PARD6G

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

Basic information

Region (hg38): 18:80157231-80247514

Links

ENSG00000178184 ∙ NCBI:84552 ∙ OMIM:608976 ∙ HGNC:16076 ∙ Uniprot:Q9BYG4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PARD6G gene.

• Inborn genetic diseases (15 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PARD6G gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			15			15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	0	0

Variants in PARD6G

This is a list of pathogenic ClinVar variants found in the PARD6G region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
18-80159782-C-A		not specified	Uncertain significance (May 05, 2023)
18-80159824-G-C		not specified	Uncertain significance (Sep 28, 2022)
18-80159830-G-C		not specified	Uncertain significance (Feb 06, 2024)
18-80159875-C-G		not specified	Uncertain significance (Jan 29, 2024)
18-80159893-G-A		not specified	Uncertain significance (Mar 07, 2023)
18-80159922-T-C		not specified	Uncertain significance (Jul 12, 2023)
18-80159976-G-C		not specified	Uncertain significance (Jan 17, 2023)
18-80159995-T-C		not specified	Uncertain significance (Apr 12, 2023)
18-80160040-A-C		not specified	Uncertain significance (Aug 22, 2023)
18-80160078-C-A		not specified	Uncertain significance (Jan 24, 2024)
18-80160082-C-T		not specified	Uncertain significance (Nov 21, 2023)
18-80160088-C-G		not specified	Uncertain significance (Apr 27, 2022)
18-80160089-G-C		not specified	Uncertain significance (Apr 08, 2022)
18-80160136-C-G		not specified	Uncertain significance (Jun 02, 2023)
18-80160361-G-A		not specified	Uncertain significance (Nov 15, 2021)
18-80160528-C-A		not specified	Uncertain significance (Feb 10, 2022)
18-80160540-A-C		not specified	Uncertain significance (Dec 21, 2022)
18-80160580-C-A		not specified	Uncertain significance (Dec 15, 2023)
18-80202882-C-G		not specified	Uncertain significance (Feb 07, 2023)
18-80247320-G-A		not specified	Uncertain significance (Dec 13, 2021)
18-80247332-T-C		not specified	Uncertain significance (Sep 26, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PARD6G	protein_coding	protein_coding	ENST00000353265	3	90315

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0950	0.872	125643	0	4	125647	0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.84	161	242	0.666	0.0000179	2358
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000153	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000883	0.00000880
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

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}.
• Pathway: 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);Human papillomavirus infection - Homo sapiens (human);Tight junction interactions;Cell-cell junction organization;Cell junction organization;Cell-Cell communication (Consensus)

Recessive Scores

• pRec: 0.111

Intolerance Scores

• loftool: 0.235
• rvis_EVS: -0.52
• rvis_percentile_EVS: 21.2

Haploinsufficiency Scores

• pHI: 0.326
• hipred: Y
• hipred_score: 0.831
• ghis: 0.695

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.688

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Pard6g

Zebrafish Information Network

• Gene name: pard6gb
• Affected structure: retinal ganglion cell
• Phenotype tag: abnormal
• Phenotype quality: decreased process quality

Gene ontology

• Biological process: centrosome cycle;establishment or maintenance of cell polarity;cell division;regulation of cellular localization;bicellular tight junction assembly
• Cellular component: nucleus;cytosol;plasma membrane;bicellular tight junction;cell cortex;apical plasma membrane;protein-containing complex
• Molecular function: protein kinase C binding;protein binding;Rho GTPase binding