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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ABCA4 Gene

protein-coding   GIFtS: 61
GCID: GC01M094458

ATP-Binding Cassette, Sub-Family A (ABC1), Member 4

(Previous names: ATP-binding cassette transporter, retinal-specific)
(Previous symbols: STGD1, ABCR, RP19, STGD)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
ATP-Binding Cassette, Sub-Family A (ABC1), Member 41 2     FFM2 5
ABCR1 2 3 5     Stargardt Disease1
RP191 2 5     ABC102
STGD11 2 5     RMP2
STGD1 2     ATP Binding Cassette Transporter2
ATP-Binding Cassette Transporter, Retinal-Specific1 2     ATP-Binding Transporter, Retina-Specific2
Stargardt Disease Protein2 3     Photoreceptor Rim Protein2
ATP-Binding Cassette Sub-Family A Member 42 3     Retina-Specific ABC Transporter2
RIM ABC Transporter2 3     Retinal-Specific ATP-Binding Cassette Transporter2
RIM Protein2 3     RmP3
ARMD22 5     EC 3.6.38
CORD32 5     

External Ids:    HGNC: 341   Entrez Gene: 242   Ensembl: ENSG000001986917   OMIM: 6016915   UniProtKB: P783633   

Export aliases for ABCA4 gene to outside databases

Previous GC identifers: GC01M094859 GC01M093664 GC01M093808 GC01M093930 GC01M094170 GC01M094230 GC01M092582


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and stargardt macular degeneration, and among its related super-pathways are ABC-family proteins mediated transport and Retinoid metabolism and transport. GO annotations related to this gene include phospholipid-translocating ATPase activity and transporter activity. An important paralog of this gene is ABCG1.

UniProtKB/Swiss-Prot: ABCA4_HUMAN, P78363
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

Gene Wiki entry for ABCA4 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ABCA4 gene promoter:
         STAT1   Lmo2   STAT1beta   NF-kappaB   Meis-1b   C/EBPalpha   STAT1alpha   HSF2   NF-kappaB1   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidABCA4 promoter sequence
   Search SABiosciences Chromatin IP Primers for ABCA4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABCA4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p22   Ensembl cytogenetic band:  1p22.1   HGNC cytogenetic band: 1p22

ABCA4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCA4 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M094458:  view genomic region     (about GC identifiers)

Start:
94,458,393 bp from pter      End:
94,586,705 bp from pter
Size:
128,313 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ABCA4_HUMAN, P78363 (See protein sequence)
Recommended Name: Retinal-specific ATP-binding cassette transporter  
Size: 2273 amino acids; 255944 Da
Subcellular location: Membrane; Multi-pass membrane protein. Note=Localized to outer segment disk edges of rods
and cones, with around one million copies/photoreceptor
Sequence caution: Sequence=BAE06122.1; Type=Erroneous initiation;
Secondary accessions: O15112 O60438 O60915 Q4LE31

Explore the universe of human proteins at neXtProt for ABCA4: NX_P78363

Explore proteomics data for ABCA4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P78363

  • 2 DME Specific Peptides for ABCA4 (P78363)
     LDEPTTG  NGAGKTT 

    ABCA4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ABCA4 Protein Expression
    REFSEQ proteins: NP_000341.2  
    ENSEMBL proteins: 
     ENSP00000359245   ENSP00000439707   ENSP00000443203   ENSP00000437682  
    Reactome Protein details: P78363
    Human Recombinant Protein Products for ABCA4: 
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    Novus Biologicals ABCA4 Protein
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ABCA4 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral to plasma membrane IEA--
    GO:0016020membrane TAS9054934
    GO:0097381photoreceptor disc membrane TAS--

    ABCA4 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ABCA: ATP binding cassette transporters / subfamily A

    IUPHAR Guide to PHARMACOLOGY protein family classification: ABCA4 
    ABCA subfamily

    5/6 InterPro protein domains (see all 6):
     IPR003439 ABC_transporter-like
     IPR027417 P-loop_NTPase
     IPR005951 Rim_ABC_transpt
     IPR003593 AAA+_ATPase
     IPR026082 ABC_A

    Graphical View of Domain Structure for InterPro Entry P78363

    ProtoNet protein and cluster: P78363

    UniProtKB/Swiss-Prot: ABCA4_HUMAN, P78363
    Similarity: Belongs to the ABC transporter superfamily. ABCA family
    Similarity: Contains 2 ABC transporter domains


    ABCA4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ABCA4_HUMAN, P78363
    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

