| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 6337 |
Name | SCNN1A |
Synonym | BESC2|ENaCa|ENaCalpha|SCNEA|SCNN1;sodium channel, non voltage gated 1 alpha subunit;SCNN1A;sodium channel, non voltage gated 1 alpha subunit |
Definition | alpha ENaC-2|alpha-ENaC|alpha-NaCH|amiloride-sensitive epithelial sodium channel alpha subunit|amiloride-sensitive sodium channel subunit alpha|amiloride-sensitive sodium channel subunit alpha 2|epithelial Na(+) channel subunit alpha|nasal epithelial sodi |
Position | 12p13 |
Gene Type | protein-coding |
Pathways and Diseases | |
Pathway | Taste transduction;KEGG PATHWAY;hsa04742 |
Pathway | Aldosterone-regulated sodium reabsorption;KEGG PATHWAY;hsa04960 |
Disease | Kidney diseases;KEGG DISEASE |
Disease | Hyperkalemic distal renal tubular acidosis (RTA type 4);KEGG DISEASE;H00243 |
Disease | Bronchiectasis with or without elevated sweat chloride 2;OMIM |
Disease | CARDIOVASCULAR;GAD |
Disease | Respiratory failure;FunDO |
Disease | blood pressure;GAD |
Disease | Pseudohypoaldosteronism, type I;OMIM |
Disease | Kidney disease;FunDO |
Disease | Urinary system diseases;KEGG DISEASE |
External Links | |
Links to Entrez Gene | 6337 |
Links to all GeneRIF Items | 6337 |
Links to iHOP | 6337 |
Sequence Information | |
Nucleotide Sequence | >6337 : length: 3497 AAACAGAAGGCAGATAGAGAGGGAGTGAGAGGCAGGAGCTGAGACACAGATCCTGGAGGA AGAAGACCAAAGGAAGGGGGCAGAGACAGAAAGGGAGGTGCTAGGACAAAACTCGAAAGG TGGCCCTATCAGGGAAGCAGAGGAGAGGCCGTTCTAGGGAAGCCCAGCTCCGGCACTTTT GGCCCCAACTCCCGCAGGTCTGCTGGCTCCAGGAAAGGTGGAGGAGGGAGGGAGGAGTGG GAGAATGTGGGCGCAGGGTGGGACATGGGCATGGCCAGGGGCAGCCTCACTCGGGTTCCA GGGGTGATGGGAGAGGGCACTCAGGGCCCAGAGCTCAGCCTTGACCCTGACCCTTGCTCT CCCCAATCCACTCCGGGGCTCATGAAGGGGAACAAGCTGGAGGAGCAGGACCCTAGACCT CTGCAGCCCATACCAGGTCTCATGGAGGGGAACAAGCTGGAGGAGCAGGACTCTAGCCCT CCACAGTCCACTCCAGGGCTCATGAAGGGGAACAAGCGTGAGGAGCAGGGGCTGGGCCCC GAACCTGCGGCGCCCCAGCAGCCCACGGCGGAGGAGGAGGCCCTGATCGAGTTCCACCGC TCCTACCGAGAGCTCTTCGAGTTCTTCTGCAACAACACCACCATCCACGGCGCCATCCGC CTGGTGTGCTCCCAGCACAACCGCATGAAGACGGCCTTCTGGGCAGTGCTGTGGCTCTGC ACCTTTGGCATGATGTACTGGCAATTCGGCCTGCTTTTCGGAGAGTACTTCAGCTACCCC GTCAGCCTCAACATCAACCTCAACTCGGACAAGCTCGTCTTCCCCGCAGTGACCATCTGC ACCCTCAATCCCTACAGGTACCCGGAAATTAAAGAGGAGCTGGAGGAGCTGGACCGCATC ACAGAGCAGACGCTCTTTGACCTGTACAAATACAGCTCCTTCACCACTCTCGTGGCCGGC TCCCGCAGCCGTCGCGACCTGCGGGGGACTCTGCCGCACCCCTTGCAGCGCCTGAGGGTC CCGCCCCCGCCTCACGGGGCCCGTCGAGCCCGTAGCGTGGCCTCCAGCTTGCGGGACAAC AACCCCCAGGTGGACTGGAAGGACTGGAAGATCGGCTTCCAGCTGTGCAACCAGAACAAA TCGGACTGCTTCTACCAGACATACTCATCAGGGGTGGATGCGGTGAGGGAGTGGTACCGC TTCCACTACATCAACATCCTGTCGAGGCTGCCAGAGACTCTGCCATCCCTGGAGGAGGAC ACGCTGGGCAACTTCATCTTCGCCTGCCGCTTCAACCAGGTCTCCTGCAACCAGGCGAAT TACTCTCACTTCCACCACCCGATGTATGGAAACTGCTATACTTTCAATGACAAGAACAAC TCCAACCTCTGGATGTCTTCCATGCCTGGAATCAACAACGGTCTGTCCCTGATGCTGCGC GCAGAGCAGAATGACTTCATTCCCCTGCTGTCCACAGTGACTGGGGCCCGGGTAATGGTG