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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GJA1 Gene

protein-coding   GIFtS: 71
GCID: GC06P121756

gap junction protein, alpha 1, 43kDa

(Previous names: gap junction protein, alpha-like, gap junction protein,...)
(Previous symbols: ODDD, GJAL)
 Explore 133 diseases affiliated with
GJA1 via
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Biological research products
for GJA1    

Aliases
for GJA1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Gap Junction Protein, Alpha 1, 43kDa1 2     Gap Junction Protein, Alpha-Like1
GJAL1 2 3     AVSD32
CX431 2 5     DFNB382
ODDD1 2 5     HLHS12
Gap Junction 43 KDa Heart Protein2 3     Connexin 432
ODOD1 5     Connexin-433
SDTY31 5     Gap Junction Alpha-1 Protein2
HSS2 5     Connexin-433
ODD1     Cx433
Gap Junction Protein, Alpha 1, 43kDa (Connexin 43)1     

External Ids:    HGNC: 42741   Entrez Gene: 26972   Ensembl: ENSG000001526617   OMIM: 1210145   UniProtKB: P173023   

Export aliases for GJA1 gene to outside databases

Previous GC identifers: GC06P121527 GC06P121714 GC06P121737 GC06P121798 GC06P119340


Summaries
for GJA1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for GJA1:
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. The encoded protein is the major protein of gap junctions in the heart that are thought to have a
crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless
pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital
dysplasia and heart malformations. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CXA1_HUMAN, P17302
Function: Gap junction protein that acts as a regulator of bladder capacity. A 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. May play a critical role in the physiology of hearing by participating in the recycling of
potassium to the cochlear endolymph. Negative regulator of bladder functional capacity: acts by enhancing
intercellular electrical and chemical transmission, thus sensitizing bladder muscles to cholinergic neural stimuli and
causing them to contract (By similarity)

summary for GJA1:
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.

Gene Wiki entry for GJA1 (Gap junction protein, alpha 1)


Genomic Views
for GJA1 gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GJA1 gene promoter:
         PPAR-gamma1   Sp1   COMP1   Cart-1   MyoD   CUTL1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GJA1 promoter sequence
   Search SABiosciences Chromatin IP Primers for GJA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GJA1


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

Entrez Gene cytogenetic band: 6q21-q23.2   Ensembl cytogenetic band:  6q22.31   HGNC cytogenetic band: 6q22-q23

GJA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GJA1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P121756:  view genomic region     (about GC identifiers)

Start:
 121,756,745 bp from pter      End:
 121,770,873 bp from pter
Size:
 14,129 bases      Orientation:
 plus strand

Proteins
for GJA1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: CXA1_HUMAN, P17302 (See protein sequence)
Recommended Name: Gap junction alpha-1 protein  
Size: 382 amino acids; 43008 Da
Subunit: A connexon is composed of a hexamer of connexins. Interacts (via C-terminus) with TJP1. Interacts (via
C-terminus) with SRC (via SH3 domain). Interacts with UBQLN4 (By similarity). Interacts with SGSM3. Interacts with
KIAA1432/CIP150. Interacts with CNST and CSNK1D
Subcellular location: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction
Caution: PubMed:7715640 reported a mutation Pro-364 linked to congenital heart diseases. PubMed:8873667 later shown
that it is an artifact
Caution: PubMed:11741837 reported 2 mutations (Phe-11 and Ala-24) linked to non-syndromic autosomal recessive deafness
(DFNBG). These mutations have subsequently been shown (PubMed:12457340) to involve the pseudogene of connexin-43
located on chromosome 5
1 PDB 3D structure from and Proteopedia for GJA1:
2LL2 (3D)    
Secondary accessions: B2R5U9 Q6FHU1 Q9Y5I8

Explore the universe of human proteins at neXtProt for GJA1: NX_P17302

Post-translational modifications:

