ABCA4 Gene
protein-coding GIFtS : 60
GCID: GC01 M094458
ATP-binding cassette, sub-family A (ABC1), member 4 (Previous names: ATP-binding cassette transporter, retinal-specific ) (Previous symbols: STGD1, ABCR, RP19, STGD )
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Aliasesfor ABCA4 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases ATP-Binding Cassette, Sub-Family A (ABC1), Member 4 1 2 RIM ABC Transporter2 3 ABCR1 2 3 5 RIM Protein2 3 ARMD21 2 5 ABC102 CORD31 2 5 RMP2 FFM1 2 5 ATP Binding Cassette Transporter2 RP191 2 5 ATP-Binding Transporter, Retina-Specific2 STGD11 2 5 Photoreceptor Rim Protein2 STGD1 2 Retina-Specific ABC Transporter2 ATP-Binding Cassette Transporter, Retinal-Specific1 2 Retinal-Specific ATP-Binding Cassette Transporter2 Stargardt Disease Protein2 3 RmP3 ATP-Binding Cassette Sub-Family A Member 42 3 EC 3.6.38
Export aliases for ABCA4 gene to outside databases Previous GC identifers: GC01M094859 GC01M093664 GC01M093808 GC01M093930 GC01M094170 GC01M094230 GC01M092582
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Summariesfor ABCA4 gene (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 : 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) UniProtKB/Swiss-Prot: ABCA4_HUMAN, P78363 Function : In the visual cycle, acts as an inward-directed retinoid flipase, retinoid substrates imported by ABCA4 fromthe 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
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Genomic Viewsfor 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 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000001.10 NC_018912.1 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 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) 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
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Proteinsfor ABCA4 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
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
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
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 andcones, with around one million copies/photoreceptor
Sequence caution : Sequence=BAE06122.1; Type=Erroneous initiation;
Secondary accessions : O15112 O60438 O60915 Q4LE31Explore the universe of human proteins at neXtProt for ABCA4: NX_P78363 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P78363 2 DME Specific Peptides for ABCA4 (P78363 ) ABCA4 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_000341.2 ENSEMBL proteins: ENSP00000359245 ENSP00000439707 ENSP00000443203 ENSP00000437682 Reactome Protein details: P78363 Human Recombinant Protein Products: Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view) : About this table
ABCA4 for ontologies About GeneDecksing ABCA4 Antibody Products: Assay Products for ABCA4:
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Protein
Domains / Familiesfor ABCA4 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
ABCA4 for domains About GeneDecksing 5 InterPro domains/families :
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 familySimilarity : Contains 2 ABC transporter domains
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Functionfor ABCA4 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
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 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: ABCA4_HUMAN, P78363 Function : In the visual cycle, acts as an inward-directed retinoid flipase, retinoid substrates imported by ABCA4 fromthe 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 3.6.3 2 Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ABCA4 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ABCA4OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: ABCA4 (NM_000350 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ABCA4 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ABCA4
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCA4
Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7 ): About this table
ABCA4 for ontologies About GeneDecksing Animal Models: Mouse knock-outs for ABCA4: Abca4 tm1Kpal Abca4 tm1Ght 6 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Abca4) :
ABCA4 for phenotypes About GeneDecksing
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Pathways & Interactionsfor ABCA4 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/6 super-pathways (see all 6 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 ABC-family proteins mediated transport 2 Retinoid metabolism and transport 3 Disease 4 Signaling by GPCR 5 SLC-mediated transmembrane transport
Pathway sources See GeneCards unified pathways Show all pathways 5/7
Reactome Pathways for ABCA4 (see all 7 )1
Kegg Pathway (Kegg details for ABCA4) :
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 (P78363 3 ENSP00000359245 4 ) via UniProtKB, MINT, STRING , and/or I2D About this table Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8 ): About this table
ABCA4 for ontologies About GeneDecksing
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Drugs & Compoundsfor ABCA4 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , 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 Tocris compounds for ABCA4 10 Novoseek 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
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Transcriptsfor ABCA4 gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
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 ,
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 ) Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ABCA4 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ABCA4OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: ABCA4 (NM_000350 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ABCA4 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ABCA4
Additional cDNA 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 ):
CA394887 BM673711 BU730994 BU726996 BU731300 AI827761 AA905109 BM690592 CR627391 BQ637957 AA970792 BU740200 BM687039 BQ639783 BQ637768 BM694900 AL713451 CA390557 AI932378 AA613174 BX092191 AI128615 BX473757 H85972 GeneLoc Exon Structure
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Expression for ABCA4 gene
(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) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: GAAAAATAAA
About this image ABCA4 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table 1 LifeMap In Vivo Development Anatomical Compartment/Cell Tissue Anatomical Compartment
Cell Category (developmental path) Skeletal Muscle Extraocular Muscles Skeletal Muscle Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
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 : Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for ABCA4Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat ABCA4 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat ABCA4 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat ABCA4 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCA4
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Orthologsfor ABCA4 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of eukaryotes.
Orthologs for ABCA4 gene from 6/20 species (see all 20 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
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
--
71(a)
1 ↔ 1
4(88728909-88858884)
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
thale cress (Arabidopsis thaliana)
eudicotyledons
ABCA16
ABC transporter A family member 1
27(a)
1 → many
2(17382890-17396110)
ENSEMBL Gene Tree for ABCA4 (if available)TreeFam Gene Tree for ABCA4 (if available)
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Paralogsfor ABCA4 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for ABCA4 gene ABCG1 2 ABCA10 2 ABCA13 2 ABCA3 2 ABCG8 2 ABCA2 2 ABCA6 2 ABCA5 2 ABCG2 2 ABCA1 2 ABCA8 2 ABCG4 2 ABCA12 2 ABCA7 2 ABCG5 2 ABCA9 2 16 SIMAP similar genes for ABCA4 using alignment to 5 protein entries: ABCA4_HUMAN (see all proteins ):DKFZp781N1972 DKFZp547P193 ABC1 DKFZp434E1030 ABCA2 ABCA1 ABCA7 ABCA3 ABCA13 ABC2 ABCA12 NG-TRA ABCA5 ABCA8 ABCA9 ABCG2
ABCA4 for paralogs About GeneDecksing
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Genomic Variantsfor ABCA4 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , 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% inNorthern 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
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 1 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for ABCA4 (94458393 - 94586705 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for ABCA4 1 CNV : 48379 Human Gene Mutation Database (HGMD) : ABCA4 Locus Specific Mutation Databases (LSDB): ABCA4 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing ABCA4
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Disorders
/ Diseasesfor ABCA4 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
ABCA4 for disorders About GeneDecksing OMIM gene information: 601691 OMIM disorders : 248200 601718 604116 153800 UniProtKB/Swiss-Prot: ABCA4_HUMAN, P78363
Defects in ABCA4 are the cause of Stargardt disease type 1 (STGD1) [MIM:248200]. STGD is one of the most frequent causes of macular degeneration in childhood. It is characterized by macular dystrophy with juvenile-onset, rapidly progressive course, alterations of the peripheral retina, and subretinal deposition of lipofuscin-like material. STGD1 inheritance is autosomal recessive Defects in ABCA4 are the cause of fundus flavimaculatus (FFM) [MIM:248200]. FFM is an autosomal recessive retinal disorder very similar to Stargardt disease. In contrast to Stargardt disease, FFM is characterized by later onset and slowly progressive course Defects in ABCA4 may be a cause of age-related macular degeneration type 2 (ARMD2) [MIM:153800]. ARMD is 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 (known as drusen) that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane Defects in ABCA4 are the cause of cone-rod dystrophy type 3 (CORD3) [MIM:604116]. CORDs are inherited retinal dystrophies belonging to the group of pigmentary retinopathies. CORDs are 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 Defects in ABCA4 are the cause of retinitis pigmentosa type 19 (RP19) [MIM:601718]. RP leads to degeneration of retinal photoreceptor cells. 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. Inheritance is autosomal recessive 20/52 diseases for ABCA4 (see all 52 ): About MalaCards cone-rod dystrophy stargardt disease fundus flavimaculatus retinitis pigmentosa 19 macular degeneration retinitis retinitis pigmentosa retinal dystrophy, early-onset, severe open-angle glaucoma primary open angle glaucoma cone-rod dystrophy 3 partial central choroid dystrophy stargardt disease, autosomal recessive stargardt disease-1 age related macular degeneration stargardt macular degeneration vitelliform macular dystrophy leber congenital amaurosis maculopathy macular holes 11 diseases from the University of Copenhagen DISEASES database for ABCA4 :cone-rod dystrophy Retinitis pigmentosa Age related macular degeneration Scotoma Vitelliform macular dystrophy Fundus dystrophy Retinoschisis Night blindness Blindness Leber congenital amaurosis Tangier disease 10/15 Novoseek 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
