Details for: NBEA

Gene ID: 26960

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: NBEA

Ensembl ID: ENSG00000172915

Description: neurobeachin

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

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

  • VIP GABAergic cortical interneuron CL4023016
    CSI 63.48
    rCSI 75.83%
    PRS 70.91
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 61.02
    rCSI 75.91%
    PRS 68.57
  • sst GABAergic cortical interneuron CL4023017
    CSI 60.54
    rCSI 78.05%
    PRS 71.93
  • sncg GABAergic cortical interneuron CL4023015
    CSI 48.44
    rCSI 77.91%
    PRS 72.14
  • cerebellar granule cell CL0001031
    CSI 44.53
    rCSI 65.47%
    PRS 80.1
  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 43.55
    rCSI 73.11%
    PRS 70.76
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 42.15
    rCSI 74.44%
    PRS 70.28
  • choroid plexus epithelial cell CL0000706
    CSI 39.1
    rCSI 64.03%
    PRS 77.64
  • inhibitory interneuron CL0000498
    CSI 36.43
    rCSI 84.1%
    PRS 75.78
  • goblet cell CL0000160
    CSI 36.34
    rCSI 34.34%
    PRS 84.35
  • interneuron CL0000099
    CSI 35.46
    rCSI 71.19%
    PRS 78.67
  • differentiation-committed oligodendrocyte precursor CL4023059
    CSI 35.18
    rCSI 63.91%
    PRS 78.72
  • L2/3 intratelencephalic projecting glutamatergic neuron CL4030059
    CSI 33.4
    rCSI 72.45%
    PRS 74.6
  • ependymal cell CL0000065
    CSI 33.39
    rCSI 67.74%
    PRS 66.88
  • L4 intratelencephalic projecting glutamatergic neuron CL4030063
    CSI 31.49
    rCSI 75.31%
    PRS 74.43
  • retinal bipolar neuron CL0000748
    CSI 30.87
    rCSI 57.81%
    PRS 76.39
  • neuron CL0000540
    CSI 29.89
    rCSI 79.59%
    PRS 73.84
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 29.46
    rCSI 71.59%
    PRS 68.59
  • oligodendrocyte precursor cell CL0002453
    CSI 28.7
    rCSI 63.16%
    PRS 68.84
  • retinal cone cell CL0000573
    CSI 27.54
    rCSI 44.33%
    PRS 77.62
  • adipocyte CL0000136
    CSI 27.17
    rCSI 34.89%
    PRS 77.2
  • kidney loop of Henle thin descending limb epithelial cell CL1001111
    CSI 27.1
    rCSI 38.41%
    PRS 83.49
  • lung secretory cell CL1000272
    CSI 26.44
    rCSI 65.44%
    PRS 86.76
  • chandelier pvalb GABAergic cortical interneuron CL4023036
    CSI 24.42
    rCSI 76.37%
    PRS 74.42
  • cardiac muscle cell CL0000746
    CSI 24.23
    rCSI 34.77%
    PRS 77.44
  • glycinergic amacrine cell CL4030028
    CSI 23.74
    rCSI 61.85%
    PRS 80.31
  • L6b glutamatergic cortical neuron CL4023038
    CSI 23.72
    rCSI 74.14%
    PRS 72.23
  • enteroendocrine cell CL0000164
    CSI 23.44
    rCSI 32.03%
    PRS 85.19
  • L5/6 near-projecting glutamatergic neuron CL4030067
    CSI 22.67
    rCSI 74.5%
    PRS 73.35
  • glutamatergic neuron CL0000679
    CSI 22.61
    rCSI 46.47%
    PRS 73.72
  • rod bipolar cell CL0000751
    CSI 22.52
    rCSI 40.46%
    PRS 80.62
  • amacrine cell CL0000561
    CSI 20.97
    rCSI 60.76%
    PRS 76.88
  • neural crest cell CL0011012
    CSI 20.57
    rCSI 16.26%
    PRS 77.31
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 19.86
    rCSI 71.46%
    PRS 68.74
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 19.64
    rCSI 74.22%
    PRS 71.14
  • radial glial cell CL0000681
    CSI 18.57
    rCSI 25.8%
    PRS 84.6
  • neuroblast (sensu Nematoda and Protostomia) CL0000338
    CSI 18.53
    rCSI 21.4%
    PRS 78.74
  • neuroblast (sensu Vertebrata) CL0000031
    CSI 18.24
    rCSI 23.41%
    PRS 82.58
  • GABAergic amacrine cell CL4030027
    CSI 17.66
    rCSI 60.49%
    PRS 72.85
  • enteric smooth muscle cell CL0002504
    CSI 17.27
    rCSI 24.65%
    PRS 86.72
  • S cone cell CL0003050
    CSI 17.19
    rCSI 75.56%
    PRS 81.07
  • epithelial cell of lower respiratory tract CL0002632
    CSI 17.15
    rCSI 13.3%
    PRS 89.45
  • fibroblast of lung CL0002553
    CSI 17.14
    rCSI 15.95%
    PRS 87.19
  • intestinal tuft cell CL0019032
    CSI 16.93
    rCSI 25.88%
    PRS 88.79
  • bronchus fibroblast of lung CL2000093
    CSI 16.78
    rCSI 13.63%
    PRS 85.68