  • Phosphorylated at Ser-368 by PRKCG; phosphorylation induces disassembly of gap junction plaques and inhibition of gap
    • junction activity (By similarity). Phosphorylation at Ser-325, Ser-328 and Ser-330 by CK1 modulates gap junction
    assembly1
  • Sumoylated with SUMO1, SUMO2 and SUMO3, which may regulate the level of functional Cx43 gap junctions at the plasma
    • membrane. May be desumoylated by SENP1 or SENP21
  • S-nitrosylation at Cys-271 is enriched at the muscle endothelial gap junction in arteries, it augments channel
    • permeability and may regulate of smooth muscle cell to endothelial cell communication1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P17302

    • GJA1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000156.1  
    ENSEMBL proteins: 
     ENSP00000282561  
    Reactome Protein details: P17302
    Human Recombinant Protein Products: 
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for GJA1

    Gene Ontology (GO): 5/25 cellular component terms (GO ID links to tree view) (see all 25):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005624membrane fraction ----
    GO:0005737cytoplasm ----
    GO:0005741mitochondrial outer membrane IEA--
    GO:0005764lysosome IEA--


    GJA1 for ontologies           About GeneDecksing



    GJA1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of GJA1
    R&D Systems Antibodies for GJA1 (Connexin 43/GJA1)
    Cell Signaling Technology (CST) Antibodies for GJA1  (Cx43)
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    Uscn ELISAs and CLIAs for GJA1

    Protein Domains /
    Families
    for GJA1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    GJA1 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR000500 Connexin
     IPR013124 Connexin43_C
     IPR019570 Connexin_CCC
     IPR013092 Connexin_N
     IPR002261 Connexin43

    Graphical View of Domain Structure for InterPro Entry P17302

    ProtoNet protein and cluster: P17302

    3 Blocks protein families:
    IPB002261 Gap junction alpha-1 protein (Cx43) signature
    IPB013092 Connexin
    IPB013124 Gap junction alpha-1 protein (Cx43)


    UniProtKB/Swiss-Prot: CXA1_HUMAN, P17302
    Similarity: Belongs to the connexin family. Alpha-type (group II) subfamily


    Function
    for GJA1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: CXA1_HUMAN, P17302
    Function: Gap junction protein that acts as a regulator of bladder capacity. A 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. May play a critical role in the physiology of hearing by participating in the recycling of
    potassium to the cochlear endolymph. Negative regulator of bladder functional capacity: acts by enhancing
    intercellular electrical and chemical transmission, thus sensitizing bladder muscles to cholinergic neural stimuli and
    causing them to contract (By similarity)

         Genatlas biochemistry entry for GJA1:
    gap junction protein,alpha 1,43kDa,connexin 43),expressed in the heart left ventricule,liver,peripheral nervous
    system,monomer of the connexon (six subunits),underexpressed in breast cancer cell (marker for detecting early
    oncogenesis in the breast)

    miRNA
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    hsa-mir-1 (MIRT001984)

    OriGene 3'-UTR Clone: GJA1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GJA1
    8/36 QIAGEN miScript miRNA Assays for microRNAs that regulate GJA1 (see all 36):
    hsa-miR-582-3p hsa-miR-607 hsa-miR-624* hsa-miR-301a hsa-miR-30d hsa-miR-342-3p hsa-miR-30a hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmid: GJA1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GJA1 (see all 7)
    OriGene shRNA RFP: GJA1
    OriGene siRNA: GJA1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GJA1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for GJA1

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GJA1 (see all 3)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GJA1 

    Cell Line
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    Search LifeMap BioReagents cell lines for GJA1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJA1

    Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity IMP12761501
    GO:0005102receptor binding ----
    GO:0005243gap junction channel activity IDA--
    GO:0005515protein binding IPI15709751
    GO:0015075ion transmembrane transporter activity TAS1696265


    GJA1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for GJA1:
     Decreased focal adhesion (FA)   Stronger migration 

