GAS5

Chr 1

growth arrest specific 5

Also known as: NCRNA00030, SNHG2

The GAS5 gene produces a long non-coding RNA that acts as a decoy glucocorticoid response element, binding to and inhibiting the glucocorticoid receptor to prevent transcriptional activation of target genes, and also regulates other steroid hormone receptors while promoting growth arrest and apoptosis. Mutations cause growth hormone insensitivity with immunodeficiency, typically presenting in early childhood with severe growth failure and recurrent infections. Inheritance follows an autosomal dominant pattern.

ResearchSummary from RefSeq

This gene produces a spliced long non-coding RNA and is a member of the 5' terminal oligo-pyrimidine class of genes. It is a small nucleolar RNA host gene, containing multiple C/D box snoRNA genes in its introns. Part of the secondary RNA structure of the encoded transcript mimics glucocorticoid response element (GRE) which means it can bind to the DNA binding domain of the glucocorticoid receptor (nuclear receptor subfamily 3, group C, member 1). This action blocks the glucocorticoid receptor from being activated and thereby stops it from regulating the transcription of its target genes. This transcript is also thought to regulate the transcriptional activity of other receptors, such as androgen, progesterone and mineralocorticoid receptors, that can bind to its GRE mimic region. Multiple functions have been associated with this transcript, including cellular growth arrest and apoptosis. It has also been identified as a potential tumor suppressor, with its down-regulation associated with cancer in multiple different tissues. [provided by RefSeq, Mar 2015]

ResearchGenerating clinical summary…

Clinical Summary— GAS5

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ClinVar Variants

22 total variants — no pathogenic classifications of 22 total submissions

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Clinical Trials

1 active or recruiting trial — potential therapeutic options may be available

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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

22 submitted variants in ClinVar

ClinVar

Classification Summary

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

Classification	LoF	Missense + Inframe	Non-coding	Synonymous
Pathogenic	—	—	—	—
Likely Pathogenic	—	—	—	—
VUS	—	—	—	—
Likely Benign	—	—	—	—
Benign	—	—	—	—
Total	—

Counts from ClinVar esearch · Updated hourly

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38 pathogenic / likely-pathogenic (of 46) ClinVar copy-number / structural variants overlap GAS5 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →