Details for: ABCA4

Gene ID: 24

Symbol: ABCA4

Ensembl ID: ENSG00000198691

Description: ATP binding cassette subfamily A member 4

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 5.7
    Marker Score: 3240
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 4.29
    Marker Score: 2260
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 2.91
    Marker Score: 851
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 2.8
    Marker Score: 953
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 2.51
    Marker Score: 1890
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 2.47
    Marker Score: 1031.5
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 2.32
    Marker Score: 691
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 1.99
    Marker Score: 1317
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 1.99
    Marker Score: 5681
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.85
    Marker Score: 580
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.72
    Marker Score: 3259
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.48
    Marker Score: 169408
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.35
    Marker Score: 2744
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.26
    Marker Score: 852
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 1.14
    Marker Score: 360
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71820
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48044
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 505
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 459
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.96
    Marker Score: 14945
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.94
    Marker Score: 2213
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5276
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 323
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.88
    Marker Score: 528
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5284
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.87
    Marker Score: 415
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.8
    Marker Score: 207
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1258
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.76
    Marker Score: 698
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 394
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 459
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.71
    Marker Score: 230
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.71
    Marker Score: 284.5
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.69
    Marker Score: 2884
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.62
    Marker Score: 831
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.61
    Marker Score: 300
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 0.6
    Marker Score: 160
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.6
    Marker Score: 2525
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.6
    Marker Score: 647
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.54
    Marker Score: 171
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 0.47
    Marker Score: 451
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.44
    Marker Score: 232
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.43
    Marker Score: 128
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.42
    Marker Score: 186
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.39
    Marker Score: 3327
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.38
    Marker Score: 158
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.38
    Marker Score: 289
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.35
    Marker Score: 205.5
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.35
    Marker Score: 148
  • Cell Name: bipolar neuron (CL0000103)
    Fold Change: 0.35
    Marker Score: 118
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.33
    Marker Score: 380
  • Cell Name: S cone cell (CL0003050)
    Fold Change: 0.33
    Marker Score: 98
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.31
    Marker Score: 108
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.31
    Marker Score: 84
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.3
    Marker Score: 135
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.29
    Marker Score: 831
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.27
    Marker Score: 87
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.27
    Marker Score: 1133
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.27
    Marker Score: 209
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 0.27
    Marker Score: 86
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.27
    Marker Score: 233
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.26
    Marker Score: 3437
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.24
    Marker Score: 131
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.23
    Marker Score: 129
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 64
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 74
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.22
    Marker Score: 88
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.21
    Marker Score: 208.5
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.2
    Marker Score: 187
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2
    Marker Score: 143
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.19
    Marker Score: 89
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.19
    Marker Score: 647
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.19
    Marker Score: 168
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.18
    Marker Score: 255
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.18
    Marker Score: 182
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.18
    Marker Score: 62
  • Cell Name: blood vessel smooth muscle cell (CL0019018)
    Fold Change: 0.17
    Marker Score: 46
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 43
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 0.17
    Marker Score: 472
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.16
    Marker Score: 95
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.16
    Marker Score: 90
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 0.15
    Marker Score: 804
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.15
    Marker Score: 75.5
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.15
    Marker Score: 91
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.14
    Marker Score: 178
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.14
    Marker Score: 271.5
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: 0.14
    Marker Score: 69
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.14
    Marker Score: 51
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.13
    Marker Score: 804
  • Cell Name: endothelial tip cell (CL0000704)
    Fold Change: 0.13
    Marker Score: 31
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.13
    Marker Score: 345
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 0.13
    Marker Score: 180.5
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.13
    Marker Score: 31
  • Cell Name: type I enteroendocrine cell (CL0002277)
    Fold Change: 0.12
    Marker Score: 31
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.12
    Marker Score: 138
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.12
    Marker Score: 2594

