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Aliases for MCOLN2 Gene

Aliases for MCOLN2 Gene

  • Mucolipin 2 2 3 5
  • Transient Receptor Potential Channel Mucolipin 2 3 4
  • TRPML2 3 4
  • Mucolipin-2 3
  • TRP-ML2 3

External Ids for MCOLN2 Gene

Previous GeneCards Identifiers for MCOLN2 Gene

  • GC01M084529
  • GC01M084679
  • GC01M084814
  • GC01M084813
  • GC01M085103
  • GC01M085391
  • GC01M083501

Summaries for MCOLN2 Gene

Entrez Gene Summary for MCOLN2 Gene

  • 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]

GeneCards Summary for MCOLN2 Gene

MCOLN2 (Mucolipin 2) is a Protein Coding gene. Among its related pathways are Ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. An important paralog of this gene is MCOLN3.

UniProtKB/Swiss-Prot for MCOLN2 Gene

  • Nonselective cation channel probably playing a role in the regulation of membrane trafficking events. Acts as Ca(2+)-permeable cation channel with inwardly rectifying activity (PubMed:19940139, PubMed:19885840). May activate ARF6 and be involved in the trafficking of GPI-anchored cargo proteins to the cell surface via the ARF6-regulated recycling pathway (PubMed:17662026). May play a role in immune processes. In adaptive immunity, TRPML2 and TRPML1 may play redundant roles in the function of the specialized lysosomes of B cells (By similarity). In the innate immune response, may play a role in the regulation of chemokine secretion and macrophage migration (By similarity). Through a possible and probably tissue-specific heteromerization with MCOLN1 may be at least in part involved in many lysosome-dependent cellular events (PubMed:19885840).

Gene Wiki entry for MCOLN2 Gene

Additional gene information for MCOLN2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MCOLN2 Gene

Genomics for MCOLN2 Gene

GeneHancer (GH) Regulatory Elements for MCOLN2 Gene

Promoters and enhancers for MCOLN2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I084994 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 619.8 +1.3 1274 3.5 PKNOX1 BMI1 BATF IRF4 ZNF335 GLIS2 ZNF143 ZNF207 ATF7 KLF7 MCOLN2 MCOLN3 LPAR3
GH01I084997 Enhancer 0.5 ENCODE 612.7 -1.6 -1627 1.5 SMARCA5 ZNF121 POLR2A SUZ12 NFATC1 NRF1 EZH2 MCOLN2 WDR63
GH01I085061 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 37.9 -65.1 -65130 1.5 PKNOX1 ATF1 SIN3A BMI1 ZNF2 RFX5 ZNF335 GLIS2 ZNF366 FOS WDR63 MCOLN2 MCOLN3 MIR4423
GH01I084971 Enhancer 0.7 ENCODE 66.6 +24.3 24286 2.4 HDGF FEZF1 RELA FOXM1 ZFHX2 NFATC1 IKZF2 RUNX3 TCF7L2 ZNF687 MCOLN2 WDR63 LPAR3
GH01I084968 Enhancer 0.7 ENCODE 61 +27.4 27418 1.8 SMAD1 PAX8 EBF1 BATF KLF5 IRF4 RELA ATF7 ETV6 IKZF2 MCOLN2 MCOLN3 WDR63 LPAR3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MCOLN2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MCOLN2 gene promoter:

Genomic Locations for MCOLN2 Gene

Genomic Locations for MCOLN2 Gene
chr1:84,925,583-84,997,122
(GRCh38/hg38)
Size:
71,540 bases
Orientation:
Minus strand
chr1:85,391,266-85,462,796
(GRCh37/hg19)

Genomic View for MCOLN2 Gene

Genes around MCOLN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MCOLN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MCOLN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCOLN2 Gene

Proteins for MCOLN2 Gene

  • Protein details for MCOLN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IZK6-MCLN2_HUMAN
    Recommended name:
    Mucolipin-2
    Protein Accession:
    Q8IZK6
    Secondary Accessions:
    • A6NI99
    • Q2M3I6
    • Q5TAG5
    • Q8N9R3

    Protein attributes for MCOLN2 Gene

    Size:
    566 amino acids
    Molecular mass:
    65942 Da
    Quaternary structure:
    • Forms homooligomeric complexes; probably tetrameric (By similarity). Can heterooligomerize with MCOLN1; heteromeric assemblies have different channel properties as compared to the respective homooligomers and may be tissue-specific (PubMed:19885840). Interacts with TMEM176A (PubMed:25130899).
    SequenceCaution:
    • Sequence=BAC04267.1; Type=Erroneous termination; Positions=64; Note=Translated as Trp.; Evidence={ECO:0000305};