  • vascular leptomeningeal cell CL4023051
    CSI 16.18
    rCSI 28.37%
    PRS 81.56
  • retinal rod cell CL0000604
    CSI 16.14
    rCSI 28.44%
    PRS 81.89
  • peripheral nervous system neuron CL2000032
    CSI 14.92
    rCSI 20.33%
    PRS 78.94
  • respiratory basal cell CL0002633
    CSI 14.92
    rCSI 15.45%
    PRS 88.93
  • tracheal goblet cell CL1000329
    CSI 14.84
    rCSI 32.4%
    PRS 90.37
  • OFFx cell CL4033036
    CSI 14.29
    rCSI 67.23%
    PRS 76.89
  • GABAergic neuron CL0000617
    CSI 14.24
    rCSI 47.7%
    PRS 71.28
  • progenitor cell CL0011026
    CSI 14.21
    rCSI 30.22%
    PRS 80.22
  • neural cell CL0002319
    CSI 13.73
    rCSI 51.82%
    PRS 69.91
  • retinal ganglion cell CL0000740
    CSI 13.69
    rCSI 30.24%
    PRS 73.96
  • kidney interstitial alternatively activated macrophage CL1000695
    CSI 13.59
    rCSI 35.41%
    PRS 87.6
  • central nervous system macrophage CL0000878
    CSI 13.22
    rCSI 43.82%
    PRS 89.16
  • cerebral cortex neuron CL0010012
    CSI 12.93
    rCSI 52.68%
    PRS 78.44
  • regular atrial cardiac myocyte CL0002129
    CSI 12.83
    rCSI 41.31%
    PRS 83.16
  • renal interstitial pericyte CL1001318
    CSI 12.5
    rCSI 34.46%
    PRS 82.51
  • epithelial cell of proximal tubule CL0002306
    CSI 12.49
    rCSI 30.5%
    PRS 79.11
  • secretory cell CL0000151
    CSI 12.43
    rCSI 12.97%
    PRS 85.32
  • glioblast CL0000030
    CSI 12.29
    rCSI 19.6%
    PRS 78.3
  • diffuse bipolar 6 cell CL4033032
    CSI 12.21
    rCSI 64.19%
    PRS 76.32
  • corticothalamic-projecting glutamatergic cortical neuron CL4023013
    CSI 12.19
    rCSI 71.78%
    PRS 71.3
  • blood vessel endothelial cell CL0000071
    CSI 12.18
    rCSI 25.28%
    PRS 83.82
  • kidney loop of Henle thin ascending limb epithelial cell CL1001107
    CSI 12.1
    rCSI 31.28%
    PRS 82.71
  • H2 horizontal cell CL0004218
    CSI 11.55
    rCSI 57.41%
    PRS 80.66
  • kidney connecting tubule epithelial cell CL1000768
    CSI 11.52
    rCSI 29.21%
    PRS 78.47
  • cerebral cortex endothelial cell CL1001602
    CSI 11.43
    rCSI 19.77%
    PRS 79.49
  • neural progenitor cell CL0011020
    CSI 11.19
    rCSI 49.21%
    PRS 74.96
  • nasal mucosa goblet cell CL0002480
    CSI 11.11
    rCSI 12.88%
    PRS 88.15
  • invaginating midget bipolar cell CL4033034
    CSI 10.92
    rCSI 64.5%
    PRS 77.48
  • melanocyte CL0000148
    CSI 10.72
    rCSI 7.94%
    PRS 81.35
  • flat midget bipolar cell CL4033033
    CSI 10.48
    rCSI 74.91%
    PRS 76.62
  • serotonergic neuron CL0000850
    CSI 10.36
    rCSI 46.26%
    PRS 71.01
  • renal principal cell CL0005009
    CSI 10.27
    rCSI 26.68%
    PRS 86.02
  • macroglial cell CL0000126
    CSI 10.17
    rCSI 26.15%
    PRS 82.47
  • cerebral cortex GABAergic interneuron CL0010011
    CSI 10.14
    rCSI 29.94%
    PRS 86.87
  • Schwann cell CL0002573
    CSI 10.07
    rCSI 28.64%
    PRS 82.04
  • cardiac neuron CL0010022
    CSI 10.06
    rCSI 32.2%
    PRS 84.28
  • duct epithelial cell CL0000068
    CSI 10.05
    rCSI 14.7%
    PRS 90.29
  • BEST4+ enteroycte CL4030026
    CSI 10.02
    rCSI 12.46%
    PRS 86.49
  • hepatic stellate cell CL0000632
    CSI 10.02
    rCSI 37.52%
    PRS 80.3
  • basket cell CL0000118
    CSI 9.97
    rCSI 62.48%
    PRS 65.5
  • diffuse bipolar 3a cell CL4033029
    CSI 9.86
    rCSI 67.11%
    PRS 78.22
  • Mueller cell CL0000636
    CSI 9.78
    rCSI 22.32%
    PRS 78.86
  • central nervous system neuron CL2000029
    CSI 9.72
    rCSI 71.47%
    PRS 75.7
  • pulmonary alveolar type 2 cell CL0002063
    CSI 9.61
    rCSI 14.91%
    PRS 88.35
  • fibroblast of cardiac tissue CL0002548
    CSI 9.53
    rCSI 45.63%
    PRS 86.64
  • Bergmann glial cell CL0000644
    CSI 9.41
    rCSI 12.88%
    PRS 78.04
  • basal cell CL0000646
    CSI 9.29
    rCSI 12.42%
    PRS 83.92
  • diffuse bipolar 3b cell CL4033030
    CSI 9.24
    rCSI 61.33%
    PRS 80.45
  • diffuse bipolar 1 cell CL4033027
    CSI 9.16
    rCSI 68.82%
    PRS 75.79
  • mononuclear phagocyte CL0000113
    CSI 9.04
    rCSI 19.89%
    PRS 89.09
  • pulmonary alveolar type 1 cell CL0002062