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Other Information

**Key characteristics:** * The ABCA4 gene is located on chromosome 19q31.1. * It is a highly expressed gene in many cell types, including megakaryocytes, hematopoietic stem cells, non-pigmented ciliary epithelial cells, pigmented ciliary epithelial cells, photoreceptor cells, and retinal rod cells. * The protein encoded by ABCA4 is a transmembrane protein with a molecular weight of approximately 130 kDa. * It is a glycoprotein that is expressed on the surface of cells and is involved in the transport of small molecules into and out of the cell. **Pathways and functions:** * The ABCA4 protein is involved in multiple cellular pathways, including the 11-cis retinal binding, Abc-family proteins mediated transport, All-trans retinal binding, Atpase-coupled transmembrane transporter activity, Atp binding, Atp hydrolysis activity, Disease, Diseases associated with visual transduction, Diseases of the neuronal system, Gtpase activity, Phosphatidylethanolamine flippase activity, Phospholipid transporter activity, Retinoid binding, Retinoid cycle disease events, Retinol transmembrane transporter activity, Sensory perception, and the canonical retinoid cycle in rods (twilight vision). **Clinical significance:** * Mutations in the ABCA4 gene have been linked to several human diseases, including retinal dystrophies. * These diseases are characterized by the degeneration of retinal rod cells, which are responsible for vision in dim light conditions. * Targeting ABCA4 has been explored as a therapeutic strategy for these diseases.

Genular Protein ID: 931430585

Symbol: ABCA4_HUMAN

Name: ATP-binding cassette sub-family A member 4

UniProtKB Accession Codes:

P78363 O15112 O60438 O60915 Q0QD48 Q4LE31

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 22 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 ELM 1 EMBL 57 EMDB 9 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 31 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 10 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 15 PDBsum 7 PRO 1 PROSITE 2 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 3 RefSeq 1 Rhea 6 SAM 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 9054934

Title: A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.

PubMed ID: 9054934

DOI: 10.1038/ng0397-236

PubMed ID: 9202155

Title: The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR).

PubMed ID: 9202155

DOI: 10.1016/s0014-5793(97)00517-6

PubMed ID: 9503029

Title: Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease.

PubMed ID: 9503029

DOI: 10.1006/geno.1997.5164

PubMed ID: 9490294

Title: Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease.

PubMed ID: 9490294

DOI: 10.1007/s004390050649

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 17286855

Title: Mapping of transcription start sites of human retina expressed genes.

PubMed ID: 17286855

DOI: 10.1186/1471-2164-8-42

PubMed ID: 10075733

Title: Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease.

PubMed ID: 10075733

DOI: 10.1074/jbc.274.12.8269

PubMed ID: 9466990

Title: Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.

PubMed ID: 9466990

DOI: 10.1093/hmg/7.3.355

PubMed ID: 11320094

Title: Membrane topology of the ATP binding cassette transporter ABCR and its relationship to ABC1 and related ABCA transporters: identification of N-linked glycosylation sites.

PubMed ID: 11320094

DOI: 10.1074/jbc.m101902200

PubMed ID: 20404325

Title: Interaction of extracellular domain 2 of the human retina-specific ATP-binding cassette transporter (ABCA4) with all-trans-retinal.

PubMed ID: 20404325

DOI: 10.1074/jbc.m110.112896

PubMed ID: 23144455

Title: Retinoid binding properties of nucleotide binding domain 1 of the Stargardt disease-associated ATP binding cassette (ABC) transporter, ABCA4.

PubMed ID: 23144455

DOI: 10.1074/jbc.m112.409623

PubMed ID: 22735453

Title: ABCA4 is an N-retinylidene-phosphatidylethanolamine and phosphatidylethanolamine importer.

PubMed ID: 22735453

DOI: 10.1038/ncomms1927

PubMed ID: 24097981

Title: Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.

PubMed ID: 24097981

DOI: 10.1074/jbc.m113.508812

PubMed ID: 31481235

Title: Functional significance of the conserved C-Terminal VFVNFA motif in the retina-specific ABC transporter, ABCA4, and its role in inherited visual disease.

PubMed ID: 31481235

DOI: 10.1016/j.bbrc.2019.08.121

PubMed ID: 33605212

Title: Molecular structures of the eukaryotic retinal importer ABCA4.

PubMed ID: 33605212

DOI: 10.7554/elife.63524

PubMed ID: 9295268

Title: Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.

PubMed ID: 9295268

DOI: 10.1126/science.277.5333.1805

PubMed ID: 9781034

Title: Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.

PubMed ID: 9781034

DOI: 10.1038/sj.ejhg.5200221

PubMed ID: 9973280

Title: Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.

PubMed ID: 9973280

DOI: 10.1086/302251

PubMed ID: 10090887

Title: The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the western European population and allows the classification of ABCR Mutations in patients with Stargardt disease.

PubMed ID: 10090887

DOI: 10.1086/302323

PubMed ID: 10612508

Title: A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease.

PubMed ID: 10612508

DOI: 10.1016/s0002-9394(99)00236-6

PubMed ID: 10206579

Title: Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene.

PubMed ID: 10206579

DOI: 10.1001/archopht.117.4.504

PubMed ID: 10880298

Title: Further evidence for an association of ABCR alleles with age-related macular degeneration.

PubMed ID: 10880298

DOI: 10.1086/303018

PubMed ID: 10958763

Title: A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

PubMed ID: 10958763

DOI: 10.1086/303090

PubMed ID: 10958761

Title: Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.

PubMed ID: 10958761

DOI: 10.1086/303079

PubMed ID: 10746567

Title: Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance.

PubMed ID: 10746567

DOI: 10.1007/s004390051034

PubMed ID: 10634594

Title: An analysis of ABCR mutations in British patients with recessive retinal dystrophies.

PubMed ID: 10634594

PubMed ID: 10711710

Title: New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.

PubMed ID: 10711710

PubMed ID: 11017087

Title: Biochemical defects in ABCR protein variants associated with human retinopathies.

PubMed ID: 11017087

DOI: 10.1038/79994

PubMed ID: 11594993

Title: Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1).

PubMed ID: 11594993

DOI: 10.1034/j.1600-0420.2001.790520.x

PubMed ID: 11384574

Title: Analysis of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: is retinal toxicity by chloroquine and hydroxychloroquine related to Stargardt disease?

PubMed ID: 11384574

DOI: 10.1016/s0002-9394(01)00838-8

PubMed ID: 11346402

Title: Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration.

PubMed ID: 11346402

DOI: 10.1001/archopht.119.5.745

PubMed ID: 11379881

Title: Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).

PubMed ID: 11379881

DOI: 10.1007/s004390100493

PubMed ID: 11385708

Title: Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies.

PubMed ID: 11385708

DOI: 10.1002/humu.1133

PubMed ID: 11328725

Title: An analysis of allelic variation in the ABCA4 gene.

PubMed ID: 11328725

PubMed ID: 11527935

Title: Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.

PubMed ID: 11527935

PubMed ID: 12111378

Title: Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8.

PubMed ID: 12111378

DOI: 10.1007/s100380200041

PubMed ID: 15192030

Title: Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations.

PubMed ID: 15192030

DOI: 10.1373/clinchem.2004.033241

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 19028736

Title: Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.

PubMed ID: 19028736

DOI: 10.1136/bjo.2008.145193

PubMed ID: 18977788

Title: Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.

PubMed ID: 18977788

DOI: 10.1136/bjo.2008.148155

PubMed ID: 19265867

Title: Novel mutations in of the ABCR gene in Italian patients with Stargardt disease.

PubMed ID: 19265867

DOI: 10.1038/eye.2009.35

PubMed ID: 20335603

Title: ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.

PubMed ID: 20335603

DOI: 10.1167/iovs.09-4655

PubMed ID: 23143460

Title: Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications.

PubMed ID: 23143460

DOI: 10.1001/archophthalmol.2012.1697

PubMed ID: 23419329

Title: ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation.

PubMed ID: 23419329

DOI: 10.1016/j.exer.2013.02.006

PubMed ID: 24444108

Title: Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.

PubMed ID: 24444108

DOI: 10.1186/1471-2350-15-11

PubMed ID: 24457364

Title: Predictors of visual acuity and genotype-phenotype correlates in a cohort of patients with Stargardt disease.

PubMed ID: 24457364

DOI: 10.1136/bjophthalmol-2013-304270

PubMed ID: 25346251

Title: An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.

PubMed ID: 25346251

DOI: 10.1002/humu.22716

PubMed ID: 26780318

Title: Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.

PubMed ID: 26780318

DOI: 10.1167/iovs.15-18190

PubMed ID: 29847635

Title: Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease.

PubMed ID: 29847635

DOI: 10.1167/iovs.17-23364

PubMed ID: 30120214

Title: Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa.

PubMed ID: 30120214

DOI: 10.1136/jmedgenet-2018-105364

PubMed ID: 33375396

Title: Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration.

