Details for: NPC2

Gene ID: 10577

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: NPC2

Ensembl ID: ENSG00000119655

Description: NPC intracellular cholesterol transporter 2

Cell Significance Landscape

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • plasmacytoid dendritic cell, human CL0001058
    CSI 105.49
    rCSI 73.65%
    PRS 10.79
  • elicited macrophage CL0000861
    CSI 103.47
    rCSI 95%
    PRS 11.74
  • CD14-low, CD16-positive monocyte CL0002396
    CSI 93.79
    rCSI 72.26%
    PRS 9.29
  • epithelial cell of lower respiratory tract CL0002632
    CSI 84.01
    rCSI 65.13%
    PRS 9.79
  • intestinal epithelial cell CL0002563
    CSI 70.3
    rCSI 73.47%
    PRS 10.85
  • myeloid leukocyte CL0000766
    CSI 67.41
    rCSI 62.2%
    PRS 10.42
  • CD14-positive, CD16-positive monocyte CL0002397
    CSI 65.99
    rCSI 86.46%
    PRS 14.36
  • alternatively activated macrophage CL0000890
    CSI 62.14
    rCSI 78.12%
    PRS 15.71
  • CD1c-positive myeloid dendritic cell CL0002399
    CSI 61.76
    rCSI 74.6%
    PRS 12.07
  • pulmonary alveolar type 2 cell CL0002063
    CSI 58.1
    rCSI 90.12%
    PRS 15.83
  • keratinocyte CL0000312
    CSI 57.18
    rCSI 47.93%
    PRS 12.29
  • colon epithelial cell CL0011108
    CSI 52.64
    rCSI 55.14%
    PRS 9.55
  • extravillous trophoblast CL0008036
    CSI 51.83
    rCSI 64.11%
    PRS 9.02
  • stem cell CL0000034
    CSI 51.11
    rCSI 49.28%
    PRS 6.85
  • alveolar macrophage CL0000583
    CSI 48.59
    rCSI 80.02%
    PRS 12.02
  • bronchus fibroblast of lung CL2000093
    CSI 46.8
    rCSI 38.03%
    PRS 10.88
  • epithelial cell of lung CL0000082
    CSI 45.26
    rCSI 37.52%
    PRS 9.71
  • fallopian tube secretory epithelial cell CL4030006
    CSI 43.2
    rCSI 41.59%
    PRS 10.61
  • Hofbauer cell CL3000001
    CSI 43.14
    rCSI 81.45%
    PRS 12.74
  • non-classical monocyte CL0000875
    CSI 42.54
    rCSI 68.19%
    PRS 32.31
  • M cell of gut CL0000682
    CSI 42.02
    rCSI 44.65%
    PRS 18.29
  • plasmacytoid dendritic cell CL0000784
    CSI 41.15
    rCSI 41.68%
    PRS 54.44
  • melanocyte CL0000148
    CSI 40.12
    rCSI 29.72%
    PRS 9.23
  • classical monocyte CL0000860
    CSI 39.83
    rCSI 59.05%
    PRS 67.08
  • pancreatic A cell CL0000171
    CSI 36.52
    rCSI 38.26%
    PRS 10.96
  • macrophage CL0000235
    CSI 34.97
    rCSI 63.61%
    PRS 41.69
  • mucous neck cell CL0000651
    CSI 34.32
    rCSI 49.46%
    PRS 16.54
  • transit amplifying cell of colon CL0009011
    CSI 33.42
    rCSI 39.25%
    PRS 12.19
  • intermediate monocyte CL0002393
    CSI 33.16
    rCSI 50.03%
    PRS 10.13
  • inflammatory macrophage CL0000863
    CSI 32.62
    rCSI 55.75%
    PRS 20.8
  • conventional dendritic cell CL0000990
    CSI 32.14
    rCSI 26.83%
    PRS 30.81
  • pancreatic D cell CL0000173
    CSI 32.1
    rCSI 31.58%
    PRS 11.18
  • mononuclear phagocyte CL0000113
    CSI 31.25
    rCSI 68.8%
    PRS 11.31
  • promonocyte CL0000559
    CSI 30.17
    rCSI 51.69%
    PRS 13.75
  • lung macrophage CL1001603
    CSI 30.04
    rCSI 67.1%
    PRS 11.64
  • dendritic cell, human CL0001056
    CSI 29.97
    rCSI 46.02%
    PRS 11.99
  • club cell CL0000158
    CSI 27.34
    rCSI 40.05%
    PRS 12
  • dendritic cell CL0000451
    CSI 26.69
    rCSI 32.89%
