About   Help   FAQ
Abcc8 Gene Detail
Summary
  • Symbol
    Abcc8
  • Name
    ATP-binding cassette, sub-family C (CFTR/MRP), member 8
  • Synonyms
    D930031B21Rik, Sur, SUR1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1352629
    NCBI Gene: 20927
  • Gene Overview
    MyGene.info: ABCC8
Location & Maps
more
  • Sequence Map
    Chr7:46104523-46180033 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      75511 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    ABCC8, ATP binding cassette subfamily C member 8
  • Vertebrate Orthologs
    9
  • Human Ortholog
    ABCC8, ATP binding cassette subfamily C member 8
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ABC36, HHF1, HI, HRINS, MRP8, PHHI, SUR, SUR1, SUR1delta2, TNDM2
  • Links
    NCBI Gene ID: 6833
    neXtProt AC: NX_Q09428

  • Chr Location
    11p15.1; chr11:17392885-17476845 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with Abcc8 mouse models; 5 with human ABCC8 associations

Human Disease Mouse Models
       Diabetes Mellitus, Transient Neonatal, 2   OMIM: 610374 View 1 model
Hyperinsulinemic Hypoglycemia, Familial, 1; HHF1   OMIM: 256450 View 1 model
       Hyperinsulinemic Hypoglycemia, Familial, 2; HHF2   OMIM: 601820
       Diabetes Mellitus, Noninsulin-Dependent; NIDDM   OMIM: 125853
Diabetes Mellitus, Permanent Neonatal; PNDM   OMIM: 606176
Hypoglycemia, Leucine-Induced; LIH   OMIM: 240800
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    9 phenotypes from 3 alleles in 3 genetic backgrounds
    4 phenotypes from multigenic genotypes
    41 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
Homozygotes for targeted null mutations exhibit a transient neonatal hypoglycemia and a late-developing glucose intolerance.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
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 sequence
Polymorphisms
less
  • SNPs within 2kb
    904 from dbSNP Build 142
  • PCR
Protein
Information
less
  • UniProt
    5 Sequences
  • InterPro Domains
    IPR003593 AAA+ ATPase domain
    IPR017871 ABC transporter, conserved site
    IPR003439 ABC transporter-like
    IPR011527 ABC transporter type 1, transmembrane domain
    IPR000844 ATP-binding cassette subfamily C member 8
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
    IPR000388 Sulphonylurea receptor
Molecular
Reagents
less
  • All nucleic 28
    Genomic 3
    cDNA 21
    Primer pair 3
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-33673, MGI:105993, MGI:3036285
References
more
  • Summaries
    All 84
    Developmental Gene Expression 11
    Diseases 3
    Gene Ontology 3
    Phenotypes 41
  • 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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
04/26/2016
MGI 6.03
The Jackson Laboratory