PARD6B par-6 family cell polarity regulator beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: PARD6Bprovided by HGNC
Official Full Name: par-6 family cell polarity regulator betaprovided by HGNC
Primary source: HGNC:HGNC:16245
See related: Ensembl:ENSG00000124171 MIM:608975; AllianceGenome:HGNC:16245
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PAR6B
Summary: This gene is a member of the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain, an OPR domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cytoplasmic protein is involved in asymmetrical cell division and cell polarization processes as a member of a multi-protein complex. [provided by RefSeq, Jul 2008]
Expression: Broad expression in kidney (RPKM 9.5), lung (RPKM 3.4) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.13

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (50731580..50753741)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (52501886..52524081)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (49348117..49370278)

Chromosome 20 - NC_000020.11 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

reduced expression of PKCzeta/Pard3/Pard6 contributes to non-small-cell lung cancer epithelial-mesenchymal transition, invasion, and chemoresistance.
Title: Downregulation of PKCζ/Pard3/Pard6b is responsible for lung adenocarcinoma cell EMT and invasion.
found that the polarity determinants Cdc42, Par6B, PKCzeta/iota and the structural proteins ezrin and phospho-ezrin were lost from the apical membrane and accumulated either in the cytoplasm or on the basal side of enterocytes in patients
Title: The localisation of the apical Par/Cdc42 polarity module is specifically affected in microvillus inclusion disease.
PAK4 phosphorylates Par6B at Ser143 blocking its interaction with Cdc42.
Title: Functional cross-talk between Cdc42 and two downstream targets, Par6B and PAK4.
Data conclude that Par6B and aPKC control mitotic spindle orientation in polarized epithelia and, furthermore, that aPKC coordinately regulates multiple processes to promote morphogenesis.
Title: Par6B and atypical PKC regulate mitotic spindle orientation during epithelial morphogenesis.
This study demonstrates that controlled regulation of PAK4 is required for apical junction formation in lung epithelial cells and highlights potential cross-talk between two Cdc42 targets, PAK4 and Par6B.
Title: Cdc42 regulates apical junction formation in human bronchial epithelial cells through PAK4 and Par6B.
Interaction between PAR-3 and the aPKC-PAR-6 complex is indispensable for apical domain development of epithelial cells.
Title: Interaction between PAR-3 and the aPKC-PAR-6 complex is indispensable for apical domain development of epithelial cells.
The ability of SRC family coactivators to regulate the expression of one of these genes, PARD6B/Par6, was confirmed by using cells individually depleted of SRC-1.
Title: Identification of target genes in breast cancer cells directly regulated by the SRC-3/AIB1 coactivator.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study on bipolar disorder in the Bulgarian population. 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

GDB:434012 (e-PCR)
- UniSTS:157204

L17705 (e-PCR)
- UniSTS:66091

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

D11S3114 (e-PCR)
- UniSTS:152207

L17877 (e-PCR)
- UniSTS:61334

PARD6B_3691 (e-PCR)
- UniSTS:463270

RH65940 (e-PCR)
- UniSTS:80811

SHGC-37653 (e-PCR)
- UniSTS:44733

G42347 (e-PCR)
- UniSTS:94206

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in axonogenesis	TAS Traceable Author Statement more info	PubMed
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in cell-cell junction assembly	TAS Traceable Author Statement more info	PubMed
involved_in centrosome cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment or maintenance of cell polarity	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment or maintenance of cell polarity	TAS Traceable Author Statement more info	PubMed
involved_in establishment or maintenance of epithelial cell apical/basal polarity	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein-containing complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell migration	TAS Traceable Author Statement more info	PubMed
involved_in regulation of cellular localization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of PAR polarity complex	ISS Inferred from Sequence or Structural Similarity more info
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in bicellular tight junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in cell cortex	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in tight junction	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: partitioning defective 6 homolog beta

Names: PAR-6 beta; par-6 partitioning defective 6 homolog 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_032521.3 → NP_115910.1 partitioning defective 6 homolog beta

See identical proteins and their annotated locations for NP_115910.1

Status: REVIEWED

Source sequence(s)

AB044555, AL031680, BC060847, CA435324

Consensus CDS

CCDS33485.1

UniProtKB/Swiss-Prot

A2A2A7, Q9BYG5, Q9Y510

Related

ENSP00000360672.2, ENST00000371610.7

Conserved Domains (2) summary

cd06403
Location:17 → 96

PB1_Par6; The PB1 domain is an essential part of Par6 protein which in complex with Par3 and aPKC proteins is crucial for establishment of apical-basal polarity of animal cells. The PB1 domain is a modular domain mediating specific protein-protein interactions ...

cd00992
Location:156 → 247

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) ...