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MCOLN2 (mucolipin 2)

Identity

Other aliasTRP-ML2
TRPML2
HGNC (Hugo) MCOLN2
LocusID (NCBI) 255231
Atlas_Id 57328
Location 1p22.3  [Link to chromosome band 1p22]
Location_base_pair Starts at 84925583 and ends at 84997122 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
IL18R1 (2q12.1) / MCOLN2 (1p22.3)MCOLN2 (1p22.3) / CDK1 (10q21.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(1;2)(p22;q12) IL18R1/MCOLN2
t(1;10)(p22;q21) MCOLN2/CDK1


External links

Nomenclature
HGNC (Hugo)MCOLN2   13357
Cards
Entrez_Gene (NCBI)MCOLN2  255231  mucolipin 2
AliasesTRP-ML2; TRPML2
GeneCards (Weizmann)MCOLN2
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr1:84925583-84997122 [Contig_View]  MCOLN2 [Vega]
TCGA cBioPortalMCOLN2
AceView (NCBI)MCOLN2
Genatlas (Paris)MCOLN2
WikiGenes255231
SOURCE (Princeton)MCOLN2
Genetics Home Reference (NIH)MCOLN2
Genomic and cartography
GoldenPath hg38 (UCSC)MCOLN2  -     chr1:84925583-84997122 -  1p22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MCOLN2  -     1p22.3   [Description]    (hg19-Feb_2009)
EnsemblMCOLN2 - 1p22.3 [CytoView hg19]  MCOLN2 - 1p22.3 [CytoView hg38]
Mapping of homologs : NCBIMCOLN2 [Mapview hg19]  MCOLN2 [Mapview hg38]
OMIM607399   
Gene and transcription
Genbank (Entrez)AA664369 AK094010 AK129786 AK309858 AV713773
RefSeq transcript (Entrez)NM_001330647 NM_153259
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MCOLN2
Cluster EST : UnigeneHs.591446 [ NCBI ]
CGAP (NCI)Hs.591446
Gene ExpressionMCOLN2 [ NCBI-GEO ]   MCOLN2 [ EBI - ARRAY_EXPRESS ]   MCOLN2 [ SEEK ]   MCOLN2 [ MEM ]
Gene Expression Viewer (FireBrowse)MCOLN2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)255231
GTEX Portal (Tissue expression)MCOLN2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IZK6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IZK6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IZK6
Splice isoforms : SwissVarQ8IZK6
PhosPhoSitePlusQ8IZK6
Domains : Interpro (EBI)PKD1_2_channel   
Domain families : Pfam (Sanger)PKD_channel (PF08016)   
Domain families : Pfam (NCBI)pfam08016   
Conserved Domain (NCBI)MCOLN2
DMDM Disease mutations255231
Blocks (Seattle)MCOLN2
SuperfamilyQ8IZK6
Peptide AtlasQ8IZK6
IPIIPI00374008   IPI00900259   IPI00981005   
Protein Interaction databases
DIP (DOE-UCLA)Q8IZK6
IntAct (EBI)Q8IZK6
BioGRIDMCOLN2
STRING (EMBL)MCOLN2
ZODIACMCOLN2
Ontologies - Pathways
QuickGOQ8IZK6
Ontology : AmiGO###############################################################################################################################################################################################################################################################                                  
Ontology : EGO-EBI###############################################################################################################################################################################################################################################################                                  
NDEx NetworkMCOLN2
Atlas of Cancer Signalling NetworkMCOLN2
Wikipedia pathwaysMCOLN2
Orthology - Evolution
OrthoDB255231
Phylogenetic Trees/Animal Genes : TreeFamMCOLN2
HOVERGENQ8IZK6
HOGENOMQ8IZK6
Homologs : HomoloGeneMCOLN2
Homology/Alignments : Family Browser (UCSC)MCOLN2
Gene fusions - Rearrangements
Fusion : QuiverMCOLN2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMCOLN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MCOLN2
dbVarMCOLN2
ClinVarMCOLN2
1000_GenomesMCOLN2 
Exome Variant ServerMCOLN2
Genetic variants : HAPMAP255231
Genomic Variants (DGV)MCOLN2 [DGVbeta]
DECIPHERMCOLN2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMCOLN2 
Mutations
ICGC Data PortalMCOLN2 
TCGA Data PortalMCOLN2 
Broad Tumor PortalMCOLN2
OASIS PortalMCOLN2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMCOLN2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMCOLN2
BioMutasearch MCOLN2
DgiDB (Drug Gene Interaction Database)MCOLN2
DoCM (Curated mutations)MCOLN2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MCOLN2 (select a term)
intoGenMCOLN2
Cancer3DMCOLN2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607399   
Orphanet
DisGeNETMCOLN2
MedgenMCOLN2
Genetic Testing Registry MCOLN2
NextProtQ8IZK6 [Medical]
TSGene255231
GENETestsMCOLN2
Target ValidationMCOLN2
Huge Navigator MCOLN2 [HugePedia]
snp3D : Map Gene to Disease255231
BioCentury BCIQMCOLN2
ClinGenMCOLN2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD255231
Chemical/Pharm GKB GenePA134913691
Clinical trialMCOLN2
Miscellaneous
canSAR (ICR)MCOLN2 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMCOLN2
EVEXMCOLN2
GoPubMedMCOLN2
iHOPMCOLN2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Feb 23 19:16:12 CET 2018

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