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Aliases for GJC1 Gene

Aliases for GJC1 Gene

  • Gap Junction Protein Gamma 1 2 3 5
  • Gap Junction Protein, Gamma 1, 45kDa 2 3
  • Gap Junction Alpha-7 Protein 3 4
  • Connexin-45 3 4
  • GJA7 3 4
  • Gap Junction Protein, Alpha 7, 45kDa 2
  • Gap Junction Gamma-1 Protein 3
  • CTC-296K1.4 3
  • Connexin 45 2
  • CX45 3
  • Cx45 4

External Ids for GJC1 Gene

Previous HGNC Symbols for GJC1 Gene

  • GJA7

Previous GeneCards Identifiers for GJC1 Gene

  • GC17M038013
  • GC17M040694
  • GC17M038427
  • GC17M038892
  • GC17M038891
  • GC17M035770
  • GC17M040237
  • GC17M042875
  • GC17M038640

Summaries for GJC1 Gene

Entrez Gene Summary for GJC1 Gene

  • This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for GJC1 Gene

GJC1 (Gap Junction Protein Gamma 1) is a Protein Coding gene. Diseases associated with GJC1 include Sinoatrial Node Disease and Oculodentodigital Dysplasia. Among its related pathways are Development Slit-Robo signaling and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include ion channel activity and gap junction channel activity. An important paralog of this gene is GJC2.

UniProtKB/Swiss-Prot for GJC1 Gene

  • 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.

Tocris Summary for GJC1 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).

Gene Wiki entry for GJC1 Gene

Additional gene information for GJC1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GJC1 Gene

Genomics for GJC1 Gene

GeneHancer (GH) Regulatory Elements for GJC1 Gene

Promoters and enhancers for GJC1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J044827 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 650.7 +0.9 912 3.9 SIN3A GLI4 ZNF2 ETS1 GLIS2 KLF7 RUNX3 SP3 REST TSHZ1 GJC1 GC17M044778 FAM187A ENSG00000267344
GH17J044831 Enhancer 0.5 ENCODE 650.7 -1.2 -1212 0.2 CTCF ZFHX2 RNF2 SCRT2 ZNF2 GJC1 EFTUD2 FAM187A HIGD1B
GH17J044898 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 35.3 -69.5 -69457 4.1 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 EFTUD2 FAM187A CCDC103 GJC1 TMUB2 HEXIM1 ASB16-AS1 ENSG00000267344 ENSG00000224505 PIR50226
GH17J044818 Enhancer 1.3 Ensembl ENCODE dbSUPER 28.4 +10.4 10421 3.4 ARNT ZNF493 ZFP64 FEZF1 ZNF2 ZNF121 ZNF213 KLF7 FOS ZNF202 UBTF ASB16-AS1 TMUB2 GJC1 MPP2 GPATCH8 ENSG00000266918 ENSG00000260793 EFTUD2 HIGD1B
GH17J044977 Enhancer 1.3 Ensembl ENCODE dbSUPER 21.8 -149.0 -148983 5.2 PKNOX1 FOXA2 MLX SIN3A YBX1 BRCA1 ETS1 YY1 ZNF207 ATF7 UBTF LINC02210 GJC1 NMT1 EFTUD2 MAP3K14-AS1 LRRC37A4P ASB16-AS1 ENSG00000266918 KIF18B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GJC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GJC1 gene promoter:
  • AP-4
  • AML1a
  • Ik-2
  • HOXA5
  • Evi-1

Genomic Locations for GJC1 Gene

Genomic Locations for GJC1 Gene
36,863 bases
Minus strand
32,369 bases
Minus strand

Genomic View for GJC1 Gene

Genes around GJC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GJC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GJC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GJC1 Gene

Proteins for GJC1 Gene

  • Protein details for GJC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Gap junction gamma-1 protein
    Protein Accession:
    Secondary Accessions:
    • B3KW68
    • Q4VAY0

    Protein attributes for GJC1 Gene

    396 amino acids
    Molecular mass:
    45470 Da
    Quaternary structure:
    • A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity).

