PHB2 (Prohibitin 2)
Mitochondrial inner membrane scaffold protein involved in mitochondrial biogenesis, apoptosis, and cell cycle regulation.
Gene Information Card
| Symbol | PHB2 |
|---|---|
| Full Name | Prohibitin 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 11331 ncbi.nlm.nih.gov/gene/11331 |
| Ensembl ID | ENSG00000111247 |
| UniProt ID | Q99623 |
| OMIM ID | 610705 |
| HGNC ID | 8913 |
| Aliases | BAP, REA, HPROH, D6S2183E, MGC111111 |
Description
PHB2 encodes prohibitin 2, a mitochondrial inner membrane protein that forms a ring-like complex with prohibitin 1 (PHB1). This complex acts as a scaffold for mitochondrial cristae morphogenesis, protein quality control, and lipid metabolism. PHB2 also shuttles to the nucleus to repress estrogen receptor alpha (ERα) transcriptional activity and regulate cell cycle progression. It is essential for mitochondrial function and has been implicated in cancer, aging, and neurodegenerative diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss of PHB2 enhances ERα signaling and promotes proliferation; reduced expression correlates with poor prognosis. | ClinVar, NCBI |
| Prostate cancer | PHB2 downregulation is associated with increased cell migration and invasion. | NCBI, COSMIC |
| Mitochondrial encephalopathy | PHB2 mutations impair mitochondrial cristae structure and respiratory chain function. | OMIM, ClinVar |
| Hepatocellular carcinoma | PHB2 overexpression linked to tumor growth and resistance to apoptosis. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 32.5 | High |
| Skeletal muscle | 28.1 | High |
| Liver | 24.7 | High |
| Brain | 18.3 | Medium |
| Kidney | 22.0 | High |
| Lung | 15.6 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 35.2 | Cervical cancer cell line; high expression |
| MCF7 | 28.9 | Breast cancer cell line; moderate expression |
| HepG2 | 31.0 | Hepatocellular carcinoma; high expression |
| SH-SY5Y | 20.5 | Neuroblastoma; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.404C>T (p.Pro135Leu) | Missense | <0.01% | Impaired mitochondrial cristae formation; associated with encephalopathy |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression; linked to breast cancer |
| c.682G>A (p.Glu228Lys) | Missense | <0.01% | Reduced ERα repression; potential gain-of-function in proliferation |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt mitochondrial localization or complex assembly (e.g., p.Pro135Leu) lead to mitochondrial dysfunction and reduced cell viability.
Gain of Function (GOF)
p.Glu228Lys may enhance nuclear translocation and alter transcriptional repression, promoting cell proliferation.
Dominant Negative (DN)
Not well characterized; some missense variants may interfere with PHB1-PHB2 complex formation.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Mitochondrial protein import (REACT_111102)
• Estrogen signaling pathway (KEGG hsa04915)
• Apoptosis (KEGG hsa04210)
Protein Summary
Prohibitin 2 (PHB2) is a 299-amino-acid protein with a conserved prohibitin domain. It localizes to the mitochondrial inner membrane where it forms a large ring complex (~1 MDa) with PHB1. This complex stabilizes mitochondrial cristae, chaperones newly imported proteins, and regulates lipid metabolism. In the nucleus, PHB2 interacts with estrogen receptor alpha and represses its transcriptional activity. PHB2 is ubiquitously expressed with highest levels in heart, skeletal muscle, and liver. Post-translational modifications include phosphorylation and acetylation, which modulate its subcellular localization and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPHB2 Knockout HEK293 Cell Line | EDJ-KQ2329 | Human | 2048 | Details Get a Quote |
| EPHB2 Knockout HCT 116 Cell Line | EDJ-KQ21402 | Human | 2048 | Details Get a Quote |
| EPHB2 Knockout A-549 Cell Line | EDJ-KQ22725 | Human | 2048 | Details Get a Quote |
| EPHB2 Knockout HeLa Cell Line | EDJ-KQ22727 | Human | 2048 | Details Get a Quote |
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