| Gene ID | 6833 |
| Symbol | ABCC8 |
| Synonymous | ABC36|HHF1|HI|HRINS|MRP8|PHHI|SUR|SUR1|SUR1delta2|TNDM2 |
| Full name | ATP-binding cassette, sub-family C (CFTR/MRP), member 8 |
| Gene description | ATP-binding cassette sub-family C member 8|ATP-binding cassette transporter sub-family C member 8|sulfonylurea receptor (hyperinsulinemia)|sulfonylurea receptor 1 |
| Cytoband | 11p15.1 |
| Gene type | protein-coding |
| Synonymous | MIM:600509; HGNC:HGNC:59; Ensembl:ENSG00000006071; HPRD:02741; Vega:OTTHUMG00000166316 |
Pathways and Diseases | Detail |
|---|---|
Pathway | Integration of energy metabolism;Reactome;REACT:1505 |
Pathway | Diabetes pathways;Reactome;REACT:15380 |
Pathway | Regulation of Insulin Secretion;PID Reactome;500134 |
Pathway | FOXA2 and FOXA3 transcription factor networks;PID Curated;200073 |
Pathway | Type II diabetes mellitus;KEGG PATHWAY;hsa04930 |
Pathway | ABC transporters;KEGG PATHWAY;hsa02010 |
Disease | Diabetes mellitus, permanent neonatal;OMIM |
Disease | Hypoglycemia of infancy, leucine-sensitive;OMIM |
Disease | diabetes, type 2;GAD |
Disease | high insulin concentrations in non-diabetic Mexican Ameri;GAD |
Disease | diabetes, gestational;GAD |
Disease | PHARMACOGENOMIC;GAD |
Disease | Hyperinsulinemic hypoglycemia, familial, 1;OMIM |
Disease | METABOLIC;GAD |
Disease | Diabetes mellitus, transient neonatal 2;OMIM |
Disease | Diabetes mellitus, noninsulin-dependent;OMIM |
Sequence Information | |
|---|---|
Nucleotide Sequence | >6833 : length: 4938 AGAGGCGCGGCAGGCGCGCGGAGCCAGCGGAGCCAGCTGAGCCCGAGCCCAGCCCGCGCCCGCGCCGCCATGCCCCTGGCCTTCTGCGGCAGCGAGAACCACTCGGCCGCCTACCGGGTG GACCAGGGGGTCCTCAACAACGGCTGCTTTGTGGACGCGCTCAACGTGGTGCCGCACGTCTTCCTACTCTTCATCACCTTCCCCATCCTCTTCATTGGATGGGGAAGTCAGAGCTCCAAG GTGCACATCCACCACAGCACATGGCTTCATTTCCCTGGGCACAACCTGCGGTGGATCCTGACCTTCATGCTGCTCTTCGTCCTGGTGTGTGAGATTGCAGAGGGCATCCTGTCTGATGGG GTGACCGAATCCCACCATCTGCACCTGTACATGCCAGCCGGGATGGCGTTCATGGCTGCTGTCACCTCCGTGGTCTACTATCACAACATCGAGACTTCCAACTTCCCCAAGCTGCTAATT