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Mcoln2 mucolipin 2 [ Mus musculus (house mouse) ]

Gene ID: 68279, updated on 11-Apr-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. 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, Apr 2022]
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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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
  • 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. 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
  2. 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
  3. 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
  4. 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
  5. Novel Role of TRPML2 in the Regulation of the Innate Immune Response. Sun L, et al. J Immunol, 2015 Nov 15. PMID 26432893, Free PMC Article

See all (23) 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)
  • Targeted (3)  1 citation
  • Endonuclease-mediated (3) 

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 monoatomic cation channel activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within adaptive immune response IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within calcium ion transport IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within immune system process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within innate immune response 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 monoatomic ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
  
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 
acts_upstream_of_or_within 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
located_in endosome IEA
Inferred from Electronic Annotation
more info
  
NOT is_active_in lysosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in lysosome 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 recycling endosome IDA
Inferred from Direct Assay
more info
 PubMed 

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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