    PRS 33.22
  • ciliated epithelial cell CL0000067
    CSI 26.17
    rCSI 23.01%
    PRS 7.45
  • myeloid dendritic cell CL0000782
    CSI 26.04
    rCSI 37.73%
    PRS 15.15
  • multi-ciliated epithelial cell CL0005012
    CSI 25.48
    rCSI 25.42%
    PRS 8.82
  • Kupffer cell CL0000091
    CSI 25.09
    rCSI 57.37%
    PRS 9.95
  • common dendritic progenitor CL0001029
    CSI 24.59
    rCSI 30.86%
    PRS 13.11
  • kidney epithelial cell CL0002518
    CSI 24.08
    rCSI 45.97%
    PRS 24.47
  • enterocyte CL0000584
    CSI 23.46
    rCSI 37.82%
    PRS 16.45
  • skin fibroblast CL0002620
    CSI 22.68
    rCSI 19.55%
    PRS 16.77
  • monocyte CL0000576
    CSI 22.49
    rCSI 40.65%
    PRS 28.06
  • lung ciliated cell CL1000271
    CSI 22.06
    rCSI 25.51%
    PRS 7.53
  • fibroblast of lung CL0002553
    CSI 21.96
    rCSI 20.44%
    PRS 10.34
  • stromal cell of ovary CL0002132
    CSI 21.74
    rCSI 59.73%
    PRS 17.05
  • epithelial cell CL0000066
    CSI 20.68
    rCSI 31.78%
    PRS 14.67
  • transit amplifying cell CL0009010
    CSI 20.5
    rCSI 31.35%
    PRS 16.69
  • CD14-positive monocyte CL0001054
    CSI 20.09
    rCSI 25.03%
    PRS 14.67
  • colon macrophage CL0009038
    CSI 19.68
    rCSI 90.88%
    PRS 21.74
  • intestine goblet cell CL0019031
    CSI 19.21
    rCSI 17.05%
    PRS 10.28
  • keratocyte CL0002363
    CSI 18.35
    rCSI 44.12%
    PRS 15.55
  • ionocyte CL0005006
    CSI 18.29
    rCSI 19.6%
    PRS 9.43
  • pancreatic acinar cell CL0002064
    CSI 18.12
    rCSI 24.09%
    PRS 11.2
  • respiratory basal cell CL0002633
    CSI 17.14
    rCSI 17.76%
    PRS 12.08
  • goblet cell CL0000160
    CSI 17.12
    rCSI 16.18%
    PRS 10.72
  • lung interstitial macrophage CL4033043
    CSI 17.06
    rCSI 38.3%
    PRS 21.91
  • pancreatic PP cell CL0002275
    CSI 17.04
    rCSI 67.83%
    PRS 18.04
  • basal cell of prostate epithelium CL0002341
    CSI 16.96
    rCSI 49.06%
    PRS 22.9
  • nasal mucosa goblet cell CL0002480
    CSI 16.88
    rCSI 19.58%
    PRS 15.22
  • acinar cell CL0000622
    CSI 16.86
    rCSI 24.73%
    PRS 13.49
  • IgG plasma cell CL0000985
    CSI 16.72
    rCSI 20.03%
    PRS 17.67
  • IgA plasma cell CL0000987
    CSI 16.67
    rCSI 17.06%
    PRS 19.22
  • myeloid cell CL0000763
    CSI 16.36
    rCSI 67.38%
    PRS 37.43
  • alveolar adventitial fibroblast CL4028006
    CSI 16.05
    rCSI 25.34%
    PRS 10.27
  • plasma cell CL0000786
    CSI 15.9
    rCSI 20.84%
    PRS 46.04
  • pancreatic epsilon cell CL0005019
    CSI 15.69
    rCSI 73.14%
    PRS 24.96
  • secretory cell CL0000151
    CSI 15.01
    rCSI 15.66%
    PRS 10.54
  • type B pancreatic cell CL0000169
    CSI 14.98
    rCSI 33.16%
    PRS 9.54
  • Langerhans cell CL0000453
    CSI 14.94
    rCSI 22.82%
    PRS 17.94
  • conjunctival epithelial cell CL1000432
    CSI 14.93
    rCSI 22.81%
    PRS 10.3
  • basal cell CL0000646
    CSI 14.86
    rCSI 19.87%
    PRS 11.22
  • Mueller cell CL0000636
    CSI 14.37
    rCSI 32.8%
    PRS 9.16
  • hematopoietic stem cell CL0000037
    CSI 14.28
    rCSI 9.49%
    PRS 12.25
  • respiratory suprabasal cell CL4033048
    CSI 14.27
    rCSI 18.31%
    PRS 11.85
  • renal alpha-intercalated cell CL0005011
    CSI 13.98
    rCSI 18.69%
    PRS 13.69
  • promyelocyte CL0000836