    CSI 9.03
    rCSI 52.05%
    PRS 82.86
  • ciliated cell CL0000064
    CSI 9.02
    rCSI 14.61%
    PRS 80.95
  • dopaminergic neuron CL0000700
    CSI 8.8
    rCSI 49.74%
    PRS 73.93
  • parietal epithelial cell CL1000452
    CSI 8.77
    rCSI 23.44%
    PRS 79.48
  • type L enteroendocrine cell CL0002279
    CSI 8.72
    rCSI 16.37%
    PRS 89.83
  • respiratory goblet cell CL0002370
    CSI 0.3
    rCSI 2.8%
    PRS 91.0%
  • enteric neuron CL0007011
    CSI 0.5
    rCSI 8.0%
    PRS 89.3%
  • cone retinal bipolar cell CL0000752
    CSI 0.7
    rCSI 8.6%
    PRS 84.6%
  • tracheobronchial serous cell CL0019001
    CSI 0.8
    rCSI 3.3%
    PRS 90.3%
  • acinar cell of salivary gland CL0002623
    CSI 1.1
    rCSI 24.8%
    PRS 93.5%
  • pancreatic PP cell CL0002275
    CSI 1.1
    rCSI 4.6%
    PRS 91.0%
  • corneal epithelial cell CL0000575
    CSI 1.2
    rCSI 3.3%
    PRS 89.7%
  • deuterosomal cell CL4033044
    CSI 1.2
    rCSI 4.0%
    PRS 82.1%
  • mesenchymal cell CL0008019
    CSI 1.3
    rCSI 3.4%
    PRS 80.2%
  • type B pancreatic cell CL0000169
    CSI 1.6
    rCSI 3.6%
    PRS 86.1%
  • neuroplacodal cell CL0000032
    CSI 1.7
    rCSI 15.7%
    PRS 84.9%
  • forebrain radial glial cell CL0013000
    CSI 1.8
    rCSI 5.8%
    PRS 86.6%
  • stromal cell of ovary CL0002132
    CSI 1.9
    rCSI 5.2%
    PRS 90.6%
  • kidney distal convoluted tubule epithelial cell CL1000849
    CSI 2.1
    rCSI 22.0%
    PRS 82.5%
  • cholangiocyte CL1000488
    CSI 2.1
    rCSI 12.8%
    PRS 86.8%
  • bronchial goblet cell CL1000312
    CSI 2.3
    rCSI 9.1%
    PRS 90.9%
  • melanocyte of skin CL1000458
    CSI 2.4
    rCSI 3.3%
    PRS 54.8%
  • cardiac blood vessel endothelial cell CL0010006
    CSI 2.6
    rCSI 18.2%
    PRS 79.8%
  • pancreatic D cell CL0000173
    CSI 2.6
    rCSI 2.6%
    PRS 88.1%
  • suprabasal keratinocyte CL4033013
    CSI 2.7
    rCSI 4.4%
    PRS 54.8%
  • enteroglial cell CL4040002
    CSI 2.8
    rCSI 14.6%
    PRS 86.9%
  • indirect pathway medium spiny neuron CL4023029
    CSI 2.8
    rCSI 68.0%
    PRS 69.0%
  • direct pathway medium spiny neuron CL4023026
    CSI 2.9
    rCSI 68.2%
    PRS 68.6%
  • hepatocyte CL0000182
    CSI 2.9
    rCSI 5.2%
    PRS 85.5%
  • neuroendocrine cell CL0000165
    CSI 3.0
    rCSI 11.4%
    PRS 91.4%
  • OFF midget ganglion cell CL4033047
    CSI 3.0
    rCSI 60.2%
    PRS 77.5%
  • ON midget ganglion cell CL4033046
    CSI 3.0
    rCSI 61.2%
    PRS 76.6%
  • stromal cell CL0000499
    CSI 3.1
    rCSI 8.7%
    PRS 81.6%
  • pancreatic A cell CL0000171
    CSI 3.2
    rCSI 3.4%
    PRS 88.8%
  • Cajal-Retzius cell CL0000695
    CSI 3.3
    rCSI 26.1%
    PRS 88.9%
  • cerebral cortex pyramidal neuron CL4023111
    CSI 3.4
    rCSI 20.7%
    PRS 88.6%
  • GABAergic interneuron CL0011005
    CSI 3.6
    rCSI 56.5%
    PRS 87.2%
  • ciliated columnar cell of tracheobronchial tree CL0002145
    CSI 3.6
    rCSI 8.3%
    PRS 79.5%
  • podocyte CL0000653
    CSI 3.7
    rCSI 16.5%
    PRS 86.9%
  • respiratory suprabasal cell CL4033048
    CSI 3.8
    rCSI 4.9%
    PRS 88.6%
  • blood vessel smooth muscle cell CL0019018
    CSI 4.1
    rCSI 33.0%
    PRS 82.1%
  • tuft cell of colon CL0009041
    CSI 4.1
    rCSI 9.5%
    PRS 89.7%
  • cerebellar neuron CL1001611
    CSI 4.3
    rCSI 37.5%
    PRS 74.2%
  • brain vascular cell CL4023072
    CSI 4.3
    rCSI 44.3%
    PRS 80.1%
  • eye photoreceptor cell CL0000287
    CSI 4.3
    rCSI 48.6%
    PRS 90.5%
  • regular ventricular cardiac myocyte CL0002131
    CSI 4.4
    rCSI 27.6%
    PRS 79.3%
  • ON parasol ganglion cell CL4033052
    CSI 4.5
    rCSI 63.1%
    PRS 78.1%
  • midbrain dopaminergic neuron CL2000097
    CSI 4.6
    rCSI 29.3%
    PRS 81.1%
  • endothelial cell of vascular tree CL0002139
    CSI 4.6
    rCSI 25.1%
    PRS 82.6%
  • basophil CL0000767
    CSI 4.6
    rCSI 9.7%
    PRS 93.5%
  • brush cell of tracheobronchial tree CL0002075
    CSI 4.7
    rCSI 13.9%
    PRS 92.9%
  • glial cell CL0000125
    CSI 4.7
    rCSI 17.9%
    PRS 78.5%
  • pancreatic ductal cell CL0002079
    CSI 4.8
    rCSI 9.2%
    PRS 88.7%
