Aliases for GJE1 Gene

Aliases for GJE1 Gene

  • Gap Junction Protein Epsilon 1 2 3 5
  • Putative Gap Junction Epsilon-1 Protein 3 4
  • Gap Junction Protein, Epsilon 1, 23kDa 2 3
  • Connexin-23 3 4
  • CX23 3
  • Cx23 4

External Ids for GJE1 Gene

Previous GeneCards Identifiers for GJE1 Gene

  • GC00U906254
  • GC07P099184
  • GC07M099132
  • GC07M099165
  • GC07Mh98516
  • GC07M099359
  • GC06U901084
  • GC06P142496
  • GC06P142454

Summaries for GJE1 Gene

GeneCards Summary for GJE1 Gene

GJE1 (Gap Junction Protein Epsilon 1) is a Protein Coding gene. Among its related pathways are G-Beta Gamma Signaling. An important paralog of this gene is GJA10.

UniProtKB/Swiss-Prot Summary for GJE1 Gene

  • Mediates calcium-independent ATP release, suggesting activity as a hemichannel. Does not form functional gap junctions.

Tocris Summary for GJE1 Gene

  • Gap channels (gap junctions) are specialized cell-cell contacts that provide direct intracellular communication. They allow passive diffusion of molecules up to 1 kDa, including nutrients, metabolites (glucose), ions (K+, Ca2+) and second messengers (IP3, cAMP).

Additional gene information for GJE1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GJE1 Gene

Genomics for GJE1 Gene

GeneHancer (GH) Regulatory Elements for GJE1 Gene

Promoters and enhancers for GJE1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J142112 Enhancer 0.7 ENCODE 0.3 -20.5 -20451 0.2 CTCF DACH1 RAD21 TEAD4 CEBPG PKNOX1 CEBPA ARID2 REST PHF21A piR-30188-156 GJE1 NMBR
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GJE1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for GJE1 Gene

Genomic Locations for GJE1 Gene
chr6:142,133,090-142,135,151
(GRCh38/hg38)
Size:
2,062 bases
Orientation:
Plus strand
chr6:142,454,227-142,456,288
(GRCh37/hg19)
Size:
2,062 bases
Orientation:
Plus strand

Genomic View for GJE1 Gene

Genes around GJE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GJE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GJE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GJE1 Gene

Proteins for GJE1 Gene

  • Protein details for GJE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NN92-CXE1_HUMAN
    Recommended name:
    Putative gap junction epsilon-1 protein
    Protein Accession:
    A6NN92

    Protein attributes for GJE1 Gene

    Size:
    205 amino acids
    Molecular mass:
    23755 Da
    Quaternary structure:
    • A connexon is composed of a hexamer of connexins.

neXtProt entry for GJE1 Gene

Post-translational modifications for GJE1 Gene

No Post-translational modifications

Other Protein References for GJE1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GJE1 Gene

Domains & Families for GJE1 Gene

Gene Families for GJE1 Gene

Protein Domains for GJE1 Gene

Suggested Antigen Peptide Sequences for GJE1 Gene

GenScript: Design optimal peptide antigens:
  • Connexin-23 (CXE1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A6NN92

UniProtKB/Swiss-Prot:

CXE1_HUMAN :
  • Belongs to the connexin family. Beta-type (group I) subfamily.
Family:
  • Belongs to the connexin family. Beta-type (group I) subfamily.
genes like me logo Genes that share domains with GJE1: view

Function for GJE1 Gene

Molecular function for GJE1 Gene

UniProtKB/Swiss-Prot Function:
Mediates calcium-independent ATP release, suggesting activity as a hemichannel. Does not form functional gap junctions.

Phenotypes From GWAS Catalog for GJE1 Gene

genes like me logo Genes that share phenotypes with GJE1: view

miRNA for GJE1 Gene

miRTarBase miRNAs that target GJE1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GJE1 Gene

Localization for GJE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GJE1 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GJE1 gene
Compartment Confidence
plasma membrane 2

Gene Ontology (GO) - Cellular Components for GJE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005922 connexin complex IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GJE1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GJE1 Gene

Pathways & Interactions for GJE1 Gene

PathCards logo

SuperPathways for GJE1 Gene

SuperPathway Contained pathways
1 G-Beta Gamma Signaling
.30
genes like me logo Genes that share pathways with GJE1: view

Pathways by source for GJE1 Gene

1 Qiagen pathway for GJE1 Gene
  • Signaling in Gap Junctions

Interacting Proteins for GJE1 Gene

Gene Ontology (GO) - Biological Process for GJE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis IEA --
GO:0002088 lens development in camera-type eye IEA --
GO:0007154 cell communication IEA --
GO:0035265 organ growth IEA --
genes like me logo Genes that share ontologies with GJE1: view

