ELAVL4 Gene - ELAV Like RNA Binding Protein 4
Neuronal RNA-binding protein involved in post-transcriptional regulation and neurodevelopment
Gene Information Card
| Symbol | ELAVL4 |
|---|---|
| Full Name | ELAV like RNA binding protein 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p33 |
| NCBI Gene ID | 1996 ncbi.nlm.nih.gov/gene/1996 |
| Ensembl ID | ENSG00000162374 |
| UniProt ID | P26378 |
| OMIM ID | 168360 |
| HGNC ID | 3313 |
| Aliases | HuD, Hu-antigen D, paraneoplastic encephalomyelitis antigen HuD |
Description
ELAVL4 (ELAV like RNA binding protein 4) encodes a member of the ELAV family of RNA-binding proteins, specifically the neuronal HuD protein. It binds to AU-rich elements in the 3' UTR of target mRNAs, regulating their stability and translation. ELAVL4 is predominantly expressed in neurons and plays critical roles in neurogenesis, synaptic plasticity, and neuronal differentiation. It is also a target of autoantibodies in paraneoplastic neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Paraneoplastic encephalomyelitis | Autoantibodies against HuD (ELAVL4) target neuronal RNA-binding proteins, leading to neurological symptoms in patients with small cell lung cancer or neuroblastoma. | ClinVar, OMIM |
| Small cell lung cancer (associated autoimmunity) | Tumor expression of ELAVL4 triggers immune response; anti-Hu antibodies cross-react with neuronal ELAVL4. | OMIM, NCBI |
| Neuroblastoma | ELAVL4 is overexpressed in neuroblastoma and may contribute to tumor cell differentiation and survival. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 32.5 | High |
| Adrenal gland | 8.2 | Medium |
| Testis | 3.1 | Low |
| Lung | 0.9 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 45.6 | High expression; used as model for neuronal differentiation |
| SK-N-BE(2) (neuroblastoma) | 38.2 | High expression |
| A549 (lung carcinoma) | 1.2 | Low expression |
| HEK293 (embryonic kidney) | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; predicted to cause nonsense-mediated decay |
| c.567G>A (p.Glu189Lys) | Missense | <0.01% | Unknown; rare variant in population databases |
| c.890_891insA (p.Asn297Lysfs*5) | Frameshift | <0.01% | Loss of function; truncation of RNA-binding domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in ELAVL4 are predicted to result in loss of RNA-binding activity and reduced protein expression, potentially impairing neuronal mRNA regulation.
Gain of Function (GOF)
No gain-of-function mutations have been reported in ELAVL4.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for ELAVL4.
View complete mutation data：
Gene Ontology (GO)
Pathways
• mRNA surveillance pathway (Reactome: R-HSA-72163)
• Regulation of mRNA stability by AU-rich elements (Reactome: R-HSA-450531)
• Neuronal system (Reactome: R-HSA-112316)
Protein Summary
ELAVL4 (HuD) is a 380-amino acid RNA-binding protein containing three RRM (RNA recognition motif) domains. It binds to AU-rich elements in the 3' UTR of target mRNAs, enhancing their stability and translation. HuD is essential for neuronal development, synaptic plasticity, and memory formation. It is highly expressed in the brain and peripheral nervous system. In disease, it is a major autoantigen in paraneoplastic encephalomyelitis and is overexpressed in neuroblastoma.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ELAVL4 Knockout HEK293 Cell Line | EDJ-KQ3438 | Human | 1996 | Details Get a Quote |
| ELAVL4 Knockout HeLa Cell Line | EDJ-KQ53154 | Human | 1996 | Details Get a Quote |
| ELAVL4 Knockout A-549 Cell Line | EDJ-KQ61628 | Human | 1996 | Details Get a Quote |
| ELAVL4 Knockout HCT 116 Cell Line | EDJ-KQ70113 | Human | 1996 | Details Get a Quote |
