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... See more...

Aliases for ABCA4 Gene

Aliases for ABCA4 Gene

  • ATP Binding Cassette Subfamily A Member 4 2 3 5
  • Retinal-Specific Phospholipid-Transporting ATPase ABCA4 3 4
  • ATP-Binding Cassette, Sub-Family A (ABC1), Member 4 2 3
  • ATP-Binding Cassette Transporter, Retinal-Specific 2 3
  • Retinal-Specific ATP-Binding Cassette Transporter 3 4
  • 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 2 3
  • CORD3 2 3
  • ABCR 3 4
  • FFM 2 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 7.6.2.1 4
  • EC 3.6.3 51
  • ABC10 3
  • STGD1 3
  • ABCA4 5
  • RP19 3
  • STGD 3
  • RMP 3
  • RmP 4

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, and the gene product mediates transport of an essental molecule, all-trans-retinal aldehyde (atRAL), 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, Sep 2019]

GeneCards Summary for ABCA4 Gene

ABCA4 (ATP Binding Cassette Subfamily A Member 4) is a Protein Coding gene. Diseases associated with ABCA4 include Macular Degeneration, Age-Related, 2 and Stargardt Disease 1. Among its related pathways are Signaling by GPCR and Metabolism of fat-soluble vitamins. Gene Ontology (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 ABCA1.

UniProtKB/Swiss-Prot Summary for ABCA4 Gene

  • Catalyzes the translocation of specific phospholipids from the extracellular/lumenal to the cytoplasmic leaflet of membrane coupled to the hydrolysis of ATP (PubMed:24097981). Transports preferentially phosphatidylethanolamine (PubMed:24097981). 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABCA4 Gene

Genomics for ABCA4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ABCA4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J094121 Promoter/Enhancer 1.3 EPDnew Ensembl CraniofacialAtlas 600.7 -0.3 -275 1.2 GATAD2A TFE3 RCOR2 ZNF7 ZIC2 RXRB IRF2 PBX2 CEBPA KMT2B ABCA4 ARHGAP29 ARHGAP29-AS1 piR-54324-003
GH01J094055 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE dbSUPER 611.1 +65.3 65347 3.2 JUND ZNF48 EGR2 ABCA4 RF00017-276 lnc-ARHGAP29-4 GCLM
GH01J094232 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11 -115.5 -115515 7.4 ZNF221 GATAD2A PRDM10 ZNF629 CTCF ZNF174 LARP7 PRDM1 RBFOX2 RXRB ARHGAP29 CCDC18-AS1 ARHGAP29-AS1 RWDD3 ENSG00000260464 ABCA4 ABCD3 lnc-ABCA4-2
GH01J094243 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.1 -125.9 -125858 7.4 PRDM10 ZNF629 ZIC2 RBFOX2 PATZ1 EZH2 ZNF600 ZNF341 ZFX ZNF561 ARHGAP29-AS1 ABCA4 ARHGAP29
GH01J094321 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.5 -204.2 -204197 7.3 PRDM10 ZNF629 ZNF512 FOXA1 PRDM1 PATZ1 REST CTCF ZNF501 ZNF600 ENSG00000236098 ARHGAP29-AS1 ABCD3 ABCA4 ARHGAP29 F3 LOC105378859
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABCA4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABCA4

Top Transcription factor binding sites by QIAGEN in the ABCA4 gene promoter:
  • C/EBPalpha
  • En-1
  • HSF2
  • Lmo2
  • Meis-1b
  • NF-kappaB
  • NF-kappaB1
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for ABCA4 Gene

Genomic Locations for ABCA4 Gene
chr1:93,992,834-94,121,148
(GRCh38/hg38)
Size:
128,315 bases
Orientation:
Minus strand
chr1:94,458,393-94,586,705
(GRCh37/hg19)
Size:
128,313 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 phospholipid-transporting ATPase ABCA4
    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; Note=Extended N-terminus.; Evidence={ECO:0000305};

neXtProt entry for ABCA4 Gene

Selected DME Specific Peptides for ABCA4 Gene

P78363:
  • LDEPTTG
  • NGAGKTT

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:
REFSEQ proteins:

Domains & Families for ABCA4 Gene

Gene Families for ABCA4 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for ABCA4 Gene

Suggested Antigen Peptide Sequences for ABCA4 Gene

GenScript: Design optimal peptide antigens:
  • Stargardt disease protein (ABCA4_HUMAN)
  • cDNA FLJ51128, highly similar to Retinal-specific ATP-binding cassette transporter (B4DWY6_HUMAN)
  • ATP-binding cassette sub-family A member 4 (Q0QD48_HUMAN)
  • Retina-specific ABC transporter (Q86V62_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P78363

UniProtKB/Swiss-Prot:

ABCA4_HUMAN :
  • Belongs to the ABC transporter superfamily. ABCA family.
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

UniProtKB/Swiss-Prot Function:
Catalyzes the translocation of specific phospholipids from the extracellular/lumenal to the cytoplasmic leaflet of membrane coupled to the hydrolysis of ATP (PubMed:24097981). Transports preferentially phosphatidylethanolamine (PubMed:24097981). 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H(2)O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2).; EC=7.6.2.1; Evidence={ECO:0000269|PubMed:24097981};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phosphoethanolamine(in) + ATP + H2O = a 1,2-diacyl-sn-glycero-3-phosphoethanolamine(out) + ADP + H(+) + phosphate; Xref=Rhea:RHEA:36439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:64612, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:24097981};.
UniProtKB/Swiss-Prot EnzymeRegulation:
ATPase activity is decreased by cholesterol and ceramide. ATPase activity is stimulated by phosphatidylethanolamine. Phospholipids translocase activity is highly reduced by berylium fluoride and aluminum floride. N-ethylmaleimide inhibits phospholipid translocase activity.
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

