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Abcb7 Gene Detail
Summary
  • Symbol
    Abcb7
  • Name
    ATP-binding cassette, sub-family B member 7
  • Synonyms
    Abc7
  • Feature Type
    protein coding gene
  • IDs
    MGI:109533
    NCBI Gene: 11306
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:103324263-103457462 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 46.58 cM, cytoband C-D
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2242 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109533
 protein coding gene ChrX:103324171-103457462 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035990
 protein coding gene ChrX:100984685-101132273 (-)
A/J MGP_AJ_G0035971
 protein coding gene ChrX:100857235-100993817 (-)
AKR/J MGP_AKRJ_G0035889
 protein coding gene ChrX:103967667-104111419 (-)
BALB/cJ MGP_BALBcJ_G0035961
 protein coding gene ChrX:99658653-99797561 (-)
C3H/HeJ MGP_C3HHeJ_G0035667
 protein coding gene ChrX:101432159-101580222 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036487
 protein coding gene ChrX:103933460-104080580 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033315
 protein coding gene ChrX:98454022-98584003 (-)
CAST/EiJ MGP_CASTEiJ_G0034953
 protein coding gene ChrX:85676481-85821020 (-)
CBA/J MGP_CBAJ_G0035642
 protein coding gene ChrX:107145835-107292240 (-)
DBA/2J MGP_DBA2J_G0035796
 protein coding gene ChrX:100118999-100252291 (-)
FVB/NJ MGP_FVBNJ_G0035737
 protein coding gene ChrX:99434674-99565132 (-)
LP/J MGP_LPJ_G0035889
 protein coding gene ChrX:101968930-102112399 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035769
 protein coding gene ChrX:111834583-111982966 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036513
 protein coding gene ChrX:100651514-100793575 (-)
PWK/PhJ MGP_PWKPhJ_G0034651
 protein coding gene ChrX:83248482-83383300 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034479
 protein coding gene ChrX:86387728-86526860 (-)
WSB/EiJ MGP_WSBEiJ_G0035093
 protein coding gene ChrX:99377233-99522356 (-)



Homology
more
  • Human Ortholog
    ABCB7, ATP binding cassette subfamily B member 7
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ABCB7, ATP binding cassette subfamily B member 7
  • Synonyms
    ABC7, ASAT, Atm1p, EST140535
  • Links
    NCBI Gene ID: 22
    neXtProt AC: NX_O75027
    UniProt: O75027

  • Chr Location
    Xq13.3; chrX:75051048-75156732 (-)  GRCh38
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
less
  • Phenotype Summary
    18 phenotypes from 2 alleles in 6 genetic backgrounds
    7 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.
Hemizygous male and heterozygous female mice carrying a maternally inherited null allele display prenatal lethality.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    35
  • GO References
    12
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
non-membrane-bounded 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
    878
  • Tissues
    150
  • cDNA Data
    22
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031333 Ensembl Gene Model | MGI Sequence Detail 133200 C57BL/6J ±  kb
    transcript ENSMUST00000033695 Ensembl | MGI Sequence Detail 5667 Not Applicable  
    polypeptide ENSMUSP00000033695 Ensembl | MGI Sequence Detail 752 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000003552 iron-sulfur clusters transporter ABCB7, mitochondrial
      (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
      Q61102 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 23
      cDNA 22
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-39532, MGI:2147832, MGI:2147959
    References
    more
    • Summaries
      All 45
      Developmental Gene Expression 7
      Gene Ontology 12
      Phenotypes 7
    • 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:347560 Lehrke MJ, et al., The mitochondrial iron transporter ABCB7 is required for B cell development, proliferation, and class switch recombination in mice. Elife. 2021 Nov 11;10:e69621
    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
    10/29/2024
    MGI 6.24     		The Jackson Laboratory