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    MCOLN2 mucolipin TRP cation channel 2 [ Homo sapiens (human) ]

    Gene ID: 255231, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MCOLN2provided by HGNC
    Official Full Name
    mucolipin TRP cation channel 2provided by HGNC
    Primary source
    HGNC:HGNC:13357
    See related
    Ensembl:ENSG00000153898 MIM:607399; AllianceGenome:HGNC:13357
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TRPML2; TRP-ML2
    Summary
    Mucolipins constitute a family of cation channel proteins with homology to the transient receptor potential superfamily. In mammals, the mucolipin family includes 3 members, MCOLN1 (MIM 605248), MCOLN2, and MCOLN3 (MIM 607400), that exhibit a common 6-membrane-spanning topology. Homologs of mammalian mucolipins exist in Drosophila and C. elegans. Mutations in the human MCOLN1 gene cause mucolipodosis IV (MIM 262650) (Karacsonyi et al., 2007 [PubMed 17662026]).[supplied by OMIM, Sep 2009]
    Expression
    Broad expression in lymph node (RPKM 3.6), spleen (RPKM 2.0) and 14 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MCOLN2 in Genome Data Viewer
    Location:
    1p22.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (84925583..84997113, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (84766210..84837786, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (85391266..85462796, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1258 Neighboring gene lysophosphatidic acid receptor 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1259 Neighboring gene Sharpr-MPRA regulatory region 13288 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1026 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1261 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1262 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1264 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1027 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1028 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:85463659-85464530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1265 Neighboring gene mucolipin TRP cation channel 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1029 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1030 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:85527645-85528145 Neighboring gene dynein axonemal intermediate chain 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Mucolipin-2 localizes to the Arf6-associated pathway and regulates recycling of GPI-APs. Karacsonyi C, et al. Traffic, 2007 Oct. PMID 17662026
    2. Constitutive activity of the human TRPML2 channel induces cell degeneration. Lev S, et al. J Biol Chem, 2010 Jan 22. PMID 19940139, Free PMC Article
    3. Overexpression of transient receptor potential mucolipin-2 ion channels in gliomas: role in tumor growth and progression. Morelli MB, et al. Oncotarget, 2016 Jul 12. PMID 27248469, Free PMC Article
    4. Structure of the Human TRPML2 Ion Channel Extracytosolic/Lumenal Domain. Viet KK, et al. Structure, 2019 Aug 6. PMID 31178222
    5. Mucolipin-2 Cation Channel Increases Trafficking Efficiency of Endocytosed Viruses. Rinkenberger N, et al. mBio, 2018 Jan 30. PMID 29382735, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Functional In Vitro Assessment of VEGFA/NOTCH2 Signaling Pathway and pRB Proteasomal Degradation and the Clinical Relevance of Mucolipin TRPML2 Overexpression in Glioblastoma Patients.
      Title: Functional In Vitro Assessment of VEGFA/NOTCH2 Signaling Pathway and pRB Proteasomal Degradation and the Clinical Relevance of Mucolipin TRPML2 Overexpression in Glioblastoma Patients.
    2. Endolysosomal ion channel MCOLN2 (Mucolipin-2) promotes prostate cancer progression via IL-1beta/NF-kappaB pathway.
      Title: Endolysosomal ion channel MCOLN2 (Mucolipin-2) promotes prostate cancer progression via IL-1β/NF-κB pathway.
    3. The acidic TRPML2 extracytosolic/lumenal domain (ELD) pre-pore loop exhibits a pH-dependent Ca2+ interaction, suggesting a mechanism for channel activity regulation in the endolysosomal system.
      Title: Structure of the Human TRPML2 Ion Channel Extracytosolic/Lumenal Domain.
    4. The authors show that MCOLN2 specifically promotes viral vesicular trafficking and subsequent escape from endosomal compartments. This mechanism requires channel activity, occurs independently of antiviral signaling, and broadly applies to enveloped RNA viruses that require transport to late endosomes for infection, including influenza A virus, yellow fever virus, and Zika virus.
      Title: Mucolipin-2 Cation Channel Increases Trafficking Efficiency of Endocytosed Viruses.
    5. High TRPML-2 expression in glioma cells resulted in increased survival and proliferation signaling, suggesting a pro-tumorigenic role played by TRPML-2 in glioma progression.
      Title: Overexpression of transient receptor potential mucolipin-2 ion channels in gliomas: role in tumor growth and progression.
    6. MCOLN2 is transcriptionally activated by PAX5 and has roles in B cell development and function
      Title: PAX5 is the transcriptional activator of mucolipin-2 (MCOLN2) gene.
    7. TRPML2 is activated by lowering the extracellular sodium concentration as well as by a subset of small chemical compounds that were previously identified as activators of TRPML3.
      Title: Constitutive activity of TRPML2 and TRPML3 channels versus activation by low extracellular sodium and small molecules.
    8. TRPML 1, 2 and 3 assemblies regulated cell viability and starvation-induced autophagy.
      Title: Heteromultimeric TRPML channel assemblies play a crucial role in the regulation of cell viability models and starvation-induced autophagy.
    9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    10. constitutively active h-TRPML2 leads to cell death by causing Ca(2+) overload
      Title: Constitutive activity of the human TRPML2 channel induces cell degeneration.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ36691

