HNRNPA3
Heterogeneous Nuclear Ribonucleoprotein A3
Gene Information Card
| Symbol | HNRNPA3 |
|---|---|
| Full Name | Heterogeneous Nuclear Ribonucleoprotein A3 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q31.2 |
| NCBI Gene ID | 220988 ncbi.nlm.nih.gov/gene/220988 |
| Ensembl ID | ENSG00000170144 |
| UniProt ID | P51991 |
| OMIM ID | 605372 |
| HGNC ID | 24941 |
| Aliases | HNRPA3, FBRNP, hnRNP A3 |
Description
HNRNPA3 encodes a member of the heterogeneous nuclear ribonucleoprotein (hnRNP) family. The protein is involved in pre-mRNA processing, transport, and metabolism. It contains two RNA recognition motifs and a glycine-rich domain. Mutations in HNRNPA3 are associated with multisystem proteinopathy, including amyotrophic lateral sclerosis (ALS) and inclusion body myopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multisystem proteinopathy | Gain-of-function mutations in the prion-like domain promote aggregation | ClinVar, OMIM |
| Amyotrophic lateral sclerosis | Aberrant cytoplasmic aggregation of mutant HNRNPA3 | ClinVar, OMIM |
| Inclusion body myopathy | Protein aggregation in muscle cells due to prion-like domain mutations | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 23.5 | High |
| Heart | 18.2 | Medium |
| Liver | 12.1 | Medium |
| Lung | 15.8 | Medium |
| Skeletal muscle | 20.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 28.4 | High expression |
| HeLa | 22.1 | High expression |
| SH-SY5Y | 19.7 | Medium expression |
| HepG2 | 14.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Asp290Val | Missense | Rare | Gain of toxic function, increased aggregation |
| p.Asp290Ala | Missense | Rare | Gain of toxic function, increased aggregation |
| p.Pro199Leu | Missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Not established for HNRNPA3
Gain of Function (GOF)
Mutations in the prion-like domain (e.g., p.Asp290Val) cause toxic aggregation
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • mRNA processing (GO:0006397) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
| • via spliceosome (GO:0000398) |
Pathways
• Processing of Capped Intron-Containing Pre-mRNA (Reactome: R-HSA-72203)
• mRNA Splicing - Major Pathway (Reactome: R-HSA-72163)
Protein Summary
HNRNPA3 is a 378-amino acid RNA-binding protein with two N-terminal RNA recognition motifs and a C-terminal glycine-rich prion-like domain. It shuttles between nucleus and cytoplasm, participating in pre-mRNA splicing, transport, and stability. Mutations in the prion-like domain promote pathological aggregation linked to neurodegeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HNRNPA3 Knockout HEK293 Cell Line | EDJ-KQ2980 | Human | 220988 | Details Get a Quote |
| HNRNPA3 Knockout A-549 Cell Line | EDJ-KQ24155 | Human | 220988 | Details Get a Quote |
| HNRNPA3 Knockout HCT 116 Cell Line | EDJ-KQ24156 | Human | 220988 | Details Get a Quote |
| HNRNPA3 Knockout HeLa Cell Line | EDJ-KQ24157 | Human | 220988 | Details Get a Quote |
