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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MCOLN3 Gene

protein-coding   GIFtS: 49
GCID: GC01M085483

Mucolipin 3

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Mucolipin 31 2
TRP-ML32
TRPML32
mucolipin-32

External Ids:    HGNC: 133581   Entrez Gene: 552832   Ensembl: ENSG000000557327   OMIM: 6074005   UniProtKB: Q8TDD53   

Export aliases for MCOLN3 gene to outside databases

Previous GC identifers: GC01M085879 GC01M084622 GC01M084772 GC01M084907 GC01M084906 GC01M085195 GC01M083593


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MCOLN3 Gene:
This gene encodes one of members of the mucolipin cation channel proteins. Mutation studies of the highly similar
protein in mice have shown that the protein is found in cochlea hair cells, and mutant mice show early-onset
hearing loss and balance problems. Multiple transcript variants encoding different isoforms have been found for
this gene. (provided by RefSeq, Nov 2011)

GeneCards Summary for MCOLN3 Gene: 
MCOLN3 (mucolipin 3) is a protein-coding gene. Diseases associated with MCOLN3 include balance problems, and mucolipidosis. An important paralog of this gene is MCOLN2.

Gene Wiki entry for MCOLN3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MCOLN3 gene promoter:
         RFX1   Sox5   Bach2   Pax-2   POU6F1 (c2)   Pax-2a   LCR-F1   AP-2gamma   Pax-2b   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for MCOLN3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MCOLN3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p22.3   Ensembl cytogenetic band:  1p22.3   HGNC cytogenetic band: 1p22.3

MCOLN3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MCOLN3 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M085483:  view genomic region     (about GC identifiers)

Start:
85,483,765 bp from pter      End:
85,514,182 bp from pter
Size:
30,418 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MCLN3_HUMAN, Q8TDD5 (See protein sequence)
Recommended Name: Mucolipin-3  
Size: 553 amino acids; 64248 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: Q5T4H5 Q5T4H6 Q9NV09
Alternative splicing: 2 isoforms:  Q8TDD5-1   Q8TDD5-2   

Explore the universe of human proteins at neXtProt for MCOLN3: NX_Q8TDD5

Explore proteomics data for MCOLN3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8TDD5

  • MCOLN3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MCOLN3 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001240622.1  NP_060768.8  

    ENSEMBL proteins: 
     ENSP00000359621   ENSP00000342698   ENSP00000359619   ENSP00000474024  

    Human Recombinant Protein Products for MCOLN3: 
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    OriGene Protein Over-expression Lysate for MCOLN3
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for MCOLN3
    GenScript Custom Purified and Recombinant Proteins Services for MCOLN3
    Novus Biologicals MCOLN3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MCOLN3 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane IEA--
    GO:0016021integral to membrane IEA--

    MCOLN3 for ontologies           About GeneDecksing



    MCOLN3 Antibody Products: 
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    Assay Products for MCOLN3: 
    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MCOLN3 
    Cloud-Clone Corp. CLIAs for MCOLN3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    TRP: Voltage-gated ion channels / Transient receptor potential cation channels

    IUPHAR Guide to PHARMACOLOGY protein family classification: TRPML3 
    Transient Receptor Potential channels

    1 InterPro protein domain:
     IPR013122 PKD1_2_channel

    Graphical View of Domain Structure for InterPro Entry Q8TDD5

    ProtoNet protein and cluster: Q8TDD5

    UniProtKB/Swiss-Prot: MCLN3_HUMAN, Q8TDD5
    Similarity: Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN3 sub-subfamily


    MCOLN3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Phenotypes:
         10 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Mcoln3):
     behavior/neurological  growth/size  hearing/vestibular/ear  integument  limbs/digits/tail 
     mortality/aging  nervous system  no phenotypic analysis  pigmentation  reproductive system 

    MCOLN3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for MCOLN3: Mcoln3tm1.1Jga Mcoln3tm1.2Hels

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MCOLN3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MCOLN3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MCOLN3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MCOLN3 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MCOLN3
    8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate MCOLN3 (see all 10):
    hsa-miR-137 hsa-miR-200a hsa-miR-3617 hsa-miR-373* hsa-miR-512-5p hsa-miR-141 hsa-miR-641 hsa-miR-616*
    SwitchGear 3'UTR luciferase reporter plasmidMCOLN3 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MCOLN3
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of MCOLN3

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for MCOLN3 (see all 7)
    OriGene ORF clones in mouse, rat for MCOLN3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MCOLN3 (NM_018298)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MCOLN3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MCOLN3
    Sirion Biotech Customized lentivirus for stable overexpression of MCOLN3 
                         Customized lentivirus expression plasmids for stable overexpression of MCOLN3 