         Genatlas biochemistry entry for ABCA4:
    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 Number (IUBMB): EC 3.6.32

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0004012phospholipid-translocating ATPase activity IEA--
    GO:0005215transporter activity TAS9054934
    GO:0005524ATP binding IEA--
    GO:0005548phospholipid transporter activity ----
         
    ABCA4 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Abca4):
     cardiovascular system  homeostasis/metabolism  nervous system  no phenotypic analysis  pigmentation 
     vision/eye 

    ABCA4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ABCA4: Abca4tm1Kpal Abca4tm1Ght

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ABCA4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ABCA4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ABCA4 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ABCA4 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ABCA4
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate ABCA4:
    hsa-miR-194* hsa-miR-125a-3p
    SwitchGear 3'UTR luciferase reporter plasmidABCA4 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCA4


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ABCA4 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1ABC-family proteins mediated transport
    ABC-family proteins mediated transport0.70
    ABC transporters0.70
    2Visual phototransduction
    Visual phototransduction0.48
    Diseases associated with visual transduction0.47
    3Signaling by GPCR
    Signal Transduction0.55
    4SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50
    5the visual cycle I (vertebrates)
    The canonical retinoid cycle in rods (twilight vision)0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/7        Reactome Pathways for ABCA4 (see all 7)
        ABC-family proteins mediated transport
    Diseases associated with visual transduction
    Transmembrane transport of small molecules
    Signal Transduction
    The canonical retinoid cycle in rods (twilight vision)


    1         Kegg Pathway  (Kegg details for ABCA4):
        ABC transporters


    ABCA4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ABCA4

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for ABCA4 (P783633 ENSP000003592454) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CNGB1Q140283, ENSP000002511024I2D: score=2 STRING: ENSP00000251102
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001523retinoid metabolic process TAS--
    GO:0006649phospholipid transfer to membrane IEA--
    GO:0006810transport TAS9054934
    GO:0007601visual perception IEA--
    GO:0007603phototransduction, visible light TAS--

    ABCA4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ABCA4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ABCA4

    10 Novoseek inferred chemical compound relationships for ABCA4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    11-cis-retinol 71.2 1 15928609 (1)
    retinoid 48.5 13 15471866 (3), 14709597 (2), 15696369 (1), 19306869 (1)
    atp 31.4 21 15471866 (4), 10874631 (2), 12888572 (2), 11687513 (2) (see all 11)
    phosphatidylethanolamine 28.9 6 15471866 (2), 10412977 (1)
    vitamin a 21.8 4 15471866 (1), 19494204 (1), 15928609 (1), 18515570 (1)
    cholesterol 0 1 17029687 (1)
    gtp 0 1 15471866 (1)
    phospholipid 0 1 15044640 (1)
    lipid 0 2 17973979 (1), 12962493 (1)
    adp 0 3 12888572 (2), 15471866 (1)

    Search CenterWatch for drugs/clinical trials and news about ABCA4

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ABCA4 gene: 
    NM_000350.2  

    Unigene Cluster for ABCA4:

    ATP-binding cassette, sub-family A (ABC1), member 4
    Hs.416707  [show with all ESTs]
    Unigene Representative Sequence: NM_000350
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370225(uc001dqh.3) ENST00000465352(uc001dqi.1) ENST00000484388
    ENST00000470771 ENST00000460514 ENST00000472033 ENST00000536513(uc009wdp.1)
    ENST00000535881 ENST00000535735(uc010otn.1)
    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate ABCA4:
    hsa-miR-194* hsa-miR-125a-3p
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    Additional mRNA sequence: 

    AB210040.1 AF000148.1 AF001945.1 AK295818.1 AK296896.1 AK301733.1 AK301764.1 CR627391.1 
    DQ426859.1 U88667.1 

    12 DOTS entries:

    DT.314419  DT.97821623  DT.40115469  DT.314422  DT.121400333  DT.314421  DT.40255320  DT.121400340 
    DT.40270936  DT.97765193  DT.97843252  DT.40116675 

    24/108 AceView cDNA sequences (see all 108):

    BX092191 BM690592 BM694900 AI827761 AI564136 H85972 BM687039 AL713451 
    CA394887 BU726996 CA391240 BQ637768 AA905109 CR627391 BQ639783 CA390557 
    BQ637957 BX473757 AA613174 AI128615 CA398100 BU740200 AI932378 BU731300 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ABCA4 expression in normal human tissues (normalized intensities)      ABCA4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAAAATAAA
    ABCA4 Expression
    About this image


