Connexins, such as GJA9, 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] See more...

Aliases for GJA9 Gene

Aliases for GJA9 Gene

  • Gap Junction Protein Alpha 9 2 3 5
  • Gap Junction Protein, Alpha 9, 59kDa 2 3
  • Gap Junction Alpha-9 Protein 3 4
  • Connexin-58 3 4
  • Connexin 59 2 3
  • GJA10 3 4
  • Gap Junction Protein, Alpha 10, 59kDa 2
  • Gap Junction Alpha-10 Protein 4
  • Gap Junction Alpha 10 3
  • Connexin-59 4
  • CX58 3
  • CX59 3
  • Cx58 4
  • Cx59 4

External Ids for GJA9 Gene

Previous HGNC Symbols for GJA9 Gene

  • GJA10

Previous GeneCards Identifiers for GJA9 Gene

  • GC15M032832
  • GC01M039112
  • GC01M039339
  • GC01M037457

Summaries for GJA9 Gene

Entrez Gene Summary for GJA9 Gene

  • Connexins, such as GJA9, 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 GJA9 Gene

GJA9 (Gap Junction Protein Alpha 9) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport and Gap junction trafficking. An important paralog of this gene is GJA10.

UniProtKB/Swiss-Prot Summary for GJA9 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 GJA9 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 GJA9 Gene

No data available for CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GJA9 Gene

Genomics for GJA9 Gene

GeneHancer (GH) Regulatory Elements for GJA9 Gene

Promoters and enhancers for GJA9 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
GH01J038881 Promoter 0.3 EPDnew 750.6 +0.0 19 0.1 ENSG00000274944 GJA9 GJA9-MYCBP lnc-AKIRIN1-1 ENSG00000228436
GH01J038989 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.4 -111.8 -111815 8.3 SP1 SREBF1 SIX5 ZBTB6 FOXA1 SMARCE1 RBPJ POLR2A NR2F6 ATF1 AKIRIN1 NDUFS5 PPIEL PPIE TRIT1 RHBDL2 GJA9 MYCBP UTP11 ENSG00000228436
GH01J039025 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.1 -145.0 -144961 2.4 ZNF785 ZBTB40 ZBTB6 POLR2A ATF1 CREB1 HCFC1 MYC CC2D1A ZNF701 NDUFS5 NONHSAG001106.2 lnc-RHBDL2-2 PPIE MYCBP PPIEL TRIT1 PABPC4-AS1 SNORA55 AKIRIN1
GH01J039102 Promoter/Enhancer 2 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.7 -224.1 -224105 7.1 ZBTB40 CTCF MIXL1 RUNX1 ZNF133 CC2D1A ELF1 RELA L3MBTL2 RAD21 PPIEL TRIT1 KIAA0754 MACF1 ENSG00000226438 OXCT2P1 GJA9 MYCBP PABPC4 BMP8A
GH01J039080 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.1 -200.0 -200039 2.3 ZNF24 L3MBTL2 ZKSCAN8 GLIS2 ZBTB8A LARP7 PATZ1 POLR2A RFX1 SP2 MACF1 KIAA0754 ENSG00000226438 MYCBP GJA9 BMP8A lnc-NDUFS5-7 RF00017-168
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GJA9 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GJA9 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • HFH-1
  • NF-AT
  • NF-AT1
  • NF-AT2
  • POU2F1
  • POU2F1a

Genomic Locations for GJA9 Gene

Genomic Locations for GJA9 Gene
chr1:38,874,067-38,881,626
(GRCh38/hg38)
Size:
7,560 bases
Orientation:
Minus strand
chr1:39,330,175-39,347,298
(GRCh37/hg19)
Size:
17,124 bases
Orientation:
Minus strand

Genomic View for GJA9 Gene

Genes around GJA9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GJA9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GJA9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GJA9 Gene

Proteins for GJA9 Gene

  • Protein details for GJA9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P57773-CXA9_HUMAN
    Recommended name:
    Gap junction alpha-9 protein
    Protein Accession:
    P57773
    Secondary Accessions:
    • B2R722
    • B3KVQ2
    • Q5TA63
    • Q96KG0

    Protein attributes for GJA9 Gene

    Size:
    515 amino acids
    Molecular mass:
    58842 Da
    Quaternary structure:
    • A connexon is composed of a hexamer of connexins.

    Alternative splice isoforms for GJA9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GJA9 Gene

Post-translational modifications for GJA9 Gene

No Post-translational modifications

Other Protein References for GJA9 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GJA9 Gene

Domains & Families for GJA9 Gene

Gene Families for GJA9 Gene

Protein Domains for GJA9 Gene

Suggested Antigen Peptide Sequences for GJA9 Gene

GenScript: Design optimal peptide antigens:
  • Gap junction protein (C9IYK1_HUMAN)
  • Gap junction alpha-10 protein (CXA9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P57773

UniProtKB/Swiss-Prot:

CXA9_HUMAN :
  • Belongs to the connexin family. Alpha-type (group II) subfamily.
Family:
  • Belongs to the connexin family. Alpha-type (group II) subfamily.
genes like me logo Genes that share domains with GJA9: view

