VGLL2

Chr 6

vestigial like family member 2

Also known as: VGL2, VITO1

NCBI Gene: 245806 ENSG00000170162 UniProt: Q8N8G2

This gene encodes a transcriptional coactivator that specifically enhances TEF-1 regulated gene expression during skeletal muscle development. The gene shows significant constraint against loss-of-function variants (LOEUF 0.57), suggesting that mutations are likely to cause disease, though specific human phenotypes associated with VGLL2 variants have not yet been well-characterized in the literature.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein with a transcriptional enhancer factor 1 (TEF-1) interaction domain. The encoded protein may act as a co-factor of TEF-1 regulated gene expression during skeletal muscle development. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.57

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429