GeneID = 55283 is in our transporter list.
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  • Gene general annotation
  • Data comes from NCBI-Gene
    Entrez GeneID 55283
    Gene Symbol MCOLN3
    Aliases FLJ11006,FLJ36629,MGC71509,TRP-ML3,TRPML3
    Description mucolipin 3
    Organism Homo sapiens
    Location 1p22.3
    Genomic position NC_000001.10 85483764-85514168 minus strand (Reference GRCh37.p5 Primary Assembly) U E
    UniProt Accession Q8TDD5
    Mammalian Homolog
    (GeneID)
    mouse : 171166
    rat : 308022
  • KOBAS Annotation (Pathway/Disease Annotation)
  • PharmacoGenetics Related Genes/Drugs/Diseases
  • TaxicoGenetics Related Chemicals/Diseases/Pathways
  • Known Drugs in DrugBank
  • Transporter Substrate Information
  • Genomic Variation --- SNP
  • Data is integrated from dbSNP and HapMap, with functionally annotated by ANNOVAR
    Note: heterozygosity is not actually estimated from 1KG data, but is put in the same line for more compact representation.
    dbSNP rsIDchrpositionpop.alleleallele countfrequencyHapMap pop. diff.genotypegenotype count (frequency) functional annotation
    rs1129722 1 85484051 1KG A (minor)96 in 2178 = 0.04408 heterozygosity = 0.08427, with SE = 0.18717 UTR3: MCOLN3
    rs2028304 1 85488030 ASW A / G 91 / 23 FET lg p = -2.64

    max diff AF = 0.134
    A/A / A/G / G/G 37 / 17 / 3 exonic: MCOLN3

    synonymous SNV: MCOLN3, NM_001253693, exon9, c.C981C, p.L327L; MCOLN3, NM_018298, exon10, c.C1149C, p.L383L
    CEU 194 / 32 84 / 26 / 3
    CHB 211 / 63 81 / 49 / 7
    CHD 159 / 59 57 / 45 / 7
    GIH 155 / 47 62 / 31 / 8
    JPT 164 / 62 62 / 40 / 11
    LWK 174 / 46 65 / 44 / 1
    MEX 84 / 32 29 / 26 / 3
    MKK 253 / 59 101 / 51 / 4
    TSI 173 / 31 76 / 21 / 5
    YRI 240 / 54 98 / 44 / 5
    1KG G (minor)456 in 2178 = 0.20937 heterozygosity = 0.33106, with SE = 0.23649
    rs2039814 1 85488154 CEU C / G 130 / 0 FET lg p = -12.36

    max diff AF = 0.206
    C/C / C/G / G/G 65 / 0 / 0 intronic: MCOLN3
    CHB 90 / 0 45 / 0 / 0
    JPT 88 / 0 44 / 0 / 0
    YRI 100 / 26 39 / 22 / 2
    1KG G (minor)107 in 2178 = 0.04913 heterozygosity = 0.09343, with SE = 0.19490
    rs1458401 1 85507854 1KG C (minor)107 in 2178 = 0.04913 heterozygosity = 0.09343, with SE = 0.19490 intronic: MCOLN3
    rs893618 1 85513770 1KG T (minor)368 in 2178 = 0.16896 heterozygosity = 0.28083, with SE = 0.24809 intronic: MCOLN3
    Limited to 5 records in this page. Click here to view more.
  • Genomic Variation --- CNV
  • Haplotype Information
  • Data links to UCSC Genome Browser
    ContentHyperlinkDemo example
    HapMap LD Structure (hg18)UCSC
    1000 Genomes Phase I Haplotype Clustering (hg19)UCSC
    Gene Haplotype Allele (hg19)UCSC
  • ENCODE TFBS (Transcription Factor Binding Sites) Information
  • Epigenetic Information
  • Gene Ontology (GO)
  • Protein Sequence & Features
  • Protein Domain Information
  • Protein-Protein Interaction
  • UniGene EST Expression Data
  • Allen Brain Atlas - Mouse Brain Expression Data
  • RNA-seq Expression Data
  • External Links
  • EntrezGeneID 55283
    Gene Symbol and
    Genome Browser
    MCOLN3
    UCSC Ensembl
    mRNA NM_001253693; NM_018298
    protein NP_001240622; NP_060768
    Ensembl ENST00000302814; ENSP00000304843; ENSG00000055732; ENST00000370589; ENSP00000359621; ENSG00000055732
    HPRD 09585
    UniProt Accession Q8TDD5
    GeneCards GC01M085483
    UniGene Hs.535239
    HomoloGene 10118
    EMBL AF475085; AK001868; AL358789; AL358789
    IPI IPI00442997; IPI00442999
    PRIDE Q8TDD5
    STRING Q8TDD5
    OMIM 607400
    PharmGKB PA134947324