No data available for SIGNOR curated interactions for GJE1 Gene

Drugs & Compounds for GJE1 Gene

(9) Drugs for GJE1 Gene - From: ApexBio, DGIdb, IUPHAR, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Flufenamic acid Approved Pharma Channel blocker, Inhibitor, Pore Blocker, Antagonist Calcium-activated chloride channel blocker; NSAID. Also activates TRPC6 1
Carbenoxolone Experimental Pharma Inhibitor 0
octanol Investigational Pharma Inhibitor 0
10Panx Pharma Panx-1 mimetic inhibitor, Panx-1 mimetic inhibitory peptide; blocks pannexin-1 gap junctions 0
Gap 27 Pharma Selective gap junction blocker 0

(5) Tocris Compounds for GJE1 Gene

Compound Action Cas Number
10Panx Panx-1 mimetic inhibitory peptide; blocks pannexin-1 gap junctions 955091-53-9
Carbenoxolone disodium Gap junction blocker. Also inhibitor of 11 beta-hydroxysteroid dehydrogenase 7421-40-1
Gap 26 Gap junction blocker; inhibits smooth muscle contraction and IP3-mediated ATP release 197250-15-0
Gap 27 Selective gap junction blocker 198284-64-9
Scrambled 10Panx Scrambled version of 10Panx (Cat. No. 3348), Panx-1 mimetic inhibitory peptide 1315378-72-3

(3) ApexBio Compounds for GJE1 Gene

Compound Action Cas Number
10Panx Panx-1 mimetic inhibitor 955091-53-9
Gap 27 Selective gap junction blocker 198284-64-9
Scrambled 10Panx Panx-1 mimetic inhibitory peptide, blocks pannexin-1 gap junctions 1315378-72-3
genes like me logo Genes that share compounds with GJE1: view

Drug Products

Transcripts for GJE1 Gene

mRNA/cDNA for GJE1 Gene

(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GJE1 Gene

No ASD Table

Relevant External Links for GJE1 Gene

GeneLoc Exon Structure for
GJE1
ECgene alternative splicing isoforms for
GJE1

Expression for GJE1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GJE1 Gene

NURSA nuclear receptor signaling pathways regulating expression of GJE1 Gene:

GJE1

mRNA Expression by UniProt/SwissProt for GJE1 Gene:

A6NN92-CXE1_HUMAN
Tissue specificity: Not detected in lens or retina.
genes like me logo Genes that share expression patterns with GJE1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for GJE1 Gene

Orthologs for GJE1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GJE1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia GJE1 33
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gje1 33
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GJE1 33
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GJE1 33
  • 73 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii cx23 33
  • 72 (a)
OneToMany
CR628323.3 33
  • 66 (a)
OneToMany
Species where no ortholog for GJE1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GJE1 Gene

ENSEMBL:
Gene Tree for GJE1 (if available)
TreeFam:
Gene Tree for GJE1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GJE1: view image

Paralogs for GJE1 Gene

genes like me logo Genes that share paralogs with GJE1: view

Variants for GJE1 Gene

Sequence variations from dbSNP and Humsavar for GJE1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000306806 -- 142,134,610(+) T/A coding_sequence_variant, missense_variant
rs1000467756 -- 142,134,132(+) T/G intron_variant
rs1000655923 -- 142,135,012(+) A/G downstream_transcript_variant
rs1002415968 -- 142,133,560(+) C/A intron_variant
rs1002450510 -- 142,133,900(+) G/A coding_sequence_variant, synonymous_variant

Variation tolerance for GJE1 Gene

Gene Damage Index Score: 6.84; 79.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GJE1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GJE1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for GJE1 Gene

Disorders for GJE1 Gene

Additional Disease Information for GJE1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for GJE1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GJE1 Gene

Publications for GJE1 Gene

  1. Mouse lens connexin23 (Gje1) does not form functional gap junction channels but causes enhanced ATP release from HeLa cells. (PMID: 18849090) Sonntag S … Willecke K (European journal of cell biology 2009) 2 3 4 56
  2. Identification of novel variants in the Cx29 gene of nonsyndromic hearing loss patients using buccal cells and restriction fragment length polymorphism method. (PMID: 19657183) Wang WH … Li SY (Audiology & neuro-otology 2010) 3 43 56
  3. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 56

Products for GJE1 Gene

Sources for GJE1 Gene