ABRA (Actin-Binding Rho Activating Protein)
Gene encoding a striated muscle-specific protein involved in actin dynamics and sarcomere organization
Gene Information Card
| Symbol | ABRA |
|---|---|
| Full Name | Actin-Binding Rho Activating Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 8q23.1 |
| NCBI Gene ID | 137735 ncbi.nlm.nih.gov/gene/137735 |
| Ensembl ID | ENSG00000156170 |
| UniProt ID | Q8N9N2 |
| OMIM ID | 609747 |
| HGNC ID | 29523 |
| Aliases | STARS, C14orf49, MGC12966 |
Description
ABRA (actin-binding Rho activating protein) is a striated muscle-specific gene that encodes a protein localized to the sarcomere. It binds actin and activates RhoA signaling, playing a role in actin dynamics, myofibril assembly, and cardiac hypertrophy. Expression is predominantly in heart and skeletal muscle.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiomyopathy, dilated | ABRA overexpression linked to sarcomere disorganization and altered RhoA signaling | OMIM 609747; NCBI Gene |
| Cardiac hypertrophy | ABRA upregulation induces hypertrophic gene program via RhoA/ROCK pathway | PubMed; NCBI Gene |
| Muscle atrophy | Reduced ABRA expression in skeletal muscle atrophy models | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 45.2 | High |
| Skeletal muscle | 38.7 | High |
| Brain | 0.5 | Not detected |
| Liver | 0.2 | Not detected |
| Kidney | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPS-derived) | 52.1 | High expression |
| Skeletal muscle myotubes | 41.5 | High expression |
| HeLa | 0.1 | Not expressed |
| HEK293 | 0.2 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon; likely loss of function |
| c.124C>T (p.Arg42Cys) | missense | <0.01% | Unknown; predicted damaging by SIFT |
| c.367G>A (p.Glu123Lys) | missense | <0.01% | Unknown; predicted benign |
Mutation functional classification
Loss of Function (LOF)
Start codon loss (p.Met1?) likely leads to loss of protein expression.
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)
| • GO:0003779 - actin binding | • GO:0005515 - protein binding |
| • GO:0030036 - actin cytoskeleton organization | • GO:0045214 - sarcomere organization |
| • GO:0051015 - actin filament-based movement | • GO:0035023 - regulation of Rho protein signal transduction |
Pathways
• RhoA signaling pathway (Reactome: R-HSA-194315)
• Striated muscle contraction (Reactome: R-HSA-397014)
Protein Summary
The ABRA protein (UniProt Q8N9N2) is a 375-amino acid actin-binding protein localized to the sarcomere I-band. It contains a conserved N-terminal actin-binding domain and a C-terminal region that interacts with RhoA. ABRA activates RhoA signaling, promoting actin polymerization and sarcomere assembly. It is highly expressed in cardiac and skeletal muscle and is implicated in hypertrophic signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GABRA1 Knockout HEK293 Cell Line | EDJ-KQ3507 | Human | 2554 | Details Get a Quote |
| GABRA6 Knockout HEK293 Cell Line | EDJ-KQ3888 | Human | 2559 | Details Get a Quote |
| GABRA2 Knockout HEK293 Cell Line | EDJ-KQ3900 | Human | 2555 | Details Get a Quote |
| GABRA3 Knockout HEK293 Cell Line | EDJ-KQ4653 | Human | 2556 | Details Get a Quote |
| GABRA5 Knockout HEK293 Cell Line | EDJ-KQ4654 | Human | 2558 | Details Get a Quote |
| GABRA4 Knockout HEK293 Cell Line | EDJ-KQ4661 | Human | 2557 | Details Get a Quote |
| ABRAXAS2 Knockout HEK293 Cell Line | EDJ-KQ7876 | Human | 23172 | Details Get a Quote |
| ABRA Knockout HEK293 Cell Line | EDJ-KQ9393 | Human | 137735 | Details Get a Quote |
| ABRAXAS1 Knockout HEK293 Cell Line | EDJ-KQ9994 | Human | 84142 | Details Get a Quote |
| ABRACL Knockout HEK293 Cell Line | EDJ-KQ12253 | Human | 58527 | Details Get a Quote |
| ABRAXAS1 Knockout A-549 Cell Line | EDJ-KQ36947 | Human | 84142 | Details Get a Quote |
| ABRAXAS1 Knockout HCT 116 Cell Line | EDJ-KQ36948 | Human | 84142 | Details Get a Quote |
| ABRAXAS1 Knockout HeLa Cell Line | EDJ-KQ36949 | Human | 84142 | Details Get a Quote |
| ABRACL Knockout A-549 Cell Line | EDJ-KQ41036 | Human | 58527 | Details Get a Quote |
| ABRACL Knockout HCT 116 Cell Line | EDJ-KQ41037 | Human | 58527 | Details Get a Quote |
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