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Aliases for ABCA4 Gene

Aliases for ABCA4 Gene

  • ATP-Binding Cassette, Sub-Family A (ABC1), Member 4 2 3
  • ABCR 3 4 6
  • ATP-Binding Cassette Transporter, Retinal-Specific 2 3
  • ATP-Binding Cassette Sub-Family A Member 4 3 4
  • Stargardt Disease Protein 3 4
  • RIM ABC Transporter 3 4
  • RIM Protein 3 4
  • ARMD2 3 6
  • CORD3 3 6
  • STGD1 3 6
  • RP19 3 6
  • RMP 3 4
  • FFM 3 6
  • Retinal-Specific ATP-Binding Cassette Transporter 3
  • ATP-Binding Transporter, Retina-Specific 3
  • ATP Binding Cassette Transporter 3
  • Retina-Specific ABC Transporter 3
  • Photoreceptor Rim Protein 3
  • Stargardt Disease 2
  • EC 3.6.3 63
  • ABC10 3
  • STGD 3

External Ids for ABCA4 Gene

Previous HGNC Symbols for ABCA4 Gene

  • STGD1
  • ABCR
  • RP19
  • STGD

Previous GeneCards Identifiers for ABCA4 Gene

  • GC01M094859
  • GC01M093664
  • GC01M093808
  • GC01M093930
  • GC01M094170
  • GC01M094230
  • GC01M094458
  • GC01M092582

Summaries for ABCA4 Gene

Entrez Gene Summary for ABCA4 Gene

  • The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq, Jul 2008]

GeneCards Summary for ABCA4 Gene

ABCA4 (ATP-Binding Cassette, Sub-Family A (ABC1), Member 4) is a Protein Coding gene. Diseases associated with ABCA4 include stargardt disease 1 and retinitis pigmentosa 19. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include transporter activity and phospholipid-translocating ATPase activity. An important paralog of this gene is ABCA3.

UniProtKB/Swiss-Prot for ABCA4 Gene

  • In the visual cycle, acts as an inward-directed retinoid flipase, retinoid substrates imported by ABCA4 from the extracellular or intradiscal (rod) membrane surfaces to the cytoplasmic membrane surface are all-trans-retinaldehyde (ATR) and N-retinyl-phosphatidyl-ethanolamine (NR-PE). Once transported to the cytoplasmic surface, ATR is reduced to vitamin A by trans-retinol dehydrogenase (tRDH) and then transferred to the retinal pigment epithelium (RPE) where it is converted to 11-cis-retinal. May play a role in photoresponse, removing ATR/NR-PE from the extracellular photoreceptor surfaces during bleach recovery.

Gene Wiki entry for ABCA4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCA4 Gene

Genomics for ABCA4 Gene

Regulatory Elements for ABCA4 Gene

Genomic Location for ABCA4 Gene

Start:
93,992,835 bp from pter
End:
94,121,149 bp from pter
Size:
128,315 bases
Orientation:
Minus strand

Genomic View for ABCA4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ABCA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCA4 Gene

Proteins for ABCA4 Gene

  • Protein details for ABCA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78363-ABCA4_HUMAN
    Recommended name:
    Retinal-specific ATP-binding cassette transporter
    Protein Accession:
    P78363
    Secondary Accessions:
    • O15112
    • O60438
    • O60915
    • Q0QD48
    • Q4LE31

    Protein attributes for ABCA4 Gene

    Size:
    2273 amino acids
    Molecular mass:
    255944 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAE06122.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for ABCA4 Gene

Proteomics data for ABCA4 Gene at MOPED

Selected DME Specific Peptides for ABCA4 Gene

Post-translational modifications for ABCA4 Gene

  • Glycosylation at Asn98, Asn415, Asn444, Asn504, Asn1469, Asn1529, Asn1588, and Asn1662
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCA4 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

Domains for ABCA4 Gene

Gene Families for ABCA4 Gene

HGNC:
  • ABCA :ATP binding cassette transporters / subfamily A
IUPHAR :

Protein Domains for ABCA4 Gene

Graphical View of Domain Structure for InterPro Entry

P78363

UniProtKB/Swiss-Prot:

ABCA4_HUMAN :
  • P78363
Domain:
  • Contains 2 ABC transporter domains.
Family:
  • Belongs to the ABC transporter superfamily. ABCA family.
genes like me logo Genes that share domains with ABCA4: view

Function for ABCA4 Gene

Molecular function for ABCA4 Gene

GENATLAS Biochemistry:
ATP binding cassette superfamily,subfamily A,member 4,retinal specific,localized to the rim of rod phosphoreceptor outer segment discs (RMP protein) cell-specific ATP binding transporter gene
UniProtKB/Swiss-Prot Function:
In the visual cycle, acts as an inward-directed retinoid flipase, retinoid substrates imported by ABCA4 from the extracellular or intradiscal (rod) membrane surfaces to the cytoplasmic membrane surface are all-trans-retinaldehyde (ATR) and N-retinyl-phosphatidyl-ethanolamine (NR-PE). Once transported to the cytoplasmic surface, ATR is reduced to vitamin A by trans-retinol dehydrogenase (tRDH) and then transferred to the retinal pigment epithelium (RPE) where it is converted to 11-cis-retinal. May play a role in photoresponse, removing ATR/NR-PE from the extracellular photoreceptor surfaces during bleach recovery.

