STAU2: Staufen Double-Stranded RNA Binding Protein 2
A key regulator of mRNA transport, localization, and translation in neurons and germ cells.
Gene Information Card
| Symbol | STAU2 |
|---|---|
| Full Name | Staufen double-stranded RNA binding protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q13.3 |
| NCBI Gene ID | 27067 ncbi.nlm.nih.gov/gene/27067 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | Q9NUL3 |
| OMIM ID | 603444 |
| HGNC ID | 11371 |
| Aliases | STAU2, Staufen2, 60S ribosomal subunit-associated protein, MGC10731 |
Description
STAU2 encodes a member of the Staufen family of double-stranded RNA (dsRNA)-binding proteins. The protein is involved in mRNA transport, localization, and translation, particularly in neurons and germ cells. It plays a role in dendritic RNA localization, synaptic plasticity, and early embryonic development. STAU2 contains multiple dsRNA-binding domains and a microtubule-binding domain, facilitating its function in RNA granule formation and transport.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Disruption of STAU2-mediated mRNA transport in neurons leads to impaired synaptic function and cognitive deficits. | ClinVar, OMIM |
| Autism spectrum disorder | STAU2 variants may affect dendritic RNA localization and synaptic plasticity. | ClinVar |
| Schizophrenia | Altered STAU2 expression linked to dysregulated mRNA transport in prefrontal cortex. | NCBI Gene, PubMed |
| Cancer (various) | STAU2 overexpression in some tumors may promote cell proliferation and migration via altered RNA metabolism. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 8.3 | Medium |
| Ovary | 5.1 | Medium |
| Lung | 2.4 | Low |
| Liver | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | High expression; used in neuronal differentiation studies |
| HeLa (cervical carcinoma) | 6.8 | Moderate expression |
| HEK293 (embryonic kidney) | 4.5 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.001% | Altered RNA binding affinity; associated with intellectual disability |
| c.567_569del (p.Lys189del) | In-frame deletion | 0.0005% | Disrupts dsRNA-binding domain; potential loss of function |
| c.2101G>A (p.Gly701Arg) | Missense | 0.002% | Reported in autism spectrum disorder; functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
Deletions or missense mutations in dsRNA-binding domains reduce mRNA binding and transport.
Gain of Function (GOF)
Not well characterized; overexpression in some cancers may enhance RNA granule formation.
Dominant Negative (DN)
Truncating mutations may interfere with wild-type STAU2 function in RNA granules.
View complete mutation data：
Gene Ontology (GO)
| • double-stranded RNA binding | • mRNA binding |
| • RNA transport | • translation regulator activity |
| • microtubule binding | • cytoplasmic transport |
| • dendrite morphogenesis | • synaptic plasticity |
Pathways
• mRNA transport (Reactome R-HSA-72163)
• Translation regulation (Reactome R-HSA-72766)
• Neuronal system (Reactome R-HSA-112316)
Protein Summary
STAU2 is a 479-amino acid protein containing three double-stranded RNA-binding domains (dsRBDs) and a microtubule-binding domain. It localizes to RNA granules in dendrites and axons, where it mediates mRNA transport and translational control. The protein interacts with other RNA-binding proteins and motor proteins to regulate localization of specific mRNAs, including those involved in synaptic function. STAU2 is essential for proper neuronal development and plasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STAU2 Knockout HEK293 Cell Line | EDJ-KQ8661 | Human | 27067 | Details Get a Quote |
| STAU2 Knockout A-549 Cell Line | EDJ-KQ34831 | Human | 27067 | Details Get a Quote |
| STAU2 Knockout HCT 116 Cell Line | EDJ-KQ34832 | Human | 27067 | Details Get a Quote |
| STAU2 Knockout HeLa Cell Line | EDJ-KQ34833 | Human | 27067 | Details Get a Quote |