CACGGGCAGGATGAACCTGCCTTTATGGATGATGGTGGCTTTAACTTGCGGCCTGGCGTG GAGACCTCCATCAGCATGAGGAAGGAAACCCTGGACAGACTTGGGGGCGATTATGGCGAC TGCACCAAGAATGGCAGTGATGTTCCTGTTGAGAACCTTTACCCTTCAAAGTACACACAG CAGGTGTGTATTCACTCCTGCTTCCAGGAGAGCATGATCAAGGAGTGTGGCTGTGCCTAC ATCTTCTATCCGCGGCCCCAGAACGTGGAGTACTGTGACTACAGAAAGCACAGTTCCTGG GGGTACTGCTACTATAAGCTCCAGGTTGACTTCTCCTCAGACCACCTGGGCTGTTTCACC AAGTGCCGGAAGCCATGCAGCGTGACCAGCTACCAGCTCTCTGCTGGTTACTCACGATGG CCCTCGGTGACATCCCAGGAATGGGTCTTCCAGATGCTATCGCGACAGAACAATTACACC GTCAACAACAAGAGAAATGGAGTGGCCAAAGTCAACATCTTCTTCAAGGAGCTGAACTAC AAAACCAATTCTGAGTCTCCCTCTGTCACGATGGTCACCCTCCTGTCCAACCTGGGCAGC CAGTGGAGCCTGTGGTTCGGCTCCTCGGTGTTGTCTGTGGTGGAGATGGCTGAGCTCGTC TTTGACCTGCTGGTCATCATGTTCCTCATGCTGCTCCGAAGGTTCCGAAGCCGATACTGG TCTCCAGGCCGAGGGGGCAGGGGTGCTCAGGAGGTAGCCTCCACCCTGGCATCCTCCCCT CCTTCCCACTTCTGCCCCCACCCCATGTCTCTGTCCTTGTCCCAGCCAGGCCCTGCTCCC TCTCCAGCCTTGACAGCCCCTCCCCCTGCCTATGCCACCCTGGGCCCCCGCCCATCTCCA GGGGGCTCTGCAGGGGCCAGTTCCTCCACCTGTCCTCTGGGGGGGCCCTGAGAGGGAAGG AGAGGTTTCTCACACCAAGGCAGATGCTCCTCTGGTGGGAGGGTGCTGGCCCTGGCAAGA TTGAAGGATGTGCAGGGCTTCCTCTCAGAGCCGCCCAAACTGCCGTTGATGTGTGGAGGG GAAGCAAGATGGGTAAGGGCTCAGGAAGTTGCTCCAAGAACAGTAGCTGATGAAGCTGCC CAGAAGTGCCTTGGCTCCAGCCCTGTACCCCTTGGTACTGCCTCTGAACACTCTGGTTTC CCCACCCAACTGCGGCTAAGTCTCTTTTTCCCTTGGATCAGCCAAGCGAAACTTGGAGCT TTGACAAGGAACTTTCCTAAGAAACCGCTGATAACCAGGACAAAACACAACCAAGGGTAC ACGCAGGCATGCACGGGTTTCCTGCCCAGCGACGGCTTAAGCCAGCCCCCGACTGGCCTG GCCACACTGCTCTCCAGTAGCACAGATGTCTGCTCCTCCTCTTGAACTTGGGTGGGAAAC CCCACCCAAAAGCCCCCTTTGTTACTTAGGCAATTCCCCTTCCCTGACTCCCGAGGGCTA GGGCTAGAGCAGACCCGGGTAAGTAAAGGCAGACCCAGGGCTCCTCTAGCCTCATACCCG TGCCCTCACAGAGCCATGCCCCGGCACCTCTGCCCTGTGTCTTTCATACCTCTACATGTC TGCTTGAGATATTTCCTCAGCCTGAAAGTTTCCCCAACCATCTGCCAGAGAACTCCTATG CATCCCTTAGAACCCTGCTCAGACACCATTACTTTTGTGAACGCTTCTGCCACATCTTGT CTTCCCCAAAATTGATCACTCCGCCTTCTCCTGGGCTCCCGTAGCACACTATAACATCTG CTGGAGTGTTGCTGTTGCACCATACTTTCTTGTACATTTGTGTCTCCCTTCCCAACTAGA CTGTAAGTGCCTTGCGGTCAGGGACTGAATCTTGCCCGTTTATGTATGCTCCATGTCTAG CCCATCATCCTGCTTGGAGCAAGTAGGCAGGAGCTCAATAAATGTTTGTTGCATGAAGGA AAAAAAAAAAAAAAAAA |
Protein Sequence | >6337 : length: 728 MGMARGSLTRVPGVMGEGTQGPELSLDPDPCSPQSTPGLMKGNKLEEQDPRPLQPIPGLM EGNKLEEQDSSPPQSTPGLMKGNKREEQGLGPEPAAPQQPTAEEEALIEFHRSYRELFEF FCNNTTIHGAIRLVCSQHNRMKTAFWAVLWLCTFGMMYWQFGLLFGEYFSYPVSLNINLN SDKLVFPAVTICTLNPYRYPEIKEELEELDRITEQTLFDLYKYSSFTTLVAGSRSRRDLR GTLPHPLQRLRVPPPPHGARRARSVASSLRDNNPQVDWKDWKIGFQLCNQNKSDCFYQTY SSGVDAVREWYRFHYINILSRLPETLPSLEEDTLGNFIFACRFNQVSCNQANYSHFHHPM YGNCYTFNDKNNSNLWMSSMPGINNGLSLMLRAEQNDFIPLLSTVTGARVMVHGQDEPAF MDDGGFNLRPGVETSISMRKETLDRLGGDYGDCTKNGSDVPVENLYPSKYTQQVCIHSCF QESMIKECGCAYIFYPRPQNVEYCDYRKHSSWGYCYYKLQVDFSSDHLGCFTKCRKPCSV TSYQLSAGYSRWPSVTSQEWVFQMLSRQNNYTVNNKRNGVAKVNIFFKELNYKTNSESPS VTMVTLLSNLGSQWSLWFGSSVLSVVEMAELVFDLLVIMFLMLLRRFRSRYWSPGRGGRG AQEVASTLASSPPSHFCPHPMSLSLSQPGPAPSPALTAPPPAYATLGPRPSPGGSAGASS STCPLGGP |