PARD6G par-6 family cell polarity regulator gamma [Homo sapiens (human)] - Gene

Summary

Official Symbol: PARD6Gprovided by HGNC
Official Full Name: par-6 family cell polarity regulator gammaprovided by HGNC
Primary source: HGNC:HGNC:16076
See related: Ensembl:ENSG00000178184 MIM:608976; AllianceGenome:HGNC:16076
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: PAR-6G; PAR6gamma
Summary: Predicted to be involved in centrosome cycle; establishment or maintenance of epithelial cell apical/basal polarity; and regulation of cellular localization. Predicted to be located in cytosol and plasma membrane. Predicted to be part of PAR polarity complex. Predicted to be active in apical plasma membrane; cell cortex; and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in skin (RPKM 15.6), esophagus (RPKM 5.7) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18q23

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (80157232..80247514, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (80433688..80523977, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (77915115..78005397, complement)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

This paper shows Par6G as a negative regulator of the phosphatidylinositol 3'-kinase/phosphoinositide-dependent protein kinase 1/Akt pathway and epithelial cell proliferation and evidence for frequent inactivation of Par6G gene in epithelial cancers.
Title: Par6G suppresses cell proliferation and is targeted by loss-of-function mutations in multiple cancers.
this study is the first to identify Par6gamma as a component of the mother centriole and to report a role of a mother centriole protein in the regulation of centrosomal protein composition.
Title: Par6γ is at the mother centriole and controls centrosomal protein composition through a Par6α-dependent pathway.
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.

Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vif	vif	HIV-1 Vif modulates the expression of par-6 family cell polarity regulator gamma (PARD6G) in Vif-expression T cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-14684 (e-PCR)
- UniSTS:81447

D8S2279 (e-PCR)
- UniSTS:473907

D18S1063 (e-PCR)
- UniSTS:51269

A004B28 (e-PCR)
- UniSTS:32587

RH26096 (e-PCR)
- UniSTS:85584

SHGC-144757 (e-PCR)
- UniSTS:172397

RH11667 (e-PCR)
- UniSTS:58304

SHGC-149643 (e-PCR)
- UniSTS:177134

SHGC-149251 (e-PCR)
- UniSTS:176888

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 cell division	IEA Inferred from Electronic Annotation more info
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 epithelial cell apical/basal polarity	ISS Inferred from Sequence or Structural Similarity more info
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	IEA Inferred from Electronic Annotation more info
is_active_in cell cortex	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
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 gamma

Names: PAR-6 gamma protein; PAR6D; par-6 partitioning defective 6 homolog gamma

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_032510.4 → NP_115899.1 partitioning defective 6 homolog gamma

See identical proteins and their annotated locations for NP_115899.1

Status: VALIDATED

Source sequence(s)

AA502508, AC139100, BC060797

Consensus CDS

CCDS12022.1

UniProtKB/Swiss-Prot

A8QM57, Q9BYG4

Related

ENSP00000343144.3, ENST00000353265.8

Conserved Domains (2) summary

cd06403
Location:19 → 98

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:157 → 248

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) ...