    Three dimensional structures from OCA and Proteopedia for GJC1 Gene

neXtProt entry for GJC1 Gene

Post-translational modifications for GJC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GJC1 Gene

Domains & Families for GJC1 Gene

Gene Families for GJC1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for GJC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the connexin family. Gamma-type subfamily.
  • Belongs to the connexin family. Gamma-type subfamily.
genes like me logo Genes that share domains with GJC1: view

Function for GJC1 Gene

Molecular function for GJC1 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for GJC1 Gene

Gene Ontology (GO) - Molecular Function for GJC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005243 gap junction channel activity IEA --
GO:0086020 gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling NAS 21357845
GO:0086077 gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling ISS,IEA --
genes like me logo Genes that share ontologies with GJC1: view
genes like me logo Genes that share phenotypes with GJC1: view

Animal Models for GJC1 Gene

MGI Knock Outs for GJC1:
  • Gjc1 Gjc1<tm2.1Kni>
  • Gjc1 Gjc1<tm1Kni>
  • Gjc1 Gjc1<tm1Kwi>
  • Gjc1 Gjc1<tm1.1Kni>
  • Gjc1 Gjc1<tm1.2(Gjd2)Kwi>
  • Gjc1 Gjc1<tm1.1(KOMP)Vlcg>
  • Gjc1 Gjc1<tm1.1Weil>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GJC1 Gene

Localization for GJC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GJC1 Gene

Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.

Subcellular locations from

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 GJC1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
extracellular 1
cytoskeleton 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Cytosol (1)
  • Nucleoli (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GJC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane TAS --
GO:0005921 gap junction TAS 7966354
GO:0005922 connexin complex ISS 15044680
GO:0014704 intercalated disc TAS 23348765
genes like me logo Genes that share ontologies with GJC1: view

Pathways & Interactions for GJC1 Gene

genes like me logo Genes that share pathways with GJC1: view

Pathways by source for GJC1 Gene

Gene Ontology (GO) - Biological Process for GJC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001570 vasculogenesis IEA --
GO:0006936 muscle contraction TAS 7966354
GO:0007043 cell-cell junction assembly TAS 7966354
GO:0007154 cell communication IEA --
GO:0007267 cell-cell signaling IEA --
genes like me logo Genes that share ontologies with GJC1: view

No data available for SIGNOR curated interactions for GJC1 Gene

Drugs & Compounds for GJC1 Gene

(11) Drugs for GJC1 Gene - From: DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbenoxolone Experimental Pharma Inhibitor 0
Flufenamic Acid Experimental Pharma Channel blocker, Inhibitor, Pore Blocker, Antagonist Calcium-activated chloride channel blocker; NSAID. Also activates TRPC6 1
octanol Investigational Pharma Inhibitor 0
Ca<sup>2+</sup> Pharma Activator, Full agonist, Agonist, Inhibitor, Antagonist, Channel blocker 0
10Panx Pharma Panx-1 mimetic inhibitor, Panx-1 mimetic inhibitory peptide; blocks pannexin-1 gap junctions 0

(2) Additional Compounds for GJC1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for GJC1 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
genes like me logo Genes that share compounds with GJC1: view

Transcripts for GJC1 Gene

Unigene Clusters for GJC1 Gene

Gap junction protein, gamma 1, 45kDa:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GJC1 Gene

No ASD Table

Relevant External Links for GJC1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GJC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GJC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GJC1 Gene

This gene is overexpressed in Colon - Sigmoid (x5.7).

