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ABCA4 Gene

protein-coding GIFtS: 62

GC01M094230

ATP-binding cassette, sub-family A (ABC1), member 4
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: STGD1, ABCR, RP19, STGD)

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

Aliases
ABC10 ^²
ABCR ^², ³, ⁵
ARMD2 ^¹, ², ⁵
CORD3 ^², ⁵
DKFZp781N1972 ^²
FFM ^¹, ², ⁵
FLJ17534 ^²
OTTHUMP00000012366 ^²
RMP ^²
RP19 ^², ⁵
RmP ^³
STGD ^²
STGD1 ^², ⁵

Descriptions
ATP binding cassette transporter ^²
ATP-binding cassette sub-family A member 4 ^³
ATP-binding cassette, sub-family A (ABC1), member 4 ^²
ATP-binding cassette, sub-family A member 4 ^²
ATP-binding cassette, sub-family A, member 4 ^¹
ATP-binding transporter, retina-specific ^²
RIM ABC transporter ^³
RIM protein ^³
Stargardt disease protein ^³
photoreceptor rim protein ^²
retina-specific ABC transporter ^²

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

Search outside databases for aliases for ABCA4 gene

Previous GC identifers: GC01M094859 GC01M093664 GC01M093808 GC01M093930 GC01M094170

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

EntrezGene 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]

UniProtKB/Swiss-Prot: ABCA4_HUMAN, P78363

Function: May play a role in photoresponse. Retinoids, and most likely retinal, are the natural

substrates for transport by abcr in rod outer segments. May act in the visual cycle to flip

PE-all-trans-retinal adducts from the lumenal to the cytosolic face of the disk membrane, move

free all-trans-retinal from the lipid phase of the disk membrane to a juxtamembrane location, or

possibly reorient all-trans-retinal in the bilayer

Gene Wiki entry for ABCA4

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the ABCA4 gene

Entrez Gene cytogenetic band: 1p22.1-p21 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 gene densities for chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M094230: (about GC identifiers)

Start:	94,230,981 bp from pter
End:	94,359,298 bp from pter
Size:	128,318 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000001.9 NT_032977.8

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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

Secondary accessions: O15112 O60438 O60915 Q4LE31

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000341.2

ENSEMBL proteins:

ENSP00000354463 ENSP00000359245

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (ABCA4)
	Human Recombinant Proteins from Abnova (ABCA4)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

3 Gene Ontology (GO) cellular component terms (links to tree view):

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

About this table

Antibodies for ABCA4:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse Antibodies at Sigma-Aldrich
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (ABCA4), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (ABCA4)
	Novus Biologicals Antibodies for ABCA4

Assays for ABCA4:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

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 family. ABCA subfamily

Similarity: Contains 2 ABC transporter domains

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ABCA4)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ABCA4)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000350

Applied Biosystems Silencer® siRNAs for ABCA4

Sigma-Aldrich siRNA and siRNA Panels for ABCA4

Sigma-Aldrich shRNA for ABCA4

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000350
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000350
untagged cDNA clone in CMV expression vector: NM_000350

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000350

UniProtKB/Swiss-Prot: ABCA4_HUMAN, P78363

Function: May play a role in photoresponse. Retinoids, and most likely retinal, are the natural

substrates for transport by abcr in rod outer segments. May act in the visual cycle to flip

PE-all-trans-retinal adducts from the lumenal to the cytosolic face of the disk membrane, move

free all-trans-retinal from the lipid phase of the disk membrane to a juxtamembrane location, or

possibly reorient all-trans-retinal in the bilayer

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

4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Abca4):

homeostasis/metabolism

nervous system

pigmentation

vision/eye

5/7 Gene Ontology (GO) molecular function terms (links to tree view) (see all 7 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0004012	phospholipid-translocating ATPase activity	IEA	--
GO:0005215	transporter activity	TAS	9054934
GO:0005524	ATP binding	TAS	9054934
GO:0005548	phospholipid transporter activity	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Gene Network Central^TM Interacting Genes and Proteins Network for ABCA4

5/15 Interacting proteins for ABCA4 (ENSP00000354463³) via UniProtKB, MINT, and/or STRING (see all 15 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ELOVL4	ENSP00000358831³	STRING (score=.955)
CNGB1	ENSP00000251102³	STRING (score=.817)
INS	ENSP00000370731³	STRING (score=.815)
ABCB1	ENSP00000265724³	STRING (score=.767)
CRX	ENSP00000221996³	STRING (score=.762)

About this table

5 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006649	phospholipid transfer to membrane	IEA	--
GO:0006810	transport	TAS	9054934
GO:0007603	phototransduction, visible light	TAS	9202155
GO:0045494	photoreceptor cell maintenance	IEA	--
GO:0050896	response to stimulus	IEA	--

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for ABCA4
7 Novoseek chemical compound relationships for ABCA4 gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
atp	31.68	20	15471866 (4), 10874631 (2), 12888572 (2), 16533065 (2) (see all 10)
phosphatidylethanolamine	22.28	6	15471866 (2), 10412977 (1)
adp	1.51	3	12888572 (2), 15471866 (1)
phospholipid	0.00	1	15044640 (1)
cholesterol	0.00	1	17029687 (1)
lipid	0.00	2	17973979 (1), 12962493 (1)
gtp	0.00	1	15471866 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ABCA4)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ABCA4)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000350

Sigma-Aldrich siRNA and siRNA Panels for ABCA4

Sigma-Aldrich shRNA for ABCA4

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000350

REFSEQ mRNAs for ABCA4 gene:

NM_000350.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000350

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000350
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000350
                                 untagged cDNA clone in CMV expression vector: NM_000350

Additional cDNA sequence:

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

DQ426859.1 U88667.1

13 DOTS entries:

DT.314419 DT.97821623 DT.40115469 DT.314422 DT.121400333 DT.314421 DT.40255320 DT.121400340

DT.40116675 DT.40270936 DT.97765193 DT.97825837 DT.97843252

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

AI128615 BX473757 BM687039 H85972 BQ637768 BU730994 BQ637957 BM690592

CA394887 BM673711 AI827761 AA905109 CA390557 CA391240 BQ639783 AI564136

BX092191 BU740200 AA970792 CR627391 AI932378 CA398100 AA613174 BM694900

highest scoring ESTs for ABCA4:

AF000148 AA019004 AL712362 AL712388 AL712461 AL712499 AL713392 U88667 AA054277 AA203561

Unigene Cluster for ABCA4:

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

Hs.416707 [show with all ESTs]

Unigene Representative Sequence: NM_000350

GeneLoc Exon Structure

2 Ensembl transcripts including schematic representations:

ENST00000361520 ENST00000370225

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

ABCA4 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for ABCA4

¹ / ² / ³

4 probe-sets matching ABCA4 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
40963_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	AF000148	1.00	1.00	1.00	1
210082_at²^{, 3}	U133-A	1	1.00	1.00	--	--	U88667	0.80	1.00	0.91	1
210082_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1569102_at*²	U133Plus2	NULL	0.00	0.00	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: GAAAAATAAA

SOURCE GeneReport for Unigene cluster: Hs.416707
Expression variation in blood from EXPOLDB for ABCA4
UniProtKB/Swiss-Prot: ABCA4_HUMAN, P78363
Tissue specificity: Retinal-specific. Seems to be exclusively found in the rims of rod
photoreceptor cells

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for ABCA4 gene from 5/10 species (see all 10 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	ABCA4¹	--	ATP-binding cassette, sub-family A (ABC1), member 4	89.9(n) 90.5(a)	444852 NM_001003360.2 NP_001003360.2
chimpanzee (Pan troglodytes)	ABCA4¹	--	ATP-binding cassette, sub-family A (ABC1), member 4	99.34(n) 99.25(a)	745972 XM_001152577.1 XP_001152577.1
cow (Bos taurus)	ABCA4¹	--	ATP-binding cassette, sub-family A (ABC1), member 4	88.62(n) 89.34(a)	281584 NM_174221.2 NP_776646.1
rat (Rattus norvegicus)	Abca4¹	--	ATP-binding cassette, sub-family A (ABC1), member 4	86(n) 88.24(a)	310836 XM_241525.4 XP_241525.3
mouse (Mus musculus)	Abca4^{1, 5}	3 (61.80 cM)⁵	ATP-binding cassette, sub-family A (ABC1), member 4^{1, 5}	86.48(n)¹ 88.46(a)¹	11304¹ NM_007378.1¹ NP_031404.1¹ AF000149⁵ AK052916⁵ (see all 12)

