Details for gene: GJD2


This gene encodes a member of the connexin protein family. Connexins are gap junction proteins which are arranged in groups of 6 around a central pore to form a connexon, a component of the gap junction intercellular channel. The channels formed by this protein allow cationic molecule exchange between human beta cells and may function in the regulation of insulin secretion. [provided by RefSeq, Oct 2012]


Symbol
GJD2
Name
gap junction protein delta 2
Entrez ID
57369
Ensembl ID
ENSG00000159248    (more details)
KEGG ID
hsa:57369    (more details)
OMIM ID
607058
Uniprot ID
Q9UKL4  
GO ID
hsa:57369    (more details)
Chromosome
15
Strand
-1
Start
34751032
End
34754998
miRNA Interactions
hsa-miR-124-3p (RPM: 4110.4386) / hsa-miR-506-3p (RPM: 0.6452) / hsa-miR-4753-3p (RPM: 0.0312) / hsa-miR-1323 (RPM: 0.0072) / hsa-miR-129-5p (RPM: 135.1492) / hsa-miR-5006-3p (RPM: 0.4468) / hsa-miR-548as-3p (RPM: 0.0012) / hsa-miR-4786-3p (RPM: 0.0288) / hsa-miR-1289 (RPM: 0.0108) / hsa-miR-548o-3p (RPM: 3.2198) / hsa-miR-3198 (RPM: 0.0072) / hsa-miR-876-5p (RPM: 0.4744) / hsa-miR-432-5p (RPM: 29.044) / hsa-miR-4770 (RPM: 0.0012) / hsa-miR-143-3p (RPM: 93089.5152) / hsa-miR-101-5p (RPM: 15.2398) / hsa-miR-766-3p (RPM: 5.2956) / hsa-miR-4708-5p (RPM: 0.027) / hsa-miR-24-3p (RPM: 581.6226) / hsa-miR-4521 (RPM: 0.5154) / hsa-miR-3910 (RPM: 0.0044) / hsa-miR-671-5p (RPM: 10.1036) / hsa-miR-130b-5p (RPM: 60.0122) / hsa-miR-508-5p (RPM: 0.6) / hsa-miR-20b-3p (RPM: 0.5872) / hsa-miR-382-3p (RPM: 5.0104) / hsa-miR-212-5p (RPM: 3.5846) / hsa-miR-155-5p (RPM: 106.9134) / hsa-miR-33b-3p (RPM: 1.4658) / hsa-miR-34a-3p (RPM: 0.9902) / hsa-miR-664a-5p (RPM: 11.0862) / hsa-miR-6873-3p (RPM: 0.12) / hsa-miR-8485 (RPM: 0.0894) / hsa-miR-7110-3p (RPM: 0.0382) / hsa-miR-6720-5p (RPM: 0.0746) / hsa-miR-6849-3p (RPM: 0.0148) / hsa-miR-6817-3p (RPM: 0.0036) / hsa-miR-6514-5p (RPM: 0.4794) / hsa-miR-6088 (RPM: 0.0062) / hsa-miR-3691-3p (RPM: 0.0432) / hsa-miR-6895-3p (RPM: 0.15) /
Involved Diseases
myopia /
Involved Pathways
