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Aliases for MCOLN2 Gene

Aliases for MCOLN2 Gene

  • Mucolipin 2 2 3 5
  • Mucolipin-2 3
  • TRP-ML2 3
  • TRPML2 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 TRP channels. An important paralog of this gene is MCOLN3.

Gene Wiki entry for MCOLN2 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MCOLN2 Gene

Genomics for MCOLN2 Gene

Regulatory Elements for MCOLN2 Gene

Enhancers for MCOLN2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F084971 1.1 Ensembl ENCODE 66.6 +24.2 24211 2.6 HDGF FEZF1 THRB RAD21 YY1 RARA MIXL1 CEBPB REST PPARG MCOLN2 WDR63 LPAR3
GH01F084994 1 ENCODE 69.8 +1.5 1462 3.1 PKNOX1 WRNIP1 SIN3A ARID4B ZNF48 YY1 GLIS2 SP3 JUNB TBX21 MCOLN2 MCOLN3 LOC105378818 LPAR3
GH01F084997 0.9 ENCODE 62.6 -1.6 -1627 1.5 KLF17 SIN3A YY1 ZNF335 ZNF121 GLIS2 SCRT2 EGR2 SP3 YY2 MCOLN2 WDR63
GH01F084959 1.1 Ensembl ENCODE 49.8 +36.7 36709 1.1 PKNOX1 JUN MAX SIN3A CEBPG RFX5 TEAD3 ZNF121 GATA3 CTBP1 MCOLN2 MCOLN3 LPAR3
GH01F084968 0.8 ENCODE 61 +27.4 27418 1.8 USF1 EBF1 RELA ZNF664 POLR2A EED ETV6 CREM MAZ MTA2 MCOLN2 MCOLN3 WDR63 LPAR3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MCOLN2 on UCSC Golden Path with GeneCards custom track

Promoters for MCOLN2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000539897 22 3001 PKNOX1 SIN3A FEZF1 ZNF48 YY1 GLIS2 KLF7 SP3 JUNB TBX21

Genomic Location for MCOLN2 Gene

Chromosome:
1
Start:
84,925,583 bp from pter
End:
84,997,122 bp from pter
Size:
71,540 bases
Orientation:
Minus strand

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:
    No Data Available
    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

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 :
  • Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN2 sub-subfamily.
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

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 Model Products

  • Taconic Biosciences Mouse Models for MCOLN2

Inhibitory RNA Products

Flow Cytometry Products

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

Localization for MCOLN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCOLN2 Gene

Membrane; Multi-pass membrane protein.

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
nucleus 2
cytosol 2
lysosome 2
endosome 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for MCOLN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of 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

Selected Interacting proteins: Q8IZK6-MCLN2_HUMAN for MCOLN2 Gene via IID

Symbol External ID(s) Details
MCOLN3

Gene Ontology (GO) - Biological Process for MCOLN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0070588 calcium ion transmembrane transport TAS --
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:

Inhibitory RNA Products

Flow Cytometry 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 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

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.65 (n)
dog
(Canis familiaris)
Mammalia MCOLN2 34
  • 90.95 (n)
cow
(Bos Taurus)
Mammalia MCOLN2 34 35
  • 89.1 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MCOLN2 35
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mcoln2 34
  • 83.27 (n)
mouse
(Mus musculus)
Mammalia Mcoln2 34 16 35
  • 82.52 (n)
oppossum
(Monodelphis domestica)
Mammalia MCOLN2 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves MCOLN2 34 35
  • 75.34 (n)
lizard
(Anolis carolinensis)
Reptilia MCOLN2 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mcoln2 34
  • 71.26 (n)
Str.20445 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.1707 34
zebrafish
(Danio rerio)
Actinopterygii mcoln2 34
  • 63.4 (n)
MCOLN2 35
  • 51 (a)
OneToOne
zgc55310 34
fruit fly
(Drosophila melanogaster)
Insecta CG42638 35
  • 32 (a)
ManyToMany
trpml 35
  • 32 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea cup-5 35
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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 Sequence Context AA Info Type
rs10082244 -- 84,935,252(+) ACTGA(C/T)GTTCT intron-variant, nc-transcript-variant
rs1030932 -- 84,941,565(+) AAATT(C/T)ATATA intron-variant
rs1030933 -- 84,941,966(+) AGCCC(A/G)GCTCt intron-variant
rs10522423 -- 84,996,394(+) ATTTC(-/ATATATATATATATATATATATATAT)ATATA intron-variant
rs10582028 -- 84,934,575(+) TAATG(-/CA)GAGTC intron-variant, nc-transcript-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)

Relevant External Links 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

Relevant External Links for MCOLN2

Genetic Association Database (GAD)
MCOLN2
Human Genome Epidemiology (HuGE) Navigator
MCOLN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MCOLN2

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 S.A. (J. Cell. Physiol. 2010) 3 22 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels. (PMID: 16382100) Clapham D.E. … Schultz G. (Pharmacol. Rev. 2005) 2 3 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice. (PMID: 12403827) Di Palma F. … Noben-Trauth K. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 4 64

Products for MCOLN2 Gene

Sources for MCOLN2 Gene

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