Name | Number of supported studies  | Average coverage | |
|---|---|---|---|
| epithelial cell | 6 studies | 31% ± 11% | |
| placental villous trophoblast | 3 studies | 64% ± 19% | |
| macrophage | 3 studies | 20% ± 2% | |
| dendritic cell | 3 studies | 25% ± 3% | |
| goblet cell | 3 studies | 23% ± 3% |
Insufficient scRNA-seq data for expression of CLN3 at tissue level.
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
|---|---|---|---|---|---|---|
| breast | 100% | 3169.57 | 459 / 459 | 14% | 0.30 | 158 / 1118 |
| intestine | 100% | 3604.73 | 966 / 966 | 11% | 0.18 | 59 / 527 |
| stomach | 100% | 2431.71 | 359 / 359 | 11% | 0.16 | 31 / 286 |
| bladder | 100% | 2483.24 | 21 / 21 | 9% | 0.16 | 45 / 504 |
| thymus | 100% | 3737.77 | 653 / 653 | 3% | 0.04 | 18 / 605 |
| lung | 100% | 3398.34 | 578 / 578 | 3% | 0.05 | 30 / 1155 |
| esophagus | 100% | 1914.97 | 1444 / 1445 | 2% | 0.03 | 4 / 183 |
| kidney | 100% | 2506.11 | 89 / 89 | 1% | 0.03 | 13 / 901 |
| uterus | 100% | 2394.78 | 170 / 170 | 1% | 0.02 | 3 / 459 |
| pancreas | 100% | 1499.66 | 328 / 328 | 1% | 0.04 | 1 / 178 |
| ovary | 100% | 2636.38 | 180 / 180 | 0% | 0.01 | 2 / 430 |
| skin | 100% | 2600.71 | 1809 / 1809 | 0% | 0.00 | 2 / 472 |
| prostate | 100% | 2590.93 | 245 / 245 | 0% | 0.00 | 1 / 502 |
| adipose | 100% | 2323.08 | 1204 / 1204 | 0% | 0 | 0 / 0 |
| adrenal gland | 100% | 3340.38 | 258 / 258 | 0% | 0 | 0 / 230 |
| liver | 100% | 1833.29 | 226 / 226 | 0% | 0 | 0 / 406 |
| spleen | 100% | 3436.95 | 241 / 241 | 0% | 0 | 0 / 0 |
| blood vessel | 100% | 1782.66 | 1330 / 1335 | 0% | 0 | 0 / 0 |
| peripheral blood | 100% | 3407.52 | 925 / 929 | 0% | 0 | 0 / 0 |
| brain | 98% | 1034.32 | 2578 / 2642 | 0% | 0.01 | 3 / 705 |
| muscle | 97% | 932.03 | 776 / 803 | 0% | 0 | 0 / 0 |
| heart | 96% | 1002.44 | 823 / 861 | 0% | 0 | 0 / 0 |
| abdomen | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| bone marrow | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| diaphragm | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| eye | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 80 |
| gingiva | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| lymph node | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 29 |
| nasal cavity | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| nasopharynx | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| nose | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| placenta | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| spinal column | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| tonsil | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 45 |
| ureter | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 1 |
| GO_0007040 | Biological process | lysosome organization |
| GO_0051480 | Biological process | regulation of cytosolic calcium ion concentration |
| GO_0070613 | Biological process | regulation of protein processing |
| GO_0072659 | Biological process | protein localization to plasma membrane |
| GO_0061909 | Biological process | autophagosome-lysosome fusion |
| GO_0046836 | Biological process | glycolipid transport |
| GO_0035235 | Biological process | ionotropic glutamate receptor signaling pathway |
| GO_1901096 | Biological process | regulation of autophagosome maturation |
| GO_0050885 | Biological process | neuromuscular process controlling balance |
| GO_0030036 | Biological process | actin cytoskeleton organization |
| GO_0043066 | Biological process | negative regulation of apoptotic process |
| GO_0045861 | Biological process | negative regulation of proteolysis |
| GO_0090385 | Biological process | phagosome-lysosome fusion |
| GO_1905162 | Biological process | regulation of phagosome maturation |
| GO_0009992 | Biological process | intracellular water homeostasis |