Gap junction / Gap junction trafficking and regulation / Gap junction trafficking / Gap junction assembly / Membrane Trafficking / Vesicle-mediated transport / Neuronal System / Electric Transmission Across Gap Junctions / Transmission across Electrical Synapses /
Sequence
GCGGATCCCCGAGCCCAGCATTCGGCTCCGCGCGCTCGGCCCTGGCCTCGCAGGCTGCCGCGCCGGAGCGCCAGGTGCCCGCTGAAGTAGCAGGAACAGAGCCGGTGTTCGGACCCTCCCCTGGCCCCCAACCTGCGGCGGAGAGCGGCGCTGAGACTTCTCCTGGGCGGGCGAGCGCTGGAGGACCTGCAGGCTGCCACCCCGCCCCGCCCCTCGTCCCGGCGTCCGCGGGATCCAGACCCGAACCCCGGACGGCGCCCGAGGTTCGTGCCCTCTCTCTAGACCGCGCCAACTGCCCCATCGGTCGGGACGCGCTTGGATTTCTTTCCCCATTTCTTCTCTTTTAAGTACAATAAAAGGAAAGGGGGATTCGAGGATTTTTTAAAAAATTGCTTCTTTAATTGGGAGGCAATTCACTCCCATTCTGGAAGTGCGGCCCGGGGAGGGGCCAGGAGCGGGAACGTGCCCGGTGCTGCCCAGTCTTTGTCTGCTGCCTCCGGATGCACAGCGATGGGGGAATGGACCATCTTGGAGAGGCTGCTAGAAGCCGCGGTGCAGCAGCACTCCACTATGATCGGGAGGTAAGGGCGCCAAGCCGGCGGTCAGGGGGCCCCGTCGGGCGGCCCCCGGGAGTCCCTTCTCACACCTGGACTGAGTCTCCCGCTCCAATCCCCAGTCCGTCCTCTGCCTCCTCCCCATCGTCCTAGGTCAAGGCTCCGGTGTTCCCGGCGATGAGGGATTACCCGACGCCCCGCGATGCCCCCCTCCTCTAGCTACTCCTAACCAGCTGCCCATCCCTTCCCCATCAAGCACCACTGGGGCTTCACTCTTCCCACATCAGAAAAGGAGCCGCTGGCTCAGTCTTGGTCCCTCCACTCTCCAGAGTCAGAGCCAATCTCCATTTGGTTCCCTAAATAGAATCTACAAAGAAGGCAGGATTGCATTTGGACAGAAAAGGGCAAATGGGGAGATGGATTTGCTCTTCAGAGCAGATGCCTCTTTTCTCAACAAATAATTACTAAACCAAACTTATTTGGCGGTGTAAACTTACCGAGCCTACACACCCAATTGCCATTTTTGGGTCTGTATCTATATCTATGTCTCTATCTACCTAGCTTTATATATATATGAGTTCAATATATATGAATATATATTCATAGCCATCTGCTTATATAAAGCATTAAATTTAATATTCATGTTGAGAATAAACTAAATATACACATGGAGTAGTTATTTACACACCCTGTGTGTAGACCTCGAAGCATGCACCATCTGTAAAGGTATTCTGTGTGCATTTGCCATATCCAGAGTGAAGGTGTGTTTTGTGTTTCTATACATTCTATATAGAGAGATGAAATCTATCTGTTGCAAGTAGACTATGTCCAGTGTATGGAGATGTGTGTACCTGGGATCTCTATAATATGAAATATTCCCAGCCTACCAGCACTCAGCAGAAAAGGAAGAGACAAAAAGCTTTCCCAGATTCCTAGTTCAGTACCAGCCCGGGATGGACAGCTCCCCAGTCAAAAGACTGGTAAACACCAGCAAAGGGAAGGGAGGAGCAGGGGTTTCCTGTCAGTGACGCAGCCCGTGAGAACCTCTCTCCCTCCCTCTTCCTCCGTTCAGGATCCTGTTGACTGTGGTGGTGATCTTCCGGATCCTCATTGTGGCCATTGTGGGGGAGACGGTGTACGATGATGAGCAGACCATGTTTGTGTGCAACACCCTGCAGCCCGGCTGTAACCAGGCCTGCTATGACCGCGCCTTCCCCATCTCCCACATACGTTACTGGGTCTTCCAGATCATAATGGTGTGTACCCCCAGTCTTTGCTTCATCACCTACTCTGTGCACCAGTCCGCCAAGCAGCGAGAACGCCGCTACTCTACAGTCTTCCTAGCCCTGGACAGAGACCCCCCTGAGTCCATAGGAGGTCCTGGAGGAACTGGGGGTGGGGGCAGTGGTGGGGGCAAACGAGAAGATAAGAAGTTGCAAAATGCTATTGTGAATGGGGTGCTGCAGAACACAGAGAACACCAGTAAGGAGACAGAGCCAGATTGTTTAGAGGTTAAGGAGCTGACTCCACACCCATCAGGTCTACGCACTGCATCAAAATCCAAGCTCAGAAGGCAGGAAGGCATCTCCCGCTTCTACATTATCCAAGTGGTGTTCCGAAATGCCCTGGAAATTGGGTTCCTGGTTGGCCAATATTTTCTCTATGGCTTTAGTGTCCCAGGGTTGTATGAGTGTAACCGCTACCCCTGCATCAAGGAGGTGGAATGTTATGTGTCCCGGCCAACTGAGAAGACTGTCTTTCTAGTGTTCATGTTTGCTGTAAGTGGCATCTGTGTTGTGCTCAACCTGGCTGAACTCAACCACCTGGGATGGCGCAAGATCAAGCTGGCTGTGCGAGGGGCTCAGGCCAAGAGAAAGTCAATCTATGAGATTCGTAACAAGGACCTGCCAAGGGTCAGTGTTCCCAATTTTGGCAGGACTCAGTCCAGTGACTCTGCCTATGTGTGAGAGGGCAGGTTTCATGAAGGTCTGGGGGATGGCAAGGAGCCCCAAGGCAGATGACTGCTCAGACGTGGCTGTATCCACCCTCATTTATGTGACCCTCACCATTAAGATGTAGGATAAGACTGGATAAAAGAAGATTTTGCACCAATGGGAAAGGAGGAAAAGTGGACCCATTTTCACATATCACCTAATTGGTTCTACAGAGACGATTGGGTAGAGTGATGAAATGGATCAATTAGACTTCTTTGGTCCCTTTCTGTTTATGGCCTAGCCTGATCCTGATAACACTGAACTTGCACAGCTACCAAGTAGGACTTAGCCCTGCTGAGCTCTTTATTCTGGTGAATGGTGTGAGTTGAGTACTTCATTGATATAAAATTTGTGACCTATCTCAACCCATCCCTTTATCCTGAGCCATGGGACAAACATCCTTGAGGCACTCTTCATGTATCTCCCCCACCAGCATGCCCCTTTCCCTCAATCCAAAATAGCATGCCAGCTTTTTTTTTTTTTTTTTTTTTTTTTCCAGAATCTGGCCTTACATTAGACCTAATATGTTTTATTTGCAAACTTAGAGGGAATTACATGGGGTGCTTATTGGAGAACGGCCATGGCAGAGGTTTTCATTAGAGCCCCATCTGACTGGCCCTTAGTCGTGATGAAAACCTTAGGAATGTCTCAATATTTCCAGTTTTCTAACTCAAACTGCACTGGTGCTGTTTACTAGGGATGGGGGATGGGTGGGAGGGAGGGAATTGCAATATGCAACTACAACACTTTTGTGAGATTGTTGTTGCACAGTTAGGCACACGGTTACGAGCTTCAGGATATTTCTGCCTTCCAGCTTGTGGACTTTGGTTAACATTAAAAAGATTTTTTTTGGCTAATATCAAGAGTGTCTAGCTGAGCCACAGCATTTGTAACTGGTGTATCTCACTCATTTTCTTACATAGTTTTGTTGTGCAACACAGCTGCACGGTCATTTTGCCATGATTTGAATTTACCTGTGTGCTTACACCAGAGACCTTAATCATCCCATGTCAATCCTGATTTATTATTTTTTCAGTTACTCTTTGAAACACACACACATATACAGACACACATACAAAATTACTGGCTTAAAAGACCTGCAACTAAACACTATTGGCTAACGTGTGTTTACGGTGACTTATTTGAGACATATACCAAAGGTTCAAAAACCTATTGCATTGGACTGTCAATATGTTTTCTTCTTTTTGCTCTTATTTATTTAAGTGCCATACTGTACCTTTCATATCCACTGTGTATTTAGTTAAAATATTGGCCAAGAGAAACATCTGGGTAATGTGCTTTTATGAAGCCCTTTGTTCCCTTTGAATTATCATTATCATTTTTGATTTAGATATGGACATGGTGTAACACACAACTAAGGATTTGTTTAAAATAAAGTTCTTGCCTTTTTTTGTAAAA

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