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Abcb7 Gene Detail
Summary
  • Symbol
    Abcb7
  • Name
    ATP-binding cassette, sub-family B (MDR/TAP), member 7
  • Synonyms
    Abc7
  • Feature Type
    protein coding gene
  • IDs
    MGI:109533
    NCBI Gene: 11306
  • Gene Overview
    MyGene.info: ABCB7
  • Alliance
Location & Maps
more
  • Sequence Map
    ChrX:104280657-104413856 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      133200 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 46.58 cM, cytoband C-D
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    ABCB7, ATP binding cassette subfamily B member 7
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ABCB7, ATP binding cassette subfamily B member 7
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ABC7, ASAT, Atm1p, EST140535
  • Links
    NCBI Gene ID: 22
    neXtProt AC: NX_O75027
    UniProt: O75027

  • Chr Location
    Xq13.3; chrX:75053172-75156340 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human ABCB7 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    17 phenotypes from 2 alleles in 6 genetic backgrounds
    6 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Hemizygous male and heterozygous female mice carrying a maternally inherited null allele display prenatal lethality.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000018115 VEGA Gene Model | MGI Sequence Detail 133200 C57BL/6J ±  kb
    transcript OTTMUST00000043710 VEGA | MGI Sequence Detail 5667 Not Applicable  
    polypeptide OTTMUSP00000019632 VEGA | MGI Sequence Detail 752 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      278 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000003552 ATP-binding cassette sub-family B member 7, mitochondrial
    • InterPro Domains
      IPR003593 AAA+ ATPase domain
      IPR017871 ABC transporter, conserved site
      IPR003439 ABC transporter-like
      IPR011527 ABC transporter type 1, transmembrane domain
      IPR036640 ABC transporter type 1, transmembrane domain superfamily
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
    Molecular
    Reagents
    less
    • All nucleic 21
      cDNA 20
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-39532, MGI:2147832, MGI:2147959
    References
    more
    • Summaries
      All 41
      Developmental Gene Expression 7
      Gene Ontology 7
      Phenotypes 6
    • Earliest
      J:39831 Savary S, et al., Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human. Genomics. 1997 Apr 15;41(2):275-8
    • Latest
      J:257205 Borensztein M, et al., Contribution of epigenetic landscapes and transcription factors to X-chromosome reactivation in the inner cell mass. Nat Commun. 2017 Nov 3;8(1):1297

    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
    09/11/2018
    MGI 6.12
    The Jackson Laboratory