GJC1

gap junction protein gamma 1, the group of Gap junction proteins

Basic information

Region (hg38): 17:44798448-44830816

Previous symbols: [ "GJA7" ]

Links

ENSG00000182963 ∙ NCBI:10052 ∙ OMIM:608655 ∙ HGNC:4280 ∙ Uniprot:P36383 ∙ 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 GJC1 gene.

• not_specified (30 variants)
• not_provided (2 variants)
• EBV-positive_nodal_T-_and_NK-cell_lymphoma (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GJC1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005497.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1		2	3
missense			29	2		31
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	30	2	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GJC1	protein_coding	protein_coding	ENST00000426548	1	32369

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.07	135	222	0.608	0.0000130	2626
Missense in Polyphen		35	94.384	0.37083		1140
Synonymous	0.313	81	84.7	0.957	0.00000485	764
Loss of Function	3.38	0	13.3	0.00	8.33e-7	150

LoF frequencies by population

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

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.
• Pathway: Calcium Regulation in the Cardiac Cell;Electric Transmission Across Gap Junctions;Transmission across Electrical Synapses ;Neuronal System (Consensus)

Recessive Scores

• pRec: 0.175

Intolerance Scores

• loftool: 0.0404
• rvis_EVS: -0.12
• rvis_percentile_EVS: 44.89

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.373

Gene Damage Prediction

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

Zebrafish Information Network

• Gene name: cx43.4
• Affected structure: pancreatic bud
• Phenotype tag: abnormal
• Phenotype quality: mislocalised radially

Gene ontology

• Biological process: vasculogenesis;muscle contraction;cell-cell junction assembly;chemical synaptic transmission;visual perception;gap junction assembly;ion transmembrane transport;cell development;cardiac muscle tissue development;atrial cardiac muscle cell action potential;SA node cell to atrial cardiac muscle cell communication by electrical coupling;AV node cell to bundle of His cell communication by electrical coupling
• Cellular component: endoplasmic reticulum membrane;plasma membrane;gap junction;connexin complex;intercalated disc;integral component of membrane
• Molecular function: ion channel activity;gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling;gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling