| Gene ID | 2697 |
| Symbol | GJA1 |
| Synonymous | AVSD3|CMDR|CX43|GJAL|HLHS1|HSS|ODDD |
| Full name | gap junction protein, alpha 1, 43kDa |
| Gene description | connexin 43|connexin-43|gap junction 43 kDa heart protein|gap junction alpha-1 protein |
| Cytoband | 6q22.31 |
| Gene type | protein-coding |
| Synonymous | MIM:121014; HGNC:HGNC:4274; Ensembl:ENSG00000152661; HPRD:00414; Vega:OTTHUMG00000015479 |
Pathways and Diseases | Detail |
|---|---|
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 |
Sequence Information | |
|---|---|
Nucleotide Sequence | >2697 : length: 3169 CTTCTAGCCCCTCCTCCCAGTTGAGTCAGTGGCTTGAAACTTTTAAAAGCTCTGTGCTCCAAGTTACAAAAAAGCTTTTACGAGGTATCAGCACTTTTCTTTCATTAGGGGGAAGGCGTG AGGAAAGTACCAAACAGCAGCGGAGTTTTAAACTTTAAATAGACAGGTCTGAGTGCCTGAACTTGCCTTTTCATTTTACTTCATCCTCCAAGGAGTTCAATCACTTGGCGTGACTTCACT ACTTTTAAGCAAAAGAGTGGTGCCCAGGCAACATGGGTGACTGGAGCGCCTTAGGCAAACTCCTTGACAAGGTTCAAGCCTACTCAACTGCTGGAGGGAAGGTGTGGCTGTCAGTACTTT TCATTTTCCGAATCCTGCTGCTGGGGACAGCGGTTGAGTCAGCCTGGGGAGATGAGCAGTCTGCCTTTCGTTGTAACACTCAGCAACCTGGTTGTGAAAATGTCTGCTATGACAAGTCTT TCCCAATCTCTCATGTGCGCTTCTGGGTCCTGCAGATCATATTTGTGTCTGTACCCACACTCTTGTACCTGGCTCATGTGTTCTATGTGATGCGAAAGGAAGAGAAACTGAACAAGAAAG AGGAAGAACTCAAGGTTGCCCAAACTGATGGTGTCAATGTGGACATGCACTTGAAGCAGATTGAGATAAAGAAGTTCAAGTACGGTATTGAAGAGCATGGTAAGGTGAAAATGCGAGGGG GGTTGCTGCGAACCTACATCATCAGTATCCTCTTCAAGTCTATCTTTGAGGTGGCCTTCTTGCTGATCCAGTGGTACATCTATGGATTCAGCTTGAGTGCTGTTTACACTTGCAAAAGAG ATCCCTGCCCACATCAGGTGGACTGTTTCCTCTCTCGCCCCACGGAGAAAACCATCTTCATCATCTTCATGCTGGTGGTGTCCTTGGTGTCCCTGGCCTTGAATATCATTGAACTCTTCT ATGTTTTCTTCAAGGGCGTTAAGGATCGGGTTAAGGGAAAGAGCGACCCTTACCATGCGACCAGTGGTGCGCTGAGCCCTGCCAAAGACTGTGGGTCTCAAAAATATGCTTATTTCAATG GCTGCTCCTCACCAACCGCTCCCCTCTCGCCTATGTCTCCTCCTGGGTACAAGCTGGTTACTGGCGACAGAAACAATTCTTCTTGCCGCAATTACAACAAGCAAGCAAGTGAGCAAAACT GGGCTAATTACAGTGCAGAACAAAATCGAATGGGGCAGGCGGGAAGCACCATCTCTAACTCCCATGCACAGCCTTTTGATTTCCCCGATGATAACCAGAATTCTAAAAAACTAGCTGCTG GACATGAATTACAGCCACTAGCCATTGTGGACCAGCGACCTTCAAGCAGAGCCAGCAGTCGTGCCAGCAGCAGACCTCGGCCTGATGACCTGGAGATCTAGATACAGGCTTGAAAGCATC AAGATTCCACTCAATTGTGGAGAAGAAAAAAGGTGCTGTAGAAAGTGCACCAGGTGTTAATTTTGATCCGGTGGAGGTGGTACTCAACAGCCTTATTCATGAGGCTTAGAAAACACAAAG