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MCOLN3 (mucolipin 3)

Identity

Alias_symbol (synonym)TRPML3
FLJ11006
TRP-ML3
Other alias
HGNC (Hugo) MCOLN3
LocusID (NCBI) 55283
Atlas_Id 56004
Location 1p22.3  [Link to chromosome band 1p22]
Location_base_pair Starts at 85018082 and ends at 85048540 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)

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

 


External links

Nomenclature
HGNC (Hugo)MCOLN3   13358
Cards
Entrez_Gene (NCBI)MCOLN3  55283  mucolipin 3
AliasesTRP-ML3; TRPML3
GeneCards (Weizmann)MCOLN3
Ensembl hg19 (Hinxton)ENSG00000055732 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000055732 [Gene_View]  chr1:85018082-85048540 [Contig_View]  MCOLN3 [Vega]
ICGC DataPortalENSG00000055732
TCGA cBioPortalMCOLN3
AceView (NCBI)MCOLN3
Genatlas (Paris)MCOLN3
WikiGenes55283
SOURCE (Princeton)MCOLN3
Genetics Home Reference (NIH)MCOLN3
Genomic and cartography
GoldenPath hg38 (UCSC)MCOLN3  -     chr1:85018082-85048540 -  1p22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MCOLN3  -     1p22.3   [Description]    (hg19-Feb_2009)
EnsemblMCOLN3 - 1p22.3 [CytoView hg19]  MCOLN3 - 1p22.3 [CytoView hg38]
Mapping of homologs : NCBIMCOLN3 [Mapview hg19]  MCOLN3 [Mapview hg38]
OMIM607400   
Gene and transcription
Genbank (Entrez)AF475085 AK001868 AK093948 AK095148 AK292206
RefSeq transcript (Entrez)NM_001253693 NM_018298
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MCOLN3
Cluster EST : UnigeneHs.535239 [ NCBI ]
CGAP (NCI)Hs.535239
Alternative Splicing GalleryENSG00000055732
Gene ExpressionMCOLN3 [ NCBI-GEO ]   MCOLN3 [ EBI - ARRAY_EXPRESS ]   MCOLN3 [ SEEK ]   MCOLN3 [ MEM ]
Gene Expression Viewer (FireBrowse)MCOLN3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55283
GTEX Portal (Tissue expression)MCOLN3
Human Protein AtlasENSG00000055732-MCOLN3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TDD5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TDD5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TDD5
Splice isoforms : SwissVarQ8TDD5
PhosPhoSitePlusQ8TDD5
Domains : Interpro (EBI)PKD1_2_channel   
Domain families : Pfam (Sanger)PKD_channel (PF08016)   
Domain families : Pfam (NCBI)pfam08016   
Conserved Domain (NCBI)MCOLN3
DMDM Disease mutations55283
Blocks (Seattle)MCOLN3
SuperfamilyQ8TDD5
Human Protein Atlas [tissue]ENSG00000055732-MCOLN3 [tissue]
Peptide AtlasQ8TDD5
HPRD09585
IPIIPI00442997   IPI00442999   IPI00645830   
Protein Interaction databases
DIP (DOE-UCLA)Q8TDD5
IntAct (EBI)Q8TDD5
FunCoupENSG00000055732
BioGRIDMCOLN3
STRING (EMBL)MCOLN3
ZODIACMCOLN3
Ontologies - Pathways
QuickGOQ8TDD5
Ontology : AmiGOcalcium channel activity  cytoplasm  plasma membrane  locomotory behavior  integral component of membrane  auditory receptor cell differentiation  calcium ion transmembrane transport  
Ontology : EGO-EBIcalcium channel activity  cytoplasm  plasma membrane  locomotory behavior  integral component of membrane  auditory receptor cell differentiation  calcium ion transmembrane transport  
NDEx NetworkMCOLN3
Atlas of Cancer Signalling NetworkMCOLN3
Wikipedia pathwaysMCOLN3
Orthology - Evolution
OrthoDB55283
GeneTree (enSembl)ENSG00000055732
Phylogenetic Trees/Animal Genes : TreeFamMCOLN3
HOVERGENQ8TDD5
HOGENOMQ8TDD5
Homologs : HomoloGeneMCOLN3
Homology/Alignments : Family Browser (UCSC)MCOLN3
Gene fusions - Rearrangements
Tumor Fusion PortalMCOLN3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMCOLN3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MCOLN3
dbVarMCOLN3
ClinVarMCOLN3
1000_GenomesMCOLN3 
Exome Variant ServerMCOLN3
ExAC (Exome Aggregation Consortium)ENSG00000055732
GNOMAD BrowserENSG00000055732
Genetic variants : HAPMAP55283
Genomic Variants (DGV)MCOLN3 [DGVbeta]
DECIPHERMCOLN3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMCOLN3 
Mutations
ICGC Data PortalMCOLN3 
TCGA Data PortalMCOLN3 
Broad Tumor PortalMCOLN3
OASIS PortalMCOLN3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMCOLN3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMCOLN3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MCOLN3
DgiDB (Drug Gene Interaction Database)MCOLN3
DoCM (Curated mutations)MCOLN3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MCOLN3 (select a term)
intoGenMCOLN3
Cancer3DMCOLN3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607400   
Orphanet
DisGeNETMCOLN3
MedgenMCOLN3
Genetic Testing Registry MCOLN3
NextProtQ8TDD5 [Medical]
TSGene55283
GENETestsMCOLN3
Target ValidationMCOLN3
Huge Navigator MCOLN3 [HugePedia]
snp3D : Map Gene to Disease55283
BioCentury BCIQMCOLN3
ClinGenMCOLN3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55283
Chemical/Pharm GKB GenePA134947324
Clinical trialMCOLN3
Miscellaneous
canSAR (ICR)MCOLN3 (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMCOLN3
EVEXMCOLN3
GoPubMedMCOLN3
iHOPMCOLN3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:21:58 CET 2017

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