    CSI 13.92
    rCSI 20.07%
    PRS 14.3
  • pancreatic stellate cell CL0002410
    CSI 13.76
    rCSI 80.09%
    PRS 15.43
  • CD14-positive, CD16-negative classical monocyte CL0002057
    CSI 13.62
    rCSI 82.38%
    PRS 23.12
  • cardiac muscle cell CL0000746
    CSI 13.57
    rCSI 19.47%
    PRS 8.16
  • granulocyte CL0000094
    CSI 13.55
    rCSI 20.71%
    PRS 12.96
  • colonocyte CL1000347
    CSI 13.38
    rCSI 19.18%
    PRS 14.11
  • endothelial cell of artery CL1000413
    CSI 13.34
    rCSI 19.54%
    PRS 49.54
  • granulocyte monocyte progenitor cell CL0000557
    CSI 13.21
    rCSI 11.44%
    PRS 11.44
  • duct epithelial cell CL0000068
    CSI 13.12
    rCSI 19.2%
    PRS 10.87
  • vein endothelial cell CL0002543
    CSI 13.04
    rCSI 35.6%
    PRS 41.41
  • colon goblet cell CL0009039
    CSI 12.5
    rCSI 29.72%
    PRS 15.45
  • plasmablast CL0000980
    CSI 12.32
    rCSI 9.69%
    PRS 12.18
  • pulmonary artery endothelial cell CL1001568
    CSI 12.29
    rCSI 16.73%
    PRS 15.76
  • mature NK T cell CL0000814
    CSI 11.84
    rCSI 15.15%
    PRS 42.28
  • memory B cell CL0000787
    CSI 11.71
    rCSI 11.56%
    PRS 40.22
  • myofibroblast cell CL0000186
    CSI 11.66
    rCSI 16.15%
    PRS 14.81
  • tracheal goblet cell CL1000329
    CSI 11.23
    rCSI 24.52%
    PRS 20.78
  • adventitial cell CL0002503
    CSI 11.12
    rCSI 26.55%
    PRS 16.2
  • early lymphoid progenitor CL0000936
    CSI 10.9
    rCSI 9.57%
    PRS 11.54
  • respiratory hillock cell CL4030023
    CSI 10.8
    rCSI 19.26%
    PRS 17.48
  • CD4-positive, alpha-beta thymocyte CL0000810
    CSI -13.9
    rCSI -11.2%
    PRS 18.6%
  • double negative thymocyte CL0002489
    CSI -11.4
    rCSI -7.9%
    PRS 12.0%
  • CD4-positive, CD25-positive, alpha-beta regulatory T cell CL0000792
    CSI -6.3
    rCSI -6.2%
    PRS 16.2%
  • vascular associated smooth muscle cell CL0000359
    CSI -4.6
    rCSI -15.0%
    PRS 12.6%
  • astrocyte of the cerebral cortex CL0002605
    CSI -3.9
    rCSI -8.8%
    PRS 6.3%
  • naive T cell CL0000898
    CSI -3.9
    rCSI -2.7%
    PRS 14.6%
  • innate lymphoid cell CL0001065
    CSI -3.8
    rCSI -7.8%
    PRS 15.9%
  • pulmonary capillary endothelial cell CL4028001
    CSI -3.2
    rCSI -6.0%
    PRS 16.5%
  • effector CD4-positive, alpha-beta T cell CL0001044
    CSI -3.1
    rCSI -9.0%
    PRS 14.9%
  • CD8-positive, CD28-negative, alpha-beta regulatory T cell CL0000920
    CSI -2.7
    rCSI -5.4%
    PRS 17.1%
  • cord blood hematopoietic stem cell CL2000095
    CSI -2.5
    rCSI -47.6%
    PRS 64.0%
  • neural progenitor cell CL0011020
    CSI -2.4
    rCSI -10.6%
    PRS 10.1%
  • CD4-positive, alpha-beta memory T cell CL0000897
    CSI -2.0
    rCSI -1.5%
    PRS 14.0%
  • class switched memory B cell CL0000972
    CSI -1.9
    rCSI -1.4%
    PRS 17.2%
  • cerebral cortex endothelial cell CL1001602
    CSI -1.6
    rCSI -2.7%
    PRS 7.8%
  • group 3 innate lymphoid cell CL0001071
    CSI -1.4
    rCSI -1.0%
    PRS 10.6%
  • squamous epithelial cell CL0000076
    CSI -0.6
    rCSI -1.5%
    PRS 13.1%
  • peripheral nervous system neuron CL2000032
    CSI -0.6
    rCSI -0.8%
    PRS 9.2%
  • Cajal-Retzius cell CL0000695
    CSI -0.2
    rCSI -1.2%
    PRS 22.7%
  • platelet CL0000233
    CSI -0.1
    rCSI -0.3%
