FRMPD2
FERM and PDZ Domain Containing 2
Gene Information Card
| Symbol | FRMPD2 |
|---|---|
| Full Name | FERM and PDZ domain containing 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q11.22 |
| NCBI Gene ID | 143162 ncbi.nlm.nih.gov/gene/143162 |
| Ensembl ID | ENSG00000119915 |
| UniProt ID | Q5T5X7 |
| OMIM ID | 614144 |
| HGNC ID | 23395 |
| Aliases | KIAA0315, PDZD6 |
Description
FRMPD2 (FERM and PDZ domain containing 2) is a protein-coding gene located on chromosome 10q11.22. The encoded protein contains FERM and PDZ domains, suggesting a role in membrane-associated signaling and protein-protein interactions. FRMPD2 is involved in cellular processes such as cell adhesion and cytoskeletal organization. Expression is observed in various tissues, with notable levels in the brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.5 | Medium |
| Testis | 6.2 | Medium |
| Lung | 3.1 | Low |
| Liver | 1.8 | Low |
| Kidney | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.0 | Moderate expression |
| HeLa | 2.1 | Low expression |
| K562 | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • PDZ domain binding |
| • FERM domain binding | • cell adhesion |
| • cytoskeleton organization |
Pathways
• No curated pathways
Protein Summary
FRMPD2 encodes a protein with FERM and PDZ domains, which are involved in linking membrane proteins to the cytoskeleton and in signal transduction. The protein is predicted to localize to the plasma membrane and may play a role in cell adhesion and polarity. Expression data suggest moderate levels in brain and testis, but functional studies are limited.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FRMPD2 Knockout HEK293 Cell Line | EDJ-KQ10315 | Human | 143162 | Details Get a Quote |
| FRMPD2 Knockout HeLa Cell Line | EDJ-KQ58482 | Human | 143162 | Details Get a Quote |
| FRMPD2 Knockout A-549 Cell Line | EDJ-KQ66971 | Human | 143162 | Details Get a Quote |
| FRMPD2 Knockout HCT 116 Cell Line | EDJ-KQ75370 | Human | 143162 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