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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCOLN3


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MCOLN3

    5/8 Interacting proteins for MCOLN3 (Q8TDD53) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000204490P013753I2D: score=1 
    ENSG00000206439P013753I2D: score=1 
    ENSG00000223952P013753I2D: score=1 
    ENSG00000228321P013753I2D: score=1 
    ENSG00000228849P013753I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport IEA--
    GO:0007626locomotory behavior IEA--
    GO:0042491auditory receptor cell differentiation IEA--

    MCOLN3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MCOLN3 (MCLN3)

    1 IUPHAR Ligand for MCOLN3 (TRPML3)    About this table 
    LigandTypeActionAffinityPubmed IDs
    Gd3+
    Channel blockerNone--

    Search CenterWatch for drugs/clinical trials and news about MCOLN3 / MCLN3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MCOLN3 gene (2 alternative transcripts): 
    NM_001253693.1  NM_018298.10  

    Unigene Cluster for MCOLN3:

    Mucolipin 3
    Hs.535239  [show with all ESTs]
    Unigene Representative Sequence: BC060765
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370589 ENST00000474447(uc001dko.3) ENST00000341115 ENST00000370587(uc001dkr.3)
    ENST00000490600(uc001dks.4) ENST00000475312
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MCOLN3
    8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate MCOLN3 (see all 10):
    hsa-miR-137 hsa-miR-200a hsa-miR-3617 hsa-miR-373* hsa-miR-512-5p hsa-miR-141 hsa-miR-641 hsa-miR-616*
    SwitchGear 3'UTR luciferase reporter plasmidMCOLN3 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MCOLN3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MCOLN3
    Clone
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    OriGene clones in human, mouse for MCOLN3 (see all 7)
    OriGene ORF clones in mouse, rat for MCOLN3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MCOLN3 (NM_018298)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MCOLN3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MCOLN3
    Sirion Biotech Customized lentivirus for stable overexpression of MCOLN3 
                         Customized lentivirus expression plasmids for stable overexpression of MCOLN3 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for MCOLN3
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MCOLN3
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MCOLN3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MCOLN3

    Additional mRNA sequence: 

    AF475085.1 AK001868.1 AK093948.1 AK095148.1 AK292206.1 AK314354.1 BC060765.1 BX647497.1 
    CR749858.1 

    6 DOTS entries:

    DT.97823593  DT.309807  DT.91749755  DT.100752033  DT.99935962  DT.100646501 

    24/52 AceView cDNA sequences (see all 52):

    BC060765 C01230 AI802103 BU634119 CK906184 AA724373 AF475085 BQ006750 
    AI868460 NM_018298 BE219997 BM127587 BV203284 AA171718 AA843790 AW665790 
    AK001868 CB159774 AW194465 W38833 AA171814 AW271980 AW779561 AV752191 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for MCOLN3    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12
    SP1:                                                                                                
    SP2:                          -     -                                                               
    SP3:                                -                                                               
    SP4:                                                                                                
    SP5:                                                                                                


    ECgene alternative splicing isoforms for MCOLN3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MCOLN3 expression in normal human tissues (normalized intensities)      MCOLN3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATTAAAGC
    MCOLN3 Expression
    About this image


    MCOLN3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Heart (Cardiovascular System)
             atrial myocardium   
     
     Adrenal Gland (Endocrine System)
             adrenal cortex   
     
     Endothelium (Cardiovascular System)
             Endothelial progenitor cells ( Derivation and purification of endothelial precursor...
     
     Bone (Muscoskeletal System)
             Zeugopod Growth Plate

     -- (Endocrine System)
             pituitary gland   

    See MCOLN3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MCOLN3

    SOURCE GeneReport for Unigene cluster: Hs.535239
        SABiosciences Custom PCR Arrays for MCOLN3
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MCOLN3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCOLN3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MCOLN3 gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mcoln31 , 5 mucolipin 31, 5 84.87(n)1
    91.14(a)1
      3 (71.03 cM)5
    1711661  NM_134160.11  NP_598921.11 
     1461174595 
    chicken
    (Gallus gallus)
    Aves MCOLN31 mucolipin 3 76.23(n)
    81.85(a)
      429091  XM_426647.3  XP_426647.3 
    lizard
    (Anolis carolinensis)
    Reptilia MCOLN36
    Uncharacterized protein
    84(a)
    1 ↔ 1
    GL343194.1(10082522-10096746)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia AL898576.22   -- 77.3(n)    AL898576.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1000011131 mucolipin-3-like 62.1(n)
    61.42(a)
      100001113  XM_001341146.5  XP_001341182.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG87433
    trpml1
    calcium ion transport calcium channel3
    transient receptor potential mucolipin1
    41(a)3
    50.43(n)1
    44.2(a)1
      76C33
    401521  NM_140888.31  NP_649145.11 
    worm
    (Caenorhabditis elegans)
    Secernentea cup-51 , 3 Expression: coelomocytes3
    Protein CUP-51
    36(a)3
    48.62(n)1
    37.58(a)1
      III -0.6500003
    1760741  NM_066263.31  NP_498664.31 