Enzyme Numbers (IUBMB) for ABCA4 Gene

Gene Ontology (GO) - Molecular Function for ABCA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004012 phospholipid-translocating ATPase activity IEA --
GO:0005215 transporter activity TAS 9054934
GO:0005524 ATP binding IEA --
GO:0005548 phospholipid transporter activity IBA --
GO:0016887 ATPase activity --
genes like me logo Genes that share ontologies with ABCA4: view
genes like me logo Genes that share phenotypes with ABCA4: view

Animal Models for ABCA4 Gene

MGI Knock Outs for ABCA4:

Animal Model Products

miRNA for ABCA4 Gene

miRTarBase miRNAs that target ABCA4

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ABCA4

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for ABCA4 Gene

Localization for ABCA4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCA4 Gene

Membrane; Multi-pass membrane protein. Note=Localized to outer segment disk edges of rods and cones, with around one million copies/photoreceptor.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ABCA4 Gene COMPARTMENTS Subcellular localization image for ABCA4 gene
Compartment Confidence
plasma membrane 3
lysosome 1

Gene Ontology (GO) - Cellular Components for ABCA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane TAS 9054934
GO:0043231 intracellular membrane-bounded organelle IBA --
GO:0097381 photoreceptor disc membrane TAS --
genes like me logo Genes that share ontologies with ABCA4: view

Pathways for ABCA4 Gene

genes like me logo Genes that share pathways with ABCA4: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for ABCA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0006200 obsolete ATP catabolic process --
GO:0006649 phospholipid transfer to membrane IEA --
GO:0006810 transport TAS 9054934
GO:0007601 visual perception IEA --
genes like me logo Genes that share ontologies with ABCA4: view

Compounds for ABCA4 Gene

(10) Novoseek inferred chemical compound relationships for ABCA4 Gene

Compound -log(P) Hits PubMed IDs
11-cis-retinol 71.2 1
retinoid 48.5 7
atp 31.4 19
phosphatidylethanolamine 28.9 3
vitamin a 21.8 4
genes like me logo Genes that share compounds with ABCA4: view

Transcripts for ABCA4 Gene

Unigene Clusters for ABCA4 Gene

ATP-binding cassette, sub-family A (ABC1), member 4:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ABCA4

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABCA4 Gene

No ASD Table

Relevant External Links for ABCA4 Gene

GeneLoc Exon Structure for
ABCA4
ECgene alternative splicing isoforms for
ABCA4

Expression for ABCA4 Gene

mRNA expression in normal human tissues for ABCA4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ABCA4 Gene

This gene is overexpressed in Kidney - Cortex (24.0) and Skin - Not Sun Exposed (Suprapubic) (4.1).

Protein differential expression in normal tissues for ABCA4 Gene

This gene is overexpressed in Retina (61.0) and Monocytes (7.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ABCA4 Gene

SOURCE GeneReport for Unigene cluster for ABCA4 Gene Hs.416707

mRNA Expression by UniProt/SwissProt for ABCA4 Gene

P78363-ABCA4_HUMAN
Tissue specificity: Retinal-specific. Seems to be exclusively found in the rims of rod photoreceptor cells
genes like me logo Genes that share expressions with ABCA4: view

Expression partners for ABCA4 Gene

In Situ Assay Products

Orthologs for ABCA4 Gene

This gene was present in the common ancestor of animals.

Orthologs for ABCA4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ABCA4 35
  • 88.65 (n)
  • 89.34 (a)
ABCA4 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCA4 35
  • 89.9 (n)
  • 90.5 (a)
ABCA4 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abca4 35
  • 86.47 (n)
  • 88.46 (a)
Abca4 16
Abca4 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ABCA4 35
  • 99.34 (n)
  • 99.25 (a)
ABCA4 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abca4 35
  • 85.95 (n)
  • 88.26 (a)
oppossum
(Monodelphis domestica)
Mammalia ABCA4 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCA4 36
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABCA4 35
  • 70.88 (n)
  • 72.42 (a)
ABCA4 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABCA4 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abca4 35
  • 67.33 (n)
  • 68.79 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17529 35
zebrafish
(Danio rerio)
Actinopterygii abca4b 35
  • 66.19 (n)
  • 65.85 (a)
ABCA4 (4 of 4) 36
  • 67 (a)
OneToMany
abca4a 36
  • 64 (a)
OneToMany
abca4b 36
  • 62 (a)
OneToMany
CABZ01103841.1 36
  • 49 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta BG:DS00797.5 37
  • 33 (a)
CG1819 37
  • 28 (a)
Species with no ortholog for ABCA4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ABCA4 Gene

ENSEMBL:
Gene Tree for ABCA4 (if available)
TreeFam:
Gene Tree for ABCA4 (if available)

