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Abcc8 Gene Detail
Summary
  • Symbol
    Abcc8
  • Name
    ATP-binding cassette, sub-family C member 8
  • Synonyms
    D930031B21Rik, Sur, SUR1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1352629
    NCBI Gene: 20927
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:45753952-45829441 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 29.66 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2660 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1352629
 protein coding gene Chr7:45753947-45829457 (-)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ABCC8, ATP binding cassette subfamily C member 8
  • Synonyms
    ABC36, HHF1, HI, HRINS, MRP8, PHHI, PNDM3, SUR, SUR1, SUR1delta2, TNDM2
  • Links
    NCBI Gene ID: 6833
    neXtProt AC: NX_Q09428
    UniProt: Q09428

  • Chr Location
    11p15.1; chr11:17392498-17476894 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Abcc8 mouse models; 6 with human ABCC8 associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
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
less
  • Phenotype Summary
    10 phenotypes from 4 alleles in 4 genetic backgrounds
    5 phenotypes from multigenic genotypes
    62 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
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
neoplasm
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
    40
  • GO References
    10
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    834
  • Tissues
    109
  • cDNA Data
    21
  • Literature Summary
    17
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20927 NCBI Gene Model | MGI Sequence Detail 75490 C57BL/6J ±  kb
    transcript NM_011510 RefSeq | MGI Sequence Detail 4931 ZRU/MplStud  
    polypeptide NP_035640 RefSeq | MGI Sequence Detail 1588 ZRU/MplStud  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      10 Sequences
    • InterPro Domains
      IPR003593 AAA+ ATPase domain
      IPR003439 ABC transporter-like, ATP-binding domain
      IPR017871 ABC transporter-like, conserved site
      IPR011527 ABC transporter type 1, transmembrane domain
      IPR036640 ABC transporter type 1, transmembrane domain superfamily
      IPR000844 ATP-binding cassette subfamily C member 8
      IPR000388 ATP-binding cassette sub-family C member 8/9
      IPR050173 ATP-binding cassette transporter C
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
    • GlyGen
      B2RUS7 4 sites, 4 N-linked glycans (4 sites)
    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 121
      Developmental Gene Expression 17
      Diseases 3
      Gene Ontology 10
      Phenotypes 62
    • Earliest
      J:34708 Inagaki N, et al., Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor [see comments]. Science. 1995 Nov 17;270(5239):1166-70
    • Latest
      J:353482 Ortiz JA, et al., Trefoil Factor 2 Expressed by the Murine Pancreatic Acinar Cells Is Required for the Development of Islets and for beta-Cell Function During Aging. Diabetes. 2024 Sep 1;73(9):1447-1461
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory