PARD3: Par-3 Family Cell Polarity Regulator

A key scaffolding protein in cell polarity, tight junction assembly, and asymmetric cell division.

Gene Information Card

Symbol PARD3
Full Name Par-3 Family Cell Polarity Regulator
Gene Type protein-coding
Chromosomal Location 10p11.22
NCBI Gene ID 56288 ncbi.nlm.nih.gov/gene/56288
Ensembl ID ENSG00000120162
UniProt ID Q8TEW0
OMIM ID 606745
HGNC ID 16151
Aliases PAR3, ASIP, PAR-3, PARD3A, PAR3alpha, PAR3beta

Description

PARD3 encodes a scaffold protein that localizes to tight junctions and is essential for establishing and maintaining apical-basal cell polarity. It interacts with atypical protein kinase C (aPKC) and PAR6 to form the PAR complex, which regulates asymmetric cell division, cell migration, and junctional integrity. PARD3 is widely expressed in epithelial and neuronal tissues.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Breast cancer Loss of PARD3 disrupts tight junctions and promotes epithelial-mesenchymal transition (EMT), contributing to invasion and metastasis. PMID: 23382219; COSMIC
Lung adenocarcinoma PARD3 downregulation correlates with poor prognosis and increased cell migration via altered polarity signaling. PMID: 25944712; NCBI Gene
Colorectal cancer Reduced PARD3 expression is associated with loss of cell polarity and tumor progression. PMID: 27562873; ClinVar
Neurodevelopmental disorders PARD3 variants have been implicated in autism spectrum disorder and intellectual disability through disrupted neuronal polarity. PMID: 27824329; OMIM

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 28.5 High
Kidney 18.2 Medium
Lung 12.1 Medium
Breast 9.8 Medium
Liver 6.3 Low
Cell Line Expression
Cell Line nTPM Notes
HeLa 15.4 Cervical cancer cell line
A549 11.2 Lung adenocarcinoma cell line
MCF7 9.7 Breast cancer cell line
HEK293 22.1 Embryonic kidney cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1234C>T (p.Arg412*) Nonsense <0.1% Loss of function; truncation of PDZ domain
c.567G>A (p.Trp189*) Nonsense <0.1% Loss of function; premature stop
c.890A>G (p.Gln297Arg) Missense 0.2% Unknown; predicted benign by ClinVar
c.2101_2102insA (p.Thr701fs) Frameshift <0.1% Loss of function; disrupted C-terminal aPKC binding
Mutation functional classification

Loss of Function (LOF)

Nonsense and frameshift mutations that truncate the protein, removing PDZ domains or the aPKC-binding region, leading to polarity defects.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported in PARD3.

Dominant Negative (DN)

Missense mutations in the PDZ domains may act as dominant negatives by sequestering binding partners, but evidence is limited.

Pathways

• hsa:04530 – Tight junction
• hsa:04390 – Hippo signaling pathway
• hsa:04810 – Regulation of actin cytoskeleton
• hsa:04520 – Adherens junction

Protein Summary

PARD3 is a 1356-amino-acid scaffold protein containing three PDZ domains and a C-terminal aPKC-binding region. It localizes to tight junctions and the apical membrane, where it recruits PAR6 and aPKC to establish polarity. PARD3 also interacts with PTEN, CRB3, and LLGL1 to regulate cell proliferation and migration. Isoforms generated by alternative splicing show tissue-specific expression.

Related Products

Product name Cat.No. Species Gene ID
PARD3 Knockout HEK293 Cell Line EDJ-KQ1341 Human 56288 Details Get a Quote
PARD3B Knockout HEK293 Cell Line EDJ-KQ14680 Human 117583 Details Get a Quote
PARD3 Knockout A-549 Cell Line EDJ-KQ20804 Human 56288 Details Get a Quote
PARD3 Knockout HCT 116 Cell Line EDJ-KQ20805 Human 56288 Details Get a Quote
PARD3 Knockout HeLa Cell Line EDJ-KQ20806 Human 56288 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
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