About this table Species with no ortholog for ABCA4

ENSEMBL Gene Tree for ABCA4

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for ABCA4 gene

ABCA1² ABCA7²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
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

10/1377 NCBI SNPs in ABCA4 are shown (see all 1377 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 562)

AB	SNP ID	Valid	Chr 1 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs3112831^1,2	A,C,F,H,O	94316822(-)	`GGAACA/GCGTTA`	1	H/R	mis¹ ese³		12	EA NA EU WA	1050
	rs6666652^1,2	A,C,F,H	94234305(+)	`CATGAC/ATTTCA`	1	I/S	mis¹		11	NA EU EA WA	972
	rs6673287^1,2	A,C,F,H	94359992(+)	`AGGTGA/GGGGAT`	1	--	ng3¹		4	EU EA WA	416
	rs1800549^1,2	C,F,H,O	94268641(-)	`GTTCAC/TGGTAC`	1	T/M	mis¹ ese³		12	MN NA EU EA WA	1164
	rs2151846^1,2	A,C,F,H	94360275(-)	`AAACTC/ATCTCT`	1	--	ng3¹		5	EU EA WA	1916
	rs10747459^1,2	A,C,F,H	94359702(+)	`TCTTTC/TATCTT`	1	--	ng3¹		7	NA EU EA WA	546
	rs11802887^1,2	C,F,H	94359432(+)	`CACAAG/ATGGCT`	1	--	ng3¹		4	EU EA WA	408
	rs3761906^1,2	C,F,H	94359950(+)	`TTCCAG/TCCCTG`	1	--	ng3¹		7	NA EU EA WA	556
	rs11806223^1,2	C,F,H	94359478(+)	`GAAACC/AAAGAC`	1	--	ng3¹		4	EU EA WA	408
	rs3789452^1,2	C,F,H	94360089(+)	`TGTGTT/ACTCTT`	1	--	ng3¹ tfbs³		14	EA NA EU WA	2644

About this table

HapMap Linkage Disequilibrium images for ABCA4 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 601691 disorders: 248200 601718 604116 153800 248200 248200

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

10/15 Novoseek disease relationships for ABCA4 gene (see all 15 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
stargardts disease	98.81	127	10612508 (4), 10746567 (3), 10711710 (3), 12224481 (3) (see all 67)
stgd1	96.43	37	10711710 (4), 9973280 (3), 11379881 (3), 10958761 (2) (see all 14)
cone-rod dystrophy	95.97	46	12224481 (4), 16681420 (3), 12796258 (3), 10958761 (2) (see all 27)
fundus flavimaculatus	95.87	22	10206579 (2), 10509673 (2), 12192456 (2), 10396622 (1) (see all 15)
retinitis pigmentosa	85.57	53	12224481 (3), 12353176 (3), 18285826 (3), 10874631 (2) (see all 27)
retinal degeneration	75.39	11	16374319 (1), 15108289 (1), 16546111 (1), 9703434 (1) (see all 8)
retinopathy	71.19	28	10396622 (2), 11384574 (2), 11017087 (2), 17653054 (1) (see all 18)
blindness	64.94	4	10958763 (1), 14709597 (1), 14750597 (1)
maculopathy age-related	54.19	2	12824224 (1), 15696369 (1)
maculopathy	50.83	4	18024811 (2), 10958763 (1)

About this table

Human Gene Mutation Database: ABCA4
Genetic Association Database: ABCA4
Human Genome Epidemiology Navigator: ABCA4 (22 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

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

10/155 PubMed articles for ABCA4 gene (see all 155 ):

Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4). (PubMed id 11379881)^{1, 3, 4, 6} 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, 3, 4, 6} Guymer R.H.... Stone E.M. (2001)
An analysis of allelic variation in the ABCA4 gene. (PubMed id 11328725)^{1, 3, 4, 6} 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, 4} 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, 3, 4} 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, 3, 6} Simonelli F....Allikmets R. (2004)
Biochemical defects in ABCR protein variants associated with human retinopathies. (PubMed id 11017087)^{1, 3, 4} 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, 3, 4} 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, 3, 4} 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, 3, 4} Shroyer N.F.... Lupski J.R. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 24	HGNC: 34	AceView: ABCA4	Ensembl:ENSG00000198691	euGenes: HUgn24
ECgene: ABCA4	H-InvDB: ABCA4

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
Mutations of the ABCA4 gene	http://www.retina-international.com/sci-news/abcrmut.htm
GeneReviews	http://www.genetests.org/query?gene=ABCA4

Licensable Technologies for ABCA4
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for ABCA4:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for ABCA4-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for ABCA4		Browse antibodies at Sigma-Aldrich
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for ABCA4		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (ABCA4)
	Antibodies (ABCA4)
	Chimera RNAi (ABCA4)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Search for Antibodies & Assays

	Recombinant Proteins (ABCA4)
	Antibodies (ABCA4)

Search OriGene for ABCA4

Search Tocris compounds for ABCA4

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for ABCA4

GeneCards Homepage - Last full update: 1 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

about GIFtS

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
ABCA4 Gene at Home site.
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ABCA4 Gene

protein-coding GIFtS: 62

Aliases &
Descriptions
for ABCA4

Summaries
for ABCA4

Genomic Location
for ABCA4

Proteins
for ABCA4

Protein Domains/
Families
for ABCA4

Gene Function
for ABCA4

Pathways & Interactions
for ABCA4

Drugs & Compounds
for ABCA4

Transcripts
for ABCA4

Expression
for ABCA4

Orthologs
for ABCA4

Paralogs
for ABCA4

SNPs/Variants
for ABCA4

Disorders & Mutations
for ABCA4

Medical News
for ABCA4

Publications
for ABCA4

Search for ABCA4

Genome Databases showing ABCA4

Other Databases showing ABCA4

Specialized Databases showing ABCA4

Licensable Technologies
for ABCA4

Services
for ABCA4

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ABCA4 (Gene Symbol)
ABC10
ABCR
ARMD2
CORD3
DKFZp781N1972
FFM
FLJ17534
OTTHUMP00000012366
RMP
RP19
RmP
STGD
STGD1
ATP binding cassette transporter
ATP-binding cassette sub-family A member 4
ATP-binding cassette, sub-family A (ABC1), member 4
ATP-binding cassette, sub-family A member 4
ATP-binding cassette, sub-family A, member 4
ATP-binding transporter, retina-specific
RIM ABC transporter
RIM protein
Stargardt disease protein
photoreceptor rim protein
retina-specific ABC transporter

ABCA4 Gene

protein-coding GIFtS: 62

Aliases & Descriptionsfor ABCA4

Summariesfor ABCA4

Genomic Locationfor ABCA4

Proteinsfor ABCA4

Protein Domains/Familiesfor ABCA4

Gene Functionfor ABCA4

Pathways & Interactionsfor ABCA4

Drugs & Compoundsfor ABCA4

Transcriptsfor ABCA4

Expression for ABCA4

Orthologsfor ABCA4

Paralogsfor ABCA4

SNPs/Variantsfor ABCA4

Disorders & Mutationsfor ABCA4

Medical Newsfor ABCA4

Publicationsfor ABCA4

Search for ABCA4

Genome Databases showing ABCA4

Other Databases showing ABCA4

Specialized Databases showing ABCA4

Licensable Technologiesfor ABCA4

Servicesfor ABCA4

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for ABCA4

Summaries
for ABCA4

Genomic Location
for ABCA4

Proteins
for ABCA4

Protein Domains/
Families
for ABCA4

Gene Function
for ABCA4

Pathways & Interactions
for ABCA4

Drugs & Compounds
for ABCA4

Transcripts
for ABCA4

Expression
for ABCA4

Orthologs
for ABCA4

Paralogs
for ABCA4

SNPs/Variants
for ABCA4

Disorders & Mutations
for ABCA4

Medical News
for ABCA4

Publications
for ABCA4

Licensable Technologies
for ABCA4

Services
for ABCA4