GCCCTGCTGGTGTATTGGACCCTGGCCTTCATCACCAAGACCATCAAGTTTGTCAAGTTCTTGGACCACGCCATCGGCTTCTCGCAGCTACGCTTCTGCCTCACAGGGCTGCTGGTGATC CTCTATGGGATGCTGCTCCTCGTGGAGGTCAATGTCATCAGGGTGAGGAGATACATCTTCTTCAAGACACCGAGGGAGGTGAAGCCTCCCGAGGACCTGCAAGACCTGGGGGTACGCTTC CTGCAGCCCTTCGTGAATCTGCTGTCCAAAGGCACCTACTGGTGGATGAACGCCTTCATCAAGACTGCCCACAAGAAGCCCATCGACTTGCGAGCCATCGGGAAGCTGCCCATCGCCATG AGGGCCCTCACCAACTACCAACGGCTCTGCGAGGCCTTTGACGCCCAGGTGCGGAAGGACATTCAGGGCACTCAAGGTGCCCGGGCCATCTGGCAGGCACTCAGCCATGCCTTCGGGAGG CGCCTGGTCCTCAGCAGCACTTTCCGCATCTTGGCCGACCTGCTGGGCTTCGCCGGGCCACTGTGCATCTTTGGGATCGTGGACCACCTTGGGAAGGAGAACGACGTCTTCCAGCCCAAG ACACAATTTCTCGGGGTTTACTTTGTCTCATCCCAAGAGTTCCTTGCCAATGCCTACGTCTTAGCTGTGCTTCTGTTCCTTGCCCTCCTACTGCAAAGGACATTTCTGCAAGCATCCTAC TATGTGGCCATTGAAACTGGAATTAACTTGAGAGGAGCAATACAGACCAAGATTTACAATAAAATTATGCACCTGTCCACCTCCAACCTGTCCATGGGAGAAATGACTGCTGGACAGATC TGTAATCTGGTTGCCATCGACACCAATCAGCTCATGTGGTTTTTCTTCTTGTGCCCAAACCTCTGGGCTATGCCAGTACAGATCATTGTGGGTGTGATTCTCCTCTACTACATACTCGGA GTCAGTGCCTTAATTGGAGCAGCTGTCATCATTCTACTGGCTCCTGTCCAGTACTTCGTGGCCACCAAGCTGTCTCAGGCCCAGCGGAGCACACTGGAGTATTCCAATGAGCGGCTGAAG CAGACCAACGAGATGCTCCGCGGCATCAAGCTGCTGAAGCTGTACGCCTGGGAGAACATCTTCCGCACGCGGGTGGAGACGACCCGCAGGAAGGAGATGACCAGCCTCAGGGCCTTTGCC ATCTATACCTCCATCTCCATTTTCATGAACACGGCCATCCCCATTGCAGCTGTCCTCATAACTTTCGTGGGCCACGTCAGCTTCTTCAAAGAGGCCGACTTCTCGCCCTCCGTGGCCTTT GCCTCCCTCTCCCTCTTCCATATCTTGGTCACACCGCTGTTCCTGCTGTCCAGTGTGGTCCGATCTACCGTCAAAGCTCTAGTGAGCGTGCAAAAGCTAAGCGAGTTCCTGTCCAGTGCA GAGATCCGTGAGGAGCAGTGTGCCCCCCATGAGCCCACACCTCAGGGCCCAGCCAGCAAGTACCAGGCGGTGCCCCTCAGGGTTGTGAACCGCAAGCGTCCAGCCCGGGAGGATTGTCGG GGCCTCACCGGCCCACTGCAGAGCCTGGTCCCCAGTGCAGATGGCGATGCTGACAACTGCTGTGTCCAGATCATGGGAGGCTACTTCACGTGGACCCCAGATGGAATCCCCACACTGTCC AACATCACCATTCGTATCCCCCGAGGCCAGCTGACTATGATCGTGGGGCAGGTGGGCTGCGGCAAGTCCTCGCTCCTTCTAGCCGCACTGGGGGAGATGCAGAAGGTCTCAGGGGCTGTC TTCTGGAGCAGCAGCCTTCCTGACAGCGAGATAGGAGAGGACCCCAGCCCAGAGCGGGAGACAGCGACCGACTTGGATATCAGGAAGAGAGGCCCCGTGGCCTATGCTTCGCAGAAACCA TGGCTGCTAAATGCCACTGTGGAGGAGAACATCATCTTTGAGAGTCCCTTCAACAAACAACGGTACAAGATGGTCATTGAAGCCTGCTCTCTGCAGCCAGACATCGACATCCTGCCCCAT