    Animal Models:
         Mouse knock-outs for GJA1: Gja1tm1.1Kwi Gja1tm1Kdr Gja1tm1.1Gfi
         15/23 MGI mutant phenotypes (inferred from 22 alleles) (MGI details for Gja1) (see all 23):
     behavior/neurological  cardiovascular system  cellular  craniofacial  embryogenesis 
     endocrine/exocrine gland  growth/size  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism 
     immune system  integument  limbs/digits/tail  mortality/aging  muscle 

    GJA1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for GJA1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/20 super-pathways (see all 20) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Oligomerization of connexins into connexons
    		Oligomerization of connexins into connexons1.00
    		Regulation of gap junction activity0.20
    		Transport of connexins along the secretory pathway1.00
    		c-src mediated regulation of Cx43 function and closure of gap junctions0.20
    		Synthesis of Cx430.33
    2Formation of annular gap junctions
    		Formation of annular gap junctions1.00
    		Lysosomal degradation of gap junction plaques0.92
    		Gap junction degradation0.92
    3Gap junction assembly
    		Gap junction assembly1.00
    		Gap junction trafficking and regulation0.70
    		Gap junction trafficking0.74
    4Cell adhesion_Gap junctions
    		Cell adhesion_Gap junctions1.00
    		Cell adhesion Gap junctions0.89
    5Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane
    		Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane1.00
    		Transport of connexons to the plasma membrane0.93

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5 EMD Millipore Pathways for GJA1
        Potassium transporters- inward current
    Cell adhesion Gap junctions
    Selected targets of Oct-3/4
    Cell adhesion Endothelial cell contacts by junctional mechanisms
    Potassium transporters- outward current

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for GJA1
        Signaling in Gap Junctions

    2 Cell Signaling Technology (CST) Pathways for GJA1
        Cytoskeletal Signaling
    Adhesion

    2 GeneGo (Thomson Reuters) Pathways for GJA1
        Cell adhesion Endothelial cell contacts by junctional mechanisms
    Cell adhesion Gap junctions

    5/7 BioSystems Pathways for GJA1 (see all 7) 
        Myometrial Relaxation and Contraction Pathways
    EGFR1 Signaling Pathway
    Calcium Regulation in the Cardiac Cell
    SIDS Susceptibility Pathways
    Arrhythmogenic right ventricular cardiomyopathy

    5/14        Reactome Pathways for GJA1 (see all 14)
        Gap junction degradation
    Membrane Trafficking
    Formation of annular gap junctions
    c-src mediated regulation of Cx43 function and closure of gap junctions
    Regulation of gap junction activity

    1 PharmGKB Pathway for GJA1
        Antiarrhythmic Pathway, Pharmacodynamics

    2         Kegg Pathways  (Kegg details for GJA1):
        Gap junction
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)


    GJA1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GJA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/82 Interacting proteins for GJA1 (P173022, 3 ENSP000002825614) via UniProtKB, MINT, STRING, and/or I2D (see all 82)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TJP1Q071572, 3, ENSP000002815374MINT-3088474 MINT-1791009 MINT-1791038 I2D: score=5 STRING: ENSP00000281537
    SRCP129312, 3, ENSP000003509414MINT-8026668 I2D: score=4 STRING: ENSP00000350941
    CAV1Q031353, ENSP000003391914I2D: score=3 STRING: ENSP00000339191
    CSNK1DP487303, ENSP000003244644I2D: score=3 STRING: ENSP00000324464
    MAPK7Q131643, ENSP000003110054I2D: score=3 STRING: ENSP00000311005
    About this table

    Gene Ontology (GO): 5/36 biological process terms (GO ID links to tree view) (see all 36):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development ----
    GO:0001764neuron migration ----
    GO:0001947heart looping ----
    GO:0002070epithelial cell maturation ----
    GO:0006810transport TAS1696265


    GJA1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for GJA1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GJA1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for GJA1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Gap 26Gap junction blocker; inhibits smooth muscle contraction and IP3-mediated ATP release[197250-15-0]
    Gap 27Selective gap junction blocker[198284-64-9]

