GeneID = 653437 is in our transporter list.
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  • Gene general annotation
  • Data comes from NCBI-Gene
    Entrez GeneID 653437
    Gene Symbol AQP12B
    Aliases INSSA3,MGC149473
    Description aquaporin 12B
    Organism Homo sapiens
    Location 2q37.3
    Genomic position NC_000002.11 241615834-241622316 minus strand (Reference GRCh37.p5 Primary Assembly) U E
    UniProt Accession Q8IUS6
    Mammalian Homolog
    (GeneID)
    mouse : 208760
    rat : 367316
  • 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
    rs62187796 2 241621866 1KG T (minor)247 in 2178 = 0.11341 heterozygosity = 0.20109, with SE = 0.24517 exonic: AQP12B

    nonsynonymous SNV: AQP12B, NM_001102467, exon1, c.G389A, p.R130H

    SIFT score = 0.10
    rs4676387 2 241622069 1KG A (minor)145 in 2178 = 0.06657 heterozygosity = 0.12429, with SE = 0.21609 exonic: AQP12B

    synonymous SNV: AQP12B, NM_001102467, exon1, c.C186T, p.P62P
    rs4081909 2 241622187 1KG T (minor)402 in 2178 = 0.18457 heterozygosity = 0.30101, with SE = 0.24474 exonic: AQP12B

    nonsynonymous SNV: AQP12B, NM_001102467, exon1, c.G68A, p.R23Q

    SIFT score = 0.24
    rs4081908 2 241622209 1KG T (minor)810 in 2178 = 0.37190 heterozygosity = 0.46718, with SE = 0.12382 exonic: AQP12B

    synonymous SNV: AQP12B, NM_001102467, exon1, c.A46A, p.T16T
    rs3889031 2 241622969 1KG T (minor)21 in 2178 = 0.00964 heterozygosity = 0.01910, with SE = 0.09583 upstream: AQP12B
    Limited to 5 records in this page. Click here to view more.
  • Genomic Variation --- CNV
  • Data comes from DGV
    Variation IDPositionVar. TypeGainLossTotal GL InvPubMed
    Variation_29706 chr2:241586195-241626057 U E CopyNumber 1 0 1 18288195
    Variation_37220 chr2:241582484-241628671 U E Inversion 0 0 0 18451855
  • 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
  • Data comes from UCSC and ENCODE
    ChrStartEndTF nameScoreCell typesSNPs (rsIDs)
  • 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 653437
    Gene Symbol and
    Genome Browser
    AQP12B
    UCSC Ensembl
    mRNA NM_001102467
    protein NP_001095937
    Ensembl ENSG00000185176
    UniProt Accession Q8IUS6
    UniGene Hs.437167
    HomoloGene 45582
    EMBL BC041460
    IPI IPI00216841
    STRING Q8IUS6
    PharmGKB PA29902