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Abca4 Gene Detail
Summary
  • Symbol
    Abca4
  • Name
    ATP-binding cassette, sub-family A (ABC1), member 4
  • Synonyms
    Abc10, D430003I15Rik, Rim protein, RmP
  • Feature Type
    protein coding gene
  • IDs
    MGI:109424
    NCBI Gene: 11304
  • Gene Overview
    MyGene.info: ABCA4
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr3:122044443-122180123 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      135681 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 52.94 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    ABCA4, ATP binding cassette subfamily A member 4
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ABCA4, ATP binding cassette subfamily A member 4
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ABC10, ABCR, ARMD2, CORD3, FFM, RMP, RP19, STGD, STGD1
  • Links
    NCBI Gene ID: 24
    neXtProt AC: NX_P78363
    UniProt: P78363

  • Chr Location
    1p22.1; chr1:93992837-94121149 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 298
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: ABCA4
  • Gene Tree
Human Diseases
more
  • Diseases
    3 with Abca4 mouse models; 4 with human ABCA4 associations

Human Disease Mouse Models
      
IDs
View 2 models
IDs
View 2 models
IDs
View 5 models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    14 phenotypes from 4 alleles in 6 genetic backgrounds
    15 phenotypes from multigenic genotypes
    84 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.
Mice homozygous for targeted mutations that inactivate the gene display delayed rod dark adaptation and are a model for juvenile macular degeneration.
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 OTTMUSG00000029911 VEGA Gene Model | MGI Sequence Detail 135681 C57BL/6J ±  kb
    transcript OTTMUST00000074208 VEGA | MGI Sequence Detail 7263 Not Applicable  
    polypeptide OTTMUSP00000038539 VEGA | MGI Sequence Detail 2310 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      1761 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 33
      cDNA 31
      Primer pair 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-38469, MGI:2139961, MGI:2444181
    References
    more
    • Summaries
      All 119
      Developmental Gene Expression 4
      Diseases 6
      Gene Ontology 8
      Phenotypes 84
    • Earliest
      J:38700 Allikmets R, et al., A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy [see comments]. Nat Genet. 1997 Mar;15(3):236-46
    • Latest
      J:263183 Prokopiou E, et al., Omega-3 Fatty Acids Supplementation: Therapeutic Potential in a Mouse Model of Stargardt Disease. Invest Ophthalmol Vis Sci. 2018 Jun 1;59(7):2757-2767

    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
    09/11/2018
    MGI 6.12
    The Jackson Laboratory