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Abca4
Gene Detail
Symbol

Name
ID
Abca4
ATP-binding cassette, sub-family A (ABC1), member 4
MGI:109424
Synonyms
Abc10, D430003I15Rik, Rim protein, RmP
Feature Type
protein coding gene
Genetic Map
Chromosome 3
52.94 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr3:122044443-122180061 bp, + strand
From VEGA annotation of GRCm38

  135619 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:298  Vertebrate Homology Class
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: Abca4

Human
homologs
ABCA4, ATP-binding cassette, sub-family A (ABC1), member 4
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 24
neXtProt AC: NX_P78363

Human Synonyms: ABC10, ABCR, ARMD2, CORD3, FFM, RMP, RP19, STGD, STGD1

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

Disease Associations: (4) Diseases Associated with Human ABCA4

Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Gene trapped(4) Targeted(5)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for targeted mutations that inactivate the gene display delayed rod dark adaptation and are a model for juvenile macular degeneration.
 
Human Diseases Modeled in Mice Using Abca4 (3)    Mutations Annotated to Human Diseases (1)   
Interactions
Abca4 interacts with 76 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (3 records)
Data Summary: Results (94)    Tissues (94)    Images (1)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 94
cDNA source data(30)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase abca4    NEW 
Molecular
reagents
All nucleic(32) cDNA(30) Primer pair(2)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000029911 (Evidence)
Ensembl Gene Model ENSMUSG00000028125 (Evidence)
Entrez Gene 11304 (Evidence)
UniGene 3918
DFCI TC1613009, TC1583421, TC1681459
DoTS DT.101341890, DT.101722342, DT.91419758, DT.55108177, DT.97359171
NIA Mouse Gene Index U003800
Consensus CDS Project CCDS38617.1
International Mouse Phenotyping Consortium Status Abca4
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000029911 VEGA Gene Model | MGI Sequence Detail 135619 C57BL/6J ±  kb
transcript OTTMUST00000074208 VEGA | MGI Sequence Detail 7265 Not Applicable 
polypeptide OTTMUSP00000038539 VEGA | MGI Sequence Detail 2310 Not Applicable 

For the selected sequences
All sequences(60) RefSeq(12) UniProt(3)
Polymorphisms
SNPs within 2kb(1763 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003593 AAA+ ATPase domain
InterPro IPR026082 ABC transporter A, ABCA
InterPro IPR017871 ABC transporter, conserved site
InterPro IPR003439 ABC transporter-like
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
InterPro IPR005951 Rim ABC transporter
Protein Ontology PR:000003542 retinal-specific ATP-binding cassette transporter
References
(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:221341 Lun MP, et al., Spatially heterogeneous choroid plexus transcriptomes encode positional identity and contribute to regional CSF production. J Neurosci. 2015 Mar 25;35(12):4903-16
All references(87)
Disease annotation references (6)
Other
accession IDs
MGD-MRK-38469, MGI:2139961, MGI:2444181

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/28/2015
MGI 5.22
The Jackson Laboratory