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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 Ensembl 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

HCOP human homology predictions: ABCC8
Gene Tree: Abcc8

Human
homologs
ABCC8, ATP-binding cassette, sub-family C (CFTR/MRP), member 8
Orthology source: HGNC, HomoloGene

IDs:
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.p2

Disease Associations: (5) Diseases Associated with Human ABCC8

Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Targeted(9)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygotes for targeted null mutations exhibit a transient neonatal hypoglycemia and a late-developing glucose intolerance.
 
Human Diseases Modeled in Mice Using Abcc8 (2)    Mutations Annotated to Human Diseases (2)   
Interactions
Abcc8 interacts with 51 markers (Mir15a, Mir15b, Mir16-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (16 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 (106)    Images (16)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 116
RT-PCR 9
cDNA source data(20)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA ABCC8    NEW 
Molecular
reagents
All nucleic(27) Genomic(3) cDNA(21) Primer pair(3)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000040136 (Evidence)
Entrez Gene 20927 (Evidence)
UniGene 259076
DFCI TC1628439, TC1610533, TC1580983
DoTS DT.94148521, DT.91370470, DT.523419, DT.87048078
NIA Mouse Gene Index U028551
Consensus CDS Project CCDS21275.1
International Mouse Phenotyping Consortium Status Abcc8
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000040136 Ensembl Gene Model | MGI Sequence Detail 75511 C57BL/6J ±  kb
transcript ENSMUST00000033123 Ensembl | MGI Sequence Detail 4952 Not Applicable 
polypeptide ENSMUSP00000033123 Ensembl | MGI Sequence Detail 1588 Not Applicable 

For the selected sequences
All sequences(74) RefSeq(26) 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 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:215008 Nakamura Y, et al., Targeting SUR1/Abcc8-type neuroendocrine KATP channels in pancreatic islet cells. PLoS One. 2014;9(3):e91525
All references(86)
Disease annotation references (3)
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
07/28/2015
MGI 5.22
The Jackson Laboratory