HNRNPA2B1 Gene: Heterogeneous Nuclear Ribonucleoprotein A2/B1
A key RNA-binding protein involved in RNA processing, telomere maintenance, and implicated in cancer and neurodegenerative disorders.
Gene Information Card
| Symbol | HNRNPA2B1 |
|---|---|
| Full Name | Heterogeneous Nuclear Ribonucleoprotein A2/B1 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p15.2 |
| NCBI Gene ID | 3181 ncbi.nlm.nih.gov/gene/3181 |
| Ensembl ID | ENSG00000122566 |
| UniProt ID | P22626 |
| OMIM ID | 600124 |
| HGNC ID | 5033 |
| Aliases | HNRNPA2, HNRNPB1, HNRPA2B1, ROA2, SNRPB1 |
Description
HNRNPA2B1 encodes two splice variants (A2 and B1) of the heterogeneous nuclear ribonucleoprotein family. This RNA-binding protein is involved in pre-mRNA processing, mRNA transport, telomere maintenance, and regulation of gene expression. It plays a role in the innate immune response by binding to viral RNA and activating downstream signaling. Mutations and altered expression are associated with various cancers and neurodegenerative diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Dysregulation of RNA splicing and telomere maintenance; overexpression promotes proliferation | COSMIC, NCBI Gene |
| Neurodegenerative disorders (e.g., ALS, FTLD) | Aggregation of mutant HNRNPA2B1 protein; altered RNA metabolism | OMIM, ClinVar |
| Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD) | Missense mutations (e.g., D290V) cause protein aggregation and toxicity | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 58.2 | High |
| Lung | 45.1 | High |
| Liver | 42.3 | High |
| Heart | 38.7 | Medium |
| Kidney | 36.5 | Medium |
| Skeletal muscle | 30.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 62.5 | Cervical cancer cell line |
| A549 | 55.3 | Lung cancer cell line |
| HEK293 | 48.9 | Embryonic kidney cell line |
| K562 | 40.1 | Leukemia cell line |
| MCF7 | 35.7 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| D290V | Missense | <0.1% | Protein aggregation; associated with IBMPFD |
| P298L | Missense | <0.1% | Impaired RNA binding; linked to neurodegeneration |
| G357R | Missense | <0.1% | Altered splicing; reported in cancer |
| R225W | Missense | <0.1% | Reduced nuclear localization; pathogenic in ALS |
Mutation functional classification
Loss of Function (LOF)
Mutations impairing RNA binding or nuclear localization (e.g., P298L, R225W) reduce normal splicing and transport functions.
Gain of Function (GOF)
Aggregation-prone mutations (e.g., D290V) confer toxic gain-of-function via protein misfolding.
Dominant Negative (DN)
Mutant HNRNPA2B1 can interfere with wild-type protein function in splicing complexes, leading to dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mRNA splicing |
| • via spliceosome | • mRNA transport |
| • telomere maintenance | • regulation of gene expression |
| • innate immune response | • nucleus |
| • cytoplasm |
Pathways
• mRNA Splicing - Major Pathway
• Telomere Maintenance
• RIG-I-like Receptor Signaling Pathway
• Transport of Mature mRNA
Protein Summary
HNRNPA2B1 is a 353-amino acid protein (isoform A2) with two RNA recognition motifs (RRMs) and a glycine-rich C-terminal domain. It shuttles between nucleus and cytoplasm, binding to RNA to regulate splicing, stability, and localization. The protein also binds telomeric DNA and is involved in telomere elongation. In the cytoplasm, it recognizes viral RNA and activates the RIG-I pathway. Mutations cause protein aggregation and are linked to multisystem proteinopathy and cancer.
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