PLEKHA6
Pleckstrin Homology Domain Containing A6
Gene Information Card
| Symbol | PLEKHA6 |
|---|---|
| Full Name | Pleckstrin Homology Domain Containing A6 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 22874 ncbi.nlm.nih.gov/gene/22874 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | Q9Y2H5 |
| OMIM ID | 607769 |
| HGNC ID | 19200 |
| Aliases | FLJ10324, MGC138207, MGC138209 |
Description
PLEKHA6 (Pleckstrin Homology Domain Containing A6) is a protein-coding gene located on chromosome 1q32.1. The encoded protein contains a pleckstrin homology (PH) domain, which is involved in phosphoinositide binding and membrane targeting. PLEKHA6 is implicated in cellular signaling and cytoskeletal organization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not applicable | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Lung | 3.1 | Low |
| Liver | 1.8 | Not detected |
| Kidney | 4.0 | Low |
| Testis | 6.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.5 | Low expression |
| HeLa | 3.0 | Low expression |
| K562 | 2.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | Not applicable | Not applicable | Not applicable |
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)
| • phosphatidylinositol-4 (GO:0005546) | • lipid binding (GO:0008289) |
| • cytoplasm (GO:0005737) |
Pathways
• No specific pathways annotated in Reactome or KEGG
Protein Summary
The PLEKHA6 protein (UniProt Q9Y2H5) contains a pleckstrin homology (PH) domain that binds phosphoinositides, facilitating membrane localization and involvement in signal transduction. Its exact biological function remains under investigation, but it is thought to play a role in cytoskeletal dynamics and intracellular signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLEKHA6 Knockout HEK293 Cell Line | EDJ-KQ7713 | Human | 22874 | Details Get a Quote |
| PLEKHA6 Knockout A-549 Cell Line | EDJ-KQ33112 | Human | 22874 | Details Get a Quote |
| PLEKHA6 Knockout HCT 116 Cell Line | EDJ-KQ33113 | Human | 22874 | Details Get a Quote |
| PLEKHA6 Knockout HeLa Cell Line | EDJ-KQ33114 | Human | 22874 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