Enzyme Numbers (IUBMB) for ABCA4 Gene

Phenotypes From GWAS Catalog for ABCA4 Gene

Gene Ontology (GO) - Molecular Function for ABCA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005215 transporter activity TAS 9054934
GO:0005319 lipid transporter activity IBA 21873635
GO:0005524 ATP binding IEA --
GO:0005548 phospholipid transporter activity IBA 21873635
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

  • Taconic Biosciences Mouse Models for ABCA4

CRISPR Products

miRNA for ABCA4 Gene

miRTarBase miRNAs that target ABCA4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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. Endoplasmic reticulum. Note=Localized to outer segment disk edges of rods and cones, with around one million copies/photoreceptor.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABCA4 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ABCA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0005783 endoplasmic reticulum IEA,IDA 24097981
GO:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane IEA,TAS 9054934
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ABCA4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ABCA4 Gene

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:0001523 retinoid metabolic process TAS --
GO:0006649 phospholipid transfer to membrane IEA --
GO:0006869 lipid transport IBA 21873635
GO:0007601 visual perception TAS,IEA --
GO:0007603 phototransduction, visible light TAS 9202155
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: DGIdb and Novoseek

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

(5) 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

mRNA/cDNA for ABCA4 Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCA4

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

No ASD Table

Relevant External Links for ABCA4 Gene

GeneLoc Exon Structure for
ABCA4

Expression for ABCA4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for ABCA4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABCA4

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.

Evidence on tissue expression from TISSUES for ABCA4 Gene

  • Eye(4.9)
  • Nervous system(4.6)
  • Blood(2.5)
  • Skin(2.2)
  • Kidney(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCA4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • lacrimal apparatus
  • middle ear
  • nose
  • outer ear
  • pituitary gland
  • skull
Thorax:
  • breast
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with ABCA4: view

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 30 31
  • 99.34 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ABCA4 30 31
  • 89.9 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ABCA4 30 31
  • 88.65 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Abca4 30 17 31
  • 86.47 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Abca4 30
  • 85.95 (n)
Oppossum
(Monodelphis domestica)
Mammalia ABCA4 31
  • 80 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ABCA4 31
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ABCA4 30 31
  • 70.88 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ABCA4 31
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia abca4 30
  • 67.33 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17529 30
Zebrafish
(Danio rerio)
Actinopterygii ABCA4 (4 of 4) 31
  • 67 (a)
OneToMany
abca4b 30 31
  • 66.19 (n)
OneToMany
abca4a 31
  • 64 (a)
OneToMany
CABZ01103841.1 31
  • 49 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta BG:DS00797.5 32
  • 33 (a)
CG1819 32
  • 28 (a)
Species where no ortholog for ABCA4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for ABCA4: view image

Paralogs for ABCA4 Gene

Paralogs for ABCA4 Gene

(15) SIMAP similar genes for ABCA4 Gene using alignment to 4 proteins:

  • ABCA4_HUMAN
  • B4DWY6_HUMAN
  • F5H5R2_HUMAN
  • F5H6E5_HUMAN
genes like me logo Genes that share paralogs with ABCA4: view

Variants for ABCA4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABCA4 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
635441 Likely Pathogenic: Cone-rod dystrophy 3; Stargardt disease 94,060,739(-) C/A MISSENSE_VARIANT
635493 Uncertain Significance: Cone-rod dystrophy 3 94,021,923(-) G/A MISSENSE_VARIANT
635539 Likely Pathogenic: Cone-rod dystrophy 3 94,063,196(-) C/T NONSENSE
635977 Likely Pathogenic: Retinal dystrophy 94,077,715(-) A/C MISSENSE_VARIANT
635978 Pathogenic: Stargardt disease 94,055,289(-) TC/T FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for ABCA4 Gene

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

Variant ID Type Subtype PubMed ID
nsv475023 CNV novel sequence insertion 20440878
nsv476507 CNV novel sequence insertion 20440878
nsv516137 CNV loss 19592680
nsv523430 CNV loss 19592680
nsv546849 CNV gain 21841781
nsv546850 CNV loss 21841781
nsv950517 CNV deletion 24416366

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)

Additional Variant Information for ABCA4 Gene

Human Gene Mutation Database (HGMD)
ABCA4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCA4

SNP Genotyping and Copy Number Assay Products

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

Disorders for ABCA4 Gene

MalaCards: The human disease database

(83) MalaCards diseases for ABCA4 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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:24097981, 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, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {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.

Additional Disease Information for ABCA4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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Publications for ABCA4 Gene

  1. Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants. (PMID: 19028736) Aguirre-Lamban J … Ayuso C (The British journal of ophthalmology 2009) 3 4 23 41
  2. Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4). (PMID: 11379881) Yatsenko AN … Lupski JR (Human genetics 2001) 3 4 23 41
  3. Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration. (PMID: 11346402) Guymer RH … Stone EM (Archives of ophthalmology (Chicago, Ill. : 1960) 2001) 3 4 23 41
  4. An analysis of allelic variation in the ABCA4 gene. (PMID: 11328725) Webster AR … Stone EM (Investigative ophthalmology & visual science 2001) 3 4 23 41
  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 (The British journal of ophthalmology 2009) 3 4 41

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Sources for ABCA4 Gene