GeneID = 375318 is in our transporter list.
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  • Gene general annotation
  • Data comes from NCBI-Gene
    Entrez GeneID 375318
    Gene Symbol AQP12A
    Aliases AQP-12,AQP12,AQPX2
    Description aquaporin 12A
    Organism Homo sapiens
    Location 2q37.3
    Genomic position NC_000002.11 241631261-241637899 plus strand (Reference GRCh37.p5 Primary Assembly) U E
    UniProt Accession Q8IXF9
    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
  • Data comes from (unpublished integrated data)
    KEGG Compound ID:
    C00001
  • 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
    rs4989708 2 241631131 CEU G / A 130 / 0 max diff AF = 0.000 G/G / A/G / A/A 65 / 0 / 0 upstream: AQP12A
    1KG heterozygosity = 0.00000, with SE = 0.00000
    rs71428453 2 241631267 1KG G (minor)484 in 2178 = 0.22222 heterozygosity = 0.34568, with SE = 0.23097 UTR5: AQP12A

    SIFT score = 1.00
    rs4328629 2 241631476 1KG C (minor)856 in 2178 = 0.39302 heterozygosity = 0.47711, with SE = 0.10450 intronic: AQP12A
    rs11889147 2 241631616 1KG C (minor)166 in 2178 = 0.07622 heterozygosity = 0.14082, with SE = 0.22490 exonic: AQP12A

    synonymous SNV: AQP12A, NM_198998, exon2, c.T249C, p.T83T
    rs4343462 2 241631668 1KG C (minor)81 in 2178 = 0.03719 heterozygosity = 0.07161, with SE = 0.17515 exonic: AQP12A

    synonymous SNV: AQP12A, NM_198998, exon2, c.T301C, p.L101L
    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_29707 chr2:241623893-241683908 U E CopyNumber 1 0 1 18288195
    Variation_30112 chr2:241623893-241840711 U E CopyNumber 0 1 1 18288195
    Variation_37221 chr2:241624953-241668495 U E Inversion 0 0 0 18451855
    Variation_50437 chr2:241623894-241676776 U E CopyNumber 2 0 2 19592680
    Variation_12136 chr2:241633249-241633435 U E InDel 0 1 1 16902084
  • 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 375318
    Gene Symbol and
    Genome Browser
    AQP12A
    UCSC Ensembl
    mRNA NM_198998
    protein NP_945349
    Ensembl ENST00000337801; ENSP00000337144; ENSG00000184945
    HPRD 16504
    UniProt Accession Q8IXF9
    GeneCards GC02P241632
    UniGene Hs.534650
    HomoloGene 45582
    EMBL AB040748
    IPI IPI00478533
    PRIDE Q8IXF9
    STRING Q8IXF9
    OMIM 609789
    PharmGKB PA134977417