| General information | Literature | Expression | Regulation | Variant | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 2697 |
Name | GJA1 |
Synonym | AVSD3|CMDR|CX43|GJAL|HLHS1|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 | 6q22.31 |
Gene Type | protein-coding |
|
TSG scores |
Description |
| TUSON ranking | 7708 |
TUSON P-value | 1 |
|
Pathways and Diseases |
|
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 |
|
External Links |
|
Links to Entrez Gene | 2697 |
Links to all GeneRIF Items | 2697 |
Links to iHOP | 2697 |
|
Sequence Information |
The sequences provided here are only the longest representative sequences, not covering all the isoforms. |
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 |