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    Mcoln2 mucolipin 2 [ Mus musculus (house mouse) ]

    Gene ID: 68279, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Mcoln2provided by MGI
    Official Full Name
    mucolipin 2provided by MGI
    Primary source
    MGI:MGI:1915529
    See related
    Ensembl:ENSMUSG00000011008 AllianceGenome:MGI:1915529
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    TRPML2; 3300002C04Rik
    Summary
    Enables identical protein binding activity and iron ion transmembrane transporter activity. Acts upstream of or within myeloid leukocyte migration and positive regulation of chemokine production. Located in recycling endosome. Is expressed in cochlea. Orthologous to human MCOLN2 (mucolipin TRP cation channel 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in placenta adult (RPKM 10.1), large intestine adult (RPKM 2.8) and 11 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mcoln2 in Genome Data Viewer
    Location:
    3 H2; 3 71.03 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (145855552..145901269)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (146149796..146195514)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_09216 Neighboring gene CapStarr-seq enhancer MGSCv37_chr3:145726222-145726405 Neighboring gene dynein axonemal intermediate chain 3 Neighboring gene STARR-positive B cell enhancer mm9_chr3:145770955-145771256 Neighboring gene mucolipin 3 Neighboring gene STARR-positive B cell enhancer mm9_chr3:145797888-145798188 Neighboring gene predicted gene, 25627 Neighboring gene STARR-positive B cell enhancer mm9_chr3:145815297-145815597 Neighboring gene STARR-positive B cell enhancer ABC_E9580 Neighboring gene STARR-positive B cell enhancer mm9_chr3:145847906-145848206 Neighboring gene STARR-seq mESC enhancer starr_09219 Neighboring gene lysophosphatidic acid receptor 3 Neighboring gene STARR-positive B cell enhancer mm9_chr3:145920440-145920741 Neighboring gene STARR-seq mESC enhancer starr_09220 Neighboring gene STARR-seq mESC enhancer starr_09221 Neighboring gene predicted gene, 40167

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel. Dong XP, et al. Nature, 2008 Oct 16. PMID 18794901, Free PMC Article
    2. Differential expression and molecular characterisation of Lmo7, Myo1e, Sash1, and Mcoln2 genes in Btk-defective B-cells. Lindvall JM, et al. Cell Immunol, 2005 May. PMID 16137664
    3. Selective agonist of TRPML2 reveals direct role in chemokine release from innate immune cells. Plesch E, et al. Elife, 2018 Nov 27. PMID 30479274, Free PMC Article
    4. The tissue-specific expression of TRPML2 (MCOLN-2) gene is influenced by the presence of TRPML1. Samie MA, et al. Pflugers Arch, 2009 Nov. PMID 19763610, Free PMC Article
    5. Mucolipin co-deficiency causes accelerated endolysosomal vacuolation of enterocytes and failure-to-thrive from birth to weaning. Remis NN, et al. PLoS Genet, 2014 Dec. PMID 25521295, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. These data provide a direct link between TRPML2 activation, CCL2 release and stimulation of macrophage migration in the innate immune response.
      Title: Selective agonist of TRPML2 reveals direct role in chemokine release from innate immune cells.
    2. study reveals interesting differences in the regulation and distribution of the members of the TRPML family and identifies a novel role for TRPML2 in the innate immune response.
      Title: Novel Role of TRPML2 in the Regulation of the Innate Immune Response.
    3. TRPML1 appears to play a novel role in the tissue-specific transcriptional regulation of TRPML2.
      Title: The tissue-specific expression of TRPML2 (MCOLN-2) gene is influenced by the presence of TRPML1.
    4. Expressed in both B-cell lines and primary B-lymphocytes.
      Title: Differential expression and molecular characterisation of Lmo7, Myo1e, Sash1, and Mcoln2 genes in Btk-defective B-cells.
    5. 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
      Title: Lysosomal localization of TRPML3 depends on TRPML2 and the mucolipidosis-associated protein TRPML1.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (3)  1 citation

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables NAADP-sensitive calcium-release channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables iron ion transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in iron ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within macrophage migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within neutrophil migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of chemokine (C-C motif) ligand 5 production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of chemokine (C-X-C motif) ligand 2 production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of chemokine production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of macrophage inflammatory protein 1 alpha production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of monocyte chemotactic protein-1 production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within regulation of chemokine (C-X-C motif) ligand 2 production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    NOT is_active_in lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    NOT is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in recycling endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in recycling endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    mucolipin-2
    Names
    mucolipidin 2
    transient receptor potential channel mucolipin 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001005846.2 → NP_001005846.1  mucolipin-2 isoform 2

      See identical proteins and their annotated locations for NP_001005846.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate 5' exon and uses a downstream AUG start codon, as compared to variant 1. The encoded isoform 2 has a shorter N-terminus, as compared to isoform 1.
      Source sequence(s)
      AI447424, AK019454, CJ134616
      Consensus CDS
      CCDS38664.1
      UniProtKB/TrEMBL
      Q3U652
      Related
      ENSMUSP00000096125.5, ENSMUST00000098524.5
      Conserved Domains (1) summary
      pfam08016
      Location:352 → 485
      PKD_channel; Polycystin cation channel

    2. NM_026656.5 → NP_080932.2  mucolipin-2 isoform 1

      See identical proteins and their annotated locations for NP_080932.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC122513, AC161212, AC171269
      Consensus CDS
      CCDS38663.1
      UniProtKB/Swiss-Prot
      Q3UCG4, Q8K2T6, Q8K595, Q9CQD3
      UniProtKB/TrEMBL
      Q3U652
      Related
      ENSMUSP00000011152.8, ENSMUST00000011152.14
      Conserved Domains (1) summary
      pfam08016
      Location:380 → 513
      PKD_channel; Polycystin cation channel

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000069.7 Reference GRCm39 C57BL/6J

      Range
      145855552..145901269
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011240209.4 → XP_011238511.1  mucolipin-2 isoform X2

    2. XM_006501969.5 → XP_006502032.1  mucolipin-2 isoform X1

      UniProtKB/TrEMBL
      Q3U652
      Conserved Domains (1) summary
      pfam08016
      Location:380 → 513
      PKD_channel; Polycystin cation channel

    RNA

    1. XR_003954374.2 RNA Sequence

    2. XR_003954373.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8K595.1 GenPept UniProtKB/Swiss-Prot:Q8K595

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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