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

Gene ID: 149775, updated on 13-May-2022

Summary

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

See GNAS-AS1 in Genome Data Viewer
Location:
20q13.32
Exon count:
5
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (58818918..58850903, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (60601516..60634022, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (57393973..57425958, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene microRNA 296 Neighboring gene microRNA 298 Neighboring gene GNAS complex locus Neighboring gene uncharacterized LOC101927932 Neighboring gene uncharacterized LOC107985382 Neighboring gene small integral membrane protein 30-like

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Pseudohypoparathyroidism type 1B
MedGen: C1864100 OMIM: 603233 GeneReviews: Disorders of GNAS Inactivation
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EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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_002785.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AJ251759, BF589977, DB067618
    Related
    ENST00000424094.6

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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..58850903 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    60601516..60634022 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)