| Entry |
|
| Gene name |
ABCC8, ABC36, HHF1, HI, HRINS, MRP8, PHHI, SUR, SUR1, SUR1delta2, TNDM2
|
| Definition |
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
| Orthology |
| ATP-binding cassette subfamily C (CFTR/MRP) member 8 |
|
| Organism |
|
| Pathway |
| ABC transporters | | Insulin secretion | | Type II diabetes mellitus |
|
| Disease |
| Permanent neonatal diabetes mellitus (PNDM) | | Transient neonatal diabetes mellitus (TNDM) | | Familial hyperinsulinemic hypoglycemia (HHF) |
|
| Drug target |
Glibenclamide: Chlorpropamide: Tolbutamide: Glibornuride: Tolazamide: Carbutamide: Glipizide: Gliquidone: Gliclazide: Metahexamide: Glisoxepide: Glimepiride: Acetohexamide: Glymidine: Repaglinide: Nateglinide: Mitiglinide: Nicorandil: Diazoxide: Minoxidil: Pinacidil: Other: |
| Class |
Environmental Information Processing; Membrane transport; ABC transporters [PATH: hsa02010]
Organismal Systems; Endocrine system; Insulin secretion [PATH: hsa04911]
Human Diseases; Endocrine and metabolic diseases; Type II diabetes mellitus [PATH: hsa04930]
 |
| SSDB |
   |
| Motif |
 |
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
| Position |
11p15.1
|
| AA seq |
1581 aa  
MPLAFCGSENHSAAYRVDQGVLNNGCFVDALNVVPHVFLLFITFPILFIGWGSQSSKVHI
HHSTWLHFPGHNLRWILTFMLLFVLVCEIAEGILSDGVTESHHLHLYMPAGMAFMAAVTS
VVYYHNIETSNFPKLLIALLVYWTLAFITKTIKFVKFLDHAIGFSQLRFCLTGLLVILYG
MLLLVEVNVIRVRRYIFFKTPREVKPPEDLQDLGVRFLQPFVNLLSKGTYWWMNAFIKTA
HKKPIDLRAIGKLPIAMRALTNYQRLCEAFDAQVRKDIQGTQGARAIWQALSHAFGRRLV
LSSTFRILADLLGFAGPLCIFGIVDHLGKENDVFQPKTQFLGVYFVSSQEFLANAYVLAV
LLFLALLLQRTFLQASYYVAIETGINLRGAIQTKIYNKIMHLSTSNLSMGEMTAGQICNL
VAIDTNQLMWFFFLCPNLWAMPVQIIVGVILLYYILGVSALIGAAVIILLAPVQYFVATK
LSQAQRSTLEYSNERLKQTNEMLRGIKLLKLYAWENIFRTRVETTRRKEMTSLRAFAIYT
SISIFMNTAIPIAAVLITFVGHVSFFKEADFSPSVAFASLSLFHILVTPLFLLSSVVRST
VKALVSVQKLSEFLSSAEIREEQCAPHEPTPQGPASKYQAVPLRVVNRKRPAREDCRGLT
GPLQSLVPSADGDADNCCVQIMGGYFTWTPDGIPTLSNITIRIPRGQLTMIVGQVGCGKS
SLLLAALGEMQKVSGAVFWSSLPDSEIGEDPSPERETATDLDIRKRGPVAYASQKPWLLN
ATVEENIIFESPFNKQRYKMVIEACSLQPDIDILPHGDQTQIGERGINLSGGQRQRISVA
RALYQHANVVFLDDPFSALDIHLSDHLMQAGILELLRDDKRTVVLVTHKLQYLPHADWII
AMKDGTIQREGTLKDFQRSECQLFEHWKTLMNRQDQELEKETVTERKATEPPQGLSRAMS
SRDGLLQDEEEEEEEAAESEEDDNLSSMLHQRAEIPWRACAKYLSSAGILLLSLLVFSQL
LKHMVLVAIDYWLAKWTDSALTLTPAARNCSLSQECTLDQTVYAMVFTVLCSLGIVLCLV
TSVTVEWTGLKVAKRLHRSLLNRIILAPMRFFETTPLGSILNRFSSDCNTIDQHIPSTLE
CLSRSTLLCVSALAVISYVTPVFLVALLPLAIVCYFIQKYFRVASRDLQQLDDTTQLPLL
SHFAETVEGLTTIRAFRYEARFQQKLLEYTDSNNIASLFLTAANRWLEVRMEYIGACVVL
IAAVTSISNSLHRELSAGLVGLGLTYALMVSNYLNWMVRNLADMELQLGAVKRIHGLLKT
