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] See more...

Aliases for GNAS-AS1 Gene

Subcategory (RNA class) for GNAS-AS1 Gene

lncRNA

Number of RNA Genes sources:

3 / 14

Aliases for GNAS-AS1 Gene

  • GNAS Antisense RNA 1 2 3 5
  • GNAS Antisense RNA 1 (Non-Protein Coding) 2 3
  • GNAS-AS1 2 168
  • GNAS Antisense RNA (Non-Protein Coding) 2
  • Non-Protein Coding RNA 75 2
  • GNAS1 Antisense 3
  • GNAS Antisense 2
  • NONHSAG032157 92
  • HSALNG0131285 167
  • Lnc-CTSZ-12 168
  • NCRNA00075 3
  • GNAS1AS 3
  • NESP-AS 3
  • GNAS-AS 3
  • NESPAS 3
  • GNASAS 3
  • SANG 3

External Ids for GNAS-AS1 Gene

Previous HGNC Symbols for GNAS-AS1 Gene

  • GNASAS
  • GNAS-AS

Previous GeneCards Identifiers for GNAS-AS1 Gene

  • GC20M057395
  • GC20M057397
  • GC20M057400
  • GC20M057403
  • GC20M058819
  • GC20M058820
  • GC20M058835
  • GC20M058838
  • GC20M058840
  • GC20M058822
  • GC20M058824
  • GC20M058825
  • GC20M058826
  • GC20M058828
  • GC20M058830
  • GC20M058832

Summaries for GNAS-AS1 Gene

Entrez Gene Summary for GNAS-AS1 Gene

  • 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]

GeneCards Summary for GNAS-AS1 Gene

GNAS-AS1 (GNAS Antisense RNA 1) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with GNAS-AS1 include Pseudohypoparathyroidism, Type Ib and Transient Neonatal Diabetes Mellitus.

Gene Wiki entry for GNAS-AS1 Gene

Rfam classification for GNAS-AS1 Gene

  • GNAS antisense RNA 1 conserved region 5
  • GNAS antisense RNA 1 conserved region 4
  • GNAS antisense RNA 1 conserved region 3
  • GNAS antisense RNA 1 conserved region 2
  • GNAS antisense RNA 1 conserved region 1
  • microRNA mir-296
  • microRNA mir-298

Additional gene information for GNAS-AS1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary and piRNA Summary for GNAS-AS1 Gene

Genomics for GNAS-AS1 Gene

GeneHancer (GH) Regulatory Elements for GNAS-AS1 Gene

Promoters and enhancers for GNAS-AS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J058875 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.4 -26.8 -26798 5 JUND FOS ZNF740 MXI1 GATA3 NANOG ZNF592 NFE2 FOSL1 ZNF395 ENSG00000270951 NELFCD GNAS-AS1 GNAS LOC101927932 ENSG00000225806
GH20J058645 Enhancer 1 Ensembl ENCODE dbSUPER 11 +205.2 205202 1.4 JUND SKI NR2F2 FOS NR3C1 SMAD4 FOSL2 GATA2 RARA HMG20A NPEPL1 GNAS GNAS-AS1 lnc-APCDD1L-3-001 LINC01711
GH20J058640 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.2 +210.1 210124 0.8 ESRRA MYC ZNF316 MAX NFE2 FOSL1 E2F6 MAFK MNT MAFG NPEPL1 GNAS GNAS-AS1 LINC01711 lnc-APCDD1L-3-001
GH20J058881 Enhancer 1 ENCODE CraniofacialAtlas dbSUPER 10.4 -31.9 -31880 2.9 CTCF ZIC2 MYC POLR2A HES1 MAX E2F6 CBX2 ATF4 ZNF175 NELFCD GNAS-AS1 GNAS ENSG00000270951 ENSG00000225806 LOC101927932
GH20J058479 Enhancer 1 Ensembl ENCODE 10.3 +369.9 369886 3.2 ZNF217 CTCF REST CHD1 RAD21 SMC3 HCFC1 SIN3A ESRRA MYC APCDD1L APCDD1L-DT GNAS GNAS-AS1 ANKRD60 VAPB lnc-ANKRD60-5 piR-60146-097
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GNAS-AS1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for GNAS-AS1 Gene

Genomic Locations for GNAS-AS1 Gene
chr20:58,818,793-58,850,903
(GRCh38/hg38)
Size:
32,111 bases
Orientation:
Minus strand
chr20:57,393,973-57,425,958
(GRCh37/hg19)
Size:
31,986 bases
Orientation:
Minus strand

Genomic View for GNAS-AS1 Gene

Genes around GNAS-AS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNAS-AS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GNAS-AS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GNAS-AS1 Gene

Proteins for GNAS-AS1 Gene

Post-translational modifications for GNAS-AS1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for GNAS-AS1 Gene