  • intestinal crypt stem cell of small intestine CL0009017
    CSI 4.9
    rCSI 13.1%
    PRS 89.3%
  • ON-bipolar cell CL0000749
    CSI 4.9
    rCSI 7.2%
    PRS 85.8%
  • enteroendocrine cell of small intestine CL0009006
    CSI 5.0
    rCSI 11.0%
    PRS 90.9%
  • mucus secreting cell CL0000319
    CSI 5.1
    rCSI 8.2%
    PRS 92.2%
  • renal beta-intercalated cell CL0002201
    CSI 5.3
    rCSI 12.5%
    PRS 86.3%
  • diffuse bipolar 4 cell CL4033031
    CSI 5.4
    rCSI 61.3%
    PRS 74.5%
  • contractile cell CL0000183
    CSI 5.4
    rCSI 16.1%
    PRS 85.4%
  • endothelial cell of pericentral hepatic sinusoid CL0019022
    CSI 5.5
    rCSI 16.8%
    PRS 89.0%
  • retina horizontal cell CL0000745
    CSI 5.6
    rCSI 8.5%
    PRS 83.4%
  • stem cell CL0000034
    CSI 5.6
    rCSI 5.4%
    PRS 81.2%
  • keratocyte CL0002363
    CSI 5.6
    rCSI 13.5%
    PRS 88.0%
  • kidney loop of Henle thick ascending limb epithelial cell CL1001106
    CSI 5.7
    rCSI 48.9%
    PRS 80.9%
  • alveolar macrophage CL0000583
    CSI 5.7
    rCSI 9.4%
    PRS 89.1%
  • ionocyte CL0005006
    CSI 5.9
    rCSI 6.4%
    PRS 88.2%
  • lung ciliated cell CL1000271
    CSI 6.0
    rCSI 6.9%
    PRS 79.9%
  • basal cell of epidermis CL0002187
    CSI 6.1
    rCSI 10.9%
    PRS 56.1%
  • retinal pigment epithelial cell CL0002586
    CSI 6.2
    rCSI 12.3%
    PRS 82.4%
  • lung neuroendocrine cell CL1000223
    CSI 6.3
    rCSI 9.3%
    PRS 88.7%
  • squamous epithelial cell CL0000076
    CSI 6.4
    rCSI 15.1%
    PRS 84.9%
  • acinar cell CL0000622
    CSI 6.5
    rCSI 9.5%
    PRS 93.2%
  • OFF-bipolar cell CL0000750
    CSI 6.5
    rCSI 8.9%
    PRS 86.5%
  • mesothelial cell CL0000077
    CSI 6.5
    rCSI 25.4%
    PRS 66.8%
  • H1 horizontal cell CL0004217
    CSI 6.5
    rCSI 25.9%
    PRS 80.7%
  • lung pericyte CL0009089
    CSI 6.7
    rCSI 17.7%
    PRS 91.1%
  • conjunctival epithelial cell CL1000432
    CSI 6.8
    rCSI 10.3%
    PRS 86.1%
  • mesangial cell CL0000650
    CSI 6.9
    rCSI 27.9%
    PRS 92.4%
  • multi-ciliated epithelial cell CL0005012
    CSI 7.0
    rCSI 6.9%
    PRS 80.6%
  • airway submucosal gland duct basal cell CL4033024
    CSI 7.1
    rCSI 45.1%
    PRS 89.0%
  • endocardial cell CL0002350
    CSI 7.1
    rCSI 33.9%
    PRS 82.4%
  • myoepithelial cell CL0000185
    CSI 7.2
    rCSI 18.1%
    PRS 89.6%
  • mature astrocyte CL0002627
    CSI 7.2
    rCSI 30.5%
    PRS 79.6%
  • tracheobronchial smooth muscle cell CL0019019
    CSI 7.2
    rCSI 12.7%
    PRS 89.9%
  • microglial cell CL0000129
    CSI 7.7
    rCSI 31.1%
    PRS 85.7%
  • retinal blood vessel endothelial cell CL0002585
    CSI 7.8
    rCSI 12.4%
    PRS 89.4%
  • medial ganglionic eminence derived interneuron CL4023063
    CSI 7.8
    rCSI 77.6%
    PRS 48.3%
  • chondrocyte CL0000138
    CSI 7.8
    rCSI 12.4%
    PRS 80.6%
  • starburst amacrine cell CL0004232
    CSI 8.0
    rCSI 67.1%
    PRS 73.4%
  • Kupffer cell CL0000091
    CSI 8.0
    rCSI 18.3%
    PRS 87.3%
  • ciliated epithelial cell CL0000067
    CSI 8.1
    rCSI 7.1%
    PRS 76.8%
  • diffuse bipolar 2 cell CL4033028
    CSI 8.1
    rCSI 63.1%
    PRS 79.4%
  • cardiac endothelial cell CL0010008
    CSI 8.2
    rCSI 32.9%
    PRS 86.7%
  • medium spiny neuron CL1001474
    CSI 8.5
    rCSI 72.8%
    PRS 76.3%
  • fallopian tube secretory epithelial cell CL4030006
    CSI 8.6
    rCSI 8.3%
    PRS 85.4%
  • astrocyte of the cerebral cortex CL0002605
    CSI 8.7
    rCSI 19.4%
    PRS 71.6%
  • type L enteroendocrine cell CL0002279
    CSI 8.7
    rCSI 16.4%
    PRS 89.8%
  • parietal epithelial cell CL1000452
    CSI 8.8
    rCSI 23.4%
    PRS 79.5%
  • dopaminergic neuron CL0000700
    CSI 8.8
    rCSI 49.7%
    PRS 73.9%
  • ciliated cell CL0000064
    CSI 9.0
    rCSI 14.6%
    PRS 81.0%
  • pulmonary alveolar type 1 cell CL0002062
    CSI 9.0
    rCSI 52.1%
    PRS 82.9%
  • mononuclear phagocyte CL0000113
    CSI 9.0
    rCSI 19.9%
    PRS 89.1%
  • diffuse bipolar 1 cell CL4033027
    CSI 9.2
    rCSI 68.8%
    PRS 75.8%
  • diffuse bipolar 3b cell CL4033030
    CSI 9.2
    rCSI 61.3%
    PRS 80.5%

