PLEKHH2: Pleckstrin Homology Domain Containing H2
A gene encoding a protein involved in cell signaling and cytoskeletal organization, with potential implications in cancer and developmental disorders.
Gene Information Card
| Symbol | PLEKHH2 |
|---|---|
| Full Name | Pleckstrin homology domain containing H2 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p21 |
| NCBI Gene ID | 130271 ncbi.nlm.nih.gov/gene/130271 |
| Ensembl ID | ENSG00000162992 |
| UniProt ID | Q8IYI6 |
| OMIM ID | 616559 |
| HGNC ID | 29300 |
| Aliases | FLJ13154, KIAA1926 |
Description
PLEKHH2 (pleckstrin homology domain containing H2) is a protein-coding gene located on chromosome 2p21. The encoded protein contains a pleckstrin homology (PH) domain, which is involved in phosphoinositide binding and membrane targeting, and may play a role in cell signaling, cytoskeletal dynamics, and vesicle trafficking. PLEKHH2 is expressed in various tissues and has been implicated in cancer and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression may affect cell proliferation and migration via PH domain-mediated signaling | COSMIC; limited studies |
| Developmental disorders | Potential role in cytoskeletal organization; mutations may disrupt normal development | OMIM; rare variant associations |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.4 | Embryonic kidney |
| HeLa | 7.8 | Cervical cancer |
| A549 | 6.2 | Lung cancer |
| MCF7 | 5.1 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function |
| c.567G>A (p.Val189Met) | Missense | 0.02% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense variant p.Arg412* likely leads to truncated protein and loss of PH domain function.
Gain of Function (GOF)
No evidence of gain-of-function mutations in PLEKHH2.
Dominant Negative (DN)
No evidence of dominant-negative mutations in PLEKHH2.
View complete mutation data：
Gene Ontology (GO)
| • phospholipid binding (GO:0005543) | • signal transduction (GO:0007165) |
| • membrane (GO:0016020) | • cytoplasm (GO:0005737) |
Pathways
• Phosphoinositide signaling (inferred from PH domain)
• Cytoskeletal regulation (inferred from protein interactions)
Protein Summary
The PLEKHH2 protein (UniProt Q8IYI6) contains a pleckstrin homology (PH) domain that binds phosphoinositides, targeting the protein to cellular membranes. It is involved in signal transduction and cytoskeletal organization. Expression is moderate in brain and testis, lower in other tissues. Mutations are rare; nonsense variants may cause loss of function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLEKHH2 Knockout HEK293 Cell Line | EDJ-KQ9235 | Human | 130271 | Details Get a Quote |
| PLEKHH2 Knockout A-549 Cell Line | EDJ-KQ35817 | Human | 130271 | Details Get a Quote |
| PLEKHH2 Knockout HCT 116 Cell Line | EDJ-KQ35818 | Human | 130271 | Details Get a Quote |
| PLEKHH2 Knockout HeLa Cell Line | EDJ-KQ35819 | Human | 130271 | Details Get a Quote |
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