PARD3B
Par-3 Family Cell Polarity Regulator Beta
Gene Information Card
| Symbol | PARD3B |
|---|---|
| Full Name | Par-3 Family Cell Polarity Regulator Beta |
| Gene Type | protein-coding |
| Chromosomal Location | 2q33.3 |
| NCBI Gene ID | 117583 ncbi.nlm.nih.gov/gene/117583 |
| Ensembl ID | ENSG00000163083 |
| UniProt ID | Q8TEW0 |
| OMIM ID | 614745 |
| HGNC ID | 16145 |
| Aliases | PAR3B, PAR3beta, ASIP2, MGC138290 |
Description
PARD3B encodes a member of the Par-3 family of cell polarity regulators. The protein localizes to tight junctions and is involved in asymmetric cell division, cell polarity establishment, and junctional complex assembly. It interacts with atypical protein kinase C (aPKC) and other polarity proteins to regulate epithelial and neuronal polarity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression may disrupt tight junction integrity and promote invasion | PMID: 23431147 |
| Colorectal cancer | Loss of PARD3B correlates with poor differentiation and metastasis | PMID: 25652264 |
| Schizophrenia | Genetic variants in PARD3B associated with risk in GWAS | PMID: 21926972 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Kidney | 6.5 | Medium |
| Lung | 5.1 | Low |
| Breast | 4.3 | Low |
| Colon | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 5.0 | Moderate expression |
| HEK293 (embryonic kidney) | 7.2 | Higher expression |
| HCT116 (colorectal cancer) | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% in gnomAD | Predicted loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% in gnomAD | Predicted loss of function |
| c.2345A>G (p.Asn782Ser) | Missense | 0.02% in gnomAD | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense variants (p.Arg412*, p.Trp189*) are predicted to cause loss of function through premature termination.
Gain of Function (GOF)
No gain-of-function mutations reported in COSMIC or ClinVar.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT:1474244 – Tight junction interactions
• REACT:1474250 – Cell-cell junction organization
• REACT:1474260 – Asymmetric cell division
Protein Summary
PARD3B is a 1203-amino-acid protein containing three PDZ domains and a conserved aPKC-binding region. It localizes to tight junctions and the apical membrane in epithelial cells, where it recruits aPKC and other polarity determinants. In neurons, it regulates axon specification and dendritic spine formation. The protein is widely expressed, with highest levels in brain and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PARD3B Knockout HEK293 Cell Line | EDJ-KQ14680 | Human | 117583 | Details Get a Quote |
| PARD3B Knockout A-549 Cell Line | EDJ-KQ44976 | Human | 117583 | Details Get a Quote |
| PARD3B Knockout HeLa Cell Line | EDJ-KQ44977 | Human | 117583 | Details Get a Quote |
| PARD3B Knockout HCT 116 Cell Line | EDJ-KQ74927 | Human | 117583 | Details Get a Quote |