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NAADP-sensitive calcium-release channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium channel activity TAS
    Traceable Author Statement
    more info
    		  
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables iron ion transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in calcium ion transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in calcium-mediated signaling 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
    		  
    involved_in macrophage migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neutrophil migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of chemokine (C-C motif) ligand 5 production IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of chemokine (C-X-C motif) ligand 2 production IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of macrophage inflammatory protein 1 alpha production IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of monocyte chemotactic protein-1 production IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in late endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT is_active_in lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    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 TAS
    Traceable Author Statement
    more info
    		  
    located_in recycling endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001330647.2 → NP_001317576.1  mucolipin-2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AL139150, AL358789
      Consensus CDS
      CCDS81347.1
      UniProtKB/Swiss-Prot
      Q8IZK6

    2. NM_153259.4 → NP_694991.2  mucolipin-2 isoform 1

      See identical proteins and their annotated locations for NP_694991.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AA664369, AK094010, AL139150, AL358789, BC104891, BF512441, DR007194
      Consensus CDS
      CCDS30762.1
      UniProtKB/Swiss-Prot
      A6NI99, Q2M3I6, Q5TAG5, Q8IZK6, Q8N9R3
      Related
      ENSP00000359640.3, ENST00000370608.8
      Conserved Domains (1) summary
      cl27887
      Location:388 → 513
      PKD_channel; Polycystin cation channel

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      84925583..84997113 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005270719.4 → XP_005270776.1  mucolipin-2 isoform X1

      See identical proteins and their annotated locations for XP_005270776.1

      UniProtKB/Swiss-Prot
      Q8IZK6
      Related
      ENSP00000284027.5, ENST00000284027.5
      Conserved Domains (1) summary
      pfam08016
      Location:360 → 485
      PKD_channel; Polycystin cation channel

    2. XM_011541188.4 → XP_011539490.1  mucolipin-2 isoform X1

      See identical proteins and their annotated locations for XP_011539490.1

      UniProtKB/Swiss-Prot
      Q8IZK6
      Conserved Domains (1) summary
      pfam08016
      Location:360 → 485
      PKD_channel; Polycystin cation channel

    3. XM_011541187.3 → XP_011539489.1  mucolipin-2 isoform X1

      See identical proteins and their annotated locations for XP_011539489.1

      UniProtKB/Swiss-Prot
      Q8IZK6
      Conserved Domains (1) summary
      pfam08016
      Location:360 → 485
      PKD_channel; Polycystin cation channel

    4. XM_047416964.1 → XP_047272920.1  mucolipin-2 isoform X3

    5. XM_047416962.1 → XP_047272918.1  mucolipin-2 isoform X2

    6. XM_047416968.1 → XP_047272924.1  mucolipin-2 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      84766210..84837786 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335780.1 → XP_054191755.1  mucolipin-2 isoform X1

    2. XM_054335782.1 → XP_054191757.1  mucolipin-2 isoform X1

    3. XM_054335781.1 → XP_054191756.1  mucolipin-2 isoform X1

    4. XM_054335783.1 → XP_054191758.1  mucolipin-2 isoform X3

    5. XM_054335784.1 → XP_054191759.1  mucolipin-2 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IZK6.2 GenPept UniProtKB/Swiss-Prot:Q8IZK6

    Gene LinkOut

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

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