    ENSEMBL Gene Tree for MCOLN3 (if available)
    TreeFam Gene Tree for MCOLN3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MCOLN3 gene
    MCOLN22  MCOLN12  
    2 SIMAP similar genes for MCOLN3 using alignment to 3 protein entries:     MCLN3_HUMAN (see all proteins):
    MCOLN2    MCOLN1

    MCOLN3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/623 SNPs in MCOLN3 are shown (see all 623)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1840616351,2
    --85483277(+) TTTAAG/TCATAA 2 -- int10--------
    rs1465087481,2
    --85483432(+) GCTGCA/GACTAT 2 -- int10--------
    rs1896984011,2
    --85483442(+) TAGGCA/GTGTAC 2 -- int10--------
    rs1156308941,2
    C,F--85483499(+) TCACTA/GTGTTG 2 -- int11Minor allele frequency- G:0.06WA 118
    rs345342861,2
    C--85483560(+) TCCCAG/AAGTGA 2 -- int11Minor allele frequency- A:0.00NA 2
    rs677545701,2
    C--85483565(+) AGTGA-/CGGTAT 2 -- int10--------
    rs1467706481,2
    C--85483642(+) TAAAA-/CCACAG
    CCTCTCACC
    CCAAA
    2 -- int10--------
    rs773100921,2
    C,F--85483669(+) ACTTCG/ACTGTG 2 -- int11Minor allele frequency- A:0.04NA 120
    rs1408969691,2
    C--85483706(+) AGTACA/GTCACT 2 -- int10--------
    rs1923528391,2
    --85483724(+) ACAGGC/GTGCTC 2 -- int10--------

    HapMap Linkage Disequilibrium report for MCOLN3 (85483765 - 85514182 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MCOLN3:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv830448CNV Loss17160897
    nsv470724CNV Gain18288195
    nsv462383CNV Gain19166990

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing MCOLN3
    DNA2.0 Custom Variant and Variant Library Synthesis for MCOLN3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607400    OMIM disorders: --

    4 diseases for MCOLN3:    About MalaCards
    balance problems    mucolipidosis    intrahepatic cholangiocarcinoma    cholangiocarcinoma

    1 disease from the University of Copenhagen DISEASES database for MCOLN3:
    Mucolipidosis

    MCOLN3 for disorders           About GeneDecksing


    Export disorders for MCOLN3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MCOLN3 gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with MCOLN3)
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    1. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    2. International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels. (PubMed id 16382100)1, 3 Clapham D.E....Schultz G. (2005)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. The calcium channel mucolipin-3 is a novel regulator of trafficking along the endosomal pathway. (PubMed id 19497048)1, 9 Martina J.A....Puertollano R. (2009)
    5. Functional multimerization of mucolipin channel prote ins. (PubMed id 19885840)1, 9 Curcio-Morelli C....Slaugenhaupt S.A. (2010)
    6. A novel ion channel formed by interaction of TRPML3 wi th TRPV5. (PubMed id 23469151)1 Guo Z....Heller S. (2013)
    7. Constitutive activity of TRPML2 and TRPML3 channels ve rsus activation by low extracellular sodium and small molecules. (PubMed id 22753890)1 Grimm C....Heller S. (2012)
    8. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    9. Heteromultimeric TRPML channel assemblies play a cruc ial role in the regulation of cell viability models and starvation-induced auto phagy. (PubMed id 20736310)1 Zeevi D.A....Bach G. (2010)
    10. Properties of the TRPML3 channel pore and its stable expansion by the Varitint-Waddler-causing mutation. (PubMed id 20378547)1 Kim H.J....Muallem S. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55283 HGNC: 13358 AceView: MCOLN3 Ensembl:ENSG00000055732 euGenes: HUgn55283
    ECgene: MCOLN3 H-InvDB: MCOLN3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MCOLN3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MCOLN3 gene:
    Search GeneIP for patents involving MCOLN3

    GeneCards and IP:
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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