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Abcb8 Gene Detail
Summary
  • Symbol
    Abcb8
  • Name
    ATP-binding cassette, sub-family B member 8
  • Synonyms
    4833412N02Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1351667
    NCBI Gene: 74610
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:24598661-24615052 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 11.57 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    437 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1351667
 protein coding gene Chr5:24598661-24617757 (+)
129S1/SvImJ MGP_129S1SvImJ_G0029340
 protein coding gene Chr5:22116904-22135775 (+)
A/J MGP_AJ_G0029306
 protein coding gene Chr5:21365400-21382806 (+)
AKR/J MGP_AKRJ_G0029257
 protein coding gene Chr5:22226721-22243112 (+)
BALB/cJ MGP_BALBcJ_G0029317
 protein coding gene Chr5:21879554-21895950 (+)
C3H/HeJ MGP_C3HHeJ_G0029037
 protein coding gene Chr5:22339149-22356253 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029770
 protein coding gene Chr5:23613917-23631064 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0027008
 protein coding gene Chr5:19308846-19325378 (+)
CAST/EiJ MGP_CASTEiJ_G0028449
 protein coding gene Chr5:21512726-21528672 (+)
CBA/J MGP_CBAJ_G0029004
 protein coding gene Chr5:23986159-24008593 (+)
DBA/2J MGP_DBA2J_G0029155
 protein coding gene Chr5:21659908-21675984 (+)
FVB/NJ MGP_FVBNJ_G0029113
 protein coding gene Chr5:21028348-21044487 (+)
LP/J MGP_LPJ_G0029239
 protein coding gene Chr5:22516540-22535673 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0029142
 protein coding gene Chr5:25121315-25139586 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029804
 protein coding gene Chr5:21865834-21885336 (+)
PWK/PhJ MGP_PWKPhJ_G0028173
 protein coding gene Chr5:20737564-20753714 (+)
SPRET/EiJ MGP_SPRETEiJ_G0028004
 protein coding gene Chr5:21226136-21242232 (+)
WSB/EiJ MGP_WSBEiJ_G0028529
 protein coding gene Chr5:21934457-21950825 (+)



Homology
more
  • Human Ortholog
    ABCB8, ATP binding cassette subfamily B member 8
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ABCB8, ATP binding cassette subfamily B member 8
  • Synonyms
    EST328128, M-ABC1, MABC1, MITOSUR
  • Links
    NCBI Gene ID: 11194
    neXtProt AC: NX_Q9NUT2
    UniProt: Q9NUT2

  • Chr Location
    7q36.1; chr7:151028422-151047782 (+)  GRCh38
Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotypes from 1 allele in 1 genetic background
    19 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.
Inducible cardiac specific deletion results in mild cardiomyopathy, mitochondrial defects and elevated heart mitochondrial iron levels.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    25
  • GO References
    9
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
    843
  • Tissues
    123
  • cDNA Data
    97
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000028973 Ensembl Gene Model | MGI Sequence Detail 16392 C57BL/6J ±  kb
    transcript ENSMUST00000073076 Ensembl | MGI Sequence Detail 2939 Not Applicable  
    polypeptide ENSMUSP00000072826 Ensembl | MGI Sequence Detail 717 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000032495 mitochondrial potassium channel ATP-binding subunit
      (term hierarchy)
    • 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
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
      IPR039421 Type 1 protein exporter
    • GlyGen
      Q9CXJ4 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 98
      cDNA 98

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1921860, MGI:2140747
    References
    more
    • Summaries
      All 52
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 9
      Phenotypes 19
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:279978 Paggio A, et al., Identification of an ATP-sensitive potassium channel in mitochondria. Nature. 2019 Aug;572(7771):609-613
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/05/2024
    MGI 6.24     		The Jackson Laboratory