Homo sapiens

48 known processes

NPC2

Niemann-Pick disease, type C2

(Aliases: EDDM1,HE1,MGC1333)

NPC2 biological process predictions


Filter by process size:
Biological process GO term ID Process size Probability Func Analog Org
regulation of rubidium ion transport GO:2000680 3 0.843
response to thyroid hormone GO:0097066 9 0.635
regulation of peptidase activity GO:0052547 180 0.592
determination of adult lifespan GO:0008340 2 0.459
regulation of blood vessel remodeling GO:0060312 2 0.412
rubidium ion transport GO:0035826 4 0.378
protein maturation GO:0051604 233 0.334
cellular amide metabolic process GO:0043603 69 0.302
epithelium development GO:0060429 227 0.301
response to bacterium GO:0009617 144 0.293
peptide catabolic process GO:0043171 10 0.272
regulation of protein processing GO:0070613 150 0.272
regulation of proteolysis GO:0030162 293 0.269
protein processing GO:0016485 226 0.262
cellular response to thyroid hormone stimulus GO:0097067 9 0.262
collagen catabolic process GO:0030574 10 0.255
negative regulation of glycoprotein metabolic process GO:1903019 8 0.248
detection of chemical stimulus involved in sensory perception of taste GO:0050912 31 0.238
regulation of metalloenzyme activity GO:0048552 3 0.237
multicellular organismal aging GO:0010259 3 0.216
kinin cascade GO:0002254 1 0.215
regulation of vesicle mediated transport GO:0060627 130 0.215
detection of chemical stimulus GO:0009593 55 0.191
regulation of endopeptidase activity GO:0052548 170 0.187
epithelial cell differentiation GO:0030855 141 0.185
apoptotic signaling pathway GO:0097190 268 0.175
response to other organism GO:0051707 261 0.171
negative regulation of endopeptidase activity GO:0010951 84 0.159
negative regulation of blood vessel remodeling GO:0060313 1 0.158
response to lipid GO:0033993 206 0.156
antigen processing and presentation of peptide antigen GO:0048002 18 0.154
oogenesis GO:0048477 2 0.153
defense response GO:0006952 315 0.152
vesicle mediated transport GO:0016192 371 0.148
regulation of integrin mediated signaling pathway GO:2001044 3 0.148
epithelium migration GO:0090132 119 0.146
elastin catabolic process GO:0060309 1 0.141
negative regulation of elastin catabolic process GO:0060311 1 0.140
regulation of elastin catabolic process GO:0060310 1 0.139
autophagy GO:0006914 88 0.138
negative regulation of cell death GO:0060548 345 0.136
ameboidal type cell migration GO:0001667 135 0.131
negative regulation of protein metabolic process GO:0051248 391 0.130
negative regulation of proteolysis GO:0045861 132 0.128
single organism membrane organization GO:0044802 268 0.128
regulation of protein maturation GO:1903317 150 0.128
negative regulation of collagen catabolic process GO:0010711 1 0.126
detection of chemical stimulus involved in sensory perception GO:0050907 33 0.124
innate immune response GO:0045087 178 0.122
vasculature development GO:0001944 181 0.116
negative regulation of hydrolase activity GO:0051346 182 0.116
negative regulation of cellular protein metabolic process GO:0032269 353 0.110
post embryonic development GO:0009791 2 0.107
carbohydrate metabolic process GO:0005975 207 0.104
anatomical structure homeostasis GO:0060249 100 0.102
locomotory behavior GO:0007626 1 0.102
blood vessel morphogenesis GO:0048514 162 0.101
antigen processing and presentation GO:0019882 33 0.097
response to hormone GO:0009725 175 0.097
neurological system process GO:0050877 163 0.096
cytokine production GO:0001816 247 0.095
response to biotic stimulus GO:0009607 276 0.095
negative regulation of catalytic activity GO:0043086 335 0.095
angiogenesis GO:0001525 147 0.094
mating GO:0007618 1 0.091
immune effector process GO:0002252 159 0.087
signal transduction by phosphorylation GO:0023014 297 0.086
negative regulation of metalloenzyme activity GO:0048553 1 0.083
response to external biotic stimulus GO:0043207 261 0.079
