PDZD11 Gene
PDZ Domain Containing 11
Gene Information Card
| Symbol | PDZD11 |
|---|---|
| Full Name | PDZ Domain Containing 11 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp11.23 |
| NCBI Gene ID | 51248 ncbi.nlm.nih.gov/gene/51248 |
| Ensembl ID | ENSG00000147180 |
| UniProt ID | Q5EBL8 |
| OMIM ID | 300614 |
| HGNC ID | 30195 |
| Aliases | PDZK11, MGC13170 |
Description
PDZD11 encodes a protein containing a PDZ domain, which is involved in protein-protein interactions, often mediating scaffolding and signaling complexes. The gene is located on the X chromosome and is broadly expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Kidney | 9.8 | Medium |
| Liver | 7.5 | Low |
| Lung | 6.2 | Low |
| Brain | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 10.5 | Medium expression |
| K562 | 8.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown effect |
| c.100C>T | Synonymous | <0.01% | No protein change |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • PDZ domain binding |
| • cytoplasm | • cell junction |
Pathways
• No specific pathways curated
Protein Summary
The PDZD11 protein is a small PDZ domain-containing protein that likely functions as an adaptor or scaffold, facilitating protein interactions at cellular junctions or signaling complexes. Its exact biological role remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDZD11 Knockout HEK293 Cell Line | EDJ-KQ10996 | Human | 51248 | Details Get a Quote |
| PDZD11 Knockout A-549 Cell Line | EDJ-KQ38845 | Human | 51248 | Details Get a Quote |
| PDZD11 Knockout HCT 116 Cell Line | EDJ-KQ38846 | Human | 51248 | Details Get a Quote |
| PDZD11 Knockout HeLa Cell Line | EDJ-KQ38847 | Human | 51248 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