GGAGACCAGACCCAGATTGGGGAACGGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGATGACCCCTTC TCAGCTCTGGATATCCATCTGAGTGACCACTTAATGCAGGCCGGCATCCTTGAGCTGCTCCGGGACGACAAGAGGACAGTGGTCTTAGTGACCCACAAGCTACAGTACCTGCCCCATGCA GACTGGATCATTGCCATGAAGGATGGCACCATCCAGAGGGAGGGTACCCTCAAGGACTTCCAGAGGTCTGAATGCCAGCTCTTTGAGCACTGGAAGACCCTCATGAACCGACAGGACCAA GAGCTGGAGAAGGAGACTGTCACAGAGAGAAAAGCCACAGAGCCACCCCAGGGCCTATCTCGTGCCATGTCCTCGAGGGATGGCCTTCTGCAGGATGAGGAAGAGGAGGAAGAGGAGGCA GCTGAGAGCGAGGAGGATGACAACCTGTCGTCCATGCTGCACCAGCGTGCTGAGATCCCATGGCGAGCCTGCGCCAAGTACCTGTCCTCCGCCGGCATCCTGCTCCTGTCGTTGCTGGTC TTCTCACAGCTGCTCAAGCACATGGTCCTGGTGGCCATCGACTACTGGCTGGCCAAGTGGACCGACAGCGCCCTGACCCTGACCCCTGCAGCCAGGAACTGCTCCCTCAGCCAGGAGTGC ACCCTCGACCAGACTGTCTATGCCATGGTGTTCACGGTGCTCTGCAGCCTGGGCATTGTGCTGTGCCTCGTCACGTCTGTCACTGTGGAGTGGACAGGGCTGAAGGTGGCCAAGAGACTG CACCGCAGCCTGCTAAACCGGATCATCCTAGCCCCCATGAGGTTTTTTGAGACCACGCCCCTTGGGAGCATCCTGAACAGATTTTCATCTGACTGTAACACCATCGACCAGCACATCCCA TCCACGCTGGAGTGCCTGAGCCGCTCCACCCTGCTCTGTGTCTCAGCCCTGGCCGTCATCTCCTATGTCACACCTGTGTTCCTCGTGGCCCTCTTGCCCCTGGCCATCGTGTGCTACTTC ATCCAGAAGTACTTCCGGGTGGCGTCCAGGGACCTGCAGCAGCTGGATGACACCACCCAGCTTCCACTTCTCTCACACTTTGCCGAAACCGTAGAAGGACTCACCACCATCCGGGCCTTC AGGTATGAGGCCCGGTTCCAGCAGAAGCTTCTCGAATACACAGACTCCAACAACATTGCTTCCCTCTTCCTCACAGCTGCCAACAGATGGCTGGAAGTCCGAATGGAGTACATCGGTGCA TGTGTGGTGCTCATCGCAGCGGTGACCTCCATCTCCAACTCCCTGCACAGGGAGCTCTCTGCTGGCCTGGTGGGCCTGGGCCTTACCTACGCCCTAATGGTCTCCAACTACCTCAACTGG ATGGTGAGGAACCTGGCAGACATGGAGCTCCAGCTGGGGGCTGTGAAGCGCATCCATGGGCTCCTGAAAACCGAGGCAGAGAGCTACGAGGGGCTCCTGGCACCATCGCTGATCCCAAAG AACTGGCCAGACCAAGGGAAGATCCAGATCCAGAACCTGAGCGTGCGCTACGACAGCTCCCTGAAGCCGGTGCTGAAGCACGTCAATGCCCTCATCGCCCCTGGACAGAAGATCGGGATC TGCGGCCGCACCGGCAGTGGGAAGTCCTCCTTCTCTCTTGCCTTCTTCCGCATGGTGGACACGTTCGAAGGGCACATCATCATTGATGGCATTGACATCGCCAAACTGCCGCTGCACACC CTGCGCTCACGCCTCTCCATCATCCTGCAGGACCCCGTCCTCTTCAGCGGCACCATCCGATTTAACCTGGACCCTGAGAGGAAGTGCTCAGATAGCACACTGTGGGAGGCCCTGGAAATC GCCCAGCTGAAGCTGGTGGTGAAGGCACTGCCAGGAGGCCTCGATGCCATCATCACAGAAGGCGGGGAGAATTTCAGCCAGGGACAGAGGCAGCTGTTCTGCCTGGCCCGGGCCTTCGTG