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GJA9 Gene

protein-coding   GIFtS: 48
GCID: GC01M039339

Gap Junction Protein, Alpha 9, 59kDa

(Previous names: gap junction protein, alpha 10, 59kDa)
(Previous symbol: GJA10)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Gap Junction Protein, Alpha 9, 59kDa1 2     Gap Junction Alpha 102
GJA101 2 3     Gap Junction Alpha-9 Protein2
Connexin 591 2     Connexin-583
CX592 5     Connexin-593
Gap Junction Protein, Alpha 10, 59kDa1     Cx583
CX582     Cx593
connexin-582     Gap Junction Alpha-10 Protein3

External Ids:    HGNC: 191551   Entrez Gene: 810252   Ensembl: ENSG000001312337   OMIM: 6119235   UniProtKB: P577733   
ORGUL members:         

Export aliases for GJA9 gene to outside databases

Previous GC identifers: GC15M032832 GC01M039112 GC01M037457


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, 59kDa) is a protein-coding gene. Diseases associated with GJA9 include peripheral neuropathy, and neuropathy. An important paralog of this gene is GJB3.

UniProtKB/Swiss-Prot: CXA9_HUMAN, P57773
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 (By similarity)

summary for GJA9 Gene:
Gap channels (also known as gap junctions) are specalized cell-cell contacts between almost all eukaryotic
cells that provide direct intracellular communication. Generally, gap channels allow the passive diffusion
of molecules up to 1 kDa which includes nutrients, small metabolites (e.g. glucose), ions (K+, Ca2+) and
second messengers (IP3, cAMP and cGMP). Gap channels allow electrical and biochemical coupling between cells
and in excitable tissues, such as neurons and the heart, enables the generation of synchronized and rapid
responses. Structurally, gap channels are composed of two hemichannels called 'connexons', which themselves
are formed from six connexin molecules. Homo- and heteromeric combinations are seen, which exhibit distinct
permeability, selectivity and functional properties. Pannexins are related to connexins and can also form
gap junctions. However, their expression is limited to the brain. Furthermore, in nonchordate animals a
family of proteins called innexins form these channels. Gap channels are regulated through
post-translational modifications of the C'-terminal cytoplasmic tail and phosphorylation modulates assembly
and their physiological properties. They are continuously synthesized and degraded, allowing tissues to
rapidly adapt to changing environmental conditions. Connexins play a key role in many physiological
processes including cardiac and smooth muscle contraction, regulation of neuronal excitability, epithelial
electrolyte transport and keratinocyte differentiation. Mutations in connexin genes are associated with
human diseases including sensorineural deafness, a variety of skin disorders, peripheral neuropathy and
cardiovascular disease.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the GJA9 gene promoter:
         AP-2gamma   NF-AT   NF-AT2   POU2F1   HFH-1   POU2F1a   AP-2beta   AP-2alpha   NF-AT1   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGJA9 promoter sequence
   Search Chromatin IP Primers for GJA9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GJA9


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p34   Ensembl cytogenetic band:  1p34.3   HGNC cytogenetic band: 1p34

GJA9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GJA9 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M039339:  view genomic region     (about GC identifiers)

Start:
39,330,175 bp from pter      End:
39,347,298 bp from pter
Size:
17,124 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for GJA9

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CXA9_HUMAN, P57773 (See protein sequence)
Recommended Name: Gap junction alpha-9 protein  
Size: 515 amino acids; 58842 Da
Subunit: A connexon is composed of a hexamer of connexins (By similarity)
Secondary accessions: B2R722 B3KVQ2 Q5TA63 Q96KG0
Alternative splicing: 2 isoforms:  P57773-1   P57773-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GJA9: NX_P57773

Explore proteomics data for GJA9 at MOPED


See GJA9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_110399.2  
ENSEMBL proteins: 
 ENSP00000354020   ENSP00000406846   ENSP00000350415  
Reactome Protein details: P57773

GJA9 Human Recombinant Protein Products:

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GJA9 Assay Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
GJ: Ion channels / Gap junction proteins (connexins)

