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Gene

GNAS

GNAS complex locus

Summary

Cytogenetic location
20q13.32
Coordinates
Chromosome 20: 58,891,421–58,911,192 (GRCh38)
Exons
13 exons across 19.8 kb
Protein
394 amino acids
Inheritance
Autosomal dominant
Also known as
NESP55, NESP, GNASXL, GPSA, SCG6, SgVI
Previous symbols
GNAS1
MANE Select transcript
ENST00000371085.8NM_000516.7
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Fibrodysplasia Ossificans Progressiva

    • Progressive osseous heteroplasiaAutosomal dominant

      A GNAS disorder in which bone forms in the skin and then in deeper tissues, starting in childhood.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Diagnosis helps avoid unnecessary surgery and guides specialist follow-up.

  • Pseudohypoparathyroidism & GNAS-Inactivation Disorders

    • PseudohypoparathyroidismAutosomal dominant

      Resistance to parathyroid hormone, and often to TSH and other hormones, causing low calcium and high phosphate, with or without Albright hereditary osteodystrophy.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Calcitriol, calcium and, where needed, levothyroxine or growth hormone treat the hormone resistance.

    • Disorder of GNAS inactivationAutosomal dominant

      Conditions caused by loss of GNAS function, including pseudopseudohypoparathyroidism and progressive osseous heteroplasia; which form develops depends on which parent the variant came from.

      • 5 GenCC submitters rate it definitive or strong

  • Thyroid Cancer

    • Parathyroid Gland Disorder

      A disease involving the parathyroid gland.

      • 4 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How GNAS is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 20, with a bracket where GNAS sits. GNAS and 12 genes near it on chromosome 20, from 58,401,307 to 59,401,306.Chromosome 2020q13.32p13p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12q13.11q13.12q13.13q13.2q13.31q13.32q13.3358.6 Mb58.8 Mb59 Mb59.2 Mb59.4 MbVAPB: 58,389,114–58,451,101, forward strandVAPBAPCDD1L: 58,457,632–58,515,399, reverse strandAPCDD1LSTX16: 58,650,262–58,679,526, forward strandSTX16STX16-NPEPL1: 58,651,434–58,715,410, forward strandSTX16-NPEPL1NPEPL1: 58,689,125–58,719,238, forward strandNPEPL1GNAS: 58,891,421–58,911,192, forward strandGNASNELFCD: 58,981,203–58,997,184, forward strandNELFCDCTSZ: 58,985,686–59,008,238, reverse strandCTSZTUBB1: 59,019,379–59,026,654, forward strandTUBB1ATP5F1E: 59,025,475–59,032,363, reverse strandATP5F1EPRELID3B: 59,033,092–59,042,897, reverse strandZNF831: 59,123,381–59,259,113, forward strandZNF831EDN3: 59,300,213–59,325,992, forward strandEDN3Diagram of GNAS: 13 exons on the forward strand of chromosome 20Exon 1: 11 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 3: 1 known disease-causing siteExon 4: 6 known disease-causing sitesExon 5: 6 known disease-causing sitesExon 6: 13 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 8: 5 known disease-causing sitesExon 9: 5 known disease-causing sitesExon 10: 7 known disease-causing sitesExon 11: 6 known disease-causing sitesExon 12: 3 known disease-causing sitesExon 13: 11 known disease-causing sitesExon 1: 58,891,421–58,891,865, 445 basesExon 2: 58,895,612–58,895,684, 73 basesExon 3: 58,898,941–58,898,985, 45 basesExon 4: 58,903,531–58,903,585, 55 basesExon 5: 58,903,672–58,903,791, 120 basesExon 6: 58,905,383–58,905,480, 98 basesExon 7: 58,909,162–58,909,216, 55 basesExon 8: 58,909,350–58,909,423, 74 basesExon 9: 58,909,521–58,909,579, 59 basesExon 10: 58,909,684–58,909,804, 121 basesExon 11: 58,909,951–58,910,081, 131 basesExon 12: 58,910,334–58,910,401, 68 basesExon 13: 58,910,683–58,911,192, 510 bases1510135′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 1.9 kb of the gene's 19.8 kb; 1,185 of those bases code for the protein.

How a genome test reads GNAS

93

positions in GNAS where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 19.8 kb of GNAS, introns included, not only the 1.9 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). GNAS gene: GNAS complex locus. Retrieved 17 October 2026, from https://dantelabs.com/genes/gnas

Vancouver

Dante Labs. GNAS gene: GNAS complex locus [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gnas

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