HOMER2
Homer scaffold protein 2
Gene Information Card
| Symbol | HOMER2 |
|---|---|
| Full Name | homer scaffold protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q24.3 |
| NCBI Gene ID | 9455 ncbi.nlm.nih.gov/gene/9455 |
| Ensembl ID | ENSG00000137869 |
| UniProt ID | Q9NSB8 |
| OMIM ID | 604799 |
| HGNC ID | 17513 |
| Aliases | CPD, HOMER-2, Vesl-2 |
Description
HOMER2 encodes a member of the Homer family of scaffold proteins that regulate group I metabotropic glutamate receptor (mGluR) signaling and synaptic plasticity. The protein contains an N-terminal Ena/VASP homology 1 (EVH1) domain that binds proline-rich motifs in target proteins and a C-terminal coiled-coil domain mediating oligomerization. HOMER2 is involved in calcium signaling, dendritic spine morphogenesis, and neuronal development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered HOMER2 expression may disrupt mGluR signaling and synaptic connectivity, contributing to disease pathophysiology. | PMID: 20628055 |
| Autism spectrum disorder | Rare variants in HOMER2 have been identified in ASD cohorts, potentially affecting synaptic scaffolding. | PMID: 22495306 |
| Epilepsy | HOMER2 knockout mice show increased seizure susceptibility, suggesting a role in neuronal excitability. | PMID: 17634366 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 20.1 | High |
| Testis | 5.3 | Medium |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 12.5 | Neuronal cell line |
| HEK 293 | 2.1 | Low expression |
| U-87 MG | 1.5 | Glioblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of function |
| c.457C>T (p.Arg153Trp) | missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function variants in HOMER2 are rare and may impair synaptic scaffolding.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
Dominant-negative effects have not been described for HOMER2.
View complete mutation data：
Gene Ontology (GO)
| • synaptic signaling | • dendrite morphogenesis |
| • protein homooligomerization | • G protein-coupled receptor binding |
Pathways
• Glutamatergic synapse
• Long-term potentiation
• Neuroactive ligand-receptor interaction
Protein Summary
HOMER2 is a 354-amino acid scaffold protein that links metabotropic glutamate receptors to intracellular calcium stores and signaling complexes. It is highly expressed in the brain and plays a critical role in synaptic plasticity and neuronal development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HOMER2 Knockout HEK293 Cell Line | EDJ-KQ1528 | Human | 9455 | Details Get a Quote |
| HOMER2 Knockout A-549 Cell Line | EDJ-KQ21174 | Human | 9455 | Details Get a Quote |
| HOMER2 Knockout HeLa Cell Line | EDJ-KQ21175 | Human | 9455 | Details Get a Quote |
| HOMER2 Knockout HCT 116 Cell Line | EDJ-KQ72110 | Human | 9455 | Details Get a Quote |
