Property Summary

NCBI Gene PubMed Count 13
Grant Count 18
R01 Count 9
Funding $2,660,610.44
PubMed Score 10.34
PubTator Score 9.98

Knowledge Summary

Patent (809)

Expression

  Differential Expression (12)

Disease log2 FC p
osteosarcoma -1.394 0.040
chronic lymphosyte leukemia 1.900 0.000
medulloblastoma, large-cell 1.200 0.001
adrenocortical carcinoma -1.544 0.003
tuberculosis -1.100 0.000
active Crohn's disease -1.146 0.020
interstitial cystitis 2.000 0.010
primary Sjogren syndrome 2.100 0.000
invasive ductal carcinoma 1.646 0.002
lung carcinoma -1.800 0.000
ulcerative colitis -2.000 0.002
ovarian cancer -2.100 0.000

MLP Assay (1)

AID Type Active / Inconclusive / Inactive Description
2116 screening 6 / 0 / 0 Late stage results from the probe development efforts to identify agonists of the Transient Receptor Potential Channels 3 and 2 (TRPML3 and TRPML2).

Gene RIF (9)

PMID Text
25445271 MCOLN2 is transcriptionally activated by PAX5 and has roles in B cell development and function
22753890 TRPML2 is activated by lowering the extracellular sodium concentration as well as by a subset of small chemical compounds that were previously identified as activators of TRPML3.
20736310 TRPML 1, 2 and 3 assemblies regulated cell viability and starvation-induced autophagy.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19940139 constitutively active h-TRPML2 leads to cell death by causing Ca(2+) overload
19885840 Data show that TRPMLs form distinct functional channel complexes.
19763610 TRPML1 appears to play a novel role in the tissue-specific transcriptional regulation of TRPML2.
17662026 MCOLN2 traffics through the ADP-ribosylation factor 6 (Arf6)-associated pathway, colocalizing with major histocompatibility protein class I and CD59 in long recycling endosomes.
16606612 there is a hierarchy controlling the subcellular distributions of the TRPMLs such that TRPML1 and TRPML2 dictate the localization of TRPML3 and not vice versa

AA Sequence

MARQPYRFPQARIPERGSGVFRLTVRNAMAHRDSEMKEECLREDLKFYFMSPCEKYRARRQIPWKLGLQI      1 - 70
LKIVMVTTQLVRFGLSNQLVVAFKEDNTVAFKHLFLKGYSGTDEDDYSCSVYTQEDAYESIFFAINQYHQ     71 - 140
LKDITLGTLGYGENEDNRIGLKVCKQHYKKGTMFPSNETLNIDNDVELDCVQLDLQDLSKKPPDWKNSSF    141 - 210
FRLEFYRLLQVEISFHLKGIDLQTIHSRELPDCYVFQNTIIFDNKAHSGKIKIYFDSDAKIEECKDLNIF    211 - 280
GSTQKNAQYVLVFDAFVIVICLASLILCTRSIVLALRLRKRFLNFFLEKYKRPVCDTDQWEFINGWYVLV    281 - 350
IISDLMTIIGSILKMEIKAKNLTNYDLCSIFLGTSTLLVWVGVIRYLGYFQAYNVLILTMQASLPKVLRF    351 - 420
CACAGMIYLGYTFCGWIVLGPYHDKFENLNTVAECLFSLVNGDDMFATFAQIQQKSILVWLFSRLYLYSF    421 - 490
ISLFIYMILSLFIALITDSYDTIKKFQQNGFPETDLQEFLKECSSKEEYQKESSAFLSCICCRRRKRSDD    491 - 560
HLIPIS                                                                    561 - 566
//

Text Mined References (15)

PMID Year Title
25445271 2015 PAX5 is the transcriptional activator of mucolipin-2 (MCOLN2) gene.
22753890 2012 Constitutive activity of TRPML2 and TRPML3 channels versus activation by low extracellular sodium and small molecules.
20736310 2010 Heteromultimeric TRPML channel assemblies play a crucial role in the regulation of cell viability models and starvation-induced autophagy.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19940139 2010 Constitutive activity of the human TRPML2 channel induces cell degeneration.
19885840 2010 Functional multimerization of mucolipin channel proteins.
19763610 2009 The tissue-specific expression of TRPML2 (MCOLN-2) gene is influenced by the presence of TRPML1.
17662026 2007 Mucolipin-2 localizes to the Arf6-associated pathway and regulates recycling of GPI-APs.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16606612 2006 Lysosomal localization of TRPML3 depends on TRPML2 and the mucolipidosis-associated protein TRPML1.
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