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)

  • 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.