    ABCA4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Eye (Sensory Organs)
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Bone (Muscoskeletal System)
             Zeugopod Periosteum
     
     Skeletal Muscle (Muscoskeletal System)
             Extraocular Muscles
     
     Choroid Plexus (Nervous System)
             Mature Choroid Plexus Cells Choroid Plexus
     
     Brain (Nervous System)
             Mature Choroid Plexus Cells Choroid Plexus

    See ABCA4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABCA4

    SOURCE GeneReport for Unigene cluster: Hs.416707

    UniProtKB/Swiss-Prot: ABCA4_HUMAN, P78363
    Tissue specificity: Retinal-specific. Seems to be exclusively found in the rims of rod photoreceptor cells

        SABiosciences Expression via Pathway-Focused PCR Array including ABCA4: 
              Drug Transporters in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCA4

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ABCA4 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abca41 , 5 ATP-binding cassette, sub-family A (ABC1), member 41, 5 86.48(n)1
    88.46(a)1
      3 (52.94 cM)5
    113041  NM_007378.11  NP_031404.11 
     1220444435 
    chicken
    (Gallus gallus)
    Aves ABCA41 ATP-binding cassette, sub-family A (ABC1), member 4 70.89(n)
    72.44(a)
      424490  XM_422330.3  XP_422330.3 
    lizard
    (Anolis carolinensis)
    Reptilia ABCA46
    Uncharacterized protein
    70(a)
    1 ↔ 1
    4(88728876-88858884)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.175292 Xenopus laevis transcribed sequence with moderate similarity more 75.03(n)    CD328284.1 
    zebrafish
    (Danio rerio)
    Actinopterygii abca4b1 ATP-binding cassette, sub-family A (ABC1), member 4b 66.43(n)
    65.95(a)
      555506  XM_678031.5  XP_683123.5 
    worm
    (Caenorhabditis elegans)
    Secernentea abt-21 Protein ABT-2 46.09(n)
    36.11(a)
      171782  NM_058548.5  NP_490949.3 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ABCA4 gene
    ABCG12  ABCA102  ABCA132  ABCA32  ABCG82  ABCA22  ABCA62  ABCA52  
    ABCG22  ABCA12  ABCA82  ABCG42  ABCA122  ABCA72  ABCG52  ABCA92  
    16 SIMAP similar genes for ABCA4 using alignment to 5 protein entries:     ABCA4_HUMAN (see all proteins):
    DKFZp781N1972    DKFZp547P193    ABC1    DKFZp434E1030    ABCA2    ABCA1
    ABCA7    ABC2    ABCA13    ABCA12    NG-TRA    ABCA5
    ABCA8    ABCA9    ABCG2    ABCA3

    ABCA4 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: ABCA4_HUMAN, P78363
    Polymorphism: 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


    10/4121 SNPs in ABCA4 are shown (see all 4121)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0084824
    Stargardt disease 1 (STGD1)4--see VAR_0084822 R W mis40--------
    VAR_0084514
    Stargardt disease 1 (STGD1)4--see VAR_0084512 F S mis40--------
    VAR_0084484
    Stargardt disease 1 (STGD1)4--see VAR_0084482 V A mis40--------
    VAR_0125484
    Stargardt disease 1 (STGD1)4--see VAR_0125482 T N mis40--------
    VAR_0125024
    Stargardt disease 1 (STGD1)4--see VAR_0125022 S P mis40--------
    VAR_0084414
    Stargardt disease 1 (STGD1)4--see VAR_0084412 D N mis40--------
    VAR_0084374
    Stargardt disease 1 (STGD1)4--see VAR_0084372 T N mis40--------
    VAR_0125334
    Stargardt disease 1 (STGD1)4--see VAR_0125332 S R mis40--------
    VAR_0125554
    Stargardt disease 1 (STGD1)4--see VAR_0125552 E K mis40--------
    VAR_0084774
    Stargardt disease 1 (STGD1)4--see VAR_0084772 G S mis40--------

    HapMap Linkage Disequilibrium report for ABCA4 (94458393 - 94586705 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for ABCA4:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv523430CNV Loss19592680
    dgv268n71CNV Loss21882294
    dgv269n71CNV Loss21882294
    nsv516137CNV Loss19592680
    nsv871679CNV Loss21882294
    dgv267n71CNV Gain21882294
    nsv871057CNV Gain21882294
    nsv871172CNV Gain21882294


