PARD3B

protein-coding

par-3 family cell polarity regulator beta, the group of PDZ domain containing

Gene summary

Predicted to enable phosphatidylinositol binding activity. Predicted to be involved in several processes, including establishment of cell polarity; establishment or maintenance of epithelial cell apical/basal polarity; and microtubule cytoskeleton organization. Located in cell junction. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

ALS2CR19

MANE transcript

NM_001302769.2

Inheritance

—

ClinVar variants

P:1U:220B:10

Top phenotype

PARD3B-related disorder

gnomAD constraint

pLI —, LoF o/e 0.53

Max pathogenic AF

—

Genomic locus

chr2:204,545,475-205,620,162

External References & Databases

Ensembl (ENSG00000116117)

Transcript & Mutation Effects

hg38 • Region Span ~1,074.7 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 PARD3B variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 198

not providedTotal: 13

PARD3B-related disorderTotal: 11

Autism spectrum disorderTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001302769.2. 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			2 clinvar	2 clinvar	1 clinvar	5
missense			209 clinvar	7 clinvar		216
nonsense			1 clinvar			1
start loss						0
frameshift		1 clinvar	1 clinvar			2
splice donor/acceptor (+/-2bp)			7 clinvar			7
Total	0	1	220	9	1	231

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 24 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001302769.2	RefSeq	NP_001289698.1	23	MANE Select
ENST00000406610.7	Ensembl	ENSP00000385848.2	23	MANE Select
NM_057177.7	RefSeq	NP_476518.4	22	Standard
NM_152526.6	RefSeq	NP_689739.4	22	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

microtubule cytoskeleton organization
cell cycle
cell adhesion
protein localization
establishment of cell polarity

Molecular Function

protein binding
phosphatidylinositol binding

Cellular Component

nucleoplasm
cytoplasm
adherens junction
cell-cell adherens junction
bicellular tight junction

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000358768
Coding exons: 22
Length: 1074371
Individuals with no LoFs: 124677
Homozygous LoFs: 0
Heterozygous LoFs: 119
Defined: 124796
p: 0.000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.564	688	648	1.06	0.0000357	7402
Missense (PolyPhen)		254	246.3	1.0313		2819
Synonymous	0.122	240	242	0.990	0.0000136	2285
Loss of Function	3.22	29	54.7	0.530	0.00000303	655

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00058	0.00058	rare
Latino/Admixed American	0.00054	0.00052	rare
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0.00039	0.00039	rare
Finnish	0.00019	0.00019	rare
European (Non-Finnish)	0.00045	0.00044	rare
South Asian	0.00092	0.00085	rare
Other	0.00050	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Putative adapter protein involved in asymmetrical cell division and cell polarization processes. May play a role in the formation of epithelial tight junctions.;

Recessive Scores

pRec: 0.0951

Intolerance Scores

LoFtool: 0.940
RVIS EVS: 0.13
RVIS percentile EVS: 62.75

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.219

Gene Damage Prediction

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