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Aliases for ABCA4 Gene

Aliases for ABCA4 Gene

  • ATP Binding Cassette Subfamily A Member 4 2 3 5
  • ATP-Binding Cassette, Sub-Family A (ABC1), Member 4 2 3
  • 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
  • ABCR 3 4
  • RMP 3 4
  • 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
  • ARMD2 3
  • CORD3 3
  • STGD1 3
  • RP19 3
  • STGD 3
  • FFM 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 Subfamily A Member 4) is a Protein Coding gene. Diseases associated with ABCA4 include stargardt disease 1 and cone-rod dystrophy 3. Among its related pathways are Signaling by GPCR and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include transporter activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCA5.

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

Chromosome:
1
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

Genes around ABCA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Asn 98, Asn 415, Asn 444, Asn 504, Asn 1469, Asn 1529, Asn 1588, and Asn 1662
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCA4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for ABCA4 Gene

Gene Families for ABCA4 Gene

Protein Domains for ABCA4 Gene

Graphical View of Domain Structure for InterPro Entry

P78363

UniProtKB/Swiss-Prot:

ABCA4_HUMAN :
  • Contains 2 ABC transporter domains.
  • Belongs to the ABC transporter superfamily. ABCA family.
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:0005548 phospholipid transporter activity IEA --
genes like me logo Genes that share ontologies with ABCA4: view
genes like me logo Genes that share phenotypes with ABCA4: view

Human Phenotype Ontology for ABCA4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ABCA4 Gene

MGI Knock Outs for ABCA4:

Animal Model Products

miRNA for ABCA4 Gene

miRTarBase miRNAs that target ABCA4

No data available for Transcription Factor Targets 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 5
cytoskeleton 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ABCA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane TAS 9054934
genes like me logo Genes that share ontologies with ABCA4: view

Pathways & Interactions for ABCA4 Gene

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

Gene Ontology (GO) - Biological Process for ABCA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport IBA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ABCA4: view

No data available for SIGNOR curated interactions for ABCA4 Gene

Drugs & Compounds for ABCA4 Gene

(5) Drugs for ABCA4 Gene - From: Novoseek and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
STARGEN Pharma 0

(6) Additional Compounds for ABCA4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

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 (x24.0) and Skin - Not Sun Exposed (Suprapubic) (x4.1).

Protein differential expression in normal tissues from HIPED for ABCA4 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB 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 expression patterns with ABCA4: view

Protein tissue co-expression partners for ABCA4 Gene

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia ABCA4 36
  • 99 (a)
OneToOne
ABCA4 35
  • 99.34 (n)
  • 99.25 (a)
cow
(Bos Taurus)
Mammalia ABCA4 36
  • 89 (a)
OneToOne
ABCA4 35
  • 88.65 (n)
  • 89.34 (a)
dog
(Canis familiaris)
Mammalia ABCA4 35
  • 89.9 (n)
  • 90.5 (a)
ABCA4 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abca4 36
  • 87 (a)
OneToOne
Abca4 16
Abca4 35
  • 86.47 (n)
  • 88.46 (a)
oppossum
(Monodelphis domestica)
Mammalia ABCA4 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCA4 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abca4 35
  • 85.95 (n)
  • 88.26 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.17529 35
tropical clawed frog
(Silurana tropicalis)
Amphibia abca4 35
  • 67.33 (n)
  • 68.79 (a)
zebrafish
(Danio rerio)
Actinopterygii ABCA4 (4 of 4) 36
  • 67 (a)
OneToMany
abca4a 36
  • 64 (a)
OneToMany
abca4b 36
  • 62 (a)
OneToMany
CABZ01103841.1 36
  • 49 (a)
OneToMany
abca4b 35
  • 66.19 (n)
  • 65.85 (a)
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

Sequence variations from dbSNP and Humsavar for ABCA4 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs61754030 - 94,048,910(-) CCCTA(A/G)CAGAG reference, missense
rs58331765 Stargardt disease 1 (STGD1) 94,047,046(+) CTTCA(C/T)GCATA reference, missense
rs1801581 - 94,047,009(-) TGGCC(A/G/T)GCCAG reference, missense
VAR_008429 Stargardt disease 1 (STGD1)
VAR_008430 Stargardt disease 1 (STGD1)

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

Variation tolerance for ABCA4 Gene

Residual Variation Intolerance Score: 99.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.17; 93.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABCA4 Gene

HapMap Linkage Disequilibrium report
ABCA4
Human Gene Mutation Database (HGMD)
ABCA4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCA4 Gene

Disorders for ABCA4 Gene

MalaCards: The human disease database

(31) MalaCards diseases for ABCA4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
stargardt disease 1
  • fundus flavimaculatus
cone-rod dystrophy 3
  • cord3
macular degeneration, age-related, 2
  • age-related macular degeneration 2
retinitis pigmentosa 19
  • rp 19
stargardt disease
  • stargardt disease 1
- elite association - COSMIC cancer census association via MalaCards
Search ABCA4 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for ABCA4

Genetic Association Database (GAD)
ABCA4
Human Genome Epidemiology (HuGE) Navigator
ABCA4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. 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 67
  2. Novel mutations in of the ABCR gene in Italian patients with Stargardt disease. (PMID: 19265867) Passerini I. … Torricelli F. (Eye (Lond) 2010) 3 23
  3. Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene. (PMID: 19959634) Aguirre-Lamban J. … Ayuso C. (Invest. Ophthalmol. Vis. Sci. 2010) 3 23
  4. Different patterns of fundus autofluorescence related to ABCA4 gene mutations in Stargardt disease. (PMID: 20128570) Sodi A. … Torricelli F. (Ophthalmic Surg Lasers Imaging 2010) 3 23
  5. Outcome of ABCA4 microarray screening in routine clinical practice. (PMID: 20029649) Ernest P.J. … Hoyng C.B. (Mol. Vis. 2009) 3 23

Products for ABCA4 Gene

Sources for ABCA4 Gene

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