Domains & Families for GNAS-AS1 Gene

Gene Families for GNAS-AS1 Gene

genes like me logo Genes that share domains with GNAS-AS1: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for GNAS-AS1 Gene

Function for GNAS-AS1 Gene

Phenotypes From GWAS Catalog for GNAS-AS1 Gene

Human Phenotype Ontology for GNAS-AS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for GNAS-AS1 Gene

Localization for GNAS-AS1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GNAS-AS1 gene
Compartment Confidence
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
cytosol 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for GNAS-AS1 Gene

Pathways & Interactions for GNAS-AS1 Gene

PathCards logo

SuperPathways for GNAS-AS1 Gene

No Data Available
;

Gene Ontology (GO) - Biological Process for GNAS-AS1 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for GNAS-AS1 Gene

Drugs & Compounds for GNAS-AS1 Gene

No Compound Related Data Available

Transcripts for GNAS-AS1 Gene

mRNA/cDNA for GNAS-AS1 Gene

16 RNACentral transcripts :
1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
8 NONCODE transcripts :
7 LncBook transcripts :
16 LNCipedia transcripts :

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for GNAS-AS1 Gene

No ASD Table

Relevant External Links for GNAS-AS1 Gene

GeneLoc Exon Structure for
GNAS-AS1

Expression for GNAS-AS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GNAS-AS1 Gene

mRNA differential expression in normal tissues according to GTEx for GNAS-AS1 Gene

This gene is overexpressed in Pituitary (x15.2), Brain - Hypothalamus (x14.0), Minor Salivary Gland (x8.6), and Pancreas (x5.0).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GNAS-AS1

SOURCE GeneReport for Unigene cluster for GNAS-AS1 Gene:

Hs.122718

Phenotype-based relationships between genes and organs from Gene ORGANizer for GNAS-AS1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • larynx
  • neck
  • parathyroid
  • thyroid
Thorax:
  • heart
Abdomen:
  • kidney
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with GNAS-AS1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for GNAS-AS1 Gene

Orthologs for GNAS-AS1 Gene

Evolution for GNAS-AS1 Gene

ENSEMBL:
Gene Tree for GNAS-AS1 (if available)
TreeFam:
Gene Tree for GNAS-AS1 (if available)

No data available for Orthologs for GNAS-AS1 Gene

Paralogs for GNAS-AS1 Gene

No data available for Paralogs for GNAS-AS1 Gene

Variants for GNAS-AS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GNAS-AS1 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs1131691907 Uncertain Significance: not provided 58,840,473(-) A/G
rs144308406 Uncertain Significance: not specified 58,840,116(-) A/G MISSENSE_VARIANT
rs1555868362 Pathogenic: Inborn genetic diseases 58,840,368(-) C/CA FRAMESHIFT_VARIANT
rs1568906610 Likely Pathogenic: not provided 58,840,109(-) G/A INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT
rs587778387 Not Provided: not specified 58,840,450(-) CCGAGTCCGAAAT/C INFRAME_DELETION

Additional dbSNP identifiers (rs#s) for GNAS-AS1 Gene

Structural Variations from Database of Genomic Variants (DGV) for GNAS-AS1 Gene

Variant ID Type Subtype PubMed ID
esv1197292 CNV insertion 17803354
esv2461600 CNV insertion 19546169
nsv459031 CNV loss 19166990
nsv474420 CNV novel sequence insertion 20440878
nsv586352 CNV loss 21841781
nsv828763 CNV loss 20364138
nsv955142 CNV deletion 24416366

Additional Variant Information for GNAS-AS1 Gene

Human Gene Mutation Database (HGMD)
GNAS-AS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GNAS-AS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for GNAS-AS1 Gene

Disorders for GNAS-AS1 Gene

MalaCards: The human disease database

(18) MalaCards diseases for GNAS-AS1 Gene - From: LncRNADisease, OMIM, ClinVar, GTR, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GNAS-AS1

genes like me logo Genes that share disorders with GNAS-AS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GNAS-AS1 Gene

Publications for GNAS-AS1 Gene

  1. An imprinted antisense transcript at the human GNAS1 locus. (PMID: 10749992) Hayward BE … Bonthron DT (Human molecular genetics 2000) 2 3 54
  2. Disorders of GNAS Inactivation (PMID: 29072892) Haldeman-Englert CR … Levine MA (GeneReviews® 2017) 3 54
  3. Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57. (PMID: 27075368) Bak M … Tommerup N (BMC medical genetics 2016) 3 54
  4. Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects. (PMID: 26819647) Rochtus A … Freson K (Clinical epigenetics 2016) 3 54
  5. Expression of imprinted genes in placenta is associated with infant neurobehavioral development. (PMID: 26198301) Green BB … Marsit CJ (Epigenetics 2015) 3 54

Products for GNAS-AS1 Gene

Sources for GNAS-AS1 Gene