response to wounding GO:0009611 168 0.079
regulation of cell motility GO:2000145 299 0.078
negative regulation of peptidase activity GO:0010466 91 0.078
negative regulation of trophoblast cell migration GO:1901164 3 0.077
detection of biotic stimulus GO:0009595 21 0.077
regulation of locomotion GO:0040012 329 0.076
peptide metabolic process GO:0006518 51 0.076
negative regulation of membrane protein ectodomain proteolysis GO:0051045 4 0.075
negative regulation of protein maturation GO:1903318 142 0.074
female gamete generation GO:0007292 2 0.072
negative regulation of protein processing GO:0010955 142 0.071
gtp metabolic process GO:0046039 239 0.069
regulation of cellular component movement GO:0051270 334 0.069
regulation of cell migration GO:0030334 289 0.068
sensory perception of taste GO:0050909 36 0.068
sensory perception of chemical stimulus GO:0007606 38 0.067
cellular macromolecule catabolic process GO:0044265 380 0.067
positive regulation of organelle organization GO:0010638 195 0.065
regulation of apoptotic signaling pathway GO:2001233 175 0.064
positive regulation of t cell tolerance induction GO:0002666 2 0.062
negative regulation of programmed cell death GO:0043069 321 0.061
multicellular organismal homeostasis GO:0048871 67 0.061
epithelial cell migration GO:0010631 119 0.060
cellular metal ion homeostasis GO:0006875 146 0.057
immune response GO:0006955 307 0.057
regulation of defense response GO:0031347 154 0.056
negative regulation of cell proliferation GO:0008285 228 0.055
system process GO:0003008 349 0.053
membrane organization GO:0061024 292 0.052
defense response to bacterium GO:0042742 63 0.050
cellular response to endogenous stimulus GO:0071495 336 0.049
detection of stimulus GO:0051606 85 0.048
cell development GO:0048468 328 0.048
anatomical structure formation involved in morphogenesis GO:0048646 284 0.047
retina homeostasis GO:0001895 42 0.047
tissue migration GO:0090130 119 0.047
single organism reproductive process GO:0044702 98 0.047
g protein coupled receptor signaling pathway coupled to cyclic nucleotide second messenger GO:0007187 43 0.046
organelle fusion GO:0048284 36 0.046
angiogenesis involved in wound healing GO:0060055 4 0.046
tissue homeostasis GO:0001894 63 0.045
negative regulation of multicellular organismal metabolic process GO:0044252 3 0.045
mapk cascade GO:0000165 288 0.044
extrinsic apoptotic signaling pathway GO:0097191 119 0.044
vesicle organization GO:0016050 62 0.044
tissue regeneration GO:0042246 3 0.043
neuronal action potential GO:0019228 9 0.043
basement membrane organization GO:0071711 3 0.043
negative regulation of cell migration GO:0030336 102 0.042
cellular response to hormone stimulus GO:0032870 125 0.042
xenobiotic metabolic process GO:0006805 28 0.041
regeneration GO:0031099 4 0.041
regulation of purine nucleotide metabolic process GO:1900542 264 0.041
cellular response to lipid GO:0071396 127 0.040
hematopoietic or lymphoid organ development GO:0048534 186 0.040
blood vessel development GO:0001568 172 0.040
endothelial cell migration GO:0043542 86 0.040
regulation of cell differentiation GO:0045595 393 0.040
regulation of protein catabolic process GO:0042176 155 0.040
lipid metabolic process GO:0006629 381 0.039
positive regulation of transport GO:0051050 336 0.039
positive regulation of ras gtpase activity GO:0032320 117 0.039
positive regulation of cysteine type endopeptidase activity involved in apoptotic process GO:0043280 69 0.038
positive regulation of catabolic process GO:0009896 310 0.037
single organism membrane fusion GO:0044801 37 0.037
cell activation GO:0001775 213 0.037
proteolysis involved in cellular protein catabolic process GO:0051603 244 0.037
ganglioside catabolic process GO:0006689 3 0.036
circulatory system development GO:0072359 262 0.036
regulation of vascular endothelial growth factor signaling pathway GO:1900746 6 0.035
transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 181 0.035
guanosine containing compound metabolic process GO:1901068 244 0.035
regulation of multi organism process GO:0043900 157 0.035
hemopoiesis GO:0030097 180 0.034
negative regulation of cellular catabolic process GO:0031330 83 0.034
negative regulation of cell motility GO:2000146 104 0.034
response to axon injury GO:0048678 1 0.034
sensory perception of bitter taste GO:0050913 28 0.033
regulation of secretion GO:0051046 194 0.033
protein localization to membrane GO:0072657 160 0.033
negative regulation of serine type peptidase activity GO:1902572 2 0.033
regulation of collagen catabolic process GO:0010710 3 0.033
positive regulation of cell motility GO:2000147 177 0.033
response to xenobiotic stimulus GO:0009410 30 0.033
extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 42 0.033
protein tetramerization GO:0051262 47 0.033
endosomal transport GO:0016197 129 0.033
regulation of secretion by cell GO:1903530 177 0.033
leukocyte mediated immunity GO:0002443 59 0.032
peripheral nervous system development GO:0007422 2 0.032
regulation of i kappab kinase nf kappab signaling GO:0043122 162 0.032
regulation of response to external stimulus GO:0032101 222 0.032
membrane raft assembly GO:0001765 7 0.031
regulation of gtpase activity GO:0043087 180 0.031
cell adhesion GO:0007155 325 0.031
regulation of phospholipase a2 activity GO:0032429 4 0.031
response to inorganic substance GO:0010035 127 0.031
defense response to other organism GO:0098542 129 0.031
prostate gland development GO:0030850 3 0.030
regulation of natural killer cell mediated immunity GO:0002715 16 0.030
eye pigmentation GO:0048069 1 0.030
leukocyte differentiation GO:0002521 98 0.030
single organism carbohydrate metabolic process GO:0044723 193 0.030
ribonucleoside triphosphate catabolic process GO:0009203 391 0.030
protein catabolic process GO:0030163 325 0.030
purine ribonucleotide catabolic process GO:0009154 404 0.030
cellular component morphogenesis GO:0032989 314 0.029
cation transport GO:0006812 331 0.029
positive regulation of programmed cell death GO:0043068 249 0.029
chemical homeostasis GO:0048878 306 0.029
neuromuscular process GO:0050905 15 0.029
negative regulation of multicellular organismal process GO:0051241 317 0.029
multicellular organismal metabolic process GO:0044236 34 0.029
nucleoside catabolic process GO:0009164 408 0.029
decidualization GO:0046697 4 0.028
reproductive process GO:0022414 106 0.028
negative regulation of serine type endopeptidase activity GO:1900004 2 0.028
nervous system development GO:0007399 293 0.028
small gtpase mediated signal transduction GO:0007264 78 0.028
regulation of cell activation GO:0050865 125 0.027
regulation of cytokine production GO:0001817 232 0.026
cellular response to xenobiotic stimulus GO:0071466 29 0.026
positive regulation of cell death GO:0010942 263 0.026
antigen processing and presentation via mhc class ib GO:0002475 3 0.026
regulation of systemic arterial blood pressure by circulatory renin angiotensin GO:0001991 4 0.026
regulation of anatomical structure morphogenesis GO:0022603 286 0.026
blastocyst development GO:0001824 3 0.025
regulation of vasculature development GO:1901342 97 0.025
immune system development GO:0002520 195 0.025
leukocyte activation GO:0045321 164 0.025
regulation of protein localization GO:0032880 296 0.025
regulation of natural killer cell mediated cytotoxicity GO:0042269 16 0.025
positive regulation of immune response GO:0050778 159 0.025
protein localization to plasma membrane GO:0072659 93 0.025
purine nucleoside triphosphate catabolic process GO:0009146 392 0.025
regulation of cellular response to stress GO:0080135 244 0.024
detection of external biotic stimulus GO:0098581 19 0.024
positive regulation of cellular catabolic process GO:0031331 284 0.024
regulation of exocytosis GO:0017157 46 0.024