AGGAAGACCAGCATCTTCATCATGGACGAGGCCACGGCTTCCATTGACATGGCCACGGAAAACATCCTCCAAAAGGTGGTGATGACAGCCTTCGCAGACCGCACTGTGGTCACCATCGCG CATCGAGTGCACACCATCCTGAGTGCAGACCTGGTGATCGTCCTGAAGCGGGGTGCCATCCTTGAGTTCGATAAGCCAGAGAAGCTGCTCAGCCGGAAGGACAGCGTCTTCGCCTCCTTC GTCCGTGCAGACAAGTGACCTGCCAGAGCCCAAGTGCCATCCCACATTCGGACCCTGCCCATACCCCTGCCTGGGTTTTCTAACTGTAAATCACTTGTAAATAAATAGATTTGATTATTT CCTAAAAAAAAAAAAAAA |
Protein Sequence | >6833 : length: 1582 MPLAFCGSENHSAAYRVDQGVLNNGCFVDALNVVPHVFLLFITFPILFIGWGSQSSKVHIHHSTWLHFPGHNLRWILTFMLLFVLVCEIAEGILSDGVTESHHLHLYMPAGMAFMAAVTS VVYYHNIETSNFPKLLIALLVYWTLAFITKTIKFVKFLDHAIGFSQLRFCLTGLLVILYGMLLLVEVNVIRVRRYIFFKTPREVKPPEDLQDLGVRFLQPFVNLLSKGTYWWMNAFIKTA HKKPIDLRAIGKLPIAMRALTNYQRLCEAFDAQVRKDIQGTQGARAIWQALSHAFGRRLVLSSTFRILADLLGFAGPLCIFGIVDHLGKENDVFQPKTQFLGVYFVSSQEFLANAYVLAV LLFLALLLQRTFLQASYYVAIETGINLRGAIQTKIYNKIMHLSTSNLSMGEMTAGQICNLVAIDTNQLMWFFFLCPNLWAMPVQIIVGVILLYYILGVSALIGAAVIILLAPVQYFVATK LSQAQRSTLEYSNERLKQTNEMLRGIKLLKLYAWENIFRTRVETTRRKEMTSLRAFAIYTSISIFMNTAIPIAAVLITFVGHVSFFKEADFSPSVAFASLSLFHILVTPLFLLSSVVRST VKALVSVQKLSEFLSSAEIREEQCAPHEPTPQGPASKYQAVPLRVVNRKRPAREDCRGLTGPLQSLVPSADGDADNCCVQIMGGYFTWTPDGIPTLSNITIRIPRGQLTMIVGQVGCGKS SLLLAALGEMQKVSGAVFWSSSLPDSEIGEDPSPERETATDLDIRKRGPVAYASQKPWLLNATVEENIIFESPFNKQRYKMVIEACSLQPDIDILPHGDQTQIGERGINLSGGQRQRISV ARALYQHANVVFLDDPFSALDIHLSDHLMQAGILELLRDDKRTVVLVTHKLQYLPHADWIIAMKDGTIQREGTLKDFQRSECQLFEHWKTLMNRQDQELEKETVTERKATEPPQGLSRAM SSRDGLLQDEEEEEEEAAESEEDDNLSSMLHQRAEIPWRACAKYLSSAGILLLSLLVFSQLLKHMVLVAIDYWLAKWTDSALTLTPAARNCSLSQECTLDQTVYAMVFTVLCSLGIVLCL VTSVTVEWTGLKVAKRLHRSLLNRIILAPMRFFETTPLGSILNRFSSDCNTIDQHIPSTLECLSRSTLLCVSALAVISYVTPVFLVALLPLAIVCYFIQKYFRVASRDLQQLDDTTQLPL LSHFAETVEGLTTIRAFRYEARFQQKLLEYTDSNNIASLFLTAANRWLEVRMEYIGACVVLIAAVTSISNSLHRELSAGLVGLGLTYALMVSNYLNWMVRNLADMELQLGAVKRIHGLLK TEAESYEGLLAPSLIPKNWPDQGKIQIQNLSVRYDSSLKPVLKHVNALIAPGQKIGICGRTGSGKSSFSLAFFRMVDTFEGHIIIDGIDIAKLPLHTLRSRLSIILQDPVLFSGTIRFNL DPERKCSDSTLWEALEIAQLKLVVKALPGGLDAIITEGGENFSQGQRQLFCLARAFVRKTSIFIMDEATASIDMATENILQKVVMTAFADRTVVTIAHRVHTILSADLVIVLKRGAILEF DKPEKLLSRKDSVFASFVRADK |