SOX5

Chr 12

SRY-box transcription factor 5