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 [NBEA](/details-gene/26960), or neurobeachin, is a protein-coding gene located on chromosome 13q13.3. It functions primarily as a lysosomal-trafficking regulator involved in protein localization and kinase binding. Its expression is particularly prominent within the central nervous system, where it is a significant marker for numerous neuronal subtypes, especially various classes of GABAergic cortical interneurons and cerebellar granule cells. Functionally, [NBEA](/details-gene/26960) is integral to numerous neuronal signaling cascades, including those mediated by NMDA receptors and G-protein coupled receptors. Mutations in [NBEA](/details-gene/26960) have been associated with developmental disorders characterized by early-onset generalized epilepsy, highlighting its critical role in maintaining proper neuronal excitability and synaptic function ([Link](https://doi.org/10.1002/ana.25350)). ## Cellular Roles and Expression Landscape The expression profile of [NBEA](/details-gene/26960) strongly indicates a specialized role in the nervous system. **Overall**, the gene shows the highest significance in a diverse array of inhibitory neurons, including [VIP GABAergic cortical interneuron](/details-cell/CL4023016), [pvalb GABAergic cortical interneuron](/details-cell/CL4023018), [sst GABAergic cortical interneuron](/details-cell/CL4023017), and [lamp5 GABAergic cortical interneuron](/details-cell/CL4023011). Its high significance extends to other key neuronal populations such as [cerebellar granule cell](/details-cell/CL0001031)s and specific glutamatergic neurons, like [L2/3 intratelencephalic projecting glutamatergic neuron](/details-cell/CL4030059). Beyond neurons, [NBEA](/details-gene/26960) is also significantly expressed in related cell types that support brain function, such as [choroid plexus epithelial cell](/details-cell/CL0000706)s, [differentiation-committed oligodendrocyte precursor](/details-cell/CL4023059)s, and [ependymal cell](/details-cell/CL0000065)s. The collective expression pattern establishes [NBEA](/details-gene/26960) as a crucial component for the development, maintenance, and function of complex neural circuits. The notable, though lower, expression in [goblet cell](/details-cell/CL0000160)s suggests potential, albeit less characterized, functions outside the central nervous system. ## Pathways and Molecular Function The molecular functions of [NBEA](/details-gene/26960) are deeply intertwined with synaptic transmission and intracellular signaling. Gene Ontology annotations place it within the 'endomembrane system' ([GO:0012505](https://www.ebi.ac.uk/QuickGO/term/GO:0012505)) and at the 'plasma membrane' ([GO:0005886](https://www.ebi.ac.uk/QuickGO/term/GO:0005886)), where it participates in 'protein localization' ([GO:0008104](https://www.ebi.ac.uk/QuickGO/term/GO:0008104)) and 'protein kinase binding' ([GO:0019901](https://www.ebi.ac.uk/QuickGO/term/GO:0019901)). This functional profile is consistent with its extensive involvement in Reactome pathways that govern neuronal communication. [NBEA](/details-gene/26960) is a component of the overarching 'Neuronal System' pathway ([R-HSA-112316](https://reactome.org/content/detail/R-HSA-112316)) and is specifically implicated in 'Transmission across chemical synapses' ([R-HSA-112315](https://reactome.org/content/detail/R-HSA-112315)). Its role in synaptic plasticity is highlighted by its participation in the 'Activation of NMDA receptors and postsynaptic events' ([R-HSA-442755](https://reactome.org/content/detail/R-HSA-442755)). Furthermore, [NBEA](/details-gene/26960) is linked to multiple G-protein coupled receptor (GPCR) signaling cascades, including 'Signaling by GPCR' ([R-HSA-372790](https://reactome.org/content/detail/R-HSA-372790)) and 'Opioid signalling' ([R-HSA-111885](https://reactome.org/content/detail/R-HSA-111885)), suggesting it acts as a key regulator of postsynaptic signal transduction in response to neurotransmitters and neuromodulators. ## Research Directions Given the association of [NBEA](/details-gene/26960) with epilepsy ([Link](https://doi.org/10.1002/ana.25350)) and its fundamental role in neuronal signaling, future research should focus on elucidating the precise mechanisms by which its dysfunction leads to network hyperexcitability. Investigating how its expression and function are altered in different models of epilepsy and other neurological disorders would be a critical step. Based on the available data, several testable hypotheses can be proposed: 1. Disruption of [NBEA](/details-gene/26960) function preferentially impairs the trafficking and stable surface expression of NMDA-type glutamate receptors in cortical interneurons. This leads to reduced inhibitory tone and a net excitatory/inhibitory imbalance that underlies seizure susceptibility. 2. [NBEA](/details-gene/26960) acts as a critical scaffolding protein at the postsynaptic density, organizing signaling complexes for both ionotropic (NMDA) and metabotropic (GPCR) receptors. Its loss destabilizes these complexes, leading to aberrant signal integration and synaptic dysfunction. To test the first hypothesis, a compelling experimental approach would be to utilize CRISPR-Cas9 to knock down [NBEA](/details-gene/26960) in human iPSC-derived cortical interneurons. The impact on NMDA receptor localization and abundance at the neuronal surface could be quantified using super-resolution microscopy and surface biotinylation assays. The functional consequences could then be directly assessed using patch-clamp electrophysiology to measure changes in NMDA receptor-mediated synaptic currents and cellular firing properties. From a therapeutic standpoint, [NBEA](/details-gene/26960) represents a challenging target. Since its pathogenic variants are associated with loss-of-function, therapeutic strategies would need to focus on **activation** or functional restoration rather than inhibition. Potential long-term avenues could include gene therapy to restore NBEA protein levels in affected neurons or the development of small-molecule chaperones or stabilizers that enhance the function of the remaining or mutated protein.