rho protein signal transduction GO:0007266 26 0.024
regulation of response to wounding GO:1903034 101 0.024
negative regulation of apoptotic process GO:0043066 316 0.024
regulation of glycoprotein metabolic process GO:1903018 19 0.024
membrane protein proteolysis GO:0033619 38 0.023
regulation of cell killing GO:0031341 22 0.023
regulation of t cell activation via t cell receptor contact with antigen bound to mhc molecule on antigen presenting cell GO:2001188 2 0.022
endomembrane system organization GO:0010256 196 0.022
maintenance of location GO:0051235 112 0.022
cellular response to hydrogen peroxide GO:0070301 37 0.022
positive regulation of defense response GO:0031349 87 0.022
response to oxygen containing compound GO:1901700 369 0.022
positive regulation of immune system process GO:0002684 283 0.022
midbrain development GO:0030901 45 0.022
transition metal ion transport GO:0000041 23 0.022
positive regulation of cellular component organization GO:0051130 376 0.021
i kappab kinase nf kappab signaling GO:0007249 166 0.021
secretion GO:0046903 254 0.021
positive regulation of gtp catabolic process GO:0033126 166 0.021
negative regulation of developmental process GO:0051093 247 0.021
purine ribonucleoside metabolic process GO:0046128 437 0.021
nucleoside phosphate catabolic process GO:1901292 412 0.021
adult locomotory behavior GO:0008344 1 0.021
negative regulation of locomotion GO:0040013 118 0.021
regulation of blood coagulation GO:0030193 42 0.021
embryo development GO:0009790 123 0.021
positive regulation of cellular component movement GO:0051272 181 0.021
positive regulation of integrin mediated signaling pathway GO:2001046 2 0.020
negative regulation of blood pressure GO:0045776 3 0.020
positive regulation of transmembrane transport GO:0034764 41 0.020
wound healing GO:0042060 115 0.020
regulation of nucleotide metabolic process GO:0006140 269 0.020
cell type specific apoptotic process GO:0097285 125 0.020
negative regulation of cellular component movement GO:0051271 106 0.020
osteoclast development GO:0036035 2 0.020
protein oligomerization GO:0051259 173 0.020
neutrophil homeostasis GO:0001780 3 0.019
cellular response to organic cyclic compound GO:0071407 127 0.019
cellular protein catabolic process GO:0044257 261 0.019
cellular response to steroid hormone stimulus GO:0071383 37 0.019
positive regulation of cysteine type endopeptidase activity GO:2001056 79 0.019
cellular response to oxidative stress GO:0034599 85 0.019
positive regulation of developmental process GO:0051094 314 0.019
negative regulation of wnt signaling pathway GO:0030178 69 0.018
biological adhesion GO:0022610 331 0.018
vacuole organization GO:0007033 44 0.018
protein heterooligomerization GO:0051291 16 0.018
cardiovascular system development GO:0072358 262 0.018
negative regulation of cellular component organization GO:0051129 235 0.018
regulation of endocytosis GO:0030100 72 0.018
negative regulation of catabolic process GO:0009895 104 0.018
cellular response to reactive oxygen species GO:0034614 50 0.018
gtp catabolic process GO:0006184 237 0.018
positive regulation of cell migration GO:0030335 172 0.017
regulation of serine type endopeptidase activity GO:1900003 2 0.017
growth GO:0040007 202 0.017
cellular protein complex assembly GO:0043623 188 0.017
protein homooligomerization GO:0051260 100 0.017
purine ribonucleoside triphosphate catabolic process GO:0009207 391 0.017
integrin mediated signaling pathway GO:0007229 32 0.017
adaptive immune response GO:0002250 49 0.017
regulation of autophagy GO:0010506 52 0.017
regulation of epithelial cell migration GO:0010632 93 0.017
enzyme linked receptor protein signaling pathway GO:0007167 303 0.016
negative regulation of cell differentiation GO:0045596 171 0.016
purine ribonucleoside triphosphate metabolic process GO:0009205 411 0.016
glial cell migration GO:0008347 4 0.016
regulation of mapk cascade GO:0043408 262 0.016