    PRS 23.4%
  • B-2 B cell CL0000822
    CSI 0.2
    rCSI 3.2%
    PRS 52.9%
  • endocardial cell CL0002350
    CSI 0.2
    rCSI 0.8%
    PRS 14.0%
  • helper T cell CL0000912
    CSI 0.3
    rCSI 0.4%
    PRS 14.6%
  • serous secreting cell of bronchus submucosal gland CL4033005
    CSI 0.3
    rCSI 1.7%
    PRS 40.9%
  • eosinophil CL0000771
    CSI 0.3
    rCSI 2.0%
    PRS 26.7%
  • ventricular cardiac muscle cell CL2000046
    CSI 0.3
    rCSI 1.2%
    PRS 41.4%
  • exhausted T cell CL0011025
    CSI 0.4
    rCSI 6.0%
    PRS 41.6%
  • cytotoxic T cell CL0000910
    CSI 0.4
    rCSI 2.0%
    PRS 15.1%
  • smooth muscle cell of prostate CL1000487
    CSI 0.4
    rCSI 2.1%
    PRS 44.2%
  • endothelial cell of placenta CL0009092
    CSI 0.4
    rCSI 1.9%
    PRS 14.0%
  • corneal epithelial cell CL0000575
    CSI 0.4
    rCSI 1.1%
    PRS 18.6%
  • lung microvascular endothelial cell CL2000016
    CSI 0.4
    rCSI 8.4%
    PRS 33.5%
  • L6b glutamatergic cortical neuron CL4023038
    CSI 0.5
    rCSI 1.5%
    PRS 6.5%
  • thymocyte CL0000893
    CSI 0.5
    rCSI 1.7%
    PRS 32.3%
  • transitional stage B cell CL0000818
    CSI 0.5
    rCSI 1.7%
    PRS 29.8%
  • mesenchymal lymphangioblast CL0005021
    CSI 0.6
    rCSI 14.4%
    PRS 48.7%
  • antibody secreting cell CL0000946
    CSI 0.6
    rCSI 2.5%
    PRS 41.7%
  • CD8-positive, alpha-beta cytotoxic T cell CL0000794
    CSI 0.6
    rCSI 0.7%
    PRS 17.8%
  • retina horizontal cell CL0000745
    CSI 0.7
    rCSI 1.1%
    PRS 9.6%
  • memory T cell CL0000813
    CSI 0.8
    rCSI 1.6%
    PRS 23.0%
  • neuroendocrine cell CL0000165
    CSI 0.8
    rCSI 3.3%
    PRS 21.5%
  • natural T-regulatory cell CL0000903
    CSI 0.9
    rCSI 1.6%
    PRS 28.3%
  • central memory CD8-positive, alpha-beta T cell CL0000907
    CSI 0.9
    rCSI 0.6%
    PRS 12.3%
  • effector memory CD8-positive, alpha-beta T cell, terminally differentiated CL0001062
    CSI 1.0
    rCSI 4.8%
    PRS 13.4%
  • syncytiotrophoblast cell CL0000525
    CSI 1.0
    rCSI 2.8%
    PRS 20.2%
  • fraction A pre-pro B cell CL0002045
    CSI 1.1
    rCSI 1.2%
    PRS 21.1%
  • pre-conventional dendritic cell CL0002010
    CSI 1.1
    rCSI 15.1%
    PRS 33.8%
  • enteroendocrine cell of small intestine CL0009006
    CSI 1.2
    rCSI 2.5%
    PRS 15.7%
  • uterine smooth muscle cell CL0002601
    CSI 1.2
    rCSI 8.0%
    PRS 58.3%
  • endothelial cell of periportal hepatic sinusoid CL0019021
    CSI 1.2
    rCSI 5.6%
    PRS 30.5%
  • parietal cell CL0000162
    CSI 1.3
    rCSI 10.9%
    PRS 53.7%
  • interneuron CL0000099
    CSI 1.3
    rCSI 2.7%
    PRS 7.6%
  • endothelial cell of vascular tree CL0002139
    CSI 1.3
    rCSI 7.3%
    PRS 19.2%
  • erythroblast CL0000765
    CSI 1.4
    rCSI 3.7%
    PRS 17.2%
  • retinal ganglion cell CL0000740
    CSI 1.4
    rCSI 3.1%
    PRS 7.4%
  • brush cell CL0002204
    CSI 1.4
    rCSI 2.8%
    PRS 27.9%
  • pluripotent stem cell CL0002248
    CSI 1.4
    rCSI 43.3%
    PRS 23.9%
  • enterocyte of epithelium of small intestine CL1000334
    CSI 1.5
    rCSI 22.6%
    PRS 25.6%
  • follicular B cell CL0000843
    CSI 1.5
    rCSI 5.4%
    PRS 41.2%
  • acinar cell of salivary gland CL0002623
    CSI 1.5
    rCSI 35.1%
    PRS 18.0%
  • small intestine goblet cell CL1000495
    CSI 1.5
