GJC3

gap junction protein gamma 3, the group of Gap junction proteins

Basic information

Region (hg38): 7:99923265-99929620

Previous symbols: [ "GJE1" ]

Links

ENSG00000176402 ∙ NCBI:349149 ∙ OMIM:611925 ∙ HGNC:17495 ∙ Uniprot:Q8NFK1 ∙ 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 GJC3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GJC3 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				1	1	2
missense			8	6	2	16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	7	3

Variants in GJC3

This is a list of pathogenic ClinVar variants found in the GJC3 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-99923578-T-A		Variant of unknown significance	Uncertain significance (Feb 01, 2010)
7-99923585-G-A		GJC3-related disorder	Benign (Jul 30, 2019)
7-99928983-A-G		not specified	Uncertain significance (Dec 20, 2021)
7-99929024-G-T		GJC3-related disorder	Likely benign (Nov 21, 2019)
7-99929052-A-T		GJC3-related disorder	Likely benign (Mar 16, 2021)
7-99929109-C-T		not specified	Uncertain significance (Dec 28, 2022)
7-99929131-G-A			Benign (Dec 31, 2019)
7-99929194-C-T		not specified	Uncertain significance (Jan 29, 2024)
7-99929214-G-A		not specified	Uncertain significance (Dec 03, 2021)
7-99929228-G-A			Benign (Jan 19, 2018)
7-99929329-G-A		not specified	Uncertain significance (Dec 27, 2023)
7-99929356-C-T		not specified	Uncertain significance (Jul 27, 2022)
7-99929411-G-C		GJC3-related disorder	Likely benign (Sep 17, 2019)
7-99929414-G-T		not specified	Likely benign (Apr 19, 2023)
7-99929452-G-C		not specified	Uncertain significance (Sep 01, 2021)
7-99929548-G-A		not specified	Uncertain significance (Aug 02, 2023)
7-99929565-G-T		GJC3-related disorder	Likely benign (Jun 23, 2023)
7-99929574-C-T		not specified	Likely benign (Jun 09, 2022)
7-99929608-A-C		GJC3-related disorder	Likely benign (Aug 13, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GJC3	protein_coding	protein_coding	ENST00000312891	2	6352

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000529	0.711	125615	1	132	125748	0.000529

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.102	153	149	1.02	0.00000743	1781
Missense in Polyphen		46	42.006	1.0951		533
Synonymous	-0.539	68	62.6	1.09	0.00000300	600
Loss of Function	0.861	6	8.75	0.686	4.65e-7	102

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000988	0.000987
Ashkenazi Jewish	0.00	0.00
East Asian	0.000218	0.000217
Finnish	0.00313	0.00310
European (Non-Finnish)	0.000186	0.000185
Middle Eastern	0.000218	0.000217
South Asian	0.000196	0.000163
Other	0.000489	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. {ECO:0000250}.

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.339
• rvis_EVS: 0.19
• rvis_percentile_EVS: 67.03

Haploinsufficiency Scores

• pHI: 0.151
• hipred: N
• hipred_score: 0.123
• ghis: 0.469

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.274

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gjc3
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hearing/vestibular/ear phenotype

Gene ontology

• Biological process: sensory perception of sound;myelination;AV node cell to bundle of His cell communication by electrical coupling
• Cellular component: connexin complex;integral component of membrane;myelin sheath
• Molecular function: protein homodimerization activity;gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling