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Aliases for GJB7 Gene

Aliases for GJB7 Gene

  • Gap Junction Protein Beta 7 2 3 5
  • Gap Junction Protein, Beta 7, 25kDa 2 3
  • Connexin-25 3 4
  • CX25 3 4
  • Gap Junction Protein, Beta 7 2
  • Gap Junction Beta-7 Protein 3
  • Connexin 25 2
  • Connexin25 3
  • BA136M9.1 3
  • Cx25 4

External Ids for GJB7 Gene

Previous GeneCards Identifiers for GJB7 Gene

  • GC06M087989
  • GC06M087988
  • GC06M088049
  • GC06M087992
  • GC06M085209

Summaries for GJB7 Gene

Entrez Gene Summary for GJB7 Gene

  • Connexins, such as GJB7, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]

GeneCards Summary for GJB7 Gene

GJB7 (Gap Junction Protein Beta 7) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport and Gap junction trafficking. An important paralog of this gene is GJB3.

UniProtKB/Swiss-Prot for GJB7 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 GJB7 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 GJB7 Gene

Additional gene information for GJB7 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GJB7 Gene

Genomics for GJB7 Gene

GeneHancer (GH) Regulatory Elements for GJB7 Gene

Promoters and enhancers for GJB7 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
GH06J087328 Enhancer 0.6 ENCODE 650.7 +0.2 216 0.3 KLF1 L3MBTL2 KLF17 SIN3A ZBTB8A YY1 ZNF324 ZNF610 EGR1 ZNF629 GJB7 LINC01590 C6orf163 SMIM8
GH06J087321 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 0.4 +6.6 6598 1.4 HDGF ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B ZNF213 SMIM8 LINC01590 C6orf163 ZNF292 SLC35A1 GJB7
GH06J087504 Enhancer 0.2 FANTOM5 2.7 -175.1 -175073 0.2 ORC3 RARS2 GJB7 RNU6-444P SLC35A1 GC06P087563 ENSG00000213204
GH06J087333 Enhancer 0.6 Ensembl 0.7 -4.6 -4623 0.6 MEIS2 E2F5 CEBPB CEBPG GABPA OSR2 ATF4 NFIC ZNF766 GABPB1 LOC100421022 LINC01590 SLC35A1 GJB7 SMIM8
GH06J087017 Enhancer 0.2 FANTOM5 1.8 +311.4 311371 0.4 HTR1E GJB7 GC06P087015 ENSG00000217776
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GJB7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GJB7 gene promoter:
  • FAC1
  • Pbx1a
  • FOXJ2 (long isoform)
  • FOXJ2
  • MyoD
  • MIF-1
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c

Genomic Locations for GJB7 Gene

Genomic Locations for GJB7 Gene
chr6:87,282,978-87,329,278
(GRCh38/hg38)
Size:
46,301 bases
Orientation:
Minus strand
chr6:87,992,696-88,038,996
(GRCh37/hg19)
Size:
46,301 bases
Orientation:
Minus strand

Genomic View for GJB7 Gene

Genes around GJB7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GJB7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GJB7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GJB7 Gene

Proteins for GJB7 Gene

  • Protein details for GJB7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PEY0-CXB7_HUMAN
    Recommended name:
    Gap junction beta-7 protein
    Protein Accession:
    Q6PEY0
    Secondary Accessions:
    • B3KXL0
    • Q96KP0

    Protein attributes for GJB7 Gene

    Size:
    223 amino acids
    Molecular mass:
    25860 Da
    Quaternary structure:
    • A connexon is composed of a hexamer of connexins.

neXtProt entry for GJB7 Gene

Post-translational modifications for GJB7 Gene

No Post-translational modifications

Other Protein References for GJB7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GJB7 Gene

Domains & Families for GJB7 Gene

Gene Families for GJB7 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for GJB7 Gene

Suggested Antigen Peptide Sequences for GJB7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6PEY0

UniProtKB/Swiss-Prot:

CXB7_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 GJB7: view

Function for GJB7 Gene

Molecular function for GJB7 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 GJB7 Gene

Gene Ontology (GO) - Molecular Function for GJB7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005243 gap junction channel activity IDA 12064583
genes like me logo Genes that share ontologies with GJB7: view
genes like me logo Genes that share phenotypes with GJB7: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GJB7

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GJB7 Gene

Localization for GJB7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GJB7 Gene

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

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 GJB7 gene
Compartment Confidence
plasma membrane 4

Gene Ontology (GO) - Cellular Components for GJB7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005921 gap junction 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 GJB7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GJB7 Gene

Pathways & Interactions for GJB7 Gene

genes like me logo Genes that share pathways with GJB7: view

Pathways by source for GJB7 Gene

Interacting Proteins for GJB7 Gene

Gene Ontology (GO) - Biological Process for GJB7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007154 cell communication IEA --
GO:0055085 transmembrane transport IDA 12064583
genes like me logo Genes that share ontologies with GJB7: view

No data available for SIGNOR curated interactions for GJB7 Gene

Drugs & Compounds for GJB7 Gene

(9) Drugs for GJB7 Gene - From: DGIdb, IUPHAR, and Tocris

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

(5) Tocris Compounds for GJB7 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 GJB7: view

Transcripts for GJB7 Gene

mRNA/cDNA for GJB7 Gene

(2) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(14) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GJB7 Gene

Gap junction protein, beta 7, 25kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GJB7

Alternative Splicing Database (ASD) splice patterns (SP) for GJB7 Gene

No ASD Table

Relevant External Links for GJB7 Gene

GeneLoc Exon Structure for
GJB7
ECgene alternative splicing isoforms for
GJB7

Expression for GJB7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GJB7 Gene

mRNA differential expression in normal tissues according to GTEx for GJB7 Gene

This gene is overexpressed in Pituitary (x24.9) and Fallopian Tube (x4.6).

NURSA nuclear receptor signaling pathways regulating expression of GJB7 Gene:

GJB7

SOURCE GeneReport for Unigene cluster for GJB7 Gene:

Hs.146727

mRNA Expression by UniProt/SwissProt for GJB7 Gene:

Q6PEY0-CXB7_HUMAN
Tissue specificity: Weakly expressed in placenta.
genes like me logo Genes that share expression patterns with GJB7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 GJB7 Gene

Orthologs for GJB7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GJB7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GJB7 34 33
  • 99.55 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GJB7 34 33
  • 89.8 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GJB7 33
  • 88.94 (n)
oppossum
(Monodelphis domestica)
Mammalia GJB7 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gjb7 33
  • 70.89 (n)
zebrafish
(Danio rerio)
Actinopterygii cx28.8 34 33
  • 61.11 (n)
OneToOne
Species where no ortholog for GJB7 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)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GJB7 Gene

ENSEMBL:
Gene Tree for GJB7 (if available)
TreeFam:
Gene Tree for GJB7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GJB7: view image

Paralogs for GJB7 Gene

Paralogs for GJB7 Gene

(17) SIMAP similar genes for GJB7 Gene using alignment to 2 proteins:

  • CXB7_HUMAN
  • J3KP93_HUMAN
genes like me logo Genes that share paralogs with GJB7: view

Variants for GJB7 Gene

Sequence variations from dbSNP and Humsavar for GJB7 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000029888 -- 87,290,747(-) T/C intron_variant
rs1000081899 -- 87,291,000(-) G/A intron_variant
rs1000084155 -- 87,301,090(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000096296 -- 87,304,893(-) T/G genic_upstream_transcript_variant, intron_variant
rs1000124290 -- 87,318,249(-) A/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GJB7 Gene

Variant ID Type Subtype PubMed ID
esv2667119 CNV deletion 23128226
esv2759453 CNV loss 17122850
nsv349083 CNV deletion 16902084
nsv507346 OTHER sequence alteration 20534489
nsv5386 CNV deletion 18451855
nsv823771 CNV loss 20364138
nsv981164 CNV duplication 23825009

Variation tolerance for GJB7 Gene

Residual Variation Intolerance Score: 88% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.79; 66.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GJB7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GJB7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GJB7 Gene

Disorders for GJB7 Gene

Additional Disease Information for GJB7

No disorders were found for GJB7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GJB7 Gene

Publications for GJB7 Gene

  1. Cloning and functional expression of a novel human connexin-25 gene. (PMID: 12064583) Bondarev I … Bertram JS (Cell communication & adhesion 2001) 3 4 22 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues. (PMID: 12881038) Söhl G … Willecke K (Cell communication & adhesion 2003) 3 4 58
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58
  5. Structural and functional diversity of connexin genes in the mouse and human genome. (PMID: 12108537) Willecke K … Söhl G (Biological chemistry 2002) 3 4 58

Products for GJB7 Gene

Sources for GJB7 Gene

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