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Aliases for MCOLN2 Gene

Aliases for MCOLN2 Gene

  • Mucolipin 2 2 3 5
  • 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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. An important paralog of this gene is MCOLN1.

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

Promoters for MCOLN2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MCOLN2 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for MCOLN2 Gene at MOPED

Post-translational modifications for MCOLN2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MCOLN2 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

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

Animal Model Products

  • Taconic Biosciences Mouse Models for MCOLN2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for MCOLN2 Gene COMPARTMENTS Subcellular localization image for MCOLN2 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 4
cytosol 2
endosome 2
lysosome 2
nucleus 2
vacuole 2
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for MCOLN2 Gene

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

Gene Ontology (GO) - Biological Process for MCOLN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034220 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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Gadolinium chloride
10138-52-0
MK6-83
1062271-24-2
ML SA1
332382-54-4
SN 2
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:

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 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



SOURCE GeneReport for Unigene cluster for MCOLN2 Gene Hs.591446

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

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia MCOLN2 35
  • 89.1 (n)
  • 87.36 (a)
MCOLN2 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MCOLN2 35
  • 90.95 (n)
  • 91.82 (a)
mouse
(Mus musculus)
Mammalia Mcoln2 35
  • 82.52 (n)
  • 82.58 (a)
Mcoln2 16
Mcoln2 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MCOLN2 35
  • 99.65 (n)
  • 99.47 (a)
MCOLN2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mcoln2 35
  • 83.27 (n)
  • 83.15 (a)
oppossum
(Monodelphis domestica)
Mammalia MCOLN2 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MCOLN2 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves MCOLN2 35
  • 75.34 (n)
  • 76.01 (a)
MCOLN2 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MCOLN2 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mcoln2 35
  • 71.26 (n)
  • 70.76 (a)
Str.20445 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.1707 35
zebrafish
(Danio rerio)
Actinopterygii mcoln2 35
  • 63.4 (n)
  • 60.07 (a)
zgc55310 35
MCOLN2 36
  • 51 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42638 36
  • 32 (a)
ManyToMany
trpml 36
  • 32 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea cup-5 36
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToMany
Species with no ortholog for MCOLN2:
  • 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
rs17117841 - 84,939,570(+) TTCCA(C/T)TTTTA intron-variant, reference, missense
rs6704203 - 84,939,555(+) CACCT(G/T)TGCTT intron-variant, reference, missense
rs488710 -- 84,973,771(-) gtgag(A/G)ggatg intron-variant
rs498429 -- 84,957,858(+) caatg(A/T)ctgga intron-variant
rs507465 -- 84,953,993(+) GGAAA(A/G)CTCAC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv830448 CNV Loss 17160897
nsv470724 CNV Gain 18288195
nsv462383 CNV Gain 19166990
esv267474 CNV Insertion 20981092

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

HapMap Linkage Disequilibrium report
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. 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 48 67
  2. Functional multimerization of mucolipin channel proteins. (PMID: 19885840) Curcio-Morelli C. … Slaugenhaupt S.A. (J. Cell. Physiol. 2010) 3 23
  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
  4. PAX5 is the transcriptional activator of mucolipin-2 (MCOLN2) gene. (PMID: 25445271) Valadez J.A. … Cuajungco M.P. (Gene 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for MCOLN2 Gene

Sources for MCOLN2 Gene

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