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    GNAS-AS1 GNAS antisense RNA 1 [ Homo sapiens (human) ]

    Gene ID: 149775, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GNAS-AS1provided by HGNC
    Official Full Name
    GNAS antisense RNA 1provided by HGNC
    Primary source
    HGNC:HGNC:24872
    See related
    Ensembl:ENSG00000235590 MIM:610540; AllianceGenome:HGNC:24872
    Gene type
    ncRNA
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SANG; GNASAS; NESPAS; GNAS-AS; GNAS1AS; NESP-AS; NCRNA00075
    Summary
    This gene produces a paternally-imprinted antisense RNA transcript that helps regulate the GNAS complex locus, which encodes the alpha subunit of the stimulatory G protein. Defects in this gene are a cause of pseudohypoparathyroidism type Ib.[provided by RefSeq, Jun 2010]
    Expression
    Low expression observed in reference dataset See more
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    Genomic context

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    See GNAS-AS1 in Genome Data Viewer
    Location:
    20q13.32
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (58818918..58850902, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (60601516..60634021, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (57393973..57425957, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene microRNA 296 Neighboring gene microRNA 298 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18178 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:57429646-57430522 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:57430523-57431398 Neighboring gene GNAS complex locus Neighboring gene uncharacterized LOC101927932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18179 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13080 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13081 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13082 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13083 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13084 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr20:57470438-57471032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:57471033-57471626 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:57474225-57474776 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18180 Neighboring gene uncharacterized LOC107985382 Neighboring gene small integral membrane protein 30-like

    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
    • 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. Recurrent Small Variants in NESP55/NESPAS Associated with Broad GNAS Methylation Defects and Pseudohypoparathyroidism Type 1b. Li D, et al. JCI Insight, 2024 Nov 14. PMID 39541438
    2. The lncRNA, Nespas, Is Associated with Osteoarthritis Progression and Serves as a Potential New Prognostic Biomarker. Park S, et al. Cartilage, 2019 Apr. PMID 28805067, Free PMC Article
    3. Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects. Rochtus A, et al. Clin Epigenetics, 2016. PMID 26819647, Free PMC Article
    4. STAT3-induced lncRNA GNAS-AS1 accelerates keloid formation by mediating the miR-196a-5p/CXCL12/STAT3 axis in a feedback loop. Liu Y, et al. Exp Dermatol, 2024 Jun. PMID 38840411
    5. Methylation and transcripts expression at the imprinted GNAS locus in human embryonic and induced pluripotent stem cells and their derivatives. Grybek V, et al. Stem Cell Reports, 2014 Sep 9. PMID 25241742, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. STAT3-induced lncRNA GNAS-AS1 accelerates keloid formation by mediating the miR-196a-5p/CXCL12/STAT3 axis in a feedback loop.
      Title: STAT3-induced lncRNA GNAS-AS1 accelerates keloid formation by mediating the miR-196a-5p/CXCL12/STAT3 axis in a feedback loop.
    2. LncRNA GNAS-AS1 facilitates ER+ breast cancer cells progression by promoting M2 macrophage polarization via regulating miR-433-3p/GATA3 axis.
      Title: LncRNA GNAS-AS1 facilitates ER+ breast cancer cells progression by promoting M2 macrophage polarization via regulating miR-433-3p/GATA3 axis.
    3. GNAS-AS1/miR-4319/NECAB3 axis promotes tumor progression of non-small cell lung cancer by altering macrophage polarization.
      Title: GNAS-AS1/miR-4319/NECAB3 axis promotes migration and invasion of non-small cell lung cancer cells by altering macrophage polarization.
    4. We suggest that elevated Nespas level in osteoarthritis are associated with osteoarthritis pathogenesis by suppressing miRs targeting ACSL6 and subsequent ACSL6 upregulation.
      Title: The lncRNA, Nespas, Is Associated with Osteoarthritis Progression and Serves as a Potential New Prognostic Biomarker.
    5. GNASAS gene encodes an antisense GNAS transcript that is expressed only from the paternal allele.
      Title: An imprinted antisense transcript at the human GNAS1 locus.
    6. Data show that of IL10, LEP, ABCA1, GNASAS and MEG3 was higher among individuals who were periconceptionally exposed to the famine compared with their unexposed same-sex siblings.
      Title: DNA methylation differences after exposure to prenatal famine are common and timing- and sex-specific.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Pseudohypoparathyroidism type 1B
    MedGen: C1864100 OMIM: 603233 GeneReviews: Disorders of GNAS Inactivation
    		Compare labs

    EBI GWAS Catalog

    Description
    GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Other Names

    • GNAS antisense RNA 1 (non-protein coding)
    • GNAS1 antisense

    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.

    Genomic

    1. NG_021433.1 RefSeqGene

      Range
      5001..36986
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1051

    RNA

    1. NR_002785.3 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL132655
      Related
      ENST00000424094.6

    2. NR_185847.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL132655
      Related
      ENST00000718285.1

    3. NR_185848.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL132655

    4. NR_185849.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL132655
      Related
      ENST00000716945.1

    5. NR_190183.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL132655
      Related
      ENST00000691748.1

    6. NR_190184.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL132655
      Related
      ENST00000685926.2

    7. NR_190185.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL132655

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      58818918..58850902 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      60601516..60634021 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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