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

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. Among its related pathways are Development Slit-Robo signaling and Gap junction trafficking. 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

Regulatory Elements for GJC1 Gene

Enhancers for GJC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H044818 1.5 Ensembl ENCODE dbSUPER 28.4 +10.4 10422 3.4 ARNT ZNF493 ZFP64 FEZF1 ZNF2 ZNF121 KLF7 FOS ZNF202 SP3 UBTF ASB16-AS1 TMUB2 GPATCH8 GJC1 MPP2 ENSG00000260793 EFTUD2 HIGD1B ENSG00000224505
GH17H044898 1.2 ENCODE 35.3 -69.5 -69495 4.1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC PPARGC1A EFTUD2 GJC1 FAM187A TMUB2 HEXIM1 ASB16-AS1 ENSG00000267344 UBTF ENSG00000224505 PIR50226
GH17H044977 1.5 Ensembl ENCODE dbSUPER 21.8 -149.0 -148984 5.2 PKNOX1 FOXA2 MLX SIN3A YBX1 BRCA1 YY1 ZNF207 ATF7 FOS UBTF LINC02210 GJC1 NMT1 ASB16-AS1 ENSG00000266918 KIF18B FAM171A2 GFAP MAP3K14-AS1
GH17H044806 0.6 dbSUPER 36.1 +23.3 23295 2 ZNF664 ZNF121 SCRT1 POLR2A SCRT2 EBF1 RELA GJC1 FAM187A ENSG00000267505 PIR52410 GC17M044778
GH17H044778 1.5 Ensembl ENCODE dbSUPER 11.6 +51.4 51436 1.2 HDGF PKNOX1 ATF1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B GLIS2 GJC1 GFAP ENSG00000267505 FAM187A GC17P044768
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GJC1 on UCSC Golden Path with GeneCards custom track

Promoters for GJC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000094820 1216 2401 SIN3A GLI4 ZNF2 ETS1 GLIS2 KLF7 RUNX3 SP3 REST TSHZ1

Genomic Locations for GJC1 Gene

Genomic Locations for GJC1 Gene
36,863 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: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 IEA,ISS --
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:

Animal Model Products

miRNA for GJC1 Gene

miRTarBase miRNAs that target GJC1

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:0006810 transport NAS 7966354
GO:0006936 muscle contraction TAS 7966354
GO:0007043 cell-cell junction assembly TAS 7966354
GO:0007154 cell communication 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, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbenoxolone Experimental Pharma Inhibitor 0
Flufenamic Acid Experimental Pharma Channel blocker 1
octanol Investigational Pharma Inhibitor 0
Ca<sup>2+</sup> Pharma Activator 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, PaxDb, 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(2.7)
  • 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 33 34
  • 99.92 (n)
(Monodelphis domestica)
Mammalia GJC1 34
  • 93 (a)
(Canis familiaris)
Mammalia GJC1 33 34
  • 92.59 (n)
(Mus musculus)
Mammalia Gjc1 33 16 34
  • 92.51 (n)
(Bos Taurus)
Mammalia GJC1 33 34
  • 91.75 (n)
(Rattus norvegicus)
Mammalia Gjc1 33
  • 91.75 (n)
(Ornithorhynchus anatinus)
Mammalia GJC1 34
  • 76 (a)
(Gallus gallus)
Aves GJC1 33 34
  • 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)

Paralogs for GJC1 Gene

Paralogs for GJC1 Gene

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 Sequence Context AA Info Type
rs1000005874 -- 44,800,041(+) TGACT(A/G)TGAAT intron-variant, utr-variant-3-prime
rs1000037102 -- 44,799,699(+) GGATT(G/T)CTTGG intron-variant, utr-variant-3-prime
rs1000167992 -- 44,794,564(+) GCTCC(C/T)CGTCA downstream-variant-500B
rs1000176499 -- 44,810,933(+) CTACC(A/G)TGCCT intron-variant
rs1000228381 -- 44,808,699(+) AGAGG(C/T)TGCAG intron-variant, upstream-variant-2KB

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

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

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)

Relevant External Links for GJC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for GJC1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GJC1 Gene - From: DISEASES

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

Relevant External Links for GJC1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) 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 60
  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 45 60
  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 60
  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 60
  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 60

Products for GJC1 Gene

Sources for GJC1 Gene

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