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Abca4 Gene Detail
Summary
  • Symbol
    Abca4
  • Name
    ATP-binding cassette, sub-family A member 4
  • Synonyms
    Abc10, D430003I15Rik, Rim protein, RmP
  • Feature Type
    protein coding gene
  • IDs
    MGI:109424
    NCBI Gene: 11304
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:121838092-121973772 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 52.94 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    4281 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 Chr3:121837547-121973772 (+)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ABCA4, ATP binding cassette subfamily A member 4
  • 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; chr1:93992834-94121148 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with Abca4 mouse models; 7 with human ABCA4 associations

Human Disease Mouse Models
      
IDs
 View 2 models
IDs
 View 2 models
      
IDs
 View 5 models
      
IDs
 View 1 model
IDs
IDs
IDs
IDs
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
    13 phenotypes from 4 alleles in 6 genetic backgrounds
    15 phenotypes from multigenic genotypes
    127 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.
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
    42
  • GO References
    13
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
membraneless 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
    808
  • Tissues
    100
  • cDNA Data
    31
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000003542 retinal-specific phospholipid-transporting ATPase ABCA4
      (term hierarchy)
    • EC
      7.6.2.1
    • InterPro Domains
      IPR003593 AAA+ ATPase domain
      IPR013525 ABC-2 type transporter, transmembrane domain
      IPR026082 ABC transporter A
      IPR003439 ABC transporter-like, ATP-binding domain
      IPR017871 ABC transporter-like, conserved site
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
      IPR005951 Retinal-specific ATP-binding cassette transporter
    • GlyGen
      O35600 8 sites, 8 N-linked glycans (6 sites)
    Molecular
    Reagents
    less
    • All nucleic 35
      cDNA 31
      Primer pair 4

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-38469, MGI:2139961, MGI:2444181
    References
    more
    • Summaries
      All 169
      Developmental Gene Expression 5
      Diseases 6
      Gene Ontology 13
      Phenotypes 127
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory