Property Summary

NCBI Gene PubMed Count 13
PubMed Score 10.34
PubTator Score 9.98

Knowledge Summary

Patent (809)

TINX Plot

  Disease Sources (2)

Disease Target Count P-value
lung carcinoma 2844 1.26647372490225E-16
chronic lymphosyte leukemia 232 1.2128782721556E-9
ovarian cancer 8492 7.16125410884382E-8
tuberculosis 1563 6.3672192058523E-6
primary Sjogren syndrome 789 2.21537550559248E-4
medulloblastoma, large-cell 6234 0.00108338206461137
ulcerative colitis 2087 0.00151251914587058
invasive ductal carcinoma 2950 0.00203867427555736
adrenocortical carcinoma 1427 0.00328614165959544
interstitial cystitis 2299 0.00981261105187786
active Crohn's disease 918 0.0203756701458109
osteosarcoma 7933 0.0396088038695272
Disease Target Count Z-score Confidence
Gangliosidosis 17 5.865 2.9

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

Synonym

Accession Q8IZK6 A6NI99 Q2M3I6 Q5TAG5 Q8N9R3
Symbols TRPML2
TRP-ML2

Gene

PANTHER Protein Class (2)

  Ortholog (9)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Platypus EggNOG Inparanoid
Chicken OMA EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid

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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