    1 DrugBank Compound for GJA1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Carvedilol-- 72956-09-3targetother16448880 16563290

    10/117 Novoseek chemical compound relationships for GJA1 gene (see all 117)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    oddd 93.1 72 18269311 (6), 17420259 (4), 16219735 (3), 16418219 (3) (see all 23)
    connexin 45 82.7 25 9693379 (6), 14678136 (3), 7877871 (2), 15094345 (2) (see all 9)
    18alpha-glycyrrhetinic acid 82.4 9 10362727 (2), 11880266 (1), 12509912 (1), 20512937 (1) (see all 7)
    heptanol 68.7 1 11716536 (1)
    connexin 42 67.6 3 8204908 (1), 7818094 (1)
    glycyrrhetinic acid 63.6 2 12651152 (1), 16328273 (1)
    carbenoxolone 61.4 5 15843434 (1), 20406988 (1), 15987459 (1), 18837047 (1) (see all 5)
    oleamide 58.2 3 17570214 (1), 10207896 (1)
    cx38 57.7 2 9598590 (1), 12456713 (1)
    ganciclovir 52.1 12 15891776 (2), 8700844 (1), 9930323 (1), 11769669 (1) (see all 8)

    Search CenterWatch for drugs/clinical trials and news about GJA1 / CXA1 

    Transcripts
    for GJA1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
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    About This Section
    REFSEQ mRNAs for GJA1 gene: 
    NM_000165.3  

    Unigene Cluster for GJA1:

    Gap junction protein, alpha 1, 43kDa
    Hs.74471  [show with all ESTs]
    Unigene Representative Sequence: NM_000165
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000282561(uc011ebo.1 uc011ebp.1 uc003pyr.3)

    miRNA
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    hsa-miR-582-3p hsa-miR-607 hsa-miR-624* hsa-miR-301a hsa-miR-30d hsa-miR-342-3p hsa-miR-30a hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmid: GJA1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GJA1 (see all 7)
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    OriGene siRNA: GJA1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GJA1
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GJA1
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    GenScript: all cDNA clones in your preferred vector: GJA1 (NM_000165)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GJA1 
    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GJA1

    Additional cDNA sequence: 

    AK223289.1 AK294670.1 AK295460.1 AK297402.1 AK297761.1 AK297764.1 AK309377.1 AK309490.1 
    AK312324.1 AK316159.1 BC026329.1 CR541660.1 M65188.1 X52947.1 

    13 DOTS entries:

    DT.75164162  DT.100823493  DT.100761073  DT.92456426  DT.100696819  DT.95231061  DT.102833081  DT.121394848 
    DT.121394850  DT.121394936  DT.92456424  DT.121394931  DT.95231049 

    24/391 AceView cDNA sequences (see all 391):

    AW241949 AA453566 AA130157 AA565520 CR541660 AA890492 CA413943 CA412226 
    BM722776 CB156043 CA411819 AA740206 BP346255 AA604780 AA339604 BG319469 
    N51984 AA248496 BU608745 AU121200 AI873718 CB116451 AU132002 BG679966 

    GeneLoc Exon Structure


    Expression
    for GJA1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GJA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTTCTGGAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    GJA1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/22 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 22) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Head MesenchymeBranchial Arch 3,4,6Cardiac Neural Crest CellsNeural Crest
    HeartFast Conducting SystemVentricular Conductive CellsMyocardium
    HeartOuter CurvatureCardiomyocytesMyocardium
    HeartOutflow TractNeural Crest Outflow Tract CellsNeural Crest
    Lateral Plate MesodermProepicardiumProepicardial Progenitor cellsEpicardium
    HeartInner CurvatureCardiomyocytesMyocardium
    BrainAnterior MeningesMeningeal CellsMeninges
    Extraembryonic MesodermExtraembryonic Blood IslandsExtraembryonic AngioblastsEndothelium
    Extraembryonic MesodermExtraembryonic MesodermExtraembryonic Mural CellsExtraembryonic Tissues
    EyeCiliary Marginal ZoneCiliary Marginal Zone CellsNeural Ectoderm
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10 LifeMap Cells 
    NameCategory
    Line H1 (WA01) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor E69 (Embryonic Progenitor Cell)
    Encapsulated Embryoid Bodies (Induction of cardiac...)
    Optic cup (Generation of retina...)
    Beating embryoid bodies (Cardiac differentiat...)
    Dorsal forebrain-like neurons (Generation of midbra...)Brain
    Definitive endoderm-like cells (A scalable, suspensi...)
    Matrigel embedded cells (Derivation of cardio...)