ACATTAGAATACCTAGGTTCACTGGGGGTGTATGGGGTAGATGGGTGGAGAGGGAGGGGATAAGAGAGGTGCATGTTGGTATTTAAAGTAGTGGATTCAAAGAACTTAGATTATAAATAA GAGTTCCATTAGGTGATACATAGATAAGGGCTTTTTCTCCCCGCAAACACCCCTAAGAATGGTTCTGTGTATGTGAATGAGCGGGTGGTAATTGTGGCTAAATATTTTTGTTTTACCAAG AAACTGAAATAATTCTGGCCAGGAATAAATACTTCCTGAACATCTTAGGTCTTTTCAACAAGAAAAAGACAGAGGATTGTCCTTAAGTCCCTGCTAAAACATTCCATTGTTAAAATTTGC ACTTTGAAGGTAAGCTTTCTAGGCCTGACCCTCCAGGTGTCAATGGACTTGTGCTACTATATTTTTTTATTCTTGGTATCAGTTTAAAATTCAGACAAGGCCCACAGAATAAGATTTTCC ATGCATTTGCAAATACGTATATTCTTTTTCCATCCACTTGCACAATATCATTACCATCACTTTTTCATCATTCCTCAGCTACTACTCACATTCATTTAATGGTTTCTGTAAACATTTTTA AGACAGTTGGGATGTCACTTAACATTTTTTTTTTGAGCTAAAGTCAGGGAATCAAGCCATGCTTAATATTTAACAATCACTTATATGTGTGTCGAAGAGTTTGTTTTGTTTGTCATGTAT TGGTACAAGCAGATACAGTATAAACTCACAAACACAGATTTGAAAATAATGCACATATGGTGTTCAAATTTGAACCTTTCTCATGGATTTTTGTGGTGTGGGCCAATATGGTGTTTACAT TATATAATTCCTGCTGTGGCAAGTAAAGCACACTTTTTTTTTCTCCTAAAATGTTTTTCCCTGTGTATCCTATTATGGATACTGGTTTTGTTAATTATGATTCTTTATTTTCTCTCCTTT TTTTAGGATATAGCAGTAATGCTATTACTGAAATGAATTTCCTTTTTCTGAAATGTAATCATTGATGCTTGAATGATAGAATTTTAGTACTGTAAACAGGCTTTAGTCATTAATGTGAGA GACTTAGAAAAAATGCTTAGAGTGGACTATTAAATGTGCCTAAATGAATTTTGCAGTAACTGGTATTCTTGGGTTTTCCTACTTAATACACAGTAATTCAGAACTTGTATTCTATTATGA GTTTAGCAGTCTTTTGGAGTGACCAGCAACTTTGATGTTTGCACTAAGATTTTATTTGGAATGCAAGAGAGGTTGAAAGAGGATTCAGTAGTACACATACAACTAATTTATTTGAACTAT ATGTTGAAGACATCTACCAGTTTCTCCAAATGCCTTTTTTAAAACTCATCACAGAAGATTGGTGAAAATGCTGAGTATGACACTTTTCTTCTTGCATGCATGTCAGCTACATAAACAGTT TTGTACAATGAAAATTACTAATTTGTTTGACATTCCATGTTAAACTACGGTCATGTTCAGCTTCATTGCATGTAATGTAGACCTAGTCCATCAGATCATGTGTTCTGGAGAGTGTTCTTT ATTCAATAAAGTTTTAATTTAGTATAAACATAGCTTCTATATTCCGTGT |
Protein Sequence | >2697 : length: 382 MGDWSALGKLLDKVQAYSTAGGKVWLSVLFIFRILLLGTAVESAWGDEQSAFRCNTQQPGCENVCYDKSFPISHVRFWVLQIIFVSVPTLLYLAHVFYVMRKEEKLNKKEEELKVAQTDG VNVDMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIISILFKSIFEVAFLLIQWYIYGFSLSAVYTCKRDPCPHQVDCFLSRPTEKTIFIIFMLVVSLVSLALNIIELFYVFFKGVKDRV KGKSDPYHATSGALSPAKDCGSQKYAYFNGCSSPTAPLSPMSPPGYKLVTGDRNNSSCRNYNKQASEQNWANYSAEQNRMGQAGSTISNSHAQPFDFPDDNQNSKKLAAGHELQPLAIVD QRPSSRASSRASSRPRPDDLEI |