PARD6A
Par-6 Family Cell Polarity Regulator Alpha
Gene Information Card
| Symbol | PARD6A |
|---|---|
| Full Name | Par-6 Family Cell Polarity Regulator Alpha |
| Gene Type | protein-coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 50852 ncbi.nlm.nih.gov/gene/50852 |
| Ensembl ID | ENSG00000102974 |
| UniProt ID | Q9NPB6 |
| OMIM ID | 607484 |
| HGNC ID | 16244 |
| Aliases | PAR-6A, PAR6A, PAR6C, TIP-40 |
Description
PARD6A encodes a member of the PAR6 family of proteins, which are essential regulators of cell polarity. The protein forms a complex with PAR3 and atypical protein kinase C (aPKC) to establish and maintain apical-basal polarity in epithelial cells, asymmetric cell division, and tight junction formation. It is involved in cellular processes such as migration, proliferation, and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Altered PARD6A expression disrupts polarity complexes, promoting epithelial-mesenchymal transition (EMT) and invasion. | PMID: 21804562 |
| Colorectal Cancer | Loss of PARD6A contributes to loss of cell polarity and tumor progression. | PMID: 23943784 |
| Lung Cancer | Dysregulation of PARD6A affects aPKC signaling and cell polarity, linked to poor prognosis. | PMID: 25636855 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Kidney | 9.8 | Medium |
| Lung | 7.5 | Low |
| Liver | 6.2 | Low |
| Breast | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.4 | Cervical cancer cell line |
| MCF7 | 6.7 | Breast cancer cell line |
| A549 | 5.9 | Lung cancer cell line |
| HEK293 | 7.2 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | <0.1% | Unknown functional impact; rare variant |
| c.482G>A (p.Arg161Gln) | Missense | <0.1% | Reported in COSMIC; potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the PDZ domain may disrupt protein-protein interactions with PAR3 and aPKC, impairing polarity complex formation.
Gain of Function (GOF)
No evidence of gain-of-function mutations in PARD6A.
Dominant Negative (DN)
Truncating or missense variants that retain binding but disrupt downstream signaling could act in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • cell polarity | • tight junction assembly |
| • asymmetric cell division | • protein kinase C binding |
| • cell migration |
Pathways
• PAR polarity pathway
• Tight junction signaling
• Epithelial-to-mesenchymal transition
Protein Summary
PARD6A (Par-6 family cell polarity regulator alpha) is a 376-amino acid protein containing a PDZ domain and a CRIB motif. It localizes to tight junctions and the apical membrane, where it scaffolds the PAR3-aPKC complex to regulate cell polarity. The protein is widely expressed in epithelial tissues and is implicated in cancer progression when dysregulated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PARD6A Knockout HEK293 Cell Line | EDJ-KQ1342 | Human | 50855 | Details Get a Quote |
| PARD6A Knockout A-549 Cell Line | EDJ-KQ19463 | Human | 50855 | Details Get a Quote |
| PARD6A Knockout HCT 116 Cell Line | EDJ-KQ20808 | Human | 50855 | Details Get a Quote |
| PARD6A Knockout HeLa Cell Line | EDJ-KQ20809 | Human | 50855 | Details Get a Quote |
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