogenesis imperfecta type 1smoking initiationalopecia - intellectual disability syndrome

AI Summary

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integrin subunit beta 6

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations21

amelogenesis imperfectaOpen Targets

0.62Moderate

amelogenesis imperfecta type 1Open Targets

0.61Moderate

smoking initiationOpen Targets

0.40Weak

alopecia - intellectual disability syndromeOpen Targets

0.39Weak

hypocalcified amelogenesis imperfectaOpen Targets

0.37Weak

non-small cell lung carcinomaOpen Targets

0.34Weak

metabolic syndromeOpen Targets

0.34Weak

anxiety disorderOpen Targets

0.33Weak

membranous glomerulonephritisOpen Targets

0.33Weak

adolescent idiopathic scoliosisOpen Targets

0.33Weak

atrial fibrillationOpen Targets

0.24Weak

type 2 diabetes mellitusOpen Targets

0.21Weak

hereditary diseaseOpen Targets

0.19Weak

diabetes mellitusOpen Targets

0.16Weak

refractive errorOpen Targets

0.14Weak

prostate cancerOpen Targets

0.13Weak

Familial prostate cancerOpen Targets

0.11Weak

idiopathic pulmonary fibrosisOpen Targets

0.11Weak

neoplasmOpen Targets

0.11Weak

microcephalyOpen Targets

0.11Weak

Amelogenesis imperfecta 1HUniProt

Pathogenic Variants14

NM_000888.5(ITGB6):c.1073del (p.Gly358fs)Likely pathogenic

Amelogenesis imperfecta type 1H

★☆☆☆2025→ Residue 358

NM_000888.5(ITGB6):c.594-1G>ALikely pathogenic

Amelogenesis imperfecta type 1H

★☆☆☆2025

NM_000888.5(ITGB6):c.62-2A>GLikely pathogenic

Amelogenesis imperfecta type 1H

★☆☆☆2025

NM_000888.5(ITGB6):c.586C>A (p.Pro196Thr)Likely pathogenic

Amelogenesis imperfecta type 1H

★☆☆☆→ Residue 196

NM_000888.5(ITGB6):c.625G>T (p.Gly209Ter)Pathogenic

Amelogenesis imperfecta type 1H

★☆☆☆→ Residue 209

NM_000888.5(ITGB6):c.411C>A (p.Tyr137Ter)Likely pathogenic

Amelogenesis imperfecta type 1H

★☆☆☆→ Residue 137

NM_000888.5(ITGB6):c.1661-3C>GLikely pathogenic

Amelogenesis imperfecta type 1H

★☆☆☆

NM_000888.5(ITGB6):c.1846C>T (p.Arg616Ter)Pathogenic

Amelogenesis imperfecta type 1H

☆☆☆☆2014→ Residue 616

NM_000888.5(ITGB6):c.825T>A (p.His275Gln)Pathogenic

Amelogenesis imperfecta type 1H

☆☆☆☆2014→ Residue 275

NM_000888.5(ITGB6):c.898G>A (p.Glu300Lys)Pathogenic

Adolescent alopeciam dentogingival abnormalitites and intellectual disability

☆☆☆☆→ Residue 300

NM_000888.5(ITGB6):c.1060C>T (p.Gln354Ter)Pathogenic

Amelogenesis imperfecta

☆☆☆☆→ Residue 354

NM_000888.5(ITGB6):c.2312A>G (p.Asn771Ser)Pathogenic

Amelogenesis imperfecta

☆☆☆☆→ Residue 771

NM_000888.5(ITGB6):c.1693T>C (p.Cys565Arg)Pathogenic

Amelogenesis imperfecta

☆☆☆☆→ Residue 565

NM_000888.5(ITGB6):c.2091del (p.Asn698fs)Pathogenic

Amelogenesis imperfecta

☆☆☆☆→ Residue 698

Drug Targets04

ABITUZUMABPhase II

Integrin alpha-V/beta-1 inhibitor

colorectal cancer

SIGVOTATUGUNKNOWN

Integrin beta-6 inhibitor

neoplasm

SIGVOTATUG VEDOTINPhase III

Integrin beta-6 binding agent

non-small cell lung carcinoma

STX-100Phase II

Integrin alpha-V/beta-6 inhibitor

idiopathic pulmonary fibrosis

Related Genes6

ITGBL1Shared pathway86%ITGAEShared pathway57%ITGA10Shared pathway57%ITGA9Shared pathway50%ITGA11Shared pathway45%ITGB7Shared pathway42%

Tissue Expression6 tissues

Lung

100%

Heart

3%

Liver

1%

Brain

1%

Ovary

0%

Bone Marrow

0%

Gene Interaction Network6 neighbors

Click a node to explore

Structure13 PDB hits

Preparing viewer…

PDB9CZD · 2.23 Å · X-ray

ConstraintgnomAD v4.1

LOEUFⓘ

1.20LoF Tolerant

pLIⓘ

0.00Tolerant

Observed/Expected LoF0.97 [0.79–1.20]

Rankings3 dim

Where ITGB6 stands among ~20K protein-coding genes

#3,164of 20,598
Most Researched144 · top quartile
#2,608of 5,564
Most Pathogenic Variants14
#12,556of 17,882
Most Constrained (LOEUF)1.20

Meta

Genes detectedITGB6

Sources retrieved5 papers

Response time—

Sources5

1

Regional localization of the human integrin beta 6 gene (ITGB6) to chromosome 2q24-q31.

Genomics · 1994

0.95

2

Chromosomal locations of the genes coding for the integrin beta 6 and beta 7 subunits.

Immunogenetics · 1992

0.95

3

The gene organization of the human beta 7 subunit, the common beta subunit of the leukocyte integrins HML-1 and LPAM-1.

Int Immunol · 1992

0.95

4

Characterization of the integrin alpha v beta 6 as a fibronectin-binding protein.

J Biol Chem · 1992

0.95

5

Complete amino acid sequence of a novel integrin beta subunit (beta 6) identified in epithelial cells using the polymerase chain reaction.

J Biol Chem · 1990

0.95

View all 144 papers on PubMed →