Genular Protein ID: 4098454167

Symbol: NBEA_HUMAN

Name: Lysosomal-trafficking regulator 2

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 12160729

Title: BCL8 is a novel, evolutionarily conserved human gene family encoding proteins with presumptive protein kinase A anchoring function.

PubMed ID: 12160729

DOI: 10.1006/geno.2002.6822

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15057823

Title: The DNA sequence and analysis of human chromosome 13.

PubMed ID: 15057823

DOI: 10.1038/nature02379

PubMed ID: 10997877

Title: Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

PubMed ID: 10997877

DOI: 10.1093/dnares/7.4.271

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 12234919

Title: Crystal structure of the BEACH domain reveals an unusual fold and extensive association with a novel PH domain.

PubMed ID: 12234919

DOI: 10.1093/emboj/cdf502

PubMed ID: 30269351

Title: NBEA: Developmental disease gene with early generalized epilepsy phenotypes.

PubMed ID: 30269351

DOI: 10.1002/ana.25350

Sequence Information:

  • Length: 2946
  • Mass: 327822
  • Checksum: 2E371FDA2F00781E
  • Sequence:
  • MASEKPGPGP GLEPQPVGLI AVGAAGGGGG GSGGGGTGGS GMGELRGASG SGSVMLPAGM 
    INPSVPIRNI RMKFAVLIGL IQVGEVSNRD IVETVLNLLV GGEFDLEMNF IIQDAESITC 
    MTELLEHCDV TCQAEIWSMF TAILRKSVRN LQTSTEVGLI EQVLLKMSAV DDMIADLLVD 
    MLGVLASYSI TVKELKLLFS MLRGESGIWP RHAVKLLSVL NQMPQRHGPD TFFNFPGCSA 
    AAIALPPIAK WPYQNGFTLN TWFRMDPLNN INVDKDKPYL YCFRTSKGVG YSAHFVGNCL 
    IVTSLKSKGK GFQHCVKYDF QPRKWYMISI VHIYNRWRNS EIRCYVNGQL VSYGDMAWHV 
    NTNDSYDKCF LGSSETADAN RVFCGQLGAV YVFSEALNPA QIFAIHQLGP GYKSTFKFKS 
    ESDIHLAEHH KQVLYDGKLA SSIAFTYNAK ATDAQLCLES SPKENASIFV HSPHALMLQD 
    VKAIVTHSIH SAIHSIGGIQ VLFPLFAQLD NRQLNDSQVE TTVCATLLAF LVELLKSSVA 
    MQEQMLGGKG FLVIGYLLEK SSRVHITRAV LEQFLSFAKY LDGLSHGAPL LKQLCDHILF 
    NPAIWIHTPA KVQLSLYTYL SAEFIGTATI YTTIRRVGTV LQLMHTLKYY YWVINPADSS 
    GITPKGLDGP RPSQKEIISL RAFMLLFLKQ LILKDRGVKE DELQSILNYL LTMHEDENIH 
    DVLQLLVALM SEHPASMIPA FDQRNGIRVI YKLLASKSES IWVQALKVLG YFLKHLGHKR 
    KVEIMHTHSL FTLLGERLML HTNTVTVTTY NTLYEILTEQ VCTQVVHKPH PEPDSTVKIQ 
    NPMILKVVAT LLKNSTPSAE LMEVRRLFLS DMIKLFSNSR ENRRCLLQCS VWQDWMFSLG 
    YINPKNSEEQ KITEMVYNIF RILLYHAIKY EWGGWRVWVD TLSIAHSKVT YEAHKEYLAK 
    MYEEYQRQEE ENIKKGKKGN VSTISGLSSQ TTGAKGGMEI REIEDLSQSQ SPESETDYPV 
