PARD3B par-3 family cell polarity regulator beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: PARD3Bprovided by HGNC
Official Full Name: par-3 family cell polarity regulator betaprovided by HGNC
Primary source: HGNC:HGNC:14446
See related: Ensembl:ENSG00000116117 MIM:619353; AllianceGenome:HGNC:14446
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PAR3B; PAR3L; ALS2CR19; PAR3beta
Summary: Predicted to enable phosphatidylinositol binding activity. Predicted to be involved in several processes, including establishment of cell polarity; establishment of centrosome localization; and establishment or maintenance of epithelial cell apical/basal polarity. Located in cell junction. Part of protein-containing complex. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in kidney (RPKM 1.4), fat (RPKM 1.3) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q33.3

Exon count:: 33

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (204545475..205620162)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (205027774..206102476)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (205410198..206484886)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

VIRMA facilitates intrahepatic cholangiocarcinoma progression through epigenetic augmentation of TMED2 and PARD3B mRNA stabilization.
Title: VIRMA facilitates intrahepatic cholangiocarcinoma progression through epigenetic augmentation of TMED2 and PARD3B mRNA stabilization.
Par-3 family proteins in cell polarity & adhesion.
Title: Par-3 family proteins in cell polarity & adhesion.
artitioning defective 3-like protein may serve as a promising prognostic marker and a potential therapeutic target for colorectal cancer treatment. Further study is necessary to understand the regulatory mechanism of partitioning defective 3-like protein in colorectal cancer and the feasibility of its application in clinic.
Title: High expression of partitioning defective 3-like protein is associated with malignancy in colorectal cancer.
Par3L interacts with Lkb1 and regulates the activity of AMPK signaling cascade.
Title: Par3L enhances colorectal cancer cell survival by inhibiting Lkb1/AMPK signaling pathway.
The association of single-nucleotide polymorphisms of PARD3B with slower progression of HIV infection to AIDS is reported.
Title: Genome-wide association study implicates PARD3B-based AIDS restriction.
Observational study of gene-disease association. (HuGE Navigator)
Title: An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
Observational study and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Association of genetic polymorphisms with hepatotoxicity in patients with childhood acute lymphoblastic leukemia or lymphoma.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
PAR3beta, expressed intrinsically or extrinsically, localizes to the tight junctions, indicating that the localization does not require the ternary complex formation.
Title: PAR3beta, a novel homologue of the cell polarity protein PAR3, localizes to tight junctions.
binding of 14-3-3 to Par3beta is dependent on phosphorylation
Title: Phosphorylation-dependent binding of 14-3-3 to Par3beta, a human Par3-related cell polarity protein.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association scan identifies a prostaglandin-endoperoxide synthase 2 variant involved in risk of knee osteoarthritis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study implicates PARD3B-based AIDS restriction. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits. EBI GWAS Catalog EBI GWAS CatalogPubMed
Individual common variants exert weak effects on the risk for autism spectrum disorderspi. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2S2058 (e-PCR)
- UniSTS:18689

RH36494 (e-PCR)
- UniSTS:16391

RH119339 (e-PCR)
- UniSTS:133901

G54517 (e-PCR)
- UniSTS:140821

G54518 (e-PCR)
- UniSTS:140836

RH45481 (e-PCR)
- UniSTS:6693

G54514 (e-PCR)
- UniSTS:140837

RH80884 (e-PCR)
- UniSTS:84778

G54515 (e-PCR)
- UniSTS:140845

STS-AA009579 (e-PCR)
- UniSTS:9530

RH46159 (e-PCR)
- UniSTS:74561

WI-11579 (e-PCR)
- UniSTS:78146

G16441 (e-PCR)
- UniSTS:10844

G59650 (e-PCR)
- UniSTS:136805

SHGC-13685 (e-PCR)
- UniSTS:67181

SHGC-81635 (e-PCR)
- UniSTS:103564

D2S2237 (e-PCR), detects polymorphism
- UniSTS:25494

WI-9869 (e-PCR)
- UniSTS:29846

A006J11 (e-PCR)
- UniSTS:26266

RH102589 (e-PCR)
- UniSTS:96923

RH16290 (e-PCR)
- UniSTS:36767

RH45224 (e-PCR)
- UniSTS:12198

WI-17965 (e-PCR)
- UniSTS:15784

AFM224zg5 (e-PCR)
- UniSTS:13739

SHGC-150745 (e-PCR)
- UniSTS:173231

G20667 (e-PCR)
- UniSTS:77236

A006B04 (e-PCR)
- UniSTS:77237

D2S2121 (e-PCR)
- UniSTS:1228

G59606 (e-PCR)
- UniSTS:136910

SHGC-9251 (e-PCR)
- UniSTS:30930

G32361 (e-PCR)
- UniSTS:116952

D2S248 (e-PCR)
- UniSTS:44763

RH36347 (e-PCR)
- UniSTS:50653

SHGC-68581 (e-PCR)
- UniSTS:95478

SHGC-34931 (e-PCR)
- UniSTS:37110

G54512 (e-PCR)
- UniSTS:140792

G54516 (e-PCR)
- UniSTS:140793

G09792 (e-PCR)
- UniSTS:25596

G09542 (e-PCR)
- UniSTS:74494

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phosphatidylinositol binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in establishment of cell polarity	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment of centrosome localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment or maintenance of epithelial cell apical/basal polarity	IBA Inferred from Biological aspect of Ancestor more info
involved_in microtubule cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in adherens junction	IBA Inferred from Biological aspect of Ancestor more info
is_active_in apical junction complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in bicellular tight junction	IEA Inferred from Electronic Annotation more info
is_active_in cell cortex	IBA Inferred from Biological aspect of Ancestor more info
located_in cell junction	IDA Inferred from Direct Assay more info
located_in endomembrane system	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: partitioning defective 3 homolog B