cellular amino acid metabolic process GO:0006520 116 0.016
neuromuscular process controlling balance GO:0050885 7 0.016
endocytosis GO:0006897 159 0.015
ras protein signal transduction GO:0007265 73 0.015
membrane assembly GO:0071709 10 0.015
negative regulation of transport GO:0051051 176 0.015
regulation of lymphocyte activation GO:0051249 103 0.015
positive regulation of hydrolase activity GO:0051345 331 0.015
positive regulation of lymphocyte activation GO:0051251 73 0.015
purine containing compound catabolic process GO:0072523 411 0.015
nucleic acid phosphodiester bond hydrolysis GO:0090305 102 0.015
defense response to gram positive bacterium GO:0050830 29 0.015
purine nucleoside catabolic process GO:0006152 398 0.015
ganglioside metabolic process GO:0001573 7 0.015
granulocyte chemotaxis GO:0071621 37 0.015
lipid catabolic process GO:0016042 84 0.015
negative regulation of protein transport GO:0051224 75 0.015
positive regulation of leukocyte activation GO:0002696 80 0.014
negative regulation of interleukin 8 secretion GO:2000483 2 0.014
regulation of cell adhesion GO:0030155 166 0.014
positive regulation of proteolysis GO:0045862 142 0.014
posttranscriptional regulation of gene expression GO:0010608 213 0.014
monovalent inorganic cation transport GO:0015672 128 0.014
entry into cell of other organism involved in symbiotic interaction GO:0051806 25 0.014
regulation of proteasomal protein catabolic process GO:0061136 87 0.014
regulation of blood pressure GO:0008217 30 0.014
regulation of epithelial cell proliferation GO:0050678 113 0.014
epidermis development GO:0008544 59 0.014
immune response regulating cell surface receptor signaling pathway GO:0002768 51 0.014
positive regulation of vesicle fusion GO:0031340 4 0.014
circadian sleep wake cycle process GO:0022410 2 0.014
activation of cysteine type endopeptidase activity GO:0097202 57 0.014
negative regulation of apoptotic signaling pathway GO:2001234 97 0.014
regulation of serine type peptidase activity GO:1902571 2 0.014
regulation of innate immune response GO:0045088 97 0.014
positive regulation of nucleotide catabolic process GO:0030813 185 0.013
cytoplasmic transport GO:0016482 379 0.013
cellular response to growth factor stimulus GO:0071363 197 0.013
energy homeostasis GO:0097009 3 0.013
aging GO:0007568 66 0.013
regulation of protein stability GO:0031647 87 0.013
regulation of membrane potential GO:0042391 95 0.013
positive regulation of nucleoside metabolic process GO:0045979 186 0.013
proteasomal protein catabolic process GO:0010498 176 0.013
sleep GO:0030431 2 0.013
regulation of ras gtpase activity GO:0032318 128 0.013
cellular ion homeostasis GO:0006873 168 0.013
positive regulation of gtpase activity GO:0043547 166 0.013
protein localization to organelle GO:0033365 280 0.013
cellular ketone metabolic process GO:0042180 80 0.013
leukocyte migration involved in inflammatory response GO:0002523 2 0.013
positive regulation of i kappab kinase nf kappab signaling GO:0043123 132 0.013
cytokine secretion GO:0050663 64 0.013
purine ribonucleoside catabolic process GO:0046130 398 0.013
female pregnancy GO:0007565 17 0.013
circulatory system process GO:0003013 113 0.012
positive regulation of leukocyte degranulation GO:0043302 3 0.012
natural killer cell mediated immunity GO:0002228 23 0.012
regulation of establishment of protein localization GO:0070201 242 0.012
regulation of gtp catabolic process GO:0033124 180 0.012
cellular response to oxygen containing compound GO:1901701 276 0.012
multi organism reproductive process GO:0044703 54 0.012
positive regulation of apoptotic process GO:0043065 246 0.012
immune response regulating signaling pathway GO:0002764 97 0.012
extracellular matrix disassembly GO:0022617 16 0.012
lymphocyte mediated immunity GO:0002449 48 0.012
cellular lipid catabolic process GO:0044242 65 0.012
cell killing GO:0001906 34 0.012