    See GJA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GJA1

    SOURCE GeneReport for Unigene cluster: Hs.74471

    UniProtKB/Swiss-Prot: CXA1_HUMAN, P17302
    Tissue specificity: Expressed in the heart and fetal cochlea

        SABiosciences Expression via Pathway-Focused PCR Arrays including GJA1 (see all 7): 
              WNT Signaling Targets in human mouse rat
              PI3K-AKT Signaling Pathway in human mouse rat
              Cell Junction PathwayFinder in human mouse rat
              Huntington's Disease in human mouse rat
              Gap Junctions in human mouse rat

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for GJA1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for GJA1 gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves GJA11 gap junction protein, alpha 1, 43kDa 82.15(n)
    93.7(a)    		   395278  NM_204586.1  NP_989917.1 
    lizard
    (Anolis carolinensis)    		 Reptilia GJA16
    		 --
    		 85(a)
    		 1 ↔ 1
    		 1(182897779-182898927)
    African clawed frog
    (Xenopus laevis)    		 Amphibia gja1-A2 gap junction protein, alpha 1, 43kDa 77.27(n)    X17243.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii cx432 connexin 43 75.63(n)   30236  AF035481.1 


    ENSEMBL Gene Tree for GJA1 (if available)
    TreeFam Gene Tree for GJA1 (if available) 

    Paralogs
    for GJA1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GJA1 gene
    GJB32  GJA102  GJB62  GJA42  GJC12  GJB52  GJC22  GJA52  
    GJD22  GJA32  GJA92  GJD32  GJB42  GJB22  GJB72  GJA82  
    GJB12  
    16 SIMAP similar genes for GJA1 using alignment to 1 protein entry:     CXA1_HUMAN:
    GJA8    GJA10    GJB1    GJB2    GJA4    GJA5
    GJA9    GJB6    GJD2    GJB4    GJB7    GJC1
    GJA3    GJB5    GJB3    GJD3

    GJA1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for GJA1
    PGOHUM00000251326 PGOHUM00000241658


    Genomic Variants
    for GJA1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/293 NCBI SNPs in GJA1 are shown (see all 293)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048939651,2
    		C,Fpathogenic190893240(+) ACCTCG/AGCCTG 2 /Q /R mis12Minor allele frequency- A:0.00NA EU 4691
    rs22278851,2
    		C,F,pathogenic190893282(+) CCAGCG/AACCTT 2 /Q /R mis11Minor allele frequency- A:0.43MN 44
    rs289316001,2
    		Cpathogenic190893940(+) AGCATG/AGTAAG 2 /S /G mis11Minor allele frequency- A:0.00NA 2
    rs289316011,2
    		Cpathogenic190894081(+) CTCATG/ATGTTC 2 /M /V mis1 ese31Minor allele frequency- A:0.00NA 2
    rs1048939621,2
    		Cpathogenic190894315(+) CCTACC/TCAACT 2 P S mis10--------
    rs1048939611,2
    		Cpathogenic190894317(+) AGCCTA/CCTCAA 2 Y S mis10--------
    rs131934931,2
    		C,H--119338536(+) AAAGAA/CCAATA 1 -- us2k14Minor allele frequency- C:0.00NS EA 374
    rs19252241,2
    		H--119339310(+) ATATGC/TTCAGC 1 -- us2k15Minor allele frequency- T:0.00MN NS EA 600
    rs170836251,2
    		C,F,H,--119339523(+) AGAGGT/CCAGAT 1 -- us2k116Minor allele frequency- C:0.15NA NS EA WA CSA 1745
    rs671447411,2
    		C,F,--119339584(+) ATACAC/TACACA 1 -- us2k15Minor allele frequency- T:0.05WA NA 532

    HapMap Linkage Disequilibrium report for GJA1 (121756745 - 121770873 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for GJA1: --
    Human Gene Mutation Database (HGMD): GJA1

    Locus Specific Mutation Databases (LSDB): GJA1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GJA1
    DNA2.0 Custom Variant and Variant Library Synthesis for GJA1

    Disorders / Diseases
    for GJA1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    GJA1 for disorders           About GeneDecksing

    OMIM gene information: 121014   
    OMIM disorders: 164200  186100  241550  600309  257850  234100  
    UniProtKB/Swiss-Prot: CXA1_HUMAN, P17302
  • Defects in GJA1 are the cause of oculodentodigital dysplasia (ODDD) [MIM:164200]; also known as
    • oculodentoosseous dysplasia. ODDD is a highly penetrant syndrome presenting with craniofacial (ocular, nasal, dental)
    and limb dysmorphisms, spastic paraplegia, and neurodegeneration. Craniofacial anomalies tipically include a thin nose
    with hypoplastic alae nasi, small anteverted nares, prominent columnella, and microcephaly. Brittle nails and hair
    abnormalities of hypotrichosis and slow growth are present. Ocular defects include microphthalmia, microcornea,
    cataracts, glaucoma, and optic atrophy. Syndactyly type 3 and conductive deafness can occur in some cases. Cardiac
    abnormalities are observed in rare instances
  • Defects in GJA1 are the cause of oculodentodigital dysplasia, autosomal recessive (ODDD-AR) [MIM:257850]
  • Defects in GJA1 may be the cause of syndactyly type 3 (SDTY3) [MIM:186100]. Syndactyly is an autosomal
    • dominant trait and is the most common congenital anomaly of the hand or foot. It is marked by persistence of the
    webbing between adjacent digits, so they are more or less completely attached. In this type there is usually complete
    and bilateral syndactyly between the fourth and fifth fingers. Usually it is soft tissue syndactyly but occasionally
    the distal phalanges are fused. The fifth finger is short with absent or rudimentary middle phalanx. The feet are not
    affected
  • Defects in GJA1 are a cause of hypoplastic left heart syndrome type 1 (HLHS1) [MIM:241550]. A syndrome due to
    • defective development of the aorta proximal to the entrance of the ductus arteriosus, and hypoplasia of the left
    ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are
    patent and the right atrium, right ventricle, and pulmonary artery are enlarged
  • Defects in GJA1 are a cause of Hallermann-Streiff syndrome (HSS) [MIM:234100]. HSS is a disorder characterized
    • by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose,
    micrognathia, skin atrophy, dental anomalies and proportionate short stature. Mental retardation is present in a
    minority of cases
  • Defects in GJA1 are a cause of atrioventricular septal defect type 3 (AVSD3) [MIM:600309]. A congenital heart
    • malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation.
    The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the
    ventricular septum. A less severe form, known as ostium primum atrial septal defect, has a deficiency of the atrial
    septum

    20/133 diseases for GJA1 (see all 133):    About MalaCards
    oculodentodigital dysplasia    oculodentodigital dysplasia, autosomal recessive    peripheral neuropathy    hallermann-streiff syndrome
    axenfeld-rieger syndrome    hailey-hailey disease    middle ear cholesteatoma    hypoplastic left heart syndrome
    dental enamel hypoplasia    neuropathy    atrioventricular septal defect    developmental disabilities
    temporal lobe epilepsy    craniofacial anomalies    atrial fibrillation    dilated cardiomyopathy
    syndactyly    basaloid squamous cell carcinoma    cataract-glaucoma    syndactyly type 3

