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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
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:46104523-46180033 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 29.66 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    904 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1352629
protein coding gene Chr7:46104523-46180039 (-)
129S1/SvImJ MGP_129S1SvImJ_G0032260
protein coding gene Chr7:46453885-46535934 (-)
A/J MGP_AJ_G0032239
protein coding gene Chr7:45508041-45584628 (-)
AKR/J MGP_AKRJ_G0032175
protein coding gene Chr7:46796030-46871432 (-)
BALB/cJ MGP_BALBcJ_G0032251
protein coding gene Chr7:45509578-45589088 (-)
C3H/HeJ MGP_C3HHeJ_G0031966
protein coding gene Chr7:47290481-47373854 (-)
C57BL/6NJ MGP_C57BL6NJ_G0032743
protein coding gene Chr7:48729770-48809458 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029757
protein coding gene Chr7:48055818-48130873 (-)
CAST/EiJ MGP_CASTEiJ_G0031294
protein coding gene Chr7:38720417-38800667 (-)
CBA/J MGP_CBAJ_G0031931
protein coding gene Chr7:50358819-50442913 (-)
DBA/2J MGP_DBA2J_G0032088
protein coding gene Chr7:45199478-45276392 (-)
FVB/NJ MGP_FVBNJ_G0032040
protein coding gene Chr7:44981105-45063229 (-)
LP/J MGP_LPJ_G0032167
protein coding gene Chr7:47157165-47236182 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032077
protein coding gene Chr7:49005495-49084567 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0032758
protein coding gene Chr7:46001619-46083565 (-)
PWK/PhJ MGP_PWKPhJ_G0031017
protein coding gene Chr7:38564781-38645372 (-)
SPRET/EiJ MGP_SPRETEiJ_G0030855
protein coding gene Chr7:34025641-34100611 (-)
WSB/EiJ MGP_WSBEiJ_G0031412
protein coding gene Chr7:46496730-46574753 (-)



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: HomoloGene, HGNC
  • Synonyms
    ABC36, HHF1, HI, HRINS, MRP8, PHHI, SUR, SUR1, SUR1delta2, TNDM2
  • Links
    NCBI Gene ID: 6833
    neXtProt AC: NX_Q09428
    UniProt: Q09428

  • Chr Location
    11p15.1; chr11:17392885-17476870 (-)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
View 1 model
      
IDs
IDs
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
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  • Phenotype Summary
    9 phenotypes from 3 alleles in 3 genetic backgrounds
    4 phenotypes from multigenic genotypes
    44 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
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  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • 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 4877 Not Applicable  
    polypeptide ENSMUSP00000033123 Ensembl | MGI Sequence Detail 1588 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      10 Sequences
    • InterPro Domains
      IPR003593 AAA+ ATPase domain
      IPR017871 ABC transporter, conserved site
      IPR003439 ABC transporter-like
      IPR011527 ABC transporter type 1, transmembrane domain
      IPR036640 ABC transporter type 1, transmembrane domain superfamily
      IPR000844 ATP-binding cassette subfamily C member 8
      IPR001475 ATP-binding cassette subfamily C member 9
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
      IPR000388 Sulphonylurea receptor
    Molecular
    Reagents
    less
    • All nucleic 29
      Genomic 3
      cDNA 22
      Primer pair 3
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-33673, MGI:105993, MGI:3036285
    References
    more
    • Summaries
      All 97
      Developmental Gene Expression 14
      Diseases 3
      Gene Ontology 5
      Phenotypes 44
    • 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:266080 Lai BK, et al., Somatostatin Is Only Partly Required for the Glucagonostatic Effect of Glucose but Is Necessary for the Glucagonostatic Effect of KATP Channel Blockers. Diabetes. 2018 Nov;67(11):2239-2253

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory