PARD6G

protein-coding

par-6 family cell polarity regulator gamma, the group of PDZ domain containing

Gene summary

Predicted to be involved in centrosome cycle; establishment or maintenance of cell polarity; and regulation of cellular localization. Predicted to be located in cytosol; plasma membrane; and tight junction. Predicted to be active in apical plasma membrane; cell cortex; and nucleus. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_032510.4

Inheritance

—

ClinVar variants

U:59

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.34

Max pathogenic AF

—

Genomic locus

chr18:80,157,232-80,247,514

External References & Databases

Ensembl (ENSG00000178184)

Transcript & Mutation Effects

hg38 • Region Span ~90.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to PARD6G variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 58

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032510.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar			1
missense			58 clinvar			58
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	59	0	0	59

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 7 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032510.4	RefSeq	NP_115899.1	3	MANE Select
ENST00000353265.8	Ensembl	ENSP00000343144.3	3	MANE Select
ENST00000463384.1	Ensembl	ENSP00000466076.1	2	Standard
ENST00000470488.2	Ensembl	ENSP00000468735.1	3	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
pard6gb	Danio rerio	Structure: retinal ganglion cell Quality: decreased process quality abnormal

Gene / Model

Organism

Observed Phenotype

pard6gb

Danio rerio

Structure: retinal ganglion cell

Quality: decreased process quality

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Endocytosis - Homo sapiens (human)
Tight junction - Homo sapiens (human)
Axon guidance - Homo sapiens (human)
Hippo signaling pathway - Homo sapiens (human)
Rap1 signaling pathway - Homo sapiens (human)

Biological Process

centrosome cycle
establishment or maintenance of cell polarity
cell division
regulation of cellular localization
bicellular tight junction assembly

Molecular Function

protein kinase C binding
protein binding
Rho GTPase binding

Cellular Component

nucleus
cytosol
plasma membrane
bicellular tight junction
cell cortex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000353265
Coding exons: 3
Length: 90315
Individuals with no LoFs: 125643
Homozygous LoFs: 0
Heterozygous LoFs: 4
Defined: 125647
p: 0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.84	161	242	0.666	0.0000179	2358
Missense (PolyPhen)		38	85.506	0.44441		787
Synonymous	1.19	100	116	0.860	0.00000958	820
Loss of Function	1.82	3	8.85	0.339	5.64e-7	90

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.0000088	0.0000088	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Adapter protein involved in asymmetrical cell division and cell polarization processes. May play a role in the formation of epithelial tight junctions. The PARD6-PARD3 complex links GTP- bound Rho small GTPases to atypical protein kinase C proteins (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.111

Intolerance Scores

LoFtool: 0.235
RVIS EVS: -0.52
RVIS percentile EVS: 21.2

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.688

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium