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Entrez Gene ID
- 2697 (Go to NCBI)
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Symbol
- GJA1
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Synonyms
- AVSD3, CX43, DFNB38, GJAL, HLHS1, HSS, ODDD
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Description
- gap junction protein, alpha 1, 43kDa
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Type of Gene
- protein-coding
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Chromosome
- 6
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Location
- 6q21-q23.2
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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
- 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