    STDTRDLLMS TKVSDDILGN SDRPGSGVHV EVHDLLVDIK AEKVEATEVK LDDMDLSPET 
    LVGGENGALV EVESLLDNVY SAAVEKLQNN VHGSVGIIKK NEEKDNGPLI TLADEKEDLP 
    NSSTSFLFDK IPKQEEKLLP ELSSNHIIPN IQDTQVHLGV SDDLGLLAHM TGSVDLTCTS 
    SIIEEKEFKI HTTSDGMSSI SERDLASSTK GLEYAEMTAT TLETESSSSK IVPNIDAGSI 
    ISDTERSDDG KESGKEIRKI QTTTTTQAVQ GRSITQQDRD LRVDLGFRGM PMTEEQRRQF 
    SPGPRTTMFR IPEFKWSPMH QRLLTDLLFA LETDVHVWRS HSTKSVMDFV NSNENIIFVH 
    NTIHLISQMV DNIIIACGGI LPLLSAATSP TGSKTELENI EVTQGMSAET AVTFLSRLMA 
    MVDVLVFASS LNFSEIEAEK NMSSGGLMRQ CLRLVCCVAV RNCLECRQRQ RDRGNKSSHG 
    SSKPQEVPQS VTATAASKTP LENVPGNLSP IKDPDRLLQD VDINRLRAVV FRDVDDSKQA 
    QFLALAVVYF ISVLMVSKYR DILEPQRETT RTGSQPGRNI RQEINSPTST VVVIPSIPHP 
    SLNHGFLAKL IPEQSFGHSF YKETPAAFPD TIKEKETPTP GEDIQVESSI PHTDSGIGEE 
    QVASILNGAE LETSTGPDAM SELLSTLSSE VKKSQESLTE NPSETLKPAT SISSISQTKG 
    INVKEILKSL VAAPVEIAEC GPEPIPYPDP ALKRETQAIL PMQFHSFDRS VVVPVKKPPP 
    GSLAVTTVGA TTAGSGLPTG STSNIFAATG ATPKSMINTT GAVDSGSSSS SSSSSFVNGA 
    TSKNLPAVQT VAPMPEDSAE NMSITAKLER ALEKVAPLLR EIFVDFAPFL SRTLLGSHGQ 
    ELLIEGLVCM KSSTSVVELV MLLCSQEWQN SIQKNAGLAF IELINEGRLL CHAMKDHIVR 
    VANEAEFILN RQRAEDVHKH AEFESQCAQY AADRREEEKM CDHLISAAKH RDHVTANQLK 
    QKILNILTNK HGAWGAVSHS QLHDFWRLDY WEDDLRRRRR FVRNAFGSTH AEALLKAAIE 
    YGTEEDVVKS KKTFRSQAIV NQNAETELML EGDDDAVSLL QEKEIDNLAG PVVLSTPAQL 
    IAPVVVAKGT LSITTTEIYF EVDEDDSAFK KIDTKVLAYT EGLHGKWMFS EIRAVFSRRY 
    LLQNTALEVF MANRTSVMFN FPDQATVKKV VYSLPRVGVG TSYGLPQARR ISLATPRQLY 
    KSSNMTQRWQ RREISNFEYL MFLNTIAGRT YNDLNQYPVF PWVLTNYESE ELDLTLPGNF 
    RDLSKPIGAL NPKRAVFYAE RYETWEDDQS PPYHYNTHYS TATSTLSWLV RIEPFTTFFL 
    NANDGKFDHP DRTFSSVARS WRTSQRDTSD VKELIPEFYY LPEMFVNSNG YNLGVREDEV 
    VVNDVDLPPW AKKPEDFVRI NRMALESEFV SCQLHQWIDL IFGYKQRGPE AVRALNVFHY 
    LTYEGSVNLD SITDPVLREA MEAQIQNFGQ TPSQLLIEPH PPRSSAMHLC FLPQSPLMFK 
    DQMQQDVIMV LKFPSNSPVT HVAANTLPHL TIPAVVTVTC SRLFAVNRWH NTVGLRGAPG 
    YSLDQAHHLP IEMDPLIANN SGVNKRQITD LVDQSIQINA HCFVVTADNR YILICGFWDK 
    SFRVYSTETG KLTQIVFGHW DVVTCLARSE SYIGGDCYIV SGSRDATLLL WYWSGRHHII 
    GDNPNSSDYP APRAVLTGHD HEVVCVSVCA ELGLVISGAK EGPCLVHTIT GDLLRALEGP 
    ENCLFPRLIS VSSEGHCIIY YERGRFSNFS INGKLLAQME INDSTRAILL SSDGQNLVTG 
    GDNGVVEVWQ ACDFKQLYIY PGCDAGIRAM DLSHDQRTLI TGMASGSIVA FNIDFNRWHY 
    EHQNRY

