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Abcc9 Gene Detail
Summary
  • Symbol
    Abcc9
  • Name
    ATP-binding cassette, sub-family C (CFTR/MRP), member 9
  • Synonyms
    Sur2, SUR2A, SUR2B
  • Feature Type
    protein coding gene
  • IDs
    MGI:1352630
    NCBI Gene: 20928
  • Gene Overview
    MyGene.info: ABCC9
Location & Maps
more
  • Sequence Map
    Chr6:142587862-142702315 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      114454 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 74.35 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    ABCC9, ATP binding cassette subfamily C member 9
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ABCC9, ATP binding cassette subfamily C member 9
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ABC37, ATFB12, CANTU, CMD1O, SUR2
  • Links
    NCBI Gene ID: 10060
    neXtProt AC: NX_O60706

  • Chr Location
    12p12.1; chr12:21797389-21941863 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 56521
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: ABCC9
  • Gene Tree
Human Diseases
more
  • Diseases
    3 with human ABCC9 associations

Human Disease Mouse Models
       Atrial Fibrillation, Familial, 12; ATFB12   OMIM: 614050
Cantu Syndrome   OMIM: 239850
Cardiomyopathy, Dilated, 1O; CMD1O   OMIM: 608569
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    34 phenotypes from 3 alleles in 4 genetic backgrounds
    14 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.
  • All Mutations and Alleles
    6
  • Targeted
    5
  • Transgenic
    1
  • Genomic Mutations
    1 involving Abcc9
  • Incidental Mutations
Mice homozygous for a null allele display lower serum glucose, enhanced insulin action, growth retardation, hypertension and spontaneous death due to episodic coronary artery vasospasm. Homozygous exon 5 deletion leads to cardiac mitochondrial defects, cardiomyopathy, and early postnatal death.
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
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
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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
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000057137 VEGA Gene Model | MGI Sequence Detail 114454 C57BL/6J ±  kb
transcript OTTMUST00000140695 VEGA | MGI Sequence Detail 7306 Not Applicable  
polypeptide OTTMUSP00000073641 VEGA | MGI Sequence Detail 1546 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    1759 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000003564 ATP-binding cassette sub-family C member 9
  • InterPro Domains
    IPR003593 AAA+ ATPase domain
    IPR017871 ABC transporter, conserved site
    IPR003439 ABC transporter-like
    IPR011527 ABC transporter type 1, transmembrane domain
    IPR001475 ATP-binding cassette subfamily C member 9
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
    IPR000388 Sulphonylurea receptor
Molecular
Reagents
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  • All nucleic 12
    cDNA 10
    Primer pair 2

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-36495, MGI:107915, MGI:1889815, MGI:1889833
References
more
  • Summaries
    All 54
    Developmental Gene Expression 3
    Gene Ontology 7
    Phenotypes 14
  • Earliest
    J:9177 Williams T, et al., The mouse surfeit locus contains a very tight cluster of four housekeeping genes that is conserved through evolution. Proc Natl Acad Sci U S A. 1988 May;85(10):3527-30
  • Latest
    J:220734 Zhang L, et al., Reprogramming of Sertoli cells to fetal-like Leydig cells by Wt1 ablation. Proc Natl Acad Sci U S A. 2015 Mar 31;112(13):4003-8

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
06/15/2016
MGI 6.04
The Jackson Laboratory