    Alternative splice isoforms for MCOLN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MCOLN2 Gene

Post-translational modifications for MCOLN2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MCOLN2 Gene

Domains & Families for MCOLN2 Gene

Gene Families for MCOLN2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters
  • Voltage-gated ion channels

Protein Domains for MCOLN2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MCOLN2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IZK6

UniProtKB/Swiss-Prot:

MCLN2_HUMAN :
  • The most N-terminal extracellular/lumenal domain (referred to as I-II linker or polycystin-mucolipin domain) contributes to a structure with a four-fold rotational symmetry in a tetrameric assembly; the structure contains a central highly electronegative pore with a 14 A diameter. The pore is critical for Ca(2+) and pH regulation. The protruding structure formed by the I-II linkers may contain all the interaction sites with lipids and proteins in the endolysosomal lumen.
  • Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN2 sub-subfamily.
Domain:
  • The most N-terminal extracellular/lumenal domain (referred to as I-II linker or polycystin-mucolipin domain) contributes to a structure with a four-fold rotational symmetry in a tetrameric assembly; the structure contains a central highly electronegative pore with a 14 A diameter. The pore is critical for Ca(2+) and pH regulation. The protruding structure formed by the I-II linkers may contain all the interaction sites with lipids and proteins in the endolysosomal lumen.
Family:
  • Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN2 sub-subfamily.
genes like me logo Genes that share domains with MCOLN2: view

Function for MCOLN2 Gene

Molecular function for MCOLN2 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
Channel activity is reduced by low extracellular/lumenal pH level (PubMed:19940139).
UniProtKB/Swiss-Prot Function:
Nonselective cation channel probably playing a role in the regulation of membrane trafficking events. Acts as Ca(2+)-permeable cation channel with inwardly rectifying activity (PubMed:19940139, PubMed:19885840). May activate ARF6 and be involved in the trafficking of GPI-anchored cargo proteins to the cell surface via the ARF6-regulated recycling pathway (PubMed:17662026). May play a role in immune processes. In adaptive immunity, TRPML2 and TRPML1 may play redundant roles in the function of the specialized lysosomes of B cells (By similarity). In the innate immune response, may play a role in the regulation of chemokine secretion and macrophage migration (By similarity). Through a possible and probably tissue-specific heteromerization with MCOLN1 may be at least in part involved in many lysosome-dependent cellular events (PubMed:19885840).

Phenotypes From GWAS Catalog for MCOLN2 Gene

Gene Ontology (GO) - Molecular Function for MCOLN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005262 calcium channel activity TAS --
genes like me logo Genes that share ontologies with MCOLN2: view
genes like me logo Genes that share phenotypes with MCOLN2: view

Animal Models for MCOLN2 Gene

MGI Knock Outs for MCOLN2:

Animal Model Products

  • Taconic Biosciences Mouse Models for MCOLN2

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MCOLN2 Gene

Localization for MCOLN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCOLN2 Gene

Cell membrane; Multi-pass membrane protein. Late endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein. Recycling endosome membrane; Multi-pass membrane protein. Note=Localizes to recycling endosomes in activated macrophages and microglia. {ECO:0000250 UniProtKB:Q8K595}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MCOLN2 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 4
lysosome 4
endosome 4
nucleus 2
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MCOLN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA --
GO:0005768 endosome IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MCOLN2: view

Pathways & Interactions for MCOLN2 Gene

genes like me logo Genes that share pathways with MCOLN2: view

Pathways by source for MCOLN2 Gene

Interacting Proteins for MCOLN2 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000359640%0d%0a9606.ENSP00000304843%0d%0a9606.ENSP00000398698%0d%0a
Selected Interacting proteins: ENSP00000359640 Q8IZK6-MCLN2_HUMAN for MCOLN2 Gene via STRING IID

Gene Ontology (GO) - Biological Process for MCOLN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
genes like me logo Genes that share ontologies with MCOLN2: view

No data available for SIGNOR curated interactions for MCOLN2 Gene

Drugs & Compounds for MCOLN2 Gene

(2) Drugs for MCOLN2 Gene - From: Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ML SA1 Pharma Activator of TRPML channels 0
SN 2 Pharma Selective TRPML3 channel activator 0

(1) Additional Compounds for MCOLN2 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
MK6-83
1062271-24-2

(3) Tocris Compounds for MCOLN2 Gene

Compound Action Cas Number
MK6-83 TRPML channel activator 1062271-24-2
ML SA1 Activator of TRPML channels 332382-54-4
SN 2 Selective TRPML3 channel activator 823218-99-1
genes like me logo Genes that share compounds with MCOLN2: view

Transcripts for MCOLN2 Gene

Unigene Clusters for MCOLN2 Gene

Mucolipin 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MCOLN2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c
SP1: -
SP2: - - - -
SP3:

Relevant External Links for MCOLN2 Gene

GeneLoc Exon Structure for
MCOLN2
ECgene alternative splicing isoforms for
MCOLN2

Expression for MCOLN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MCOLN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MCOLN2 Gene

This gene is overexpressed in Colon - Transverse (x4.5).

