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Abcc8
Gene Detail
 Symbol
Name
ID
Abcc8
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
MGI:1352629
Synonyms D930031B21Rik, Sur, SUR1
Feature Type protein coding gene
Genetic Map
Chromosome 7
29.66 cM
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
Chr7:46104523-46180033 bp, - strand
From NCBI annotation of GRCm38

  75511 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:68048  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Abcc8

Human
homologs
Human Homolog ABCC8, ATP-binding cassette, sub-family C (CFTR/MRP), member 8
NCBI Gene ID 6833
neXtProt AC  NX_Q09428
Human Synonyms  ABC36, HHF1, HI, HRINS, MRP8, PHHI, SUR, SUR1, SUR1delta2, TNDM2
Human Chr (Location)  11p15.1; chr11:17392885-17476845 (-)  GRCh38
Disease Associations  (5) Diseases Associated with Human ABCC8
Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Targeted(8)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for targeted null mutations exhibit a transient neonatal hypoglycemia and a late-developing glucose intolerance.
 
Human Diseases Modeled Using Mouse Abcc8 (2)    Alleles Annotated to Human Diseases(2)   
Interactions
Abcc8 interacts with 51 markers (Mir15a, Mir15b, Mir16-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (15 annotations)
Process cellular response to organic substance, negative regulation of insulin secretion, ...
Component plasma membrane, sarcolemma, ...
Function ATP binding, ion channel binding, ...
External Resources: FuncBase
Expression
Literature Summary: (10 records)
Data Summary: Results (125)    Tissues (105)    Images (16)
Theiler Stages: 19, 21, 22, 23, 25, 26, 28
Assay TypeResults
RNA in situ 116
RT-PCR 9
cDNA source data(20)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(27) Genomic(3) cDNA(21) Primer pair(3)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000040136 (Evidence)
Entrez Gene20927 (Evidence)
UniGene259076
DFCITC1580983, TC1610533, TC1628439
DoTSDT.523419, DT.87048078, DT.91370470, DT.94148521
NIA Mouse Gene IndexU028551
Consensus CDS ProjectCCDS21275.1
International Mouse Knockout Project StatusAbcc8
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 20927 NCBI Gene Model | MGI Sequence Detail 75511 C57BL/6J ±  kb
transcript NM_011510 RefSeq | MGI Sequence Detail 4952 C57BL/6 
polypeptide NP_035640 RefSeq | MGI Sequence Detail 1588 C57BL/6 

For the selected sequences
All sequences(68) RefSeq(20) UniProt(5)
Polymorphisms PCR(1) : SNPs within 2kb(911 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003593 AAA+ ATPase domain
InterPro IPR017871 ABC transporter, conserved site
InterPro IPR003439 ABC transporter-like
InterPro IPR001140 ABC transporter, transmembrane domain
InterPro IPR011527 ABC transporter, transmembrane domain, type 1
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
InterPro IPR000388 Sulphonylurea receptor
InterPro IPR000844 Sulphonylurea receptor, type 1
Protein Ontology PR:000003563 ATP-binding cassette sub-family C member 8
References (Earliest) J:39110 Aguilar-Bryan L, et al., Cloning of the beta cell high-affinity sulfonylurea receptor: a regulator of insulin secretion [see comments]. Science. 1995 Apr 21;268(5209):423-6
(Latest) J:208932 Shimomura K, et al., A mouse model of human hyperinsulinism produced by the E1506K mutation in the sulphonylurea receptor SUR1. Diabetes. 2013 Nov;62(11):3797-806
All references(88)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-33673, MGI:105993, MGI:3036285

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/23/2014
MGI 5.19
The Jackson Laboratory