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| General information | Expression | Regulation | Mutation | Interaction |
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Basic Information |
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Gene ID | 2697 |
Name | GJA1 |
Synonym | AVSD3|CX43|DFNB38|GJAL|HSS|ODDD;gap junction protein, alpha 1, 43kDa;GJA1;gap junction protein, alpha 1, 43kDa |
Definition | connexin 43|connexin-43|gap junction 43 kDa heart protein|gap junction alpha-1 protein |
Position | 6q21-q23.2 |
Gene Type | protein-coding |
Source | Count: 1; Generif |
Literature support | Count: 1 PubMed records as below. |
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Evidence Status |
Description |
potential | "Cx43 plays a role as a tumor suppressor, however, no definite correlation was found between Cx43 and cell migration and invasion." |
| More detail of all 1 literatures about GJA1 | |
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Pathways and Diseases |
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Pathway | N-cadherin signaling events;PID Curated;200180 |
Pathway | Arrhythmogenic right ventricular cardiomyopathy (ARVC);KEGG PATHWAY;hsa05412 |
Pathway | Gap junction;KEGG PATHWAY;hsa04540 |
Pathway | inactivation of gsk3 by akt causes accumulation of b-catenin in alveolar macrophages;PID BioCarta;100152 |
Pathway | Gap junction assembly;PID Reactome;500018 |
Pathway | Transport of connexins along the secretory pathway;PID Reactome;500019 |
Pathway | Membrane Trafficking;Reactome;REACT:11123 |
Pathway | AP-1 transcription factor network;PID Curated;200118 |
Pathway | Validated transcriptional targets of AP1 family members Fra1 and Fra2;PID Curated;200044 |
Pathway | Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane;PID Reactome;500022 |
Pathway | c-src mediated regulation of Cx43 function and closure of gap junctions;PID Reactome;500026 |
Pathway | Oligomerization of connexins into connexons;PID Reactome;500020 |
Disease | Palmoplantar keratosis;FunDO |
Disease | Heart failure;FunDO |
Disease | Oculodentodigital dysplasia;OMIM |
Disease | Diabetes mellitus;FunDO |
Disease | Oculodentodigital dysplasia, autosomal recessive;OMIM |
Disease | Syndactyly, type III;OMIM |
Disease | Atrioventricular septal defect;OMIM |
Disease | Hallermann-Streiff syndrome;OMIM |
Disease | Alopecia;FunDO |
Disease | Hypoplastic left heart syndrome;OMIM |
Disease | protein quantitative trait loci;GAD |
Disease | Cancer;FunDO |
Disease | Dental plaque;FunDO |
Disease | Resting heart rate;NHGRI |
Disease | non-syndromic deafness;GAD |
Disease | Autistic disorder;FunDO |
Disease | Protein quantitative trait loci;NHGRI |
Disease | Vascular disease;FunDO |
Disease | Glaucoma;FunDO |
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External Links |
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Links to Entrez Gene | 2697 |
Links to all GeneRIF Items | 2697 |
Links to iHOP | 2697 |
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Sequence Information |
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Nucleotide Sequence |
>2697 : length: 1149 atgggtgactggagcgccttaggcaaactccttgacaaggttcaagcctactcaactgct ggagggaaggtgtggctgtcagtacttttcattttccgaatcctgctgctggggacagcg gttgagtcagcctggggagatgagcagtctgcctttcgttgtaacactcagcaacctggt tgtgaaaatgtctgctatgacaagtctttcccaatctctcatgtgcgcttctgggtcctg cagatcatatttgtgtctgtacccacactcttgtacctggctcatgtgttctatgtgatg cgaaaggaagagaaactgaacaagaaagaggaagaactcaaggttgcccaaactgatggt gtcaatgtggacatgcacttgaagcagattgagataaagaagttcaagtacggtattgaa gagcatggtaaggtgaaaatgcgaggggggttgctgcgaacctacatcatcagtatcctc ttcaagtctatctttgaggtggccttcttgctgatccagtggtacatctatggattcagc ttgagtgctgtttacacttgcaaaagagatccctgcccacatcaggtggactgtttcctc tctcgccccacggagaaaaccatcttcatcatcttcatgctggtggtgtccttggtgtcc ctggccttgaatatcattgaactcttctatgttttcttcaagggcgttaaggatcgggtt aagggaaagagcgacccttaccatgcgaccagtggtgcgctgagccctgccaaagactgt gggtctcaaaaatatgcttatttcaatggctgctcctcaccaaccgctcccctctcgcct atgtctcctcctgggtacaagctggttactggcgacagaaacaattcttcttgccgcaat tacaacaagcaagcaagtgagcaaaactgggctaattacagtgcagaacaaaatcgaatg gggcaggcgggaagcaccatctctaactcccatgcacagccttttgatttccccgatgat aaccagaattctaaaaaactagctgctggacatgaattacagccactagccattgtggac cagcgaccttcaagcagagccagcagtcgtgccagcagcagacctcggcctgatgacctg gagatctag |
Protein Sequence |
>2697 : length: 382 MGDWSALGKLLDKVQAYSTAGGKVWLSVLFIFRILLLGTAVESAWGDEQSAFRCNTQQPG CENVCYDKSFPISHVRFWVLQIIFVSVPTLLYLAHVFYVMRKEEKLNKKEEELKVAQTDG VNVDMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIISILFKSIFEVAFLLIQWYIYGFS LSAVYTCKRDPCPHQVDCFLSRPTEKTIFIIFMLVVSLVSLALNIIELFYVFFKGVKDRV KGKSDPYHATSGALSPAKDCGSQKYAYFNGCSSPTAPLSPMSPPGYKLVTGDRNNSSCRN YNKQASEQNWANYSAEQNRMGQAGSTISNSHAQPFDFPDDNQNSKKLAAGHELQPLAIVD QRPSSRASSRASSRPRPDDLEI |