| GO_0032228 | Biological process | regulation of synaptic transmission, GABAergic |
| GO_1900079 | Biological process | regulation of arginine biosynthetic process |
| GO_0016243 | Biological process | regulation of autophagosome size |
| GO_0048549 | Biological process | positive regulation of pinocytosis |
| GO_0046474 | Biological process | glycerophospholipid biosynthetic process |
| GO_0007042 | Biological process | lysosomal lumen acidification |
| GO_0042998 | Biological process | positive regulation of Golgi to plasma membrane protein transport |
| GO_0090384 | Biological process | phagosome-lysosome docking |
| GO_1905244 | Biological process | regulation of modification of synaptic structure |
| GO_0051966 | Biological process | regulation of synaptic transmission, glutamatergic |
| GO_0106049 | Biological process | regulation of cellular response to osmotic stress |
| GO_1905146 | Biological process | lysosomal protein catabolic process |
| GO_1903076 | Biological process | regulation of protein localization to plasma membrane |
| GO_0047496 | Biological process | vesicle transport along microtubule |
| GO_0051489 | Biological process | regulation of filopodium assembly |
| GO_0051493 | Biological process | regulation of cytoskeleton organization |
| GO_0016485 | Biological process | protein processing |
| GO_0035627 | Biological process | ceramide transport |
| GO_0036359 | Biological process | renal potassium excretion |
| GO_0001934 | Biological process | positive regulation of protein phosphorylation |
| GO_0044857 | Biological process | plasma membrane raft organization |
| GO_0043534 | Biological process | blood vessel endothelial cell migration |
| GO_0090160 | Biological process | Golgi to lysosome transport |
| GO_0010762 | Biological process | regulation of fibroblast migration |
| GO_0097352 | Biological process | autophagosome maturation |
| GO_0043524 | Biological process | negative regulation of neuron apoptotic process |
| GO_0042987 | Biological process | amyloid precursor protein catabolic process |
| GO_0035752 | Biological process | lysosomal lumen pH elevation |
| GO_0006898 | Biological process | receptor-mediated endocytosis |
| GO_0007611 | Biological process | learning or memory |
| GO_1903826 | Biological process | L-arginine transmembrane transport |
| GO_0008306 | Biological process | associative learning |
| GO_0061024 | Biological process | membrane organization |
| GO_2001288 | Biological process | positive regulation of caveolin-mediated endocytosis |
| GO_0001508 | Biological process | action potential |
| GO_0048172 | Biological process | regulation of short-term neuronal synaptic plasticity |
| GO_0005795 | Cellular component | Golgi stack |
| GO_0045121 | Cellular component | membrane raft |
| GO_0005789 | Cellular component | endoplasmic reticulum membrane |
| GO_0043005 | Cellular component | neuron projection |
| GO_0005802 | Cellular component | trans-Golgi network |
| GO_0008021 | Cellular component | synaptic vesicle |
| GO_0005634 | Cellular component | nucleus |
| GO_0044754 | Cellular component | autolysosome |
| GO_0031901 | Cellular component | early endosome membrane |
| GO_0005770 | Cellular component | late endosome |
| GO_0005886 | Cellular component | plasma membrane |
| GO_0016020 | Cellular component | membrane |
| GO_0055037 | Cellular component | recycling endosome |
| GO_0005769 | Cellular component | early endosome |
| GO_0005764 | Cellular component | lysosome |
| GO_0005794 | Cellular component | Golgi apparatus |
| GO_0000139 | Cellular component | Golgi membrane |
| GO_0005783 | Cellular component | endoplasmic reticulum |
| GO_0005776 | Cellular component | autophagosome |
| GO_0005737 | Cellular component | cytoplasm |
| GO_0005901 | Cellular component | caveola |
| GO_0031902 | Cellular component | late endosome membrane |