Protein differential expression in normal tissues from HIPED for MCOLN2 Gene

This gene is overexpressed in Ovary (21.0), Testis (13.2), Skin (11.6), and Spleen (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MCOLN2 Gene



NURSA nuclear receptor signaling pathways regulating expression of MCOLN2 Gene:

MCOLN2

SOURCE GeneReport for Unigene cluster for MCOLN2 Gene:

Hs.591446
genes like me logo Genes that share expression patterns with MCOLN2: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MCOLN2 Gene

Orthologs for MCOLN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MCOLN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MCOLN2 33 34
  • 99.65 (n)
dog
(Canis familiaris)
Mammalia MCOLN2 33
  • 90.95 (n)
cow
(Bos Taurus)
Mammalia MCOLN2 33 34
  • 89.1 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MCOLN2 34
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mcoln2 33
  • 83.27 (n)
mouse
(Mus musculus)
Mammalia Mcoln2 33 16 34
  • 82.52 (n)
oppossum
(Monodelphis domestica)
Mammalia MCOLN2 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves MCOLN2 33 34
  • 75.34 (n)
lizard
(Anolis carolinensis)
Reptilia MCOLN2 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mcoln2 33
  • 71.26 (n)
Str.20445 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.1707 33
zebrafish
(Danio rerio)
Actinopterygii mcoln2 33
  • 63.4 (n)
MCOLN2 34
  • 51 (a)
OneToOne
zgc55310 33
fruit fly
(Drosophila melanogaster)
Insecta CG42638 34
  • 32 (a)
ManyToMany
trpml 34
  • 32 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea cup-5 34
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
OneToMany
Species where no ortholog for MCOLN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MCOLN2 Gene

ENSEMBL:
Gene Tree for MCOLN2 (if available)
TreeFam:
Gene Tree for MCOLN2 (if available)

Paralogs for MCOLN2 Gene

Paralogs for MCOLN2 Gene

(2) SIMAP similar genes for MCOLN2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MCOLN2: view

Variants for MCOLN2 Gene

Sequence variations from dbSNP and Humsavar for MCOLN2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000087110 -- 84,967,229(-) C/A intron_variant
rs1000149965 -- 84,925,255(-) C/T downstream_transcript_variant
rs1000186344 -- 84,966,073(-) T/A/G intron_variant
rs1000230652 -- 84,933,358(-) A/G genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant
rs1000236428 -- 84,990,868(-) G/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MCOLN2 Gene

Variant ID Type Subtype PubMed ID
esv3360051 CNV insertion 20981092
nsv462383 CNV gain 19166990
nsv470724 CNV gain 18288195
nsv546700 CNV gain 21841781
nsv830448 CNV loss 17160897
nsv947434 CNV duplication 23825009
nsv950201 CNV duplication 24416366

Variation tolerance for MCOLN2 Gene

Residual Variation Intolerance Score: 53% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.51; 71.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MCOLN2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MCOLN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCOLN2 Gene

Disorders for MCOLN2 Gene

Additional Disease Information for MCOLN2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for MCOLN2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MCOLN2 Gene

Publications for MCOLN2 Gene

  1. Functional multimerization of mucolipin channel proteins. (PMID: 19885840) Curcio-Morelli C … Slaugenhaupt SA (Journal of cellular physiology 2010) 3 4 22 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. Constitutive activity of the human TRPML2 channel induces cell degeneration. (PMID: 19940139) Lev S … Minke B (The Journal of biological chemistry 2010) 3 4 58
  4. Mucolipin-2 localizes to the Arf6-associated pathway and regulates recycling of GPI-APs. (PMID: 17662026) Karacsonyi C … Puertollano R (Traffic (Copenhagen, Denmark) 2007) 3 4 58
  5. International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels. (PMID: 16382100) Clapham DE … Schultz G (Pharmacological reviews 2005) 2 3 58

Products for MCOLN2 Gene

Sources for MCOLN2 Gene

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