Function for GJA9 Gene

Molecular function for GJA9 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.
GENATLAS Biochemistry:
gap junction protein alpha 9,31kDa,(connexin 31),expressed in epidermis,mouse Cx 31 homolog,monomer of the connexon (six subunits)

Phenotypes From GWAS Catalog for GJA9 Gene

genes like me logo Genes that share phenotypes with GJA9: view

Animal Model Products

CRISPR Products

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 GJA9 Gene

Localization for GJA9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GJA9 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 GJA9 gene
Compartment Confidence
plasma membrane 3

Gene Ontology (GO) - Cellular Components for GJA9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005921 gap junction IEA --
GO:0005922 connexin complex IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GJA9: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GJA9 Gene

Pathways & Interactions for GJA9 Gene

genes like me logo Genes that share pathways with GJA9: view

Interacting Proteins for GJA9 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network
Selected Interacting proteins: ENSP00000354020 P57773-CXA9_HUMAN for GJA9 Gene via STRING IID

Gene Ontology (GO) - Biological Process for GJA9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007154 cell communication IEA --
genes like me logo Genes that share ontologies with GJA9: view

No data available for SIGNOR curated interactions for GJA9 Gene

Drugs & Compounds for GJA9 Gene

(9) Drugs for GJA9 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
Scrambled 10Panx Pharma Panx-1 mimetic inhibitory peptide, blocks pannexin-1 gap junctions, Scrambled version of 10Panx (Cat. No. 3348), Panx-1 mimetic inhibitory peptide 0

(5) Tocris Compounds for GJA9 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

(2) ApexBio Compounds for GJA9 Gene

Compound Action Cas Number
10Panx Panx-1 mimetic inhibitor 955091-53-9
Scrambled 10Panx Panx-1 mimetic inhibitory peptide, blocks pannexin-1 gap junctions 1315378-72-3
genes like me logo Genes that share compounds with GJA9: view

Drug Products

Transcripts for GJA9 Gene

mRNA/cDNA for GJA9 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(538) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GJA9 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b
SP1: - - - -
SP2: -
SP3: - - -
SP4:
SP5: -

Relevant External Links for GJA9 Gene

GeneLoc Exon Structure for
GJA9
ECgene alternative splicing isoforms for
GJA9

Expression for GJA9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GJA9 Gene

NURSA nuclear receptor signaling pathways regulating expression of GJA9 Gene:

GJA9

mRNA Expression by UniProt/SwissProt for GJA9 Gene:

P57773-CXA9_HUMAN
Tissue specificity: Highly abundant in skeletal muscle. Also detected in testis.
genes like me logo Genes that share expression patterns with GJA9: 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 GJA9 Gene

Orthologs for GJA9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GJA9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GJA9 33 32
  • 99.81 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GJA9 33 32
  • 86.65 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GJA9 33 32
  • 86.09 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GJA9 33
  • 53 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gja1 33
  • 32 (a)
ManyToMany
chicken
(Gallus gallus)
Aves GJA9 33 32
  • 60.5 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gja9 32
  • 59.9 (n)
zebrafish
(Danio rerio)
Actinopterygii cx52.9 33 32
  • 58.28 (n)
OneToMany
CX55.5 33
  • 49 (a)
OneToMany
Species where no ortholog for GJA9 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GJA9 Gene

ENSEMBL:
Gene Tree for GJA9 (if available)
TreeFam:
Gene Tree for GJA9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GJA9: view image

Paralogs for GJA9 Gene

(19) SIMAP similar genes for GJA9 Gene using alignment to 3 proteins:

  • CXA9_HUMAN
  • C9IYK1_HUMAN
  • L8EB75_HUMAN
genes like me logo Genes that share paralogs with GJA9: view

Variants for GJA9 Gene

Sequence variations from dbSNP and Humsavar for GJA9 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000430978 -- 38,880,954(-) G/A intron_variant
rs1001189791 -- 38,878,520(-) A/G intron_variant
rs1001570331 -- 38,880,852(-) A/G/T intron_variant
rs1001674950 -- 38,880,188(-) A/T intron_variant
rs1002084368 -- 38,874,208(-) A/G 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for GJA9 Gene

Variant ID Type Subtype PubMed ID
esv3585774 CNV loss 21293372

Variation tolerance for GJA9 Gene

Residual Variation Intolerance Score: 56% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.08; 68.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GJA9 Gene

Human Gene Mutation Database (HGMD)
GJA9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GJA9

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GJA9 Gene

Disorders for GJA9 Gene

Additional Disease Information for GJA9

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

No disorders were found for GJA9 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GJA9 Gene

Publications for GJA9 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
  2. 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 56
  3. Selected reaction monitoring mass spectrometry reveals the dynamics of signaling through the GRB2 adaptor. (PMID: 21706016) Bisson N … Pawson T (Nature biotechnology 2011) 3 56
  4. Single-nucleotide polymorphisms, acute rejection, and severity of tubulitis in kidney transplantation, accounting for center-to-center variation. (PMID: 21085059) Israni A … DeKAF Investigators (Transplantation 2010) 43 56
  5. Expression of connexin genes in the human retina. (PMID: 20979653) Söhl G … Willecke K (BMC ophthalmology 2010) 3 56

Products for GJA9 Gene

Sources for GJA9 Gene