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    AQP5-AS1 AQP5 and AQP2 antisense RNA 2 [ Homo sapiens (human) ]

    Gene ID: 101927318, updated on 17-Sep-2024

    Summary

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    Official Symbol
    AQP5-AS1provided by HGNC
    Official Full Name
    AQP5 and AQP2 antisense RNA 2provided by HGNC
    Primary source
    HGNC:HGNC:55474
    See related
    Ensembl:ENSG00000257588 AllianceGenome:HGNC:55474
    Gene type
    ncRNA
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MIAC
    Expression
    Restricted expression toward kidney (RPKM 57.0) See more
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    Genomic context

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    See AQP5-AS1 in Genome Data Viewer
    Location:
    12q13.12
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (49951512..49962924, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (49914503..49925913, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (50345295..50356707, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2395 Neighboring gene uncharacterized LOC124902930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:50335615-50336600 Neighboring gene uncharacterized LOC105369763 Neighboring gene NANOG-H3K4me1 hESC enhancers GRCh37_chr12:50338782-50339658 and GRCh37_chr12:50339659-50340534 Neighboring gene aquaporin 2 Neighboring gene uncharacterized LOC105369764 Neighboring gene Sharpr-MPRA regulatory region 13914 Neighboring gene aquaporin 5 Neighboring gene aquaporin 6 Neighboring gene Rac GTPase activating protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6338 Neighboring gene Sharpr-MPRA regulatory region 11175

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Micropeptide MIAC inhibits the tumor progression by interacting with AQP2 and inhibiting EREG/EGFR signaling in renal cell carcinoma. Li M, et al. Mol Cancer, 2022 Sep 19. PMID 36117171, Free PMC Article
    2. Micropeptide MIAC Inhibits HNSCC Progression by Interacting with Aquaporin 2. Li M, et al. J Am Chem Soc, 2020 Apr 8. PMID 32176498
    3. Transcriptome analysis of human gastric cancer. Oh JH, et al. Mamm Genome, 2005 Dec. PMID 16341674
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    5. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Other Names

    • micropeptide inhibiting actin cytoskeleton

    Clone Names

    • AC025154.2

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin filament organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of epidermal growth factor receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    RNA

    1. NR_110589.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two exons and includes a distinct 3' terminal exon compared to variant 1.
      Source sequence(s)
      BM931698

    2. NR_110590.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. This variant may be partial at the 3' end.
      Source sequence(s)
      BM839521, DB200798
      Related
      ENST00000552379.1

    3. NR_110591.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks one alternate exon and includes one alternate exon compared to variant 1. This variant may be partial at the 3' end.
      Source sequence(s)
      AC025154
      Related
      ENST00000550530.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      49951512..49962924 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      49914503..49925913 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A7L8Y648.1 GenPept UniProtKB/Swiss-Prot:A0A7L8Y648

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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    Research Materials