IUPHAR Guide to PHARMACOLOGY protein family classification: Cx59
Connexins and Pannexins

4 InterPro protein domains:
 IPR000500 Connexin
 IPR019570 Connexin_CCC
 IPR013092 Connexin_N
 IPR017990 Connexin_CS

Graphical View of Domain Structure for InterPro Entry P57773

ProtoNet protein and cluster: P57773

1 Blocks protein domain: IPB013092 Connexin

UniProtKB/Swiss-Prot: CXA9_HUMAN, P57773
Similarity: Belongs to the connexin family. Alpha-type (group II) subfamily


GJA9 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: CXA9_HUMAN, P57773
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 (By similarity)

     Genatlas biochemistry entry for GJA9:
gap junction protein alpha 9,31kDa,(connexin 31),expressed in epidermis,mouse Cx 31 homolog,monomer of the
connexon (six subunits)

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GJA9
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   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GJA9
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GJA9

miRNA
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Predesigned siRNA for gene silencing in human, mouse, rat GJA9

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In Situ Assay
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
CXA9_HUMAN, P57773: Cell membrane; Multi-pass membrane protein (By similarity). Cell junction, gap junction (By
similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
plasma membrane5

Gene Ontology (GO): 2 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005922connexon complex IEA--
GO:0016021integral component of membrane IEA--

GJA9 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for GJA9 About    
See pathways by source

SuperPathContained pathways About
1Gap junction trafficking
Gap junction trafficking0.93
Gap junction assembly0.00
Gap junction trafficking and regulation0.93
2Myometrial Relaxation and Contraction Pathways
Calcium Regulation in the Cardiac Cell0.43
3Clathrin derived vesicle budding
Membrane Trafficking0.32

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


1 BioSystems Pathway for GJA9
    Calcium Regulation in the Cardiac Cell

1 Reactome Pathway for GJA9
    Gap junction assembly



GJA9 for pathways           About GeneDecksing

    Pathway & Disease-focused RT2 Profiler PCR Array including GJA9: 
          Gap Junctions in human mouse rat

Interactions:

    Search GeneGlobe Interaction Network for GJA9

STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

Selected Interacting proteins for GJA9 (P577733 ENSP000003504154) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
InteractantInteraction Details
GeneCardExternal ID(s)
CRKP461083I2D: score=1 
SHBQ154643I2D: score=1 
GJA1ENSP000002825614STRING: ENSP00000282561
GJA10ENSP000003583584STRING: ENSP00000358358
GJA3ENSP000002411254STRING: ENSP00000241125
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Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0007154cell communication IEA--

GJA9 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Compounds for GJA9 available from Tocris Bioscience    About this table
CompoundAction CAS #
Gap 27Selective gap junction blocker[198284-64-9]
Scrambled 10Panx Scrambled version of 10Panx (Cat. No. 3348), Panx-1 mimetic inhibitory peptide [1315378-72-3]
Carbenoxolone disodiumGap junction blocker. Also inhibitor of 11 beta-hydroxysteroid dehydrogenase[7421-40-1]
10PanxPanx-1 mimetic inhibitory peptide; blocks pannexin-1 gap junctions[955091-53-9]

4 IUPHAR Ligands for GJA9 (Cx59)    About this table
LigandTypeActionAffinityPubmed IDs
flufenamic acid
InhibitorNone--
octanol
InhibitorNone--
Ca2+
InhibitorNone--
carbenoxolone
InhibitorNone--



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for GJA9 gene: 
NM_030772.4  

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000360786(uc021olr.1) ENST00000454994 ENST00000357771
miRNA
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Primer
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  QuantiFast Probe-based Assays in human, mouse, rat GJA9

Selected AceView cDNA sequences (see all 538):

CA449149 BQ447422 AA495838 AA505988 BF001242 AI765647 BU074285 BE502536 
BU947399 BU618840 AA932556 BU732697 T63879 BU786190 CB157846 N76843 
AI375283 AW024166 AA504831 BC016668 AU123841 AY126343 CB044952 T32367 