Protein differential expression in normal tissues from HIPED for GJC1 Gene

This gene is overexpressed in Urinary Bladder (41.6) and Colon (27.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GJC1 Gene

Protein tissue co-expression partners for GJC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of GJC1 Gene:


SOURCE GeneReport for Unigene cluster for GJC1 Gene:


Evidence on tissue expression from TISSUES for GJC1 Gene

  • Heart(2.8)
  • Muscle(2.8)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with GJC1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GJC1 Gene

Orthologs for GJC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GJC1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GJC1 34 33
  • 99.92 (n)
(Monodelphis domestica)
Mammalia GJC1 34
  • 93 (a)
(Canis familiaris)
Mammalia GJC1 34 33
  • 92.59 (n)
(Mus musculus)
Mammalia Gjc1 16 34 33
  • 92.51 (n)
(Bos Taurus)
Mammalia GJC1 34 33
  • 91.75 (n)
(Rattus norvegicus)
Mammalia Gjc1 33
  • 91.75 (n)
(Ornithorhynchus anatinus)
Mammalia GJC1 34
  • 76 (a)
(Gallus gallus)
Aves GJC1 34 33
  • 76.9 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 83 (a)
-- 34
  • 83 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gjc1 33
  • 69.3 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC52735 33
(Danio rerio)
Actinopterygii LOC564307 33
  • 64.47 (n)
GJC1 34
  • 59 (a)
cx43.4 33
Species where no ortholog for GJC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GJC1 Gene

Gene Tree for GJC1 (if available)
Gene Tree for GJC1 (if available)
Evolutionary constrained regions (ECRs) for GJC1: view image

Paralogs for GJC1 Gene

Paralogs for GJC1 Gene

(19) SIMAP similar genes for GJC1 Gene using alignment to 5 proteins:

  • K7EM78_HUMAN
  • K7EQ14_HUMAN
genes like me logo Genes that share paralogs with GJC1: view

Variants for GJC1 Gene

Sequence variations from dbSNP and Humsavar for GJC1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000005874 -- 44,800,041(-) G/A 3_prime_UTR_variant, intron_variant
rs1000037102 -- 44,799,699(-) G/T 3_prime_UTR_variant, intron_variant
rs1000167992 -- 44,794,564(-) C/T downstream_transcript_variant
rs1000176499 -- 44,810,933(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000228381 -- 44,808,699(-) T/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for GJC1 Gene

Variant ID Type Subtype PubMed ID
esv2674378 CNV deletion 23128226
esv3554461 CNV deletion 23714750
esv3640655 CNV loss 21293372
nsv1118596 CNV duplication 24896259
nsv1146669 OTHER inversion 26484159
nsv523493 CNV loss 19592680
nsv828021 CNV gain 20364138
nsv833456 CNV gain+loss 17160897

Variation tolerance for GJC1 Gene

Residual Variation Intolerance Score: 32.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.87; 18.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GJC1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GJC1 Gene

Disorders for GJC1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for GJC1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
sinoatrial node disease
  • sa node
oculodentodigital dysplasia
  • oddd
first-degree atrioventricular block
  • first degree atrioventricular block
- elite association - COSMIC cancer census association via MalaCards
Search GJC1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GJC1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GJC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GJC1 Gene

Publications for GJC1 Gene

  1. Molecular cloning of two human cardiac gap junction proteins, connexin40 and connexin45. (PMID: 7966354) Kanter HL … Beyer EC (Journal of molecular and cellular cardiology 1994) 2 3 4 22 58
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  3. Gating properties of heterotypic gap junction channels formed of connexins 40, 43, and 45. (PMID: 17189315) Rackauskas M … Bukauskas FF (Biophysical journal 2007) 3 22 58
  4. Interplay between cystic fibrosis transmembrane regulator and gap junction channels made of connexins 45, 40, 32 and 50 expressed in oocytes. (PMID: 17546509) Kotsias BA … Peracchia C (The Journal of membrane biology 2006) 3 22 58
  5. Association with ZO-1 correlates with plasma membrane partitioning in truncated connexin45 mutants. (PMID: 16463142) Laing JG … Steinberg TH (The Journal of membrane biology 2005) 3 22 58

Products for GJC1 Gene

Sources for GJC1 Gene

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