    6 diseases from the University of Copenhagen DISEASES database for GJA1:
    Heart disease     Syndactyly     Vascular disease     Hallermann-Streiff syndrome
    Malignant glioma     Dental enamel hypoplasia

    10/94 Novoseek disease relationships for GJA1 gene (see all 94)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    oculodentodigital dysplasia 93.1 49 12457340 (3), 15637728 (2), 16219735 (2), 15644317 (2) (see all 21)
    oculodentodigital dysplasia syndrome 78.8 2 16410543 (1), 19847613 (1)
    syndactyly 54.3 2 15637728 (1), 19439426 (1)
    keratoderma palmoplantar 49.7 2 15551259 (2)
    arrhythmia 48.6 17 18201716 (2), 12448696 (1), 15495803 (1), 16690883 (1) (see all 16)
    glioma 47 72 9989416 (5), 20074329 (4), 11180621 (3), 18004727 (3) (see all 28)
    neoplastic transformation 46.4 7 7495228 (1), 11142098 (1), 15194214 (1), 12635093 (1) (see all 6)
    glioblastoma 36.7 28 12019157 (3), 11279616 (3), 9823317 (3), 11746825 (3) (see all 14)
    acantholysis 36.1 1 10468792 (1)
    tumors 33.8 173 15567553 (6), 15642212 (5), 14519646 (4), 1324944 (3) (see all 77)

    Genetic Association Database (GAD): GJA1
    Human Genome Epidemiology (HuGE) Navigator: GJA1 (17 documents)

    Export disorders for GJA1 gene to outside databases

    Publications
    for GJA1 gene

    (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)
    About This Section

    PubMed articles for GJA1 gene, integrated from 9 sources (see all 996):
    (articles sorted by number of sources associating them with GJA1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. The human connexin gene family of gap junction proteins: distinct chromosomal locations but similar structures. (PubMed id 1646158)1, 2, 3, 9 Fishman G.I.... Leinwand L.A. (1991)
    2. Mutations of connexin43 in fetuses with congenital heart malformations. (PubMed id 15978203)1, 2, 4, 9 Chen P.... Chang C. (2005)
    3. Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). (PubMed id 11470490)1, 2, 4 Dasgupta C....Fletcher W.H. (2001)
    4. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. (PubMed id 12457340)1, 2, 9 Paznekas W.A....Jabs E.W. (2003)
    5. A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype. (PubMed id 14974090)1, 2, 9 Pizzuti A....Dallapiccola B. (2004)
    6. Intercellular calcium signaling via gap junction in connexin-43- transfected cells. (PubMed id 9430691)1, 2, 9 Toyofuku T.... Tada M. (1998)
    7. A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features. (PubMed id 18161618)1, 2, 9 de la Parra D.R. and Zenteno J.C. (2007)
    8. A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia. (PubMed id 16219735)1, 2, 9 Vasconcellos J.P.C.... Costa V.P. (2005)
    9. Phosphorylation of serine 262 in the gap junction protein connexin-43 regulates DNA synthesis in cell-cell contact forming cardiomyocytes. (PubMed id 14702389)1, 2, 9 Doble B.W.... Kardami E. (2004)
    10. Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair. (PubMed id 15108203)1, 2, 9 Kjaer K.W.... Tommerup N. (2004)

    External Searches for GJA1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing GJA1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2697 HGNC: 4274 AceView: GJA1 Ensembl:ENSG00000152661 euGenes: HUgn2697
    ECgene: GJA1 Kegg: 2697 H-InvDB: GJA1

    Other Databases showing GJA1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing GJA1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GJA1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GJA1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GJA1

    Intellectual Property
    for GJA1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for GJA1 gene:
    Search GeneIP for patents involving GJA1

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



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