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Publicationsfor ABCA4 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for ABCA4 gene, integrated from 9 sources (see all 208 ): (articles sorted by number of sources associating them with ABCA4) Utopia : connect your pdf to the dynamic world of online information
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) 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) An analysis of allelic variation in the ABCA4 gene. (PubMed id 11328725) 1 , 2 , 4, 9 Webster A.R.... Stone E.M. (2001) 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) 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) 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) Biochemical defects in ABCR protein variants associated with human retinopathies. (PubMed id 11017087) 1 , 2 , 9 Sun H.... Nathans J. (2000) Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene. (PubMed id 10206579) 1 , 2 , 9 Fishman G.A....Hockey R.R. (1999) A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. (PubMed id 9054934) 1 , 2 , 9 Allikmets R.... Lupski J.R. (1997) Analysis of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: is retinal toxicity by chloroquine and hydroxychloroquine related to Stargardt disease? (PubMed id 11384574) 1 , 2 , 9 Shroyer N.F.... Lupski J.R. (2001)
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
External Searches for ABCA4 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Genome Databases showing ABCA4 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Other Databases showing ABCA4 gene
(According to HUGE )
About This Section --
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Specialized Databases showing ABCA4 gene (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
Name Description
PharmGKB entry for ABCA4 Pharmacogenomics, SNPs, Pathways Mutations of the ABCA4 gene http://www.retina-international.org/files/sci-news/abcrmut.htm GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCA4 ABCMdb http://abcmutations.hegelab.org/proteinDetails?uniprot_id=P78363
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
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
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Productsfor ABCA4 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
Browse OriGene Antibodies OriGene shRNA RFP for ABCA4 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for ABCA4 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for ABCA4 Browse OriGene Protein Over-expression Lysates Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for ABCA4 OriGene 3'-UTR Clone for ABCA4 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ABCA4 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ABCA4 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for ABCA4 OriGene Custom Protein Services for ABCA4 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ABCA4 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing ABCA4 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABCA4 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat ABCA4 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat ABCA4 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat ABCA4
Search Tocris compounds for ABCA4
ABCA4 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCA4
Search ThermoFisher Antibodies for ABCA4
Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ABCA4
Jump to Section...
Aliases for ABCA4
Databases for ABCA4
Disorders / Diseases for ABCA4
Domains / Families for ABCA4
Drugs / Compounds for ABCA4
Expression for ABCA4
Function for ABCA4
Genomic Views for ABCA4
Intellectual Property for ABCA4
Orthologs for ABCA4
Paralogs for ABCA4
Pathways / Interactions for ABCA4
Products for ABCA4
Proteins for ABCA4
Publications for ABCA4
Search Box for ABCA4
Summaries for ABCA4
Transcripts for ABCA4
Variants for ABCA4
TOP
BOTTOM