regulation of t cell activation GO:0050863 77 0.012
rhythmic behavior GO:0007622 2 0.012
regulation of proteolysis involved in cellular protein catabolic process GO:1903050 91 0.012
interleukin 1 production GO:0032612 26 0.012
cellular cation homeostasis GO:0030003 163 0.012
cellular response to extracellular stimulus GO:0031668 72 0.012
positive regulation of endopeptidase activity GO:0010950 84 0.012
inflammatory response GO:0006954 79 0.012
cell morphogenesis GO:0000902 296 0.012
cellular chemical homeostasis GO:0055082 180 0.012
cell activation involved in immune response GO:0002263 30 0.011
actin filament based movement GO:0030048 17 0.011
membrane budding GO:0006900 28 0.011
cellular response to mechanical stimulus GO:0071260 39 0.011
dna replication GO:0006260 116 0.011
developmental process involved in reproduction GO:0003006 66 0.011
regulation of camp metabolic process GO:0030814 52 0.011
regulation of nucleotide catabolic process GO:0030811 205 0.011
positive regulation of purine nucleotide metabolic process GO:1900544 227 0.011
response to starvation GO:0042594 59 0.011
peptidyl glutamic acid modification GO:0018200 4 0.011
leukocyte activation involved in immune response GO:0002366 30 0.011
chemical homeostasis within a tissue GO:0048875 3 0.011
cellular response to glucocorticoid stimulus GO:0071385 4 0.011
positive regulation of lymphocyte differentiation GO:0045621 13 0.011
n acetylglucosamine metabolic process GO:0006044 7 0.011
transmembrane transport GO:0055085 399 0.011
lysosome organization GO:0007040 24 0.011
positive regulation of cell proliferation GO:0008284 301 0.011
basement membrane disassembly GO:0034769 2 0.010
antigen processing and presentation of exogenous antigen GO:0019884 4 0.010
negative regulation of intracellular signal transduction GO:1902532 183 0.010
multicellular organismal catabolic process GO:0044243 12 0.010
circadian behavior GO:0048512 2 0.010
protein heterotetramerization GO:0051290 3 0.010
embryo implantation GO:0007566 7 0.010
positive regulation of cell differentiation GO:0045597 211 0.010
wnt signaling pathway GO:0016055 156 0.010
nucleoside triphosphate metabolic process GO:0009141 422 0.010
response to organic cyclic compound GO:0014070 204 0.010
regulation of stress activated mapk cascade GO:0032872 84 0.010
positive regulation of necrotic cell death GO:0010940 4 0.010
purine nucleoside triphosphate metabolic process GO:0009144 412 0.010
response to fungus GO:0009620 4 0.010
sulfur compound metabolic process GO:0006790 101 0.010

NPC2 disease predictions

Disease DO term ID Size Probability Func Analog Org
disease of metabolism DOID:0014667 295 0.979
lysosomal storage disease DOID:3211 47 0.979
inherited metabolic disorder DOID:655 242 0.979
cerebral degeneration DOID:1443 16 0.434
central nervous system disease DOID:331 186 0.434
brain disease DOID:936 73 0.434
nervous system disease DOID:863 431 0.434
lipid storage disease DOID:9455 28 0.430
epilepsy syndrome DOID:1826 41 0.181
variable age at onset electroclinical syndrome DOID:0050706 8 0.181
electroclinical syndrome DOID:0050701 32 0.181
acquired metabolic disease DOID:0060158 58 0.142
sensory system disease DOID:0050155 203 0.080
eye and adnexa disease DOID:1492 150 0.080
eye disease DOID:5614 149 0.080
retinal disease DOID:5679 118 0.051
progressive myoclonus epilepsy DOID:891 8 0.036
neuronal ceroid lipofuscinosis DOID:14503 11 0.028
retinal degeneration DOID:8466 89 0.026
degeneration of macula and posterior pole DOID:2007 17 0.026
macular degeneration DOID:4448 20 0.026
age related macular degeneration DOID:10871 17 0.026
leukodystrophy DOID:10579 8 0.018
sphingolipidosis DOID:1927 14 0.009
immune system disease DOID:2914 155 0.002
lymphatic system disease DOID:75 12 0.001
histiocytosis DOID:3405 4 0.001
non langerhans cell histiocytosis DOID:4330 4 0.001
niemann pick disease DOID:14504 3 0.000