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for GJA9    About this scheme

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


ECgene alternative splicing isoforms for GJA9

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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GJA9 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TTCAGAATTG
GJA9 Expression
About this image

GJA9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

GJA9 Protein Expression

UniProtKB/Swiss-Prot: CXA9_HUMAN, P57773
Tissue specificity: Highly abundant in skeletal muscle. Also detected in testis

    Pathway & Disease-focused RT2 Profiler PCR Array including GJA9: 
          Gap Junctions in human mouse rat

Primer
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJA9

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for GJA9 gene from Selected species (see all 8)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chicken
(Gallus gallus)
Aves GJA91 gap junction protein, alpha 9, 59kDa 60.5(n)
56.06(a)
  100859395  XM_004947747.1  XP_004947804.1 
tropical clawed frog
(Xenopus tropicalis)
Amphibia gja91 gap junction protein, alpha 9, 59kDa 59.9(n)
52.54(a)
  100497653  XM_002938738.2  XP_002938784.1 
zebrafish
(Danio rerio)
Actinopterygii cx52.91 connexin 52.9 58.28(n)
60.18(a)
  404625  NM_207093.1  NP_996976.1 
        Species with no ortholog for GJA9

ENSEMBL Gene Tree for GJA9 (if available)
TreeFam Gene Tree for GJA9 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for GJA9 gene
GJB32  GJA102  GJD32  GJB62  GJB42  GJB22  GJB72  GJA42  
GJB52  GJA12  GJC12  GJC22  GJA52  GJD22  GJA32  GJA82  
GJB12  
Selected SIMAP similar genes for GJA9 using alignment to 3 protein entries:     CXA9_HUMAN (see all proteins) (see all similar genes):
GJA3    GJA4    GJB2    GJB1    GJA5    GJA10
GJA1    GJA8    GJB5    GJB6    GJD3    GJB4
GJD2    GJB3    GJB7    GJC1    GJC2    GJC3

GJA9 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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1 SNPs for GJA9    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs8803031,2,4
----see VAR_0193922 mis40--------

HapMap Linkage Disequilibrium report for GJA9 (39330175 - 39347298 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for GJA9: --
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing GJA9
DNA2.0 Custom Variant and Variant Library Synthesis for GJA9

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 611923    OMIM disorders: --

3 diseases for GJA9:    
About MalaCards
peripheral neuropathy    neuropathy    neuronitis


GJA9 for disorders           About GeneDecksing

Genetic Association Database (GAD): GJA9
Human Genome Epidemiology (HuGE) Navigator: GJA9 (3 documents)

Export disorders for GJA9 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for GJA9 gene, integrated from 10 sources (see all 13):
(articles sorted by number of sources associating them with GJA9)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
  2. Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues. (PubMed id 12881038)1, 2 Soehl G.... Willecke K. (Cell Commun. Adhes. 2003)
  3. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
  4. Selected reaction monitoring mass spectrometry reveals the dynamics of signaling through the GRB2 adaptor. (PubMed id 21706016)1 Bisson N....Pawson T. (Nat. Biotechnol. 2011)
  5. Single-nucleotide polymorphisms, acute rejection, and severity of tubulitis in kidney transplantation, accounting for center-to-center variation. (PubMed id 21085059)4 Israni A....Oetting W.S. (Transplantation 2010)
  6. Expression of connexin genes in the human retina. (PubMed id 20979653)1 SAPhl G....Willecke K. (BMC Ophthalmol 2010)
  7. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
  8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1 Gerhard D.S.... Malek J. (Genome Res. 2004)
  9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
  10. [Molecular cloning of the human CX 58 gene]. (PubMed id 11941580)1 Lu C....Xia J. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 81025 HGNC: 19155 AceView: MYCBPandRHBDL2andRRAGCandGJA10 Ensembl:ENSG00000131233 euGenes: HUgn81025
ECgene: GJA9 H-InvDB: GJA9

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for GJA9 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for GJA9 gene:
Search GeneIP for patents involving GJA9

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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