    rCSI 3.3%
    PRS 13.8%
  • kidney loop of Henle epithelial cell CL1000909
    CSI 1.5
    rCSI 32.5%
    PRS 63.8%
  • myelocyte CL0002193
    CSI 1.6
    rCSI 10.6%
    PRS 33.2%
  • Merkel cell CL0000242
    CSI 1.7
    rCSI 38.5%
    PRS 62.3%
  • paneth cell CL0000510
    CSI 1.7
    rCSI 2.5%
    PRS 16.2%
  • enteroglial cell CL4040002
    CSI 1.7
    rCSI 8.8%
    PRS 19.9%
  • luminal epithelial cell of mammary gland CL0002326
    CSI 1.7
    rCSI 3.1%
    PRS 15.7%
  • mesenchymal stem cell CL0000134
    CSI 1.7
    rCSI 18.6%
    PRS 18.7%
  • blood vessel smooth muscle cell CL0019018
    CSI 1.7
    rCSI 14.1%
    PRS 10.7%
  • lymphoid lineage restricted progenitor cell CL0000838
    CSI 1.7
    rCSI 6.8%
    PRS 16.9%
  • adipocyte CL0000136
    CSI 1.8
    rCSI 2.3%
    PRS 10.8%
  • vasa recta ascending limb cell CL1001131
    CSI 1.9
    rCSI 8.4%
    PRS 39.1%
  • IgM plasma cell CL0000986
    CSI 1.9
    rCSI 8.5%
    PRS 48.0%
  • vasa recta descending limb cell CL1001285
    CSI 1.9
    rCSI 15.1%
    PRS 42.5%
  • airway submucosal gland duct basal cell CL4033024
    CSI 1.9
    rCSI 12.2%
    PRS 34.0%
  • stratified epithelial cell CL0000079
    CSI 1.9
    rCSI 11.9%
    PRS 42.8%
  • myeloid lineage restricted progenitor cell CL0000839
    CSI 2.0
    rCSI 10.1%
    PRS 20.3%
  • tracheobronchial smooth muscle cell CL0019019
    CSI 2.0
    rCSI 3.5%
    PRS 13.6%
  • mammary gland epithelial cell CL0002327
    CSI 2.0
    rCSI 7.1%
    PRS 18.6%
  • kidney resident macrophage CL1000698
    CSI 2.0
    rCSI 40.1%
    PRS 79.5%
  • hair follicular keratinocyte CL2000092
    CSI 2.0
    rCSI 35.0%
    PRS 41.1%
  • unswitched memory B cell CL0000970
    CSI 2.1
    rCSI 1.8%
    PRS 16.7%
  • tuft cell of colon CL0009041
    CSI 2.1
    rCSI 5.0%
    PRS 22.9%
  • erythroid progenitor cell CL0000038
    CSI 2.2
    rCSI 12.4%
    PRS 15.9%
  • tracheobronchial goblet cell CL0019003
    CSI 2.2
    rCSI 34.8%
    PRS 74.9%
  • small pre-B-II cell CL0000954
    CSI 2.2
    rCSI 2.1%
    PRS 21.5%
  • retinal cone cell CL0000573
    CSI 2.2
    rCSI 3.6%
    PRS 7.9%
  • fibroblast of breast CL4006000
    CSI 2.2
    rCSI 9.4%
    PRS 27.1%
  • paneth cell of epithelium of small intestine CL1000343
    CSI 2.3
    rCSI 6.4%
    PRS 16.0%
  • kidney loop of Henle thin ascending limb epithelial cell CL1001107
    CSI 2.3
    rCSI 5.9%
    PRS 9.6%
  • basal-myoepithelial cell of mammary gland CL0002324
    CSI 2.3
    rCSI 4.4%
    PRS 22.4%
  • central memory CD4-positive, alpha-beta T cell CL0000904
    CSI 2.4
    rCSI 1.4%
    PRS 14.2%
  • epithelial cell of urethra CL1000296
    CSI 2.5
    rCSI 63.0%
    PRS 33.8%
  • rod bipolar cell CL0000751
    CSI 2.5
    rCSI 4.5%
    PRS 8.6%
  • hematopoietic multipotent progenitor cell CL0000837
    CSI 2.7
    rCSI 6.4%
    PRS 16.3%
  • kidney connecting tubule epithelial cell CL1000768
    CSI 2.7
    rCSI 6.7%
    PRS 7.9%
  • CD4-positive, alpha-beta cytotoxic T cell CL0000934
    CSI 2.7
    rCSI 3.7%
    PRS 21.4%
  • forebrain radial glial cell CL0013000
    CSI 2.7
    rCSI 8.8%
    PRS 15.1%
  • P/D1 enteroendocrine cell CL0002268
    CSI 2.8
    rCSI 15.0%
    PRS 25.8%
  • enterocyte of epithelium of large intestine CL0002071
    CSI 2.8
    rCSI 14.6%
    PRS 18.9%

