ITGB1BP2 Gene - Integrin Subunit Beta 1 Binding Protein 2
Melusin: A Cardiac-Specific Integrin-Linked Kinase Scaffold Protein
Gene Information Card
| Symbol | ITGB1BP2 |
|---|---|
| Full Name | Integrin Subunit Beta 1 Binding Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq13.1 |
| NCBI Gene ID | 3688 ncbi.nlm.nih.gov/gene/3688 |
| Ensembl ID | ENSG00000101986 |
| UniProt ID | Q9UKP3 |
| OMIM ID | 300362 |
| HGNC ID | 6150 |
| Aliases | Melusin, ITGB1BP2, MGC117247 |
Description
ITGB1BP2 (melusin) encodes a cardiac-specific protein that binds to the cytoplasmic domain of integrin beta 1. It acts as a molecular scaffold, linking integrin signaling to the focal adhesion kinase (FAK) pathway and protecting the heart against pressure overload-induced hypertrophy and dilated cardiomyopathy. The gene is located on the X chromosome and is predominantly expressed in heart and skeletal muscle.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated Cardiomyopathy (DCM) | Loss of melusin impairs integrin-mediated mechanotransduction, leading to reduced FAK activation and increased susceptibility to cardiac dilation under stress. | OMIM #300362; ClinVar; PMID: 17967975 |
| Cardiac Hypertrophy | Melusin deficiency disrupts compensatory hypertrophic signaling, resulting in maladaptive remodeling and heart failure. | PMID: 17967975; PMID: 19608863 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 44.6 | High |
| Skeletal Muscle | 12.3 | Medium |
| Liver | 0.2 | Not detected |
| Brain | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (AC16) | 45.0 | High expression |
| Skeletal muscle myoblasts (HSkMC) | 15.0 | Moderate expression |
| HEK293 | 0.5 | Low/not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.497C>T (p.Thr166Ile) | Missense | <0.01% | Unknown significance; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Loss of melusin protein leads to impaired integrin signaling, reduced FAK phosphorylation, and increased susceptibility to dilated cardiomyopathy under mechanical stress.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Integrin signaling pathway (Reactome: R-HSA-354192)
• Focal adhesion (KEGG: hsa04510)
• Cardiac hypertrophy signaling (GeneCards)
Protein Summary
Melusin (ITGB1BP2) is a 357-amino acid cardiac-specific protein that contains a CHORD domain and a zinc-binding domain. It binds directly to the integrin beta 1 cytoplasmic tail and recruits FAK, thereby activating the FAK/PI3K/Akt survival pathway. Melusin is essential for adaptive cardiac hypertrophy and protection against dilated cardiomyopathy. Its expression is restricted to striated muscle, with highest levels in the heart.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ITGB1BP2 Knockout HEK293 Cell Line | EDJ-KQ8555 | Human | 26548 | Details Get a Quote |
| ITGB1BP2 Knockout A-549 Cell Line | EDJ-KQ34699 | Human | 26548 | Details Get a Quote |
| ITGB1BP2 Knockout HCT 116 Cell Line | EDJ-KQ34700 | Human | 26548 | Details Get a Quote |
| ITGB1BP2 Knockout HeLa Cell Line | EDJ-KQ34701 | Human | 26548 | Details Get a Quote |
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