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Abcb8 Gene Detail
Summary
  • Symbol
    Abcb8
  • Name
    ATP-binding cassette, sub-family B (MDR/TAP), member 8
  • Synonyms
    4833412N02Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1351667
    NCBI Gene: 74610
  • Gene Overview
    MyGene.info: ABCB8
Location & Maps
more
  • Sequence Map
    Chr5:24393663-24410054 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      16392 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 11.57 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    ABCB8, ATP binding cassette subfamily B member 8
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ABCB8, ATP binding cassette subfamily B member 8
    Orthology source: HomoloGene, HGNC
  • Synonyms
    EST328128, MABC1, M-ABC1
  • Links
    NCBI Gene ID: 11194
    neXtProt AC: NX_Q9NUT2

  • Chr Location
    7q36; chr7:151028422-151047782 (+)  GRCh38.p2

Human Diseases
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  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    12 phenotypes from 1 allele in 1 genetic background
    18 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
    11
  • Chemically induced (other)
    2
  • Gene trapped
    4
  • Radiation induced
    1
  • Spontaneous
    1
  • Targeted
    3
  • Genomic Mutations
    4 involving Abcb8
  • Incidental Mutations
Inducible cardiac specific deletion results in mild cardiomyopathy, mitochondrial defects and elevated heart mitochondrial iron levels.
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 OTTMUSG00000024149 VEGA Gene Model | MGI Sequence Detail 16392 C57BL/6J ±  kb
transcript OTTMUST00000059077 VEGA | MGI Sequence Detail 3074 Not Applicable  
polypeptide OTTMUSP00000028705 VEGA | MGI Sequence Detail 717 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    177 from dbSNP Build 142
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000032495 ATP-binding cassette sub-family B member 8, mitochondrial
  • InterPro Domains
    IPR003593 AAA+ ATPase domain
    IPR017871 ABC transporter, conserved site
    IPR003439 ABC transporter-like
    IPR011527 ABC transporter type 1, transmembrane domain
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
Molecular
Reagents
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  • All nucleic 96
    cDNA 96

    Microarray probesets 4
Other
Accession IDs
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MGI:1921860, MGI:2140747
References
more
  • Summaries
    All 38
    Developmental Gene Expression 2
    Diseases 1
    Gene Ontology 5
    Phenotypes 18
  • Earliest
    J:60841 Schriml LM, et al., Identification of 18 mouse ABC genes and characterization of the ABC superfamily in Mus musculus. Genomics. 2000 Feb 15;64(1):24-31
  • Latest
    J:229593 Chang HC, et al., Reduction in mitochondrial iron alleviates cardiac damage during injury. EMBO Mol Med. 2016;8(3):247-67

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory