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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
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:122044443-122180123 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 52.94 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1761 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109424
protein coding gene Chr3:122043891-122180123 (.)
129S1/SvImJ MGP_129S1SvImJ_G0027836
protein coding gene Chr3:124273191-124425323 (+)
A/J MGP_AJ_G0027794
protein coding gene Chr3:120130962-120268756 (+)
AKR/J MGP_AKRJ_G0027760
protein coding gene Chr3:123192245-123330994 (+)
BALB/cJ MGP_BALBcJ_G0027806
protein coding gene Chr3:119936851-120074699 (+)
C3H/HeJ MGP_C3HHeJ_G0027537
protein coding gene Chr3:123582330-123724293 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028252
protein coding gene Chr3:128777523-128931646 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025591
protein coding gene Chr3:115549614-115699791 (+)
CAST/EiJ MGP_CASTEiJ_G0026993
protein coding gene Chr3:122966217-123121281 (+)
CBA/J MGP_CBAJ_G0027512
protein coding gene Chr3:133156833-133317976 (+)
DBA/2J MGP_DBA2J_G0027653
protein coding gene Chr3:119274973-119414105 (+)
FVB/NJ MGP_FVBNJ_G0027621
protein coding gene Chr3:116877892-117016372 (+)
LP/J MGP_LPJ_G0027763
protein coding gene Chr3:125799610-125941650 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027651
protein coding gene Chr3:140739912-140881317 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028308
protein coding gene Chr3:122740546-122883969 (+)
PWK/PhJ MGP_PWKPhJ_G0026719
protein coding gene Chr3:118974149-119116398 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026542
protein coding gene Chr3:120841685-120979050 (+)
WSB/EiJ MGP_WSBEiJ_G0027073
protein coding gene Chr3:123462337-123612429 (+)



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
less
  • Phenotype Summary
    14 phenotypes from 4 alleles in 6 genetic backgrounds
    15 phenotypes from multigenic genotypes
    85 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
less
  • 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 population 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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000028125 Ensembl Gene Model | MGI Sequence Detail 135681 C57BL/6J ±  kb
    transcript ENSMUST00000013995 Ensembl | MGI Sequence Detail 7263 Not Applicable  
    polypeptide ENSMUSP00000013995 Ensembl | MGI Sequence Detail 2310 Not Applicable  
    For the selected sequence
    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 120
      Developmental Gene Expression 4
      Diseases 6
      Gene Ontology 9
      Phenotypes 85
    • 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:265537 Kaur G, et al., Aberrant early endosome biogenesis mediates complement activation in the retinal pigment epithelium in models of macular degeneration. Proc Natl Acad Sci U S A. 2018 Sep 4;115(36):9014-9019

    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
    12/04/2018
    MGI 6.13
    The Jackson Laboratory