FRG1 Gene (FSHD Region Gene 1)
A gene associated with facioscapulohumeral muscular dystrophy and potential roles in RNA processing and muscle development.
Gene Information Card
| Symbol | FRG1 |
|---|---|
| Full Name | FSHD Region Gene 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q35.2 |
| NCBI Gene ID | 2483 ncbi.nlm.nih.gov/gene/2483 |
| Ensembl ID | ENSG00000109536 |
| UniProt ID | Q14331 |
| OMIM ID | 601278 |
| HGNC ID | 3954 |
| Aliases | FSHD region gene 1 protein, FRG1A, FRG1B |
Description
FRG1 (FSHD Region Gene 1) is a protein-coding gene located on chromosome 4q35.2, a region frequently associated with facioscapulohumeral muscular dystrophy (FSHD). The encoded protein is involved in RNA processing, pre-mRNA splicing, and may play a role in muscle development and maintenance. Overexpression of FRG1 in animal models leads to a muscular dystrophy phenotype, suggesting a pathogenic role in FSHD. The gene is conserved across species and expressed in multiple tissues, with highest levels in skeletal muscle and heart.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Facioscapulohumeral Muscular Dystrophy (FSHD) | Overexpression of FRG1 leads to altered splicing of specific pre-mRNAs, disrupting muscle cell function and causing dystrophic changes. | ClinVar, OMIM, NCBI |
| Muscular Dystrophy, Duchenne-like (rare association) | Potential dysregulation of FRG1 expression may contribute to muscle degeneration, though evidence is limited. | NCBI, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal Muscle | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Brain | 4.1 | Low |
| Liver | 2.7 | Low |
| Kidney | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 6.2 | Cervical adenocarcinoma cell line |
| HEK293 | 5.8 | Embryonic kidney cells |
| K562 | 4.0 | Leukemia cell line |
| A549 | 3.9 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Likely loss of start codon, may affect protein expression |
| c.124C>T (p.Arg42Cys) | Missense | Rare | Unknown functional impact |
| c.287G>A (p.Arg96Gln) | Missense | Rare | Reported in FSHD patients, potential splicing alteration |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in FRG1 are rare and not well characterized; complete loss may be incompatible with normal development.
Gain of Function (GOF)
Overexpression of wild-type FRG1 is considered a gain-of-function mechanism in FSHD, leading to aberrant splicing and muscle pathology.
Dominant Negative (DN)
No dominant-negative mutations have been reported for FRG1.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • nucleic acid binding |
| • mRNA processing | • spliceosomal complex |
| • nucleus | • cytoplasm |
Pathways
• mRNA Splicing - Major Pathway
• RNA Polymerase II Transcription
Protein Summary
The FRG1 protein is a 258-amino acid nuclear and cytoplasmic protein that binds RNA and is involved in pre-mRNA splicing. It contains a conserved RNA recognition motif (RRM) and interacts with spliceosomal components. Overexpression of FRG1 disrupts alternative splicing of specific genes, including those involved in muscle structure and function, contributing to the pathogenesis of facioscapulohumeral muscular dystrophy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FRG1 Knockout HEK293 Cell Line | EDJ-KQ4631 | Human | 2483 | Details Get a Quote |
| FRG1 Knockout A-549 Cell Line | EDJ-KQ26067 | Human | 2483 | Details Get a Quote |
| FRG1 Knockout HCT 116 Cell Line | EDJ-KQ27311 | Human | 2483 | Details Get a Quote |
| FRG1 Knockout HeLa Cell Line | EDJ-KQ27312 | Human | 2483 | Details Get a Quote |
