FRMPD4
FERM and PDZ domain containing 4
Gene Information Card
| Symbol | FRMPD4 |
|---|---|
| Full Name | FERM and PDZ domain containing 4 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq22.1 |
| NCBI Gene ID | 9758 ncbi.nlm.nih.gov/gene/9758 |
| Ensembl ID | ENSG00000147180 |
| UniProt ID | Q14CM0 |
| OMIM ID | 300838 |
| HGNC ID | 29006 |
| Aliases | PDZD10, KIAA0317 |
Description
FRMPD4 encodes a protein containing FERM and PDZ domains, involved in synaptic scaffolding and signaling. Mutations in this gene are associated with X-linked intellectual disability (XLID) and may affect dendritic spine morphology and synaptic plasticity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability (XLID) | Loss-of-function mutations disrupt PDZ-mediated scaffolding at synapses, impairing synaptic transmission and plasticity. | ClinVar, OMIM #300838 |
| Intellectual developmental disorder, X-linked 104 (MRX104) | Nonsense and missense variants lead to truncated or dysfunctional protein, affecting neuronal development. | OMIM #300838, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Medium |
| Testis | 2.1 | Low |
| Lung | 0.8 | Not detected |
| Liver | 0.3 | Not detected |
| Kidney | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 3.4 | Neuronal model |
| HEK293 | 0.2 | Low expression |
| HeLa | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.226C>T (p.Arg76*) | Nonsense | Rare | Loss of function; truncated protein lacking PDZ domain |
| c.1015G>A (p.Gly339Arg) | Missense | Rare | Impaired protein stability and synaptic localization |
| c.1444_1445del (p.Leu482Valfs*12) | Frameshift | Rare | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein lacking functional domains, causing X-linked intellectual disability.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; disease is X-linked recessive.
View complete mutation data：
Gene Ontology (GO)
| • synapse assembly | • dendritic spine morphogenesis |
| • PDZ domain binding | • protein homodimerization activity |
| • synaptic transmission | • glutamatergic |
Pathways
• Synaptic scaffolding (Reactome: R-HSA-6794362)
• Glutamatergic synapse (KEGG: hsa04724)
Protein Summary
FRMPD4 is a 1,204-amino acid protein with an N-terminal FERM domain and a C-terminal PDZ domain. It localizes to postsynaptic densities and interacts with PSD-95 family proteins to regulate synaptic receptor clustering and dendritic spine stability. Loss of function leads to intellectual disability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FRMPD4 Knockout HEK293 Cell Line | EDJ-KQ6733 | Human | 9758 | Details Get a Quote |
| FRMPD4 Knockout HeLa Cell Line | EDJ-KQ55248 | Human | 9758 | Details Get a Quote |
| FRMPD4 Knockout A-549 Cell Line | EDJ-KQ63726 | Human | 9758 | Details Get a Quote |
| FRMPD4 Knockout HCT 116 Cell Line | EDJ-KQ72187 | Human | 9758 | Details Get a Quote |
