GeneBe

GJC3

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

Basic information

Region (hg38): 7:99923266-99929620

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.

  • not_specified (27 variants)
  • GJC3-related_disorder (5 variants)
  • not_provided (2 variants)
  • Variant_of_unknown_significance (1 variants)

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. These statistics are base on transcript: NM_000181538.3. 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
clinvar
 2
missense
26
clinvar
6
clinvar
1
clinvar
 33
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 26 7 2
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
GJC3protein_codingprotein_codingENST00000312891 26352
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.0005290.71112561511321257480.000529
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.1021531491.020.000007431781
Missense in Polyphen4642.0061.0951533
Synonymous-0.5396862.61.090.00000300600
Loss of Function0.86168.750.6864.65e-7102

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0009880.000987
Ashkenazi Jewish0.000.00
East Asian0.0002180.000217
Finnish0.003130.00310
European (Non-Finnish)0.0001860.000185
Middle Eastern0.0002180.000217
South Asian0.0001960.000163
Other0.0004890.000489

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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