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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ITGB1BP2
integrin subunit beta 1 binding protein 2
Chromosome X · Xq13.1
NCBI Gene: 26548Ensembl: ENSG00000147166.12HGNC: HGNC:6154UniProt: Q9UKP3
22PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcentrosome duplicationZ disczinc ion bindingbreast carcinomapancreatic adenocarcinomadilated cardiomyopathyAlzheimer disease
✦AI Summary

ITGB1BP2 (melusin) is a muscle-specific signaling protein that plays a role in myocyte maturation and organization 1. The protein functions as an integrin β1-binding partner involved in mechanotransduction and integrin signaling pathways 2. In cardiac tissue, melusin is required for compensatory hypertrophy response in pressure-overloaded hearts 1. ITGB1BP2 also regulates integrin β1D isoform expression and myoblast fusion through interactions with CD9 and FRZB, functioning as a negative regulator of FRZB expression 3. In disease contexts, ITGB1BP2 variants have been investigated in hypertensive and cardiomyopathic patients, though genetic screening of nearly 1000 subjects revealed extremely low mutation prevalence, suggesting high conservation of the melusin gene 1. A missense mutation (c.938C>G) was identified in a dilated cardiomyopathy patient, though its functional significance remains unclear 4. Beyond cardiac pathology, elevated ITGB1BP2 levels serve as a biomarker associated with symptomatic carotid stenosis 5, cervical cancer 6, and atopic dermatitis with cardiovascular disease associations 7. These findings suggest ITGB1BP2 functions in integrin-mediated signaling across multiple tissues and may contribute to various cardiovascular and systemic pathologies.

Sources cited
1
Melusin (ITGB1BP2) is a muscle-specific signaling protein required for compensatory hypertrophy response in pressure-overloaded heart; demonstrates high conservation in human populations
PMID: 20017903
2
Integrins and their associated proteins function as mechanotransducers in cardiac myocytes, translating mechanical to biochemical information
PMID: 24481847
3
ITGB1BP2 regulates integrin β1D isoform expression, functions as a negative regulator of FRZB, and is involved in myoblast fusion
PMID: 28300015
4
A missense mutation (c.938C>G) in ITGB1BP2 was identified in a dilated cardiomyopathy patient, though functional significance remains unclear
PMID: 23124043
5
ITGB1BP2 is predictive of symptomatic carotid stenosis and serves as a potential biomarker for atherosclerosis progression
PMID: 33472398
6
ITGB1BP2 is part of a protein signature that distinguishes cervical cancer cases from controls with high sensitivity and specificity
PMID: 30692274
7
ITGB1BP2 is upregulated in Korean patients with moderate-to-severe atopic dermatitis and correlates with cardiovascular disease association
PMID: 39220465
Disease Associationsⓘ20
breast carcinomaOpen Targets
0.04Suggestive
pancreatic adenocarcinomaOpen Targets
0.04Suggestive
dilated cardiomyopathyOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
aortic stenosisOpen Targets
0.02Suggestive
myocardial infarctionOpen Targets
0.02Suggestive
hypertensionOpen Targets
0.01Suggestive
hypertrophic cardiomyopathyOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
cardiomyopathyOpen Targets
0.01Suggestive
heart failureOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
acute myocardial infarctionOpen Targets
0.01Suggestive
persistent truncus arteriosusOpen Targets
0.01Suggestive
AtrophyOpen Targets
0.00Suggestive
atrial fibrillationOpen Targets
0.00Suggestive
cardiovascular diseaseOpen Targets
0.00Suggestive
cardiac hypertrophyOpen Targets
0.00Suggestive
atopic eczemaOpen Targets
0.00Suggestive
obesityOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HSP90AB1Protein interaction100%SMPXProtein interaction91%ITGB1Protein interaction87%PDK3Protein interaction83%NEBShared pathway50%ZBTB42Shared pathway50%
Tissue Expression6 tissues
Heart
100%
Lung
3%
Ovary
3%
Liver
2%
Bone Marrow
2%
Brain
0%
Gene Interaction Network
Click a node to explore
ITGB1BP2HSP90AB1SMPXITGB1PDK3NEBZBTB42
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9UKP3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.16LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.84 [0.62–1.16]
RankingsWhere ITGB1BP2 stands among ~20K protein-coding genes
  • #13,679of 20,598
    Most Researched22
  • #12,057of 17,882
    Most Constrained (LOEUF)1.16
Genes detectedITGB1BP2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients.
PMID: 20017903
BMC Med Genet · 2009
1.00
2
COMP (Cartilage Oligomeric Matrix Protein) Neoepitope: A Novel Biomarker to Identify Symptomatic Carotid Stenosis.
PMID: 33472398
Arterioscler Thromb Vasc Biol · 2021
0.90
3
Identification of Candidate Plasma Protein Biomarkers for Cervical Cancer Using the Multiplex Proximity Extension Assay.
PMID: 30692274
Mol Cell Proteomics · 2019
0.80
4
Proteomic analysis of cardiovascular disease-associated proteins in Korean patients with moderate-to-severe atopic dermatitis.
PMID: 39220465
World Allergy Organ J · 2024
0.70
5
Sensing heart stress.
PMID: 12514714
Nat Med · 2003
0.60