| GO_0005829 | Cellular component | cytosol |
| GO_0005765 | Cellular component | lysosomal membrane |
| GO_0017089 | Molecular function | glycolipid transfer activity |
| GO_0051861 | Molecular function | glycolipid binding |
| GO_0048306 | Molecular function | calcium-dependent protein binding |
| GO_0005515 | Molecular function | protein binding |
| GO_0120146 | Molecular function | sulfatide binding |
| Gene name | CLN3 |
| Protein name | CLN3 lysosomal/endosomal transmembrane protein, battenin Battenin (Batten disease protein) (Protein CLN3) CLN3 lysosomal/endosomal transmembrane protein, battenin (CLN3 protein) CLN3 protein Mutant CLN3 Battenin |
| Synonyms | BTS hCG_1745226 |
| Description | FUNCTION: Mediates microtubule-dependent, anterograde transport connecting the Golgi network, endosomes, autophagosomes, lysosomes and plasma membrane, and participates in several cellular processes such as regulation of lysosomal pH, lysosome protein degradation, receptor-mediated endocytosis, autophagy, transport of proteins and lipids from the TGN, apoptosis and synaptic transmission . Facilitates the proteins transport from trans-Golgi network (TGN)-to other membrane compartments such as transport of microdomain-associated proteins to the plasma membrane, IGF2R transport to the lysosome where it regulates the CTSD release leading to regulation of CTSD maturation and thereby APP intracellular processing . Moreover regulates CTSD activity in response to osmotic stress . Also binds galactosylceramide and transports it from the trans Golgi to the rafts, which may have immediate and downstream effects on cell survival by modulating ceramide synthesis . At the plasma membrane, regulates actin-dependent events including filopodia formation, cell migration, and pinocytosis through ARF1-CDC42 pathway and also the cytoskeleton organization through interaction with MYH10 and fodrin leading to the regulation of the plasma membrane association of Na+, K+ ATPase complex . Regulates synaptic transmission in the amygdala, hippocampus, and cerebellum through regulation of synaptic vesicles density and their proximity to active zones leading to modulation of short-term plasticity and age-dependent anxious behavior, learning and memory (By similarity). Regulates autophagic vacuoles (AVs) maturation by modulating the trafficking between endocytic and autophagolysosomal/lysosomal compartments, which involves vesicle fusion leading to regulation of degradation process (By similarity). Participates also in cellular homeostasis of compounds such as, water, ions, amino acids, proteins and lipids in several tissue namely in brain and kidney through regulation of their transport and synthesis . . |
| Accessions | ENST00000637100.1 ENST00000565316.6 [Q13286-3] ENST00000357857.14 Q9UBD8 Q5XFT9 ENST00000359984.12 [Q13286-1] O95088 ENST00000637578.1 O95085 ENST00000637871.1 B4DFF3 B4DMY6 ENST00000395653.9 O95091 H3BRU8 ENST00000565688.5 ENST00000567495.6 ENST00000635861.1 ENST00000636503.1 Q9UP05 F6TI76 A0A1B0GV71 ENST00000355477.10 [Q13286-2] Q13286 ENST00000637699.1 H3BR00 A0A1B0GV41 H3BPL0 ENST00000565778.6 O95093 A0A0D9SF04 ENST00000357806.11 [Q13286-6] ENST00000637184.1 A0A1B0GUU4 ENST00000567804.1 ENST00000569430.7 [Q13286-1] ENST00000637107.1 H3BMN4 ENST00000637376.1 ENST00000333496.14 [Q13286-7] ENST00000635973.1 ENST00000564091.6 ENST00000568224.4 ENST00000567963.6 A8JYI8 H3BQ48 ENST00000568558.6 ENST00000561505.2 ENST00000636017.1 H3BUF8 A0A1B0GWH8 Q9UBH5 ENST00000637985.1 ENST00000566057.5 O95086 ENST00000568422.6 A0A1B0GUB1 O95092 ENST00000628023.3 ENST00000568497.6 ENST00000569030.5 [Q13286-5] A0A1B0GW34 ENST00000568443.2 ENST00000360019.8 [Q13286-7] ENST00000565140.5 Q9UP08 H3BR84 O95087 H3BNK7 Q9UP10 Q2TA70 A8JYI9 ENST00000636172.1 ENST00000636228.1 O95090 ENST00000636147.2 [Q13286-1] |