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Comma-separated if multiple.
Comma-separated if multiple.

Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [NPC2](/details-gene/10577) (NPC Intracellular Cholesterol Transporter 2) is a protein-coding gene located on chromosome 14q24.3. It encodes a soluble lysosomal protein that plays a central role in the transport of cholesterol and other lipids. Functionally, [NPC2](/details-gene/10577) binds cholesterol that has been liberated from lipoproteins and facilitates its egress from the lysosome, a critical step in maintaining cellular cholesterol homeostasis ([Link](https://doi.org/10.1073/pnas.0807328105)). Mutations in this gene are the cause of Niemann-Pick disease, type C2, a fatal neurovisceral lipid storage disorder ([OMIM: 601015](https://omim.org/entry/601015)) ([Link](https://doi.org/10.1126/science.290.5500.2298)). Expression data from the **Overall** context indicates that [NPC2](/details-gene/10577) is most significantly expressed in myeloid lineage cells of the innate immune system, such as [plasmacytoid dendritic cell, human](/details-cell/CL0001058) and various macrophage populations, as well as in specialized epithelial cells, suggesting a key function at the interface of lipid metabolism and host defense. ## Cellular Roles and Expression Landscape **Overall**, the expression profile of [NPC2](/details-gene/10577) highlights its importance in cells with high metabolic and phagocytic activity, particularly within the innate immune system. The gene shows the highest significance in [plasmacytoid dendritic cell, human](/details-cell/CL0001058) (CSI: 105.49) and [elicited macrophage](/details-cell/CL0000861) (CSI: 103.47). Its prominence extends across the monocyte-macrophage lineage, including [CD14-low, CD16-positive monocyte](/details-cell/CL0002396), [alternatively activated macrophage](/details-cell/CL0000890), and [alveolar macrophage](/details-cell/CL0000583). This pattern suggests a fundamental role for [NPC2](/details-gene/10577) in processing lipids derived from pathogens, cellular debris, and lipoproteins within these professional phagocytes. Beyond the immune system, [NPC2](/details-gene/10577) is also a significant marker in several types of epithelial cells, including [epithelial cell of lower respiratory tract](/details-cell/CL0002632) (CSI: 84.01), [intestinal epithelial cell](/details-cell/CL0002563) (CSI: 70.30), and [pulmonary alveolar type 2 cell](/details-cell/CL0002063) (CSI: 58.10). These cells are actively involved in lipid secretion and barrier function, indicating a broader role for [NPC2](/details-gene/10577) in tissue-specific lipid management. Conversely, [NPC2](/details-gene/10577) shows minimal to negative significance in cells of the adaptive immune system, such as [CD4-positive, alpha-beta thymocyte](/details-cell/CL0000810) (CSI: -13.92) and various T cell subsets. It is also notably absent from structural cells like [vascular associated smooth muscle cell](/details-cell/CL0000359) and neural cells like [astrocyte of the cerebral cortex](/details-cell/CL0002605). This restricted expression pattern underscores its specialized function in lipid trafficking within specific myeloid and epithelial compartments, rather than a ubiquitous housekeeping role. ## Pathways and Molecular Function The molecular functions of [NPC2](/details-gene/10577) are centered on lipid handling, consistent with its cellular expression profile. Gene Ontology annotations confirm its role in biological processes such as [Cholesterol efflux](/details-gene/GO:0033344), [Intracellular cholesterol transport](/details-gene/GO:0032367), and [Cholesterol homeostasis](/details-gene/GO:0042632). Its primary molecular functions are defined as [Cholesterol binding](/details-gene/GO:0015485) and [Cholesterol transfer activity](/details-gene/GO:0120020). Cell component annotations place the protein in the [Lysosomal lumen](/details-gene/GO:0043202) and the [Extracellular region](/details-gene/GO:0005576), which aligns with its established mechanism of action within lysosomes and its potential for secretion. Reactome pathway analysis further integrates these functions into a broader physiological context. [NPC2](/details-gene/10577)'s involvement in the [Innate immune system](/details-gene/R-HSA-168249) and [Neutrophil degranulation](/details-gene/R-HSA-6798695) pathways directly corresponds to its high expression in macrophages and dendritic cells. Concurrently, its participation in [Ldl clearance](/details-gene/R-HSA-8964038) and [Plasma lipoprotein clearance](/details-gene/R-HSA-8964043) explains its role in processing externally-derived lipids. This dual involvement highlights [NPC2](/details-gene/10577) as a molecular link between lipid metabolism and innate immunity. ## Research Directions The specific expression pattern and established function of [NPC2](/details-gene/10577) provide a basis for several testable hypotheses regarding its role in health and disease. 1. **Hypothesis 1:** Given its high expression in [plasmacytoid dendritic cell, human](/details-cell/CL0001058) and its annotated role in the [Response to virus](/details-gene/GO:0009615), [NPC2](/details-gene/10577)-mediated cholesterol trafficking is essential for an effective type I interferon response. Disruption of [NPC2](/details-gene/10577) function may impair the assembly of viral sensing platforms on endosomal membranes, thereby compromising antiviral immunity. 2. **Hypothesis 2:** In [pulmonary alveolar type 2 cell](/details-cell/CL0002063), [NPC2](/details-gene/10577) is critical for the proper formation and secretion of pulmonary surfactant. Its dysfunction could lead to a surfactant-deficient state, contributing to respiratory distress syndromes by altering the lipid composition of secreted materials. 3. **Hypothesis 3:** In macrophages, [NPC2](/details-gene/10577) may regulate inflammatory responses by controlling cholesterol flux, which is known to influence inflammasome activation and the integrity of lipid rafts required for cytokine signaling. Impaired cholesterol egress due to [NPC2](/details-gene/10577) deficiency may lead to an exaggerated or unresolved inflammatory state. **Experimental Approach:** To test Hypothesis 1, one could utilize a CRISPR-Cas9 knockout of [NPC2](/details-gene/10577) in a human pDC-like cell line or in primary monocytes differentiated into dendritic cells. These cells would then be challenged with a panel of viruses that rely on endosomal entry (e.g., Influenza A, Dengue virus). The impact of [NPC2](/details-gene/10577) deletion would be assessed by quantifying viral replication (via RT-qPCR or plaque assay) and measuring the production of type I interferons (e.g., IFN-alpha) and other key cytokines using ELISA or multiplex assays. Changes in endolysosomal morphology and cholesterol accumulation could be visualized using filipin staining and confocal microscopy. **Therapeutic Potential:** As the genetic basis for Niemann-Pick disease type C2, [NPC2](/details-gene/10577) is a clear target for replacement or activation therapies. The primary therapeutic strategy would involve restoring its function in affected cells. This could potentially be achieved through enzyme replacement therapy (ERT) using recombinant [NPC2](/details-gene/10577) protein, substrate reduction therapy, or gene therapy aimed at delivering a functional copy of the [NPC2](/details-gene/10577) gene. Inhibition of [NPC2](/details-gene/10577) is not a viable strategy as its loss-of-function is the direct cause of pathology.

