XIRP2
Xin Actin-Binding Repeat Containing 2
Gene Information Card
| Symbol | XIRP2 |
|---|---|
| Full Name | Xin actin-binding repeat containing 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 2q24.3 |
| NCBI Gene ID | 129446 ncbi.nlm.nih.gov/gene/129446 |
| Ensembl ID | ENSG00000163002 |
| UniProt ID | A4UGR9 |
| OMIM ID | 609775 |
| HGNC ID | 24527 |
| Aliases | CMYA3, KIAA1680, mXinbeta |
Description
XIRP2 (Xin actin-binding repeat containing 2) encodes a protein that localizes to the intercalated discs and costameres of cardiac and skeletal muscle. It contains multiple actin-binding repeats and is involved in maintaining sarcomere integrity and cell-cell adhesion. Mutations in XIRP2 have been associated with dilated cardiomyopathy and other cardiac disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated cardiomyopathy | Disruption of actin-binding and sarcomere stability | ClinVar, OMIM |
| Hypertrophic cardiomyopathy | Potential loss of mechanical integrity at intercalated discs | ClinVar |
| Atrial fibrillation | Altered electrical conduction due to structural defects | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 45.2 | High |
| Skeletal muscle | 28.7 | Medium |
| Testis | 3.1 | Low |
| Brain | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPS-derived) | 52.0 | High expression |
| Skeletal muscle myoblasts | 30.5 | Moderate expression |
| HEK293 | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; associated with dilated cardiomyopathy |
| c.2567A>G (p.Gln856Arg) | Missense | 0.01% | Uncertain significance; possibly damaging |
| c.3456_3457del (p.Glu1152fs) | Frameshift | Very rare | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein and loss of actin-binding ability.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not established; potential dominant-negative effect of truncated proteins on sarcomere assembly.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • cell adhesion |
| • sarcomere organization | • cardiac muscle cell development |
| • intercalated disc |
Pathways
• Cardiac muscle contraction
• Cell-cell adhesion at intercalated discs
• Actin cytoskeleton regulation
Protein Summary
The XIRP2 protein is a 2,525-amino-acid actin-binding protein predominantly expressed in cardiac and skeletal muscle. It contains 16 Xin repeats that mediate actin binding and localizes to intercalated discs, where it contributes to mechanical stability and signal transduction. The protein is essential for maintaining sarcomere integrity and proper cardiac function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| XIRP2 Knockout HEK293 Cell Line | EDJ-KQ9215 | Human | 129446 | Details Get a Quote |
| XIRP2 Knockout HeLa Cell Line | EDJ-KQ58261 | Human | 129446 | Details Get a Quote |
| XIRP2 Knockout A-549 Cell Line | EDJ-KQ66749 | Human | 129446 | Details Get a Quote |
| XIRP2 Knockout HCT 116 Cell Line | EDJ-KQ75157 | Human | 129446 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