Names: PAR3-L protein; amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19; amyotrophic lateral sclerosis 2 chromosomal region candidate gene 19 protein; par-3 partitioning defective 3 homolog B; partitioning defective 3-like protein; partitioning-defective 3-beta

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001302769.2 → NP_001289698.1 partitioning defective 3 homolog B isoform Par3La

See identical proteins and their annotated locations for NP_001289698.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (Par3La).

Source sequence(s)

AC007385, AC007465, AC008171, AC009316, AC016903, AF428250, BF434006

Consensus CDS

CCDS77511.1

UniProtKB/Swiss-Prot

E9PE87, Q8IUC7, Q8IUC9, Q8TEW8, Q96DK9, Q96N09, Q96NX6, Q96NX7, Q96Q29

Related

ENSP00000385848.2, ENST00000406610.7

Conserved Domains (2) summary

cd00992
Location:387 → 467

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam12053
Location:1 → 143

DUF3534; Domain of unknown function (DUF3534)
NM_057177.7 → NP_476518.4 partitioning defective 3 homolog B isoform Par3Lc

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (Par3Lc) is shorter compared to isoform Par3La.

Source sequence(s)

AC007385, AC007465, AC007736, AC007746, AC008171, AC009316, AC011750, AC016903

Consensus CDS

CCDS42805.1

Related

ENSP00000317261.2, ENST00000351153.5

Conserved Domains (2) summary

cd00992
Location:387 → 467

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam12053
Location:1 → 143

DUF3534; Domain of unknown function (DUF3534)
NM_152526.6 → NP_689739.4 partitioning defective 3 homolog B isoform Par3Lb

See identical proteins and their annotated locations for NP_689739.4

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (Par3Lb) is shorter compared to isoform Par3La.

Source sequence(s)

AC007385, AC007465, AC007736, AC007746, AC008171, AC009316, AC011750, AC016903

Consensus CDS

CCDS42806.1

Related

ENSP00000351618.2, ENST00000358768.6

Conserved Domains (2) summary

cd00992
Location:387 → 467

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam12053
Location:1 → 143

DUF3534; Domain of unknown function (DUF3534)
NM_205863.4 → NP_995585.2 partitioning defective 3 homolog B isoform 4

See identical proteins and their annotated locations for NP_995585.2

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (4) is shorter compared to isoform Par3La.

Source sequence(s)

AC007385, AC007465, AC007736, AC008171, AC009316, AC011750, AC016903

Consensus CDS

CCDS42804.1

Related

ENSP00000340280.3, ENST00000349953.7

Conserved Domains (2) summary

cd00992
Location:387 → 467

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam12053
Location:1 → 143

DUF3534; Domain of unknown function (DUF3534)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

204545475..205620162

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047443208.1 → XP_047299164.1 partitioning defective 3 homolog B isoform X1
XM_017003285.2 → XP_016858774.1 partitioning defective 3 homolog B isoform X4
XM_017003288.2 → XP_016858777.1 partitioning defective 3 homolog B isoform X7
XM_011510552.3 → XP_011508854.1 partitioning defective 3 homolog B isoform X1

Conserved Domains (2) summary

cd00992
Location:395 → 475

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam12053
Location:44 → 151

DUF3534; Domain of unknown function (DUF3534)
XM_017003287.2 → XP_016858776.1 partitioning defective 3 homolog B isoform X6
XM_017003292.2 → XP_016858781.1 partitioning defective 3 homolog B isoform X10

Conserved Domains (2) summary

smart00228
Location:1 → 91

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:188 → 268

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
XM_011510553.3 → XP_011508855.1 partitioning defective 3 homolog B isoform X11

Conserved Domains (2) summary

cd00992
Location:395 → 475

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam12053
Location:44 → 151

DUF3534; Domain of unknown function (DUF3534)
XM_017003294.2 → XP_016858783.1 partitioning defective 3 homolog B isoform X12
XM_017003284.2 → XP_016858773.1 partitioning defective 3 homolog B isoform X3
XM_047443209.1 → XP_047299165.1 partitioning defective 3 homolog B isoform X8
XM_017003286.2 → XP_016858775.1 partitioning defective 3 homolog B isoform X5
XM_017003283.2 → XP_016858772.1 partitioning defective 3 homolog B isoform X2
XM_017003289.1 → XP_016858778.1 partitioning defective 3 homolog B isoform X9
XM_017003293.2 → XP_016858782.1 partitioning defective 3 homolog B isoform X10

Conserved Domains (2) summary

smart00228
Location:1 → 91

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:188 → 268

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...