Genular Protein ID: 3510106812

Symbol: NPC2_HUMAN

Name: Epididymal secretory protein E1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8418812

Title: Region-specific variation of gene expression in the human epididymis as revealed by in situ hybridization with tissue-specific cDNAs.

PubMed ID: 8418812

DOI: 10.1002/mrd.1080340104

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12508121

Title: The DNA sequence and analysis of human chromosome 14.

PubMed ID: 12508121

DOI: 10.1038/nature01348

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17018531

Title: NPC2, the protein deficient in Niemann-Pick C2 disease, consists of multiple glycoforms that bind a variety of sterols.

PubMed ID: 17018531

DOI: 10.1074/jbc.m608743200

PubMed ID: 11125141

Title: Identification of HE1 as the second gene of Niemann-Pick C disease.

PubMed ID: 11125141

DOI: 10.1126/science.290.5500.2298

PubMed ID: 15110773

Title: In vivo interaction between the human dehydrodolichyl diphosphate synthase and the Niemann-Pick C2 protein revealed by a yeast two-hybrid system.

PubMed ID: 15110773

DOI: 10.1016/j.bbrc.2004.04.007

PubMed ID: 16548883

Title: Transcriptomic and proteomic analyses of rhabdomyosarcoma cells reveal differential cellular gene expression in response to enterovirus 71 infection.

PubMed ID: 16548883

DOI: 10.1111/j.1462-5822.2005.00644.x

PubMed ID: 18823126

Title: Regulation of sterol transport between membranes and NPC2.

PubMed ID: 18823126

DOI: 10.1021/bi801328u

PubMed ID: 18772377

Title: NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes.

PubMed ID: 18772377

DOI: 10.1073/pnas.0807328105

PubMed ID: 19664597

Title: Identification of NPC2 protein as interaction molecule with C2 domain of human Nedd4L.

PubMed ID: 19664597

DOI: 10.1016/j.bbrc.2009.07.158

PubMed ID: 19723497

Title: Nogo-B receptor stabilizes Niemann-Pick type C2 protein and regulates intracellular cholesterol trafficking.

PubMed ID: 19723497

DOI: 10.1016/j.cmet.2009.07.003

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21315718

Title: NPC2 regulates biliary cholesterol secretion via stimulation of ABCG5/G8-mediated cholesterol transport.

PubMed ID: 21315718

DOI: 10.1053/j.gastro.2011.01.050

PubMed ID: 22095670

Title: Novel function of Niemann-Pick C1-like 1 as a negative regulator of Niemann-Pick C2 protein.

PubMed ID: 22095670

DOI: 10.1002/hep.24772

PubMed ID: 18832164

Title: NPC1/NPC2 function as a tag team duo to mobilize cholesterol.

PubMed ID: 18832164

DOI: 10.1073/pnas.0808256105

PubMed ID: 19232397

Title: Niemann-Pick C2 (NPC2) and intracellular cholesterol trafficking.

PubMed ID: 19232397

DOI: 10.1016/j.bbalip.2009.02.001

PubMed ID: 20674853

Title: Transfer of cholesterol by the NPC team.

PubMed ID: 20674853

DOI: 10.1016/j.cmet.2010.07.004

PubMed ID: 21412152

Title: Function of the Niemann-Pick type C proteins and their bypass by cyclodextrin.

PubMed ID: 21412152

DOI: 10.1097/mol.0b013e3283453e69

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 27238017

Title: Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection.

PubMed ID: 27238017

DOI: 10.1016/j.cell.2016.05.022

PubMed ID: 29580834

Title: Niemann-Pick C2 protein regulates sterol transport between plasma membrane and late endosomes in human fibroblasts.

PubMed ID: 29580834

DOI: 10.1016/j.chemphyslip.2018.03.006

PubMed ID: 27551080

Title: Clues to the mechanism of cholesterol transfer from the structure of NPC1 middle lumenal domain bound to NPC2.

PubMed ID: 27551080

DOI: 10.1073/pnas.1611956113

PubMed ID: 11567215

Title: Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.

PubMed ID: 11567215

DOI: 10.1086/324068

PubMed ID: 12447927

Title: Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2.

PubMed ID: 12447927

DOI: 10.1002/ana.10366

PubMed ID: 12955717

Title: Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.

PubMed ID: 12955717

DOI: 10.1002/humu.10255

PubMed ID: 15937921

Title: Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations.

PubMed ID: 15937921

DOI: 10.1002/humu.20173

PubMed ID: 16126423

Title: Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.

PubMed ID: 16126423

DOI: 10.1016/j.ymgme.2005.07.007

Sequence Information:

  • Length: 151
  • Mass: 16570
  • Checksum: B141B611805DC910
  • Sequence:
  • MRFLAATFLL LALSTAAQAE PVQFKDCGSV DGVIKEVNVS PCPTQPCQLS KGQSYSVNVT 
    FTSNIQSKSS KAVVHGILMG VPVPFPIPEP DGCKSGINCP IQKDKTYSYL NKLPVKSEYP 
    SIKLVVEWQL QDDKNQSLFC WEIPVQIVSH L