PHLDA2
Pleckstrin Homology Like Domain Family A Member 2
Gene Information Card
| Symbol | PHLDA2 |
|---|---|
| Full Name | Pleckstrin Homology Like Domain Family A Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.4 |
| NCBI Gene ID | 7262 ncbi.nlm.nih.gov/gene/7262 |
| Ensembl ID | ENSG00000178209 |
| UniProt ID | Q53GA4 |
| OMIM ID | 602231 |
| HGNC ID | 8933 |
| Aliases | BWR1C, HLDA2, IPL, TSSC3 |
Description
PHLDA2 (pleckstrin homology like domain family A member 2) is a maternally expressed imprinted gene located on chromosome 11p15.4. It encodes a small protein containing a pleckstrin homology (PH) domain, which is involved in intracellular signaling and apoptosis. PHLDA2 is primarily expressed in the placenta and plays a critical role in placental development and fetal growth regulation. Dysregulation of PHLDA2 expression is associated with Beckwith-Wiedemann syndrome and various cancers, where it may function as a tumor suppressor.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Beckwith-Wiedemann syndrome | Loss of imprinting or altered expression of PHLDA2 contributes to overgrowth and tumor predisposition | OMIM #130650 |
| Breast cancer | Reduced PHLDA2 expression correlates with poor prognosis; potential tumor suppressor | COSMIC, PubMed |
| Hepatocellular carcinoma | Downregulation of PHLDA2 promotes cell proliferation and invasion | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | High | High |
| Adrenal gland | Low | Low |
| Kidney | Low | Low |
| Liver | Low | Low |
| Lung | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | Low | Embryonic kidney cell line |
| HeLa | Low | Cervical cancer cell line |
| MCF7 | Low | Breast cancer cell line |
| HepG2 | Low | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Unknown functional effect |
| c.100C>T | Nonsense | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • apoptotic process | • intracellular signal transduction |
| • phosphatidylinositol binding | • pleckstrin homology domain binding |
| • cytoplasm |
Pathways
• Apoptosis
• PI3K/Akt signaling
Protein Summary
The PHLDA2 protein is a small (152 amino acids) intracellular protein containing a pleckstrin homology (PH) domain. It is involved in apoptosis and cell growth regulation, likely through interactions with phosphoinositides and signaling proteins. The protein is predominantly expressed in the placenta and is imprinted with maternal allele expression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PHLDA2 Knockout HEK293 Cell Line | EDJ-KQ3748 | Human | 7262 | Details Get a Quote |
| PHLDA2 Knockout A-549 Cell Line | EDJ-KQ25822 | Human | 7262 | Details Get a Quote |
| PHLDA2 Knockout HCT 116 Cell Line | EDJ-KQ25823 | Human | 7262 | Details Get a Quote |
| PHLDA2 Knockout HeLa Cell Line | EDJ-KQ25824 | Human | 7262 | Details Get a Quote |
