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FLASH GENE
Symbol MCOLN2 contributors: mct - updated : 25-03-2016
HGNC name mucolipin 2
HGNC id 13357
Location 1p22.3      Physical location : 85.391.266 - 85.462.796
Synonym symbol(s) FLJ36691, TRPML2, TRP-ML2
DNA
TYPE functioning gene
STRUCTURE 71.53 kb     14 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
FLJ23033 1p22.3 hypothetical protein FLJ23033 PRKACB 1p36.1or protein kinase, cAMP-dependent, catalytic, beta LOC148418 1p22.3 dnaj-like protein LOC391051 1 similar to urate oxidase (EC 1.7.3.3) - baboon DLAD 1p31.1 similar to urate oxidase (EC 1.7.3.3) - baboon RPF1 1p22.3 similar to urate oxidase (EC 1.7.3.3) - baboon GNG5 1p22 guanine nucleotide binding protein (G protein), gamma 5 SPATA1 1p22.3 spermatogenesis associated 1 CTBS 1p22 chitobiase, di-N-acetyl- FLJ35487 1p22.3 hypothetical protein FLJ35487 SSX2IP 1p22 synovial sarcoma, X breakpoint 2 interacting protein EDG7 1p22.3-p31.1 endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7 MCOLN2 1p22 mucolipin 2 MCOLN3 1p22.3 mucolipin 3 NYD-SP29 1p22.3 testis development protein NYD-SP29 FLJ13815 1p22.3 hypothetical protein FLJ13815 gm117 1p22.3 gm117 BCL10 1p22 B-cell CLL/lymphoma 10 DDAH1 1p22 dimethylarginine dimethylaminohydrolase 1 CYR61 1p31.p22 cysteine-rich, angiogenic inducer, 61 FLJ20729 1p22.3 hypothetical protein FLJ20729 COL24A1 1p22.3-p22.2 collagen, type XXIV, alpha 1 KIAA1229 1p22.3 KIAA1229 protein CLCA2 1p31-p22 chloride channel, calcium activated, family member 2 CLCA1 1p31-p22 chloride channel, calcium activated, family member 1 CLCA4 1p31-p22 chloride channel, calcium activated, family member 4 CLCA3 1p31-p22 chloride channel, calcium activated, family member 3
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
14 - 3060 - 566 - Venkatachalam (2006)
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestiveintestinelarge intestinecolon  
 liver    
Lymphoid/Immunelymph node   highly Homo sapiens
 spleen   highly Homo sapiens
 thymus   highly Homo sapiens
Urinarykidney     Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Lymphoid/ImmuneB cell
cell lineage
cell lines adenocarcinoma, melanotic melanoma
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • six predicted transmembrane domains
  • intracellular N- and C-terminus regions
  • HOMOLOGY
    interspecies ortholog to murine Mcoln2
    homolog to zebrafish zgc55310
    ortholog to xenopus Xl.1707
    Homologene
    FAMILY
  • transient receptor family
  • polycystin subfamily
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    text
  • recycling endosomes and LEL (Cheng 2010)
  • is present in lysosomes, late endosomes, recycling endosomes and, at a lower level, the plasma membrane
  • basic FUNCTION
  • with MCOLN1, dictate the localization of MCOLN3 and not vice versa (Venkatachalam 2006)
  • traffics via the Arf6-associated pathway and colocalizes with major histocompatibility protein class I (MHCI) and glycosylphosphatidylinositol-anchored proteins (GPI-APs), such as CD59 in both vesicles and long tubular structures (Karacsonyi 2007)
  • may have a role in the traffic of cargo through the Arf6-associated pathway (Karacsonyi 2007)
  • with MCOLN3, might participate with native MCOLN1 in a dynamic form of lysosomal regulation (Zeevi 2009)
  • displays nonselective cation permeability
  • induces cell degeneration by Ca2+ overload
  • may function in the plasma membrane and its abundance in vesicles of the endocytic pathaway might occur because its presence in the cell surface is regulated by endocytosis and exocytosis
  • MCOLN2 and MCOLN3 are nonselective cation channels
  • functional activity of MCOLN2 at the plasma membrane and suggesting similar gating mechanisms for both TRPML channels
  • serves a role in the immune system, and its expression would be likely regulated by an immune-associated transcription factor protein
  • may serve a critical role in immune cell development and inflammatory responses
  • novel role for TRPML2 in the innate immune response (pMID: 26432893)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text Ca2+ permeable (Lev 2010)
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • selectivity for ions Na+, K+, Ca2+ and Fe2+ (Cheng 2010)
  • protein
  • interacting with MCOLN1 and MCOLN3 (Cheng 2010)
  • PAX5 controls MCOLN2 expression
  • cell & other
    REGULATION
    inhibited by low extracytosolic pH but not Ca2+ regulated (Lev 2010)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene for hereditary and/or sporadic forms of neurosensory disorders
    Marker
    Therapy target
    ANIMAL & CELL MODELS