EAESYEGLLAPSLIPKNWPDQGKIQIQNLSVRYDSSLKPVLKHVNALIAPGQKIGICGRT
GSGKSSFSLAFFRMVDTFEGHIIIDGIDIAKLPLHTLRSRLSIILQDPVLFSGTIRFNLD
PERKCSDSTLWEALEIAQLKLVVKALPGGLDAIITEGGENFSQGQRQLFCLARAFVRKTS
IFIMDEATASIDMATENILQKVVMTAFADRTVVTIAHRVHTILSADLVIVLKRGAILEFD
KPEKLLSRKDSVFASFVRADK |
| NT seq |
4746 nt  +upstreamnt +downstreamnt
atgcccctggccttctgcggcagcgagaaccactcggccgcctaccgggtggaccagggg
gtcctcaacaacggctgctttgtggacgcgctcaacgtggtgccgcacgtcttcctactc
ttcatcaccttccccatcctcttcattggatggggaagtcagagctccaaggtgcacatc
caccacagcacatggcttcatttccctgggcacaacctgcggtggatcctgaccttcatg
ctgctcttcgtcctggtgtgtgagattgcagagggcatcctgtctgatggggtgaccgaa
tcccaccatctgcacctgtacatgccagccgggatggcgttcatggctgctgtcacctcc
gtggtctactatcacaacatcgagacttccaacttccccaagctgctaattgccctgctg
gtgtattggaccctggccttcatcaccaagaccatcaagtttgtcaagttcttggaccac
gccatcggcttctcgcagctacgcttctgcctcacagggctgctggtgatcctctatggg
atgctgctcctcgtggaggtcaatgtcatcagggtgaggagatacatcttcttcaagaca
ccgagggaggtgaagcctcccgaggacctgcaagacctgggggtacgcttcctgcagccc
ttcgtgaatctgctgtccaaaggcacctactggtggatgaacgccttcatcaagactgcc
cacaagaagcccatcgacttgcgagccatcgggaagctgcccatcgccatgagggccctc
accaactaccaacggctctgcgaggcctttgacgcccaggtgcggaaggacattcagggc
actcaaggtgcccgggccatctggcaggcactcagccatgccttcgggaggcgcctggtc
ctcagcagcactttccgcatcttggccgacctgctgggcttcgccgggccactgtgcatc
tttgggatcgtggaccaccttgggaaggagaacgacgtcttccagcccaagacacaattt
ctcggggtttactttgtctcatcccaagagttccttgccaatgcctacgtcttagctgtg
cttctgttccttgccctcctactgcaaaggacatttctgcaagcatcctactatgtggcc
attgaaactggaattaacttgagaggagcaatacagaccaagatttacaataaaattatg
cacctgtccacctccaacctgtccatgggagaaatgactgctggacagatctgtaatctg
gttgccatcgacaccaatcagctcatgtggtttttcttcttgtgcccaaacctctgggct
atgccagtacagatcattgtgggtgtgattctcctctactacatactcggagtcagtgcc
ttaattggagcagctgtcatcattctactggctcctgtccagtacttcgtggccaccaag
ctgtctcaggcccagcggagcacactggagtattccaatgagcggctgaagcagaccaac
gagatgctccgcggcatcaagctgctgaagctgtacgcctgggagaacatcttccgcacg
cgggtggagacgacccgcaggaaggagatgaccagcctcagggcctttgccatctatacc
tccatctccattttcatgaacacggccatccccattgcagctgtcctcataactttcgtg
ggccacgtcagcttcttcaaagaggccgacttctcgccctccgtggcctttgcctccctc
tccctcttccatatcttggtcacaccgctgttcctgctgtccagtgtggtccgatctacc
gtcaaagctctagtgagcgtgcaaaagctaagcgagttcctgtccagtgcagagatccgt
gaggagcagtgtgccccccatgagcccacacctcagggcccagccagcaagtaccaggcg
gtgcccctcagggttgtgaaccgcaagcgtccagcccgggaggattgtcggggcctcacc
ggcccactgcagagcctggtccccagtgcagatggcgatgctgacaactgctgtgtccag
atcatgggaggctacttcacgtggaccccagatggaatccccacactgtccaacatcacc
attcgtatcccccgaggccagctgactatgatcgtggggcaggtgggctgcggcaagtcc
tcgctccttctagccgcactgggggagatgcagaaggtctcaggggctgtcttctggagc
