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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ABCA4 Gene

protein-coding GIFtS: 60
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)

Explore 52 diseases affiliated with
ABCA4 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
ATP-Binding Cassette, Sub-Family A (ABC1), Member 4¹ 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

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:

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 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

(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

SwitchGear Promoter luciferase reporter plasmid: ABCA4 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 ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, 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 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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P78363

2 DME Specific Peptides for ABCA4 (P78363)

LDEPTTG

NGAGKTT

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
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	Uscn Proteins for ABCA4

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	IEA	--
GO:0009295	nucleoid	--	--
GO:0016020	membrane	TAS	9054934

ABCA4 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for ABCA4

(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:

IPR003439 ABC_transporter-like

IPR005951 Rim_ABC_transpt

IPR003593 AAA+_ATPase

IPR026082 ABC_A

IPR017871 ABC_transporter_CS

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, 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 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

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		hsa-miR-194* hsa-miR-125a-3p
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		Search LifeMap BioReagents cell lines for 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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	--	--
GO:0004012	phospholipid-translocating ATPase activity	IEA	--
GO:0005215	transporter activity	TAS	9054934
GO:0005524	ATP binding	IEA	--
GO:0005548	phospholipid transporter activity	--	--

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):

cardiovascular system	homeostasis/metabolism	nervous system	no phenotypic analysis	pigmentation
vision/eye

ABCA4 for phenotypes About GeneDecksing

(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 ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, 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

ABC-family proteins mediated transport

ABC-family proteins mediated transport

1.00

ABC transporters

0.70

Retinoid metabolism and transport

Visual phototransduction

0.74

Diseases associated with visual transduction

0.73

Disease

Disease

1.00

Signaling by GPCR

Signal Transduction

0.56

SLC-mediated transmembrane transport

Transmembrane transport of small molecules

0.50

Pathway sources
See GeneCards unified pathways
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 Central^TM 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

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CNGB1	Q14028³, ENSP00000251102⁴	I2D: score=2 STRING: ENSP00000251102

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006649	phospholipid transfer to membrane	IEA	--
GO:0006810	transport	TAS	9054934
GO:0007059	chromosome segregation	--	--
GO:0007601	visual perception	TAS	9425888
GO:0007603	phototransduction, visible light	TAS	9202155

ABCA4 for ontologies About GeneDecksing

(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 Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

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

(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)

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		QIAGEN QuantiFast Probe-based Assays in 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

(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 imageBioGPS
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 marker

Experimental 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:

Drug Transporters in human mouse rat

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In Situ
Assay Products:

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(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 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)

(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 ABCA3 ABCA13 ABC2 ABCA12 NG-TRA

ABCA5 ABCA8 ABCA9 ABCG2

ABCA4 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, 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% 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

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121909205^1,2	C,F,	pathogenic	111752593(-)	`CCCTGC/TGGAAA`	2	R W	mis¹		1		NA	4550
rs61750200^1,2	C	pathogenic	111774667(-)	`TGGAGC/TGCTTC`	2	R C	mis¹		0	--	--	--	--
rs61748548^1,2	C	pathogenic	111793027(-)	`ACTGGG/TATGAA`	2	D Y	mis¹		0	--	--	--	--
rs61751392^1,2	C,F	pathogenic	111810336(-)	`CTCTCT/CACTGG`	2	/P /L	mis¹		2		NA EU	5875
rs61748559^1,2	C	pathogenic	111810429(-)	`GATCCA/C/GAATGG`	3	Q P R	mis¹		0	--	--	--	--
rs61749438^1,2	C	pathogenic	111818454(-)	`GCTTGA/GTACCT`	2	* W	stg¹		0	--	--	--	--
rs76157638^1,2	C,F,	pathogenic	111821889(+)	`AGTCTC/GCTAAA`	2	A G	mis¹		2		NA EU	5867
rs58331765^1,2	C,F,	pathogenic	111826549(+)	`CTTCAC/TGCATA`	2	M V	mis¹		2		WA NA	4554
rs1801581^1,2	C,F,	pathogenic	111826586(-)	`TGGCCG/AGCCAG`	2	/Q /R	mis¹		6		NA CSA EU	6001
rs61750061^1,2	C	pathogenic	111830169(-)	`CCCAGA/GAGGAG`	2	K E	mis¹		0	--	--	--	--

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

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(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

(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 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)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(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

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

Intellectual Property for ABCA4 gene
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GeneCards and IP:
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ABCA4 Gene

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

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ABCA4 (Gene Symbol)
ATP-Binding Cassette, Sub-Family A (ABC1), Member 4
ABCR
ARMD2
CORD3
FFM
RP19
STGD1
STGD
ATP-Binding Cassette Transporter, Retinal-Specific
Stargardt Disease Protein
ATP-Binding Cassette Sub-Family A Member 4
RIM ABC Transporter
RIM Protein
ABC10
RMP
ATP Binding Cassette Transporter
ATP-Binding Transporter, Retina-Specific
Photoreceptor Rim Protein
Retina-Specific ABC Transporter
Retinal-Specific ATP-Binding Cassette Transporter
RmP
EC 3.6.3

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ABCA4 Gene

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

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