PARD6G
Par-6 Family Cell Polarity Regulator Gamma
Gene Information Card
| Symbol | PARD6G |
|---|---|
| Full Name | Par-6 Family Cell Polarity Regulator Gamma |
| Gene Type | Protein coding |
| Chromosomal Location | 18q23 |
| NCBI Gene ID | 84552 ncbi.nlm.nih.gov/gene/84552 |
| Ensembl ID | ENSG00000178184 |
| UniProt ID | Q9BYX2 |
| OMIM ID | 608975 |
| HGNC ID | 16252 |
| Aliases | PAR-6 gamma, PAR6G, PAR6GAMMA |
Description
PARD6G (Par-6 Family Cell Polarity Regulator Gamma) is a protein-coding gene that encodes a member of the Par-6 family of proteins. These proteins are essential for establishing and maintaining cell polarity, regulating tight junction formation, and controlling asymmetric cell division. PARD6G interacts with other polarity proteins such as PARD3 and atypical protein kinase C (aPKC) to form a complex that localizes to the apical membrane in epithelial cells. The gene is located on chromosome 18q23 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered PARD6G expression may disrupt cell polarity and promote tumorigenesis | Limited evidence from expression studies |
| Colorectal cancer | Dysregulation of Par-6 family members implicated in polarity loss and invasion | Inferred from pathway analysis |
| Epithelial ovarian cancer | Potential role in tight junction disruption and metastasis | Inferred from functional studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Lung | 8.9 | Low |
| Liver | 6.1 | Low |
| Testis | 15.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.0 | Embryonic kidney cells |
| HeLa | 11.5 | Cervical cancer cells |
| MCF7 | 9.8 | Breast cancer cells |
| A549 | 7.2 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437C>T (p.Pro146Leu) | Missense | 0.001% (gnomAD) | Unknown functional effect |
| c.622G>A (p.Gly208Arg) | Missense | 0.002% (gnomAD) | Unknown functional effect |
| c.784_785insA (p.Thr262AsnfsTer5) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr262AsnfsTer5) are predicted to cause premature truncation and loss of protein function.
Gain of Function (GOF)
No gain-of-function mutations reported in PARD6G.
Dominant Negative (DN)
No dominant-negative mutations characterized for PARD6G.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell junction organization (Reactome: R-HSA-446728)
• Tight junction interactions (Reactome: R-HSA-420029)
• Par-6/aPKC polarity complex (Reactome: R-HSA-421270)
Protein Summary
The PARD6G protein (UniProt Q9BYX2) is a 376-amino acid member of the Par-6 family. It contains a PDZ domain and a CRIB (Cdc42/Rac interactive binding) domain, which mediate interactions with Cdc42, PARD3, and aPKC. The protein localizes to the apical membrane in epithelial cells and is crucial for tight junction assembly and asymmetric cell division. Its expression is regulated in a tissue-specific manner, and alterations may contribute to cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PARD6G Knockout HEK293 Cell Line | EDJ-KQ1343 | Human | 84552 | Details Get a Quote |
| PARD6G Knockout A-549 Cell Line | EDJ-KQ20810 | Human | 84552 | Details Get a Quote |
| PARD6G Knockout HCT 116 Cell Line | EDJ-KQ20811 | Human | 84552 | Details Get a Quote |
| PARD6G Knockout HeLa Cell Line | EDJ-KQ20812 | Human | 84552 | Details Get a Quote |