agccttcctgacagcgagataggagaggaccccagcccagagcgggagacagcgaccgac
ttggatatcaggaagagaggccccgtggcctatgcttcgcagaaaccatggctgctaaat
gccactgtggaggagaacatcatctttgagagtcccttcaacaaacaacggtacaagatg
gtcattgaagcctgctctctgcagccagacatcgacatcctgccccatggagaccagacc
cagattggggaacggggcatcaacctgtctggtggtcaacgccagcgaatcagtgtggcc
cgagccctctaccagcacgccaacgttgtcttcttggatgaccccttctcagctctggat
atccatctgagtgaccacttaatgcaggccggcatccttgagctgctccgggacgacaag
aggacagtggtcttagtgacccacaagctacagtacctgccccatgcagactggatcatt
gccatgaaggatggcaccatccagagggagggtaccctcaaggacttccagaggtctgaa
tgccagctctttgagcactggaagaccctcatgaaccgacaggaccaagagctggagaag
gagactgtcacagagagaaaagccacagagccaccccagggcctatctcgtgccatgtcc
tcgagggatggccttctgcaggatgaggaagaggaggaagaggaggcagctgagagcgag
gaggatgacaacctgtcgtccatgctgcaccagcgtgctgagatcccatggcgagcctgc
gccaagtacctgtcctccgccggcatcctgctcctgtcgttgctggtcttctcacagctg
ctcaagcacatggtcctggtggccatcgactactggctggccaagtggaccgacagcgcc
ctgaccctgacccctgcagccaggaactgctccctcagccaggagtgcaccctcgaccag
actgtctatgccatggtgttcacggtgctctgcagcctgggcattgtgctgtgcctcgtc
acgtctgtcactgtggagtggacagggctgaaggtggccaagagactgcaccgcagcctg
ctaaaccggatcatcctagcccccatgaggttttttgagaccacgccccttgggagcatc
ctgaacagattttcatctgactgtaacaccatcgaccagcacatcccatccacgctggag
tgcctgagccgctccaccctgctctgtgtctcagccctggccgtcatctcctatgtcaca
cctgtgttcctcgtggccctcttgcccctggccatcgtgtgctacttcatccagaagtac
ttccgggtggcgtccagggacctgcagcagctggatgacaccacccagcttccacttctc
tcacactttgccgaaaccgtagaaggactcaccaccatccgggccttcaggtatgaggcc
cggttccagcagaagcttctcgaatacacagactccaacaacattgcttccctcttcctc
acagctgccaacagatggctggaagtccgaatggagtacatcggtgcatgtgtggtgctc
atcgcagcggtgacctccatctccaactccctgcacagggagctctctgctggcctggtg
ggcctgggccttacctacgccctaatggtctccaactacctcaactggatggtgaggaac
ctggcagacatggagctccagctgggggctgtgaagcgcatccatgggctcctgaaaacc
gaggcagagagctacgaggggctcctggcaccatcgctgatcccaaagaactggccagac
caagggaagatccagatccagaacctgagcgtgcgctacgacagctccctgaagccggtg
ctgaagcacgtcaatgccctcatcgcccctggacagaagatcgggatctgcggccgcacc
ggcagtgggaagtcctccttctctcttgccttcttccgcatggtggacacgttcgaaggg
cacatcatcattgatggcattgacatcgccaaactgccgctgcacaccctgcgctcacgc
ctctccatcatcctgcaggaccccgtcctcttcagcggcaccatccgatttaacctggac
cctgagaggaagtgctcagatagcacactgtgggaggccctggaaatcgcccagctgaag
ctggtggtgaaggcactgccaggaggcctcgatgccatcatcacagaaggcggggagaat
ttcagccagggacagaggcagctgttctgcctggcccgggccttcgtgaggaagaccagc
atcttcatcatggacgaggccacggcttccattgacatggccacggaaaacatcctccaa
aaggtggtgatgacagccttcgcagaccgcactgtggtcaccatcgcgcatcgagtgcac
accatcctgagtgcagacctggtgatcgtcctgaagcggggtgccatccttgagttcgat
aagccagagaagctgctcagccggaaggacagcgtcttcgcctccttcgtccgtgcagac
aagtga |