Gene: GJA1

  • Entrez Gene ID

  • Symbol

    • GJA1
  • Synonyms

    • AVSD3, CX43, DFNB38, GJAL, HLHS1, HSS, ODDD
  • Description

    • gap junction protein, alpha 1, 43kDa
  • Type of Gene

    • protein-coding
  • Chromosome

    • 6
  • Location

    • 6q21-q23.2
  • RNA Seq 1

    Sample Expression RPKM
    adipose
    8.68
    colon
    2.6
    heart
    25.39
    hypothalamus
    58.67
    kidney
    3.46
    liver
    0.4
    lung
    17.94
    ovary
    20.63
    skeletalmuscle
    3.11
    spleen
    2.28
    testes
    17.99
  • Protein

    Tissue Cell type Staining level Reliability
    adrenal gland glandular cells Strong Uncertain
    appendix glandular cells Negative Uncertain
    appendix lymphoid tissue Negative Uncertain
    bone marrow hematopoietic cells Weak Uncertain
    breast glandular cells Weak Uncertain
    bronchus respiratory epithelial cells Negative Uncertain
    cerebellum cells in granular layer Weak Uncertain
    cerebellum cells in molecular layer Negative Uncertain
    cerebellum Purkinje cells Negative Uncertain
    cerebral cortex glial cells Weak Uncertain
    cerebral cortex neuronal cells Moderate Uncertain
    cervix, uterine glandular cells Negative Uncertain
    cervix, uterine squamous epithelial cells Strong Uncertain
    colon glandular cells Weak Uncertain
    duodenum glandular cells Weak Uncertain
    epididymis glandular cells Moderate Uncertain
    fallopian tube glandular cells Weak Uncertain
    gall bladder glandular cells Moderate Uncertain
    heart muscle myocytes Strong Uncertain
    hippocampus glial cells Moderate Uncertain
    hippocampus neuronal cells Moderate Uncertain
    kidney cells in glomeruli Moderate Uncertain
    kidney cells in tubules Moderate Uncertain
    lateral ventricle glial cells Moderate Uncertain
    lateral ventricle neuronal cells Moderate Uncertain
    liver bile duct cells Negative Uncertain
    liver hepatocytes Negative Uncertain
    lung macrophages Weak Uncertain
    lung pneumocytes Weak Uncertain
    lymph node germinal center cells Moderate Uncertain
    lymph node non-germinal center cells Negative Uncertain
    nasopharynx respiratory epithelial cells Negative Uncertain
    oral mucosa squamous epithelial cells Moderate Uncertain
    ovary ovarian stroma cells Negative Uncertain
    pancreas exocrine glandular cells Negative Uncertain
    pancreas islets of Langerhans Negative Uncertain
    parathyroid gland glandular cells Moderate Uncertain
    placenta decidual cells Negative Uncertain
    placenta trophoblastic cells Strong Uncertain
    prostate glandular cells Strong Uncertain
    rectum glandular cells Negative Uncertain
    salivary gland glandular cells Negative Uncertain
    seminal vesicle glandular cells Weak Uncertain
    skeletal muscle myocytes Negative Uncertain
    skin epidermal cells Strong Uncertain
    small intestine glandular cells Weak Uncertain
    smooth muscle smooth muscle cells Negative Uncertain
    spleen cells in red pulp Weak Uncertain
    spleen cells in white pulp Negative Uncertain
    stomach, lower glandular cells Weak Uncertain
    stomach, upper glandular cells Weak Uncertain
    testis cells in seminiferus ducts Moderate Uncertain
    testis Leydig cells Strong Uncertain
    thyroid gland glandular cells Moderate Uncertain
    tonsil germinal center cells Weak Uncertain
    tonsil non-germinal center cells Negative Uncertain
    tonsil squamous epithelial cells Strong Uncertain
    urinary bladder urothelial cells Moderate Uncertain
    uterus, post-menopause cells in endometrial stroma Strong Uncertain
    uterus, post-menopause glandular cells Weak Uncertain
    uterus, pre-menopause cells in endometrial stroma Strong Uncertain
    uterus, pre-menopause glandular cells Weak Uncertain
    vagina squamous epithelial cells Strong Uncertain
    vulva/anal skin epidermal cells Strong Uncertain
  • Gene Ontology

    GO ID GO term PubMed Category
    GO:0005922 connexon complex Component
    GO:0043292 contractile fiber Component
    GO:0005829 cytosol Component
    GO:0005769 early endosome Component
    GO:0005789 endoplasmic reticulum membrane Component
    GO:0005916 fascia adherens Component
    GO:0005921 gap junction Component
    GO:0005794 Golgi apparatus Component
    GO:0000139 Golgi membrane Component
    GO:0030660 Golgi-associated vesicle membrane Component
    GO:0005887 integral to plasma membrane 15709751 Component
    GO:0014704 intercalated disc Component
    GO:0014704 intercalated disc Component
    GO:0005764 lysosome Component
    GO:0045121 membrane raft Component
    GO:0005741 mitochondrial outer membrane Component
    GO:0005771 multivesicular body Component
    GO:0005886 plasma membrane Component
    GO:0005886 plasma membrane Component
    GO:0005243 gap junction channel activity Function
    GO:0015075 ion transmembrane transporter activity 1696265 Function
    GO:0030165 PDZ domain binding Function
    GO:0005515 protein binding 15709751 Function
    GO:0005102 receptor binding Function
    GO:0017124 SH3 domain binding Function
    GO:0004871 signal transducer activity 12761501 Function
    GO:0007512 adult heart development Process
    GO:0006915 apoptotic process Process
    GO:0015867 ATP transport Process
    GO:0048514 blood vessel morphogenesis Process
    GO:0007267 cell-cell signaling Process
    GO:0016044 cellular membrane organization Process
    GO:0002070 epithelial cell maturation Process
    GO:0016264 gap junction assembly 15709751 Process
    GO:0007507 heart development 7715640 Process
    GO:0001947 heart looping Process
    GO:0001701 in utero embryonic development Process
    GO:0034220 ion transmembrane transport 1696265 Process
    GO:0060174 limb bud formation Process
    GO:0006936 muscle contraction 7715640 Process
    GO:0008285 negative regulation of cell proliferation Process
    GO:0010629 negative regulation of gene expression Process
    GO:0001764 neuron migration Process
    GO:0048812 neuron projection morphogenesis Process
    GO:0010628 positive regulation of gene expression Process
    GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB cascade 12761501 Process
    GO:0045732 positive regulation of protein catabolic process Process
    GO:0045844 positive regulation of striated muscle tissue development Process
    GO:0051259 protein oligomerization Process
    GO:0051924 regulation of calcium ion transport Process
    GO:0008016 regulation of heart contraction Process
    GO:0043434 response to peptide hormone stimulus Process
    GO:0009268 response to pH Process
    GO:0007165 signal transduction 12761501 Process
    GO:0043403 skeletal muscle tissue regeneration Process
    GO:0006810 transport 1696265 Process
    GO:0010232 vascular transport Process
  1. Krupp M et al. (2012) RNA-Seq Atlas - a reference database for gene expression profiling in normal tissue by next-generation sequencing. Bioinformatics, 28, 1184-1185. doi:10.1093/bioinformatics/bts084