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Abcb6 Gene Detail
Summary
  • Symbol
    Abcb6
  • Name
    ATP-binding cassette, sub-family B (MDR/TAP), member 6
  • Synonyms
    1200005B17Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1921354
    NCBI Gene: 74104
  • Gene Overview
    MyGene.info: ABCB6
Location & Maps
more
  • Sequence Map
    Chr1:75171717-75180392 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      8676 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 38.62 cM, cytoband C3
  • Detailed Genetic Map ± 1 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    ABCB6, ATP binding cassette subfamily B member 6 (Langereis blood group)
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ABCB6, ATP binding cassette subfamily B member 6 (Langereis blood group)
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ABC, ABC14, DUH3, LAN, MCOPCB7, MTABC3, PRP, PSHK2, umat
  • Links
    NCBI Gene ID: 10058
    neXtProt AC: NX_Q9NP58

  • Chr Location
    2q36; chr2:219209766-219218990 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human ABCB6 associations

Human Disease Mouse Models
       Dyschromatosis Universalis Hereditaria 3; DUH3   OMIM: 615402
Microphthalmia, Isolated, with Coloboma 7; MCOPCB7   OMIM: 614497
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    9 phenotypes from 3 alleles in 4 genetic backgrounds
    25 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    8
  • Chemically induced (other)
    1
  • Radiation induced
    2
  • Spontaneous
    1
  • Targeted
    4
  • Genomic Mutations
    4 involving Abcb6
  • Incidental Mutations
Mice homozygous for a null mutation display partial lethality, impaired stress erythropoiesis, and absence of ATP-dependent transport of Coproporphyrin III in mitochondria.
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 OTTMUSG00000034720 VEGA Gene Model | MGI Sequence Detail 8676 C57BL/6J ±  kb
transcript OTTMUST00000088204 VEGA | MGI Sequence Detail 2966 Not Applicable  
polypeptide OTTMUSP00000048059 VEGA | MGI Sequence Detail 842 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    89 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000003551 ATP-binding cassette sub-family B member 6, mitochondrial
  • InterPro Domains
    IPR003593 AAA+ ATPase domain
    IPR017871 ABC transporter, conserved site
    IPR003439 ABC transporter-like
    IPR011527 ABC transporter type 1, transmembrane domain
    IPR032410 Mitochondrial ABC-transporter, N-terminal five TM domain
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
Molecular
Reagents
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  • All nucleic 79
    cDNA 79

    Microarray probesets 3
References
more
  • Summaries
    All 38
    Developmental Gene Expression 4
    Diseases 1
    Gene Ontology 8
    Phenotypes 25
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:222909 Murphy AJ, et al., Deficiency of ATP-binding cassette transporter B6 in megakaryocyte progenitors accelerates atherosclerosis in mice. Arterioscler Thromb Vasc Biol. 2014 Apr;34(4):751-8

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
05/24/2016
MGI 6.04
The Jackson Laboratory