ABCA4 - ENSG00000198691

Details for: ABCA4

Gene ID: 24

Symbol: ABCA4

Ensembl ID: ENSG00000198691

Description: ATP binding cassette subfamily A member 4

Associated with

Abc-family proteins mediated transport (R-HSA-382556)
Disease (R-HSA-1643685)
Diseases associated with visual transduction (R-HSA-2474795)
Diseases of the neuronal system (R-HSA-9675143)
Retinoid cycle disease events (R-HSA-2453864)
Sensory perception (R-HSA-9709957)
The canonical retinoid cycle in rods (twilight vision) (R-HSA-2453902)
Transport of small molecules (R-HSA-382551)
Visual phototransduction (R-HSA-2187338)
11-cis retinal binding (GO:0005502)
Abc-type transporter activity (GO:0140359)
All-trans retinal binding (GO:0005503)
Atpase-coupled intramembrane lipid transporter activity (GO:0140326)
Atpase-coupled transmembrane transporter activity (GO:0042626)
Atp binding (GO:0005524)
Atp hydrolysis activity (GO:0016887)
Cytoplasmic vesicle (GO:0031410)
Endoplasmic reticulum (GO:0005783)
Flippase activity (GO:0140327)
Gtpase activity (GO:0003924)
Intracellular membrane-bounded organelle (GO:0043231)
Lipid transport (GO:0006869)
Membrane (GO:0016020)
N-retinylidene-phosphatidylethanolamine flippase activity (GO:0140347)
Phosphatidylethanolamine flippase activity (GO:0090555)
Phospholipid transfer to membrane (GO:0006649)
Phospholipid translocation (GO:0045332)
Phospholipid transporter activity (GO:0005548)
Photoreceptor cell maintenance (GO:0045494)
Photoreceptor disc membrane (GO:0097381)
Photoreceptor outer segment (GO:0001750)
Phototransduction, visible light (GO:0007603)
Plasma membrane (GO:0005886)
Retinal metabolic process (GO:0042574)
Retinoid binding (GO:0005501)
Retinoid metabolic process (GO:0001523)
Retinol transmembrane transporter activity (GO:0034632)
Retinol transport (GO:0034633)
Rod photoreceptor disc membrane (GO:0120202)
Transmembrane transport (GO:0055085)
Visual perception (GO:0007601)

Cells (max top 100)

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

**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.

Database document:

Only first 5 entries are kept for 'singleCellExpressions', 'mRNAExpressions' and other large data arrays.