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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
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

  • Chr Location
    1p22; chr1:93992837-94121149 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 298
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • 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
       Cone-Rod Dystrophy 3; CORD3   OMIM: 604116 View 2 models
Retinitis Pigmentosa 19; RP19   OMIM: 601718 View 2 models
Stargardt Disease 1; STGD1   OMIM: 248200 View 3 models
       Macular Degeneration, Age-Related, 2; ARMD2   OMIM: 153800 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    8 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    16 phenotypes from 3 alleles in 6 genetic backgrounds
    14 phenotypes from multigenic genotypes
    68 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
    12
  • Chemically induced (other)
    1
  • Gene trapped
    4
  • Radiation induced
    1
  • Targeted
    6
  • Genomic Mutations
    2 involving Abca4
  • Incidental Mutations
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
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 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
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  • SNPs within 2kb
    1761 from dbSNP Build 142
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000003542 retinal-specific ATP-binding cassette transporter
  • InterPro Domains
    IPR003593 AAA+ ATPase domain
    IPR026082 ABC transporter A, ABCA
    IPR017871 ABC transporter, conserved site
    IPR003439 ABC transporter-like
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
    IPR005951 Retinal-specific ATP-binding cassette transporter
Molecular
Reagents
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  • All nucleic 32
    cDNA 30
    Primer pair 2

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-38469, MGI:2139961, MGI:2444181
References
more
  • Summaries
    All 98
    Developmental Gene Expression 4
    Diseases 8
    Gene Ontology 7
    Phenotypes 68
  • 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:230948 Schur RM, et al., Manganese-Enhanced MRI for Preclinical Evaluation of Retinal Degeneration Treatments. Invest Ophthalmol Vis Sci. 2015 Jul;56(8):4936-42

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
06/22/2016
MGI 6.04
The Jackson Laboratory