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

Gene ID: 255231, updated on 23-Nov-2021

Summary

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
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
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Genomic context

See MCOLN2 in Genome Data Viewer
Location:
1p22.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (84925583..84997113, complement)
105.20201022 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 lysophosphatidic acid receptor 3 Neighboring gene Sharpr-MPRA regulatory region 13288 Neighboring gene mucolipin TRP cation channel 3 Neighboring gene dynein axonemal intermediate chain 3 Neighboring gene protein GVQW1-like

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
enables calcium channel activity TAS
Traceable Author Statement
more info
 
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NOT is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

Preferred Names
mucolipin-2
Names
mucolipin 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_001330647.2NP_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_153259.4NP_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
    Q8IZK6
    Related
    ENSP00000359640.3, ENST00000370608.8
    Conserved Domains (1) summary
    cl27887
    Location:388513
    PKD_channel; Polycystin cation channel

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005270719.3XP_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:360485
    PKD_channel; Polycystin cation channel
  2. XM_011541188.3XP_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:360485
    PKD_channel; Polycystin cation channel
  3. XM_011541187.2XP_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:360485
    PKD_channel; Polycystin cation channel
  4. XM_017000923.1XP_016856412.1  mucolipin-2 isoform X2

    Related
    ENSP00000436299.1, ENST00000463065.5

RNA

  1. XR_001737091.2 RNA Sequence

  2. XR_001737090.2 RNA Sequence

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