Genular Protein ID: 1122869558

Symbol: B3KXQ8_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 1558
  • Mass: 173087
  • Checksum: 77F416F15A881CB4
  • Sequence:
  • MVDNIIIACG GILPLLSAAT SPTGSKTELE NIEVTQGMSA ETAVTFLSRL MAMVDVLVFA 
    SSLNFSEIEA EKNMSSGGLM RQCLRLVCCV AVRNCLECRQ RQRDRGNKSS HGSSKPQEVP 
    QSVTATAASK TPLENVPGNL SPIKDPDRLL QDVDINRLRA VVFRDVDDSK QAQFLALAVV 
    YFISVLMVSK YRDILEPQRE TTRTGSQPGR NIRQEINSPT STVVVIPSIP HPSLNHGFLA 
    KLIPEQSFGH SFYKETPAAF PDTIKEKETP TPGEDIQVES SIPHTDSGIG EEQVASILNG 
    AELETSTGPD AMSELLSTLS SEVKKSQESL TENPSETLKP ATSISSISQT KGINVKEILK 
    SLVAAPVEIA ECGPEPIPYP DPALKRETQA ILPMQFHSFD RSVVVPVKKP PPGSLAVTTV 
    GATTAGSGLP TGSTSNIFAA TGATPKSMIN TTGAVDSGSS SSSSSSSFVN GATSKNLPAV 
    QTVAPMPEDS AENMSITAKL ERALEKVAPL LREIFVDFAP FLSRTLLGSH GQELLIEGLV 
    CMKSSTSVVE LVMLLCSQEW QNSIQKNAGL AFIELINEGR LLCHAMKDHI VRVANEAEFI 
    LNRQRAEDVH KHAEFESQCA QYAADRREEE KMCDHLISAA KHRDHVTANQ LKQKILNILT 
    NKHGAWGAVS HSQLHDFWRL DYWEDDLRRR RRFVRNAFGS THAEALLKAA IEYGTEEDVV 
    KSKKTFRSQA IVNQNAETEL MLEGDDDAVS LLQEKEIDNL AGPVVLSTPA QLIAPVVVAK 
    GTLSITTTEI YFEVDEDDSA FKKIDTKVLA YTEGLHGKWM FSEIRAVFSR RYLLQNTALE 
    VFMANRTSVM FNFPGQATVK KVVYSLPRVG VGTSYGLPQA RRISLATPRQ LYKSSNMTQR 
    WQRREISNFE YLMFLNTIAG RTYNDLNQYP VFPWVLTNYE SEELDLTLPG NFRDLSKPIG 
    ALNPKRAVFY AERYETWEDD QSPPYHYNTH YSTATSTLSW LVRIEPFTTF FLNANDGKFD 
    HPDRTFSSVA RSWRTSQRDT SDVKELIPEF YYLPEMFVNS NGYNLGVRED EVVVNDVDLP 
    PWAKKPEDFV RINRMALESE FVSCQLHQWI DLIFGYKQRG PEAVRALNVF HYLTYEGSVN 
    LDSITDPVLR EAMEAQIQNF GQTPSQLLIE PHPPRSSAMH LCFLPQSPLM FKDQMQQDVI 
    MVLKFPSNSP VTHVAANTLP HLTIPAVVTV TCSRLFAVNR WHNTVGLRGA PGYSLDQAHH 
    LPIEMDPLIA NNSGVNKRQI TDLVDQSIQI NAHCFVVTAD NRYILICGFW DKSFRVYSTE 
    TGKLTQIVFG HWDVVTCLAR SESYIGGDCY IVSGSRDATL LLWYWSGRHH IIGDNPNSSD 
    YPAPRAVLTG YDHEVVCVSV CAELGLVISG AKEGPCLVHT ITGDLLRALE GPENCLFPRL 
    ISVSSEGHCI IYYERGRFSN FSINGKLLAQ MEINDSTRAI LLSSDGQNLV TGGDNGVVEV 
    WQACDFKQLY IYPGCDAGIR AMDLSHDQRT LITGMASGSI VAFNIDFNRW HYEHQNRY