FRMPD1
FERM and PDZ domain containing 1
Gene Information Card
| Symbol | FRMPD1 |
|---|---|
| Full Name | FERM and PDZ domain containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 22844 ncbi.nlm.nih.gov/gene/22844 |
| Ensembl ID | ENSG00000107242 |
| UniProt ID | Q5T0N5 |
| OMIM ID | 618533 |
| HGNC ID | 23306 |
| Aliases | KIAA0967, PDZD10 |
Description
FRMPD1 (FERM and PDZ domain containing 1) is a protein-coding gene located on chromosome 9q34.3. It encodes a protein containing both FERM and PDZ domains, which are involved in cytoskeletal organization and protein-protein interactions. The gene is expressed in various tissues and has been implicated in cellular signaling and adhesion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Lung | 3.1 | Low |
| Liver | 1.8 | Not detected |
| Kidney | 2.5 | Low |
| Testis | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 2.0 | Low expression |
| HeLa | 1.5 | Low expression |
| K562 | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic mutations | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data
Gain of Function (GOF)
No data
Dominant Negative (DN)
No data
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • cytoskeleton |
| • cell junction |
Pathways
• No specific pathways annotated
Protein Summary
The FRMPD1 protein contains a FERM domain (involved in linking cytoskeletal proteins to the plasma membrane) and a PDZ domain (involved in protein-protein interactions). It may play a role in cell adhesion and signaling, but its precise function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FRMPD1 Knockout HEK293 Cell Line | EDJ-KQ7011 | Human | 22844 | Details Get a Quote |
| FRMPD1 Knockout HeLa Cell Line | EDJ-KQ55644 | Human | 22844 | Details Get a Quote |
| FRMPD1 Knockout A-549 Cell Line | EDJ-KQ64142 | Human | 22844 | Details Get a Quote |
| FRMPD1 Knockout HCT 116 Cell Line | EDJ-KQ72590 | Human | 22844 | Details Get a Quote |