    Human Gene Mutation Database (HGMD): ABCA4

    Locus Specific Mutation Databases (LSDB): ABCA4
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ABCA4
    DNA2.0 Custom Variant and Variant Library Synthesis for ABCA4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601691   
    OMIM disorders: 248200  601718  604116  153800  
    UniProtKB/Swiss-Prot: ABCA4_HUMAN, P78363
  • 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. 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Age-related macular degeneration 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. 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. 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

  • 20/50 diseases for ABCA4 (see all 50):    About MalaCards
    stargardt disease    stargardt macular degeneration    stargardt disease, autosomal recessive    abca4-related stargardt disease 1
    stargardt disease-1    retinitis pigmentosa 19    abca4-related retinitis pigmentosa    age-related macular degeneration 2
    cone-rod dystrophy 3    macular degeneration    retinal dystrophy, early-onset, severe    cone-rod dystrophy 5
    cone-rod dystrophy    retinitis pigmentosa 3    congenital toxoplasmosis    toxoplasmosis
    partial central choroid dystrophy    rhyns syndrome    scotoma    age related macular degeneration

    7 diseases from the University of Copenhagen DISEASES database for ABCA4:
    Retinal degeneration     Scotoma     Fundus dystrophy     Night blindness
    Blindness     Leber congenital amaurosis     Tangier disease

    ABCA4 for disorders           About GeneDecksing

    10/15 Novoseek inferred disease relationships for ABCA4 gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    stargardts disease 98.9 145 10612508 (4), 10746567 (3), 10711710 (3), 12224481 (3) (see all 76)
    stgd1 96.5 42 20029649 (4), 10711710 (4), 9973280 (3), 11379881 (3) (see all 16)
    cone-rod dystrophy 96.2 49 12224481 (4), 16681420 (3), 12796258 (3), 10958761 (2) (see all 30)
    fundus flavimaculatus 95.7 23 10206579 (2), 10509673 (2), 12192456 (2), 10396622 (1) (see all 16)
    retinitis pigmentosa 86.3 56 12224481 (3), 12353176 (3), 18285826 (3), 10874631 (2) (see all 30)
    retinal degeneration 74.7 11 16374319 (1), 15108289 (1), 16546111 (1), 9703434 (1) (see all 8)
    retinopathy 72.5 29 10396622 (2), 11384574 (2), 11017087 (2), 17653054 (1) (see all 19)
    blindness 64.9 4 10958763 (1), 14709597 (1), 14750597 (1)
    maculopathy 54.3 4 18024811 (2), 10958763 (1)
    maculopathy age-related 52.3 2 12824224 (1), 15696369 (1)

    Genetic Association Database (GAD): ABCA4
    Human Genome Epidemiology (HuGE) Navigator: ABCA4 (33 documents)

    Export disorders for ABCA4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ABCA4 gene, integrated from 9 sources (see all 218):
    (articles sorted by number of sources associating them with ABCA4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4). (PubMed id 11379881)1, 2, 4, 9 Yatsenko A.N.... Lupski J.R. (2001)
    2. Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants. (PubMed id 19028736)1, 2, 4, 9 Aguirre-Lamban J....Ayuso C. (2008)
    3. Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration. (PubMed id 11346402)1, 2, 4, 9 Guymer R.H.... Stone E.M. (2001)
    4. An analysis of allelic variation in the ABCA4 gene. (PubMed id 11328725)1, 2, 4, 9 Webster A.R.... Stone E.M. (2001)
    5. Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease (arSTGD). (PubMed id 18977788)1, 2, 4, 9 Riveiro-Alvarez R....Ayuso C. (2008)
    6. Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease. (PubMed id 9490294)1, 2, 3, 9 Nasonkin I....Weber B.H.F. (1998)
    7. ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. (PubMed id 18285826)1, 4, 9 Kitiratschky V.B....Wissinger B. (2008)
    8. Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. (PubMed id 10958761)1, 2, 9 Maugeri A.... Cremers F.P.M. (2000)
    9. Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family. (PubMed id 15017103)1, 4, 9 Simonelli F....Allikmets R. (2004)
    10. Biochemical defects in ABCR protein variants associated with human retinopathies. (PubMed id 11017087)1, 2, 9 Sun H.... Nathans J. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 24 HGNC: 34 AceView: ABCA4 Ensembl:ENSG00000198691 euGenes: HUgn24
    ECgene: ABCA4 Kegg: 24 H-InvDB: ABCA4

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ABCA4 Pharmacogenomics, SNPs, Pathways
    Mutations of the ABCA4 genehttp://www.retina-international.org/files/sci-news/abcrmut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCA4
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=P78363

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ABCA4 gene:
    Search GeneIP for patents involving ABCA4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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