PubMed ID: 33375396

DOI: 10.3390/ijms22010185

Sequence Information:

  • Length: 2273
  • Mass: 255944
  • Checksum: 6E7012D3041CD043
  • Sequence:
    • MGFVRQIQLL LWKNWTLRKR QKIRFVVELV WPLSLFLVLI WLRNANPLYS HHECHFPNKA 
MPSAGMLPWL QGIFCNVNNP CFQSPTPGES PGIVSNYNNS ILARVYRDFQ ELLMNAPESQ 
HLGRIWTELH ILSQFMDTLR THPERIAGRG IRIRDILKDE ETLTLFLIKN IGLSDSVVYL 
LINSQVRPEQ FAHGVPDLAL KDIACSEALL ERFIIFSQRR GAKTVRYALC SLSQGTLQWI 
EDTLYANVDF FKLFRVLPTL LDSRSQGINL RSWGGILSDM SPRIQEFIHR PSMQDLLWVT 
RPLMQNGGPE TFTKLMGILS DLLCGYPEGG GSRVLSFNWY EDNNYKAFLG IDSTRKDPIY 
SYDRRTTSFC NALIQSLESN PLTKIAWRAA KPLLMGKILY TPDSPAARRI LKNANSTFEE 
LEHVRKLVKA WEEVGPQIWY FFDNSTQMNM IRDTLGNPTV KDFLNRQLGE EGITAEAILN 
FLYKGPRESQ ADDMANFDWR DIFNITDRTL RLVNQYLECL VLDKFESYND ETQLTQRALS 
LLEENMFWAG VVFPDMYPWT SSLPPHVKYK IRMDIDVVEK TNKIKDRYWD SGPRADPVED 
FRYIWGGFAY LQDMVEQGIT RSQVQAEAPV GIYLQQMPYP CFVDDSFMII LNRCFPIFMV 
LAWIYSVSMT VKSIVLEKEL RLKETLKNQG VSNAVIWCTW FLDSFSIMSM SIFLLTIFIM 
HGRILHYSDP FILFLFLLAF STATIMLCFL LSTFFSKASL AAACSGVIYF TLYLPHILCF 
AWQDRMTAEL KKAVSLLSPV AFGFGTEYLV RFEEQGLGLQ WSNIGNSPTE GDEFSFLLSM 
QMMLLDAAVY GLLAWYLDQV FPGDYGTPLP WYFLLQESYW LGGEGCSTRE ERALEKTEPL 
TEETEDPEHP EGIHDSFFER EHPGWVPGVC VKNLVKIFEP CGRPAVDRLN ITFYENQITA 
FLGHNGAGKT TTLSILTGLL PPTSGTVLVG GRDIETSLDA VRQSLGMCPQ HNILFHHLTV 
AEHMLFYAQL KGKSQEEAQL EMEAMLEDTG LHHKRNEEAQ DLSGGMQRKL SVAIAFVGDA 
KVVILDEPTS GVDPYSRRSI WDLLLKYRSG RTIIMSTHHM DEADLLGDRI AIIAQGRLYC 
SGTPLFLKNC FGTGLYLTLV RKMKNIQSQR KGSEGTCSCS SKGFSTTCPA HVDDLTPEQV 
LDGDVNELMD VVLHHVPEAK LVECIGQELI FLLPNKNFKH RAYASLFREL EETLADLGLS 
SFGISDTPLE EIFLKVTEDS DSGPLFAGGA QQKRENVNPR HPCLGPREKA GQTPQDSNVC 
SPGAPAAHPE GQPPPEPECP GPQLNTGTQL VLQHVQALLV KRFQHTIRSH KDFLAQIVLP 
ATFVFLALML SIVIPPFGEY PALTLHPWIY GQQYTFFSMD EPGSEQFTVL ADVLLNKPGF 
GNRCLKEGWL PEYPCGNSTP WKTPSVSPNI TQLFQKQKWT QVNPSPSCRC STREKLTMLP 
ECPEGAGGLP PPQRTQRSTE ILQDLTDRNI SDFLVKTYPA LIRSSLKSKF WVNEQRYGGI 
SIGGKLPVVP ITGEALVGFL SDLGRIMNVS GGPITREASK EIPDFLKHLE TEDNIKVWFN 
NKGWHALVSF LNVAHNAILR ASLPKDRSPE EYGITVISQP LNLTKEQLSE ITVLTTSVDA 
VVAICVIFSM SFVPASFVLY LIQERVNKSK HLQFISGVSP TTYWVTNFLW DIMNYSVSAG 
LVVGIFIGFQ KKAYTSPENL PALVALLLLY GWAVIPMMYP ASFLFDVPST AYVALSCANL 
FIGINSSAIT FILELFENNR TLLRFNAVLR KLLIVFPHFC LGRGLIDLAL SQAVTDVYAR 
FGEEHSANPF HWDLIGKNLF AMVVEGVVYF LLTLLVQRHF FLSQWIAEPT KEPIVDEDDD 
VAEERQRIIT GGNKTDILRL HELTKIYPGT SSPAVDRLCV GVRPGECFGL LGVNGAGKTT 
TFKMLTGDTT VTSGDATVAG KSILTNISEV HQNMGYCPQF DAIDELLTGR EHLYLYARLR 
GVPAEEIEKV ANWSIKSLGL TVYADCLAGT YSGGNKRKLS TAIALIGCPP LVLLDEPTTG 
MDPQARRMLW NVIVSIIREG RAVVLTSHSM EECEALCTRL AIMVKGAFRC MGTIQHLKSK 
FGDGYIVTMK IKSPKDDLLP DLNPVEQFFQ GNFPGSVQRE RHYNMLQFQV SSSSLARIFQ 
LLLSHKDSLL IEEYSVTQTT LDQVFVNFAK QQTESHDLPL HPRAAGASRQ AQD

Genular Protein ID: 3351597407

Symbol: Q6AI28_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q6AI28

Database IDs:

ARBA 7 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 EMBL 2 GO 4 Gene3D 1 Genevisible 1 GenomeRNAi 1 InterPro 5 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 2 PeptideAtlas 1 Pfam 2 PharmGKB 1 RefSeq 1 SAM 2 SMART 1 SMR 1 SUPFAM 1

Sequence Information:

  • Length: 1065
  • Mass: 118112
  • Checksum: F6386682A8164E68
  • Sequence:
    • MDVVLHHVPE AKLVECIGQE LIFLLPNKNF KHRAYASLFR ELEETLADLG LSSFGISDTP 
LEEIFLKVTE DSDSGPLFAG GAQQKRENVN PRHPCLGPRE KAGQTPQDSN VCSPGAPAAH 
PEGQPPPEPE CPGPQLNTGT QLVLQHVQAL LVKRFQHTIR SHKDFLAQIV LPATFVFLAL 
MLSIVIPPFG EYPALTLHPW IYGQQYTFFS MDEPGSEQFT VLADVLLNKP GFGNRCLKEG 
WLPEYPCGNS TPWKTPSVSP NITQLFQKQK WTQVNPSPSC RCSTREKLTM LPECPEGAGG 
LPPPQRTQRS TEILQDLTDR NISDFLVKTY PALIRSSLKS KFWVNEQRYG GISIGGKLPV 
VPITGEALVG FLSDLGRIMN VSGGPITREA SKEIPDFLKH LETEDNIKVW FNNKGWHALV 
SFLNVAHNAI LRASLPKDRS PEEYGITVIS QPLNLTKEQL SEITVLTTSV DAVVAICVIF 
SMSFVPASFV LYLIQERVNK SKHLQFISGV SPTTYWVTNF LWDIMNYSVS AGLVVGIFIG 
FQKKAYTSPE NLPALVALLL LYGWAVIPMM YPASFLFDVP STAYVALSCA NLFIGINSSA 
ITFILELFEN NRTLLRFNAV LRKLLIVFPH FCLGRGLIDL ALSQAVTDVY ARFGEEHSAN 
PFHWDLIGKN LFAMVVEGVV YFLLTLLVQR HFFLSQWIAE PTKEPIVDED DDVAEERQRI 
ITGGNKTDIL RLHELTKIYP GTSSPAVDRL CVGVRPGECF GLLGVSGAGK TTTFKMLTGD 
TTVTSGDATV AGKSILTNIS EVHQNMGYCP QFDAIDELLT GREHLYLYAR LRGVPAEEIE 
KVANWSIKSL GLTVYADCLA GTYSGGNKRK LSTAIALIGC PPLVLLDEPT TGMDPQARRM 
LWNVIVSIIR EGRAVVLTSH SMEECEALCT RLAIMVKGAF RCMGTIQHLK SKFGDGYIVT 
MKIKSPKDDL LPDLNPVEQF FQGNFPGSVQ RERHYNMLQF QVSSSSLARI FQLLLSHKDS 
LLIEEYSVTQ TTLDQVFVNF AKQQTESHDL PLHPRAAGAS RQAQD

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.