Paralogs for ABCA4 Gene

Paralogs for ABCA4 Gene

genes like me logo Genes that share paralogs with ABCA4: view

Variants for ABCA4 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ABCA4 Gene

P78363-ABCA4_HUMAN
The variant Ala-863 is present in the general population at a frequency of approximately 3% and 1% in Northern Europe and United States, respectively. It is a mild alteration probably leading to STGD phenotype only in combination with a more severe allele. The variant Glu-1961 is found with high frequency in healthy individuals of Somali ancestry

Sequence variations from dbSNP and Humsavar for ABCA4 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs472908 untested 94,021,798(+) TGGTA(A/G)TTAAG intron-variant
rs479110 -- 94,087,038(-) GACAC(A/G)GAGAG intron-variant
rs481290 -- 94,087,536(-) CAGGG(A/G)CCAGG intron-variant
rs481588 -- 94,018,572(+) TATTC(A/C)CCATC intron-variant
rs481931 -- 94,104,460(-) AGGGG(A/C)AGGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ABCA4 Gene

Variant ID Type Subtype PubMed ID
nsv516137 CNV Loss 19592680
nsv871172 CNV Gain 21882294
nsv871057 CNV Gain 21882294
dgv267n71 CNV Gain 21882294
dgv268n71 CNV Loss 21882294
dgv269n71 CNV Loss 21882294
nsv871679 CNV Loss 21882294
nsv523430 CNV Loss 19592680

Relevant External Links for ABCA4 Gene

HapMap Linkage Disequilibrium report
ABCA4
Human Gene Mutation Database (HGMD)
ABCA4
Locus Specific Mutation Databases (LSDB)
ABCA4

Disorders for ABCA4 Gene

(5) OMIM Diseases for ABCA4 Gene (601691)

UniProtKB/Swiss-Prot

ABCA4_HUMAN
  • Stargardt disease 1 (STGD1) [MIM:248200]: A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. {ECO:0000269 PubMed:10090887, ECO:0000269 PubMed:10206579, ECO:0000269 PubMed:10612508, ECO:0000269 PubMed:10634594, ECO:0000269 PubMed:10711710, ECO:0000269 PubMed:10746567, ECO:0000269 PubMed:10958763, ECO:0000269 PubMed:11328725, ECO:0000269 PubMed:11385708, ECO:0000269 PubMed:11527935, ECO:0000269 PubMed:11594993, ECO:0000269 PubMed:18977788, ECO:0000269 PubMed:24444108, ECO:0000269 PubMed:9054934, ECO:0000269 PubMed:9490294, ECO:0000269 PubMed:9503029, ECO:0000269 PubMed:9781034, ECO:0000269 PubMed:9973280}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Fundus flavimaculatus (FFM) [MIM:248200]: Autosomal recessive retinal disorder very similar to Stargardt disease. In contrast to Stargardt disease, FFM is characterized by later onset and slowly progressive course. {ECO:0000269 PubMed:11379881, ECO:0000269 PubMed:11385708, ECO:0000269 PubMed:9781034}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. {ECO:0000269 PubMed:19028736, ECO:0000269 PubMed:9295268}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Cone-rod dystrophy 3 (CORD3) [MIM:604116]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. {ECO:0000269 PubMed:10958761, ECO:0000269 PubMed:11385708, ECO:0000269 PubMed:11527935}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Retinitis pigmentosa 19 (RP19) [MIM:601718]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP19 is characterized by choroidal atrophy. Note=The disease is caused by mutations affecting the gene represented in this entry.

(15) Novoseek inferred disease relationships for ABCA4 Gene

Disease -log(P) Hits PubMed IDs
stargardts disease 98.9 115
stgd1 96.5 29
cone-rod dystrophy 96.2 40
fundus flavimaculatus 95.7 19
retinitis pigmentosa 86.3 41

Relevant External Links for ABCA4

Genetic Association Database (GAD)
ABCA4
Human Genome Epidemiology (HuGE) Navigator
ABCA4
genes like me logo Genes that share disorders with ABCA4: view

No data available for Genatlas for ABCA4 Gene

Publications for ABCA4 Gene

  1. Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease. (PMID: 9490294) Nasonkin I. … Weber B.H.F. (Hum. Genet. 1998) 2 3 4 23
  2. An analysis of allelic variation in the ABCA4 gene. (PMID: 11328725) Webster A.R. … Stone E.M. (Invest. Ophthalmol. Vis. Sci. 2001) 3 4 23 48
  3. Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration. (PMID: 11346402) Guymer R.H. … Stone E.M. (Arch. Ophthalmol. 2001) 3 4 23 48
  4. Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4). (PMID: 11379881) Yatsenko A.N. … Lupski J.R. (Hum. Genet. 2001) 3 4 23 48
  5. Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease. (PMID: 18977788) Riveiro-Alvarez R. … Ayuso C. (Br. J. Ophthalmol. 2009) 3 4 23 48

Products for ABCA4 Gene

Sources for ABCA4 Gene

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