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    Abcc8 ATP-binding cassette, sub-family C member 8 [ Mus musculus (house mouse) ]

    Gene ID: 20927, updated on 3-Dec-2024

    Summary

    Official Symbol
    Abcc8provided by MGI
    Official Full Name
    ATP-binding cassette, sub-family C member 8provided by MGI
    Primary source
    MGI:MGI:1352629
    See related
    Ensembl:ENSMUSG00000040136 AllianceGenome:MGI:1352629
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Sur; SUR1; D930031B21Rik
    Summary
    Enables ADP binding activity and ATP binding activity. Involved in negative regulation of insulin secretion and positive regulation of insulin secretion involved in cellular response to glucose stimulus. Acts upstream of or within several processes, including action potential; glutamate secretion, neurotransmission; and neuromuscular process. Part of protein-containing complex. Is active in plasma membrane. Is expressed in cerebral cortex; foregut-midgut junction; heart ventricle; and retina inner nuclear layer. Used to study hyperinsulinemic hypoglycemia and transient neonatal diabetes mellitus. Human ortholog(s) of this gene implicated in glucose metabolism disease (multiple) and hypertension. Orthologous to human ABCC8 (ATP binding cassette subfamily C member 8). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in cerebellum adult (RPKM 8.6), heart adult (RPKM 8.3) and 11 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Abcc8 in Genome Data Viewer
    Location:
    7 B3; 7 29.66 cM
    Exon count:
    40
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (45753952..45829441, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (46104523..46180039, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene erythrocyte protein band 4.1-like 5 pseudogene Neighboring gene potassium inwardly rectifying channel, subfamily J, member 11 Neighboring gene predicted gene, 51481 Neighboring gene USH1 protein network component harmonin Neighboring gene STARR-seq mESC enhancer starr_18861 Neighboring gene otogelin

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (5)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ADP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATPase-coupled monoatomic cation transmembrane transporter activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables ATPase-coupled transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables potassium channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables transmembrane transporter binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables zinc ion binding ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cellular response to nutrient levels IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within glutamate secretion, neurotransmission IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in intracellular glucose homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in memory ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of angiogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of blood-brain barrier permeability ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of glial cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of insulin secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of insulin secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of insulin secretion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of low-density lipoprotein particle clearance ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of neuroblast migration ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of neurogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within neuromuscular process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of potassium ion transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of tight junction disassembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of tumor necrosis factor production ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of uterine smooth muscle relaxation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to pH ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to zinc ion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in visual learning ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    part_of inward rectifying potassium channel ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    is_active_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in sarcolemma ISO
    Inferred from Sequence Orthology
    more info
     
    located_in synaptic vesicle membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    ATP-binding cassette sub-family C member 8
    Names
    ATP-binding cassette, sub-family C (CFTR/MRP), member 8
    sulfonylurea receptor

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001357538.2NP_001344467.1  ATP-binding cassette sub-family C member 8 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC115036, AC120135
      Conserved Domains (1) summary
      cl26602
      Location:2241578
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
    2. NM_001403104.1NP_001390033.1  ATP-binding cassette sub-family C member 8 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC115036, AC120135
    3. NM_001403109.1NP_001390038.1  ATP-binding cassette sub-family C member 8 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC120135
      UniProtKB/TrEMBL
      Q8BIU4
      Related
      ENSMUST00000210986.2
    4. NM_001403110.1NP_001390039.1  ATP-binding cassette sub-family C member 8 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC115036, AC120135
    5. NM_011510.4NP_035640.2  ATP-binding cassette sub-family C member 8 isoform 1

      See identical proteins and their annotated locations for NP_035640.2

      Status: VALIDATED

      Source sequence(s)
      AC115036, AC120135
      Consensus CDS
      CCDS21275.1
      UniProtKB/TrEMBL
      B2RUS7
      Related
      ENSMUSP00000033123.7, ENSMUST00000033123.8
      Conserved Domains (4) summary
      cd03288
      Location:13491588
      ABCC_SUR2; ATP-binding cassette domain 2 of the sulfonylurea receptor SUR
      TIGR01271
      Location:2231588
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      pfam00664
      Location:10301301
      ABC_membrane; ABC transporter transmembrane region
      cl21455
      Location:679913
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      45753952..45829441 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036152860.1XP_036008753.1  ATP-binding cassette sub-family C member 8 isoform X1

      Conserved Domains (1) summary
      TIGR00957
      Location:2241594
      MRP_assoc_pro; multi drug resistance-associated protein (MRP)
    2. XM_030242316.2XP_030098176.1  ATP-binding cassette sub-family C member 8 isoform X3

      Conserved Domains (1) summary
      TIGR00957
      Location:2241340
      MRP_assoc_pro; multi drug resistance-associated protein (MRP)

    RNA

    1. XR_001785506.2 RNA Sequence

    2. XR_001785505.2 RNA Sequence

    3. XR_882027.2 RNA Sequence

    4. XR_001785512.2 RNA Sequence

    5. XR_001785502.2 RNA Sequence

    6. XR_001785511.2 RNA Sequence

    7. XR_003946427.2 RNA Sequence

    8. XR_004934049.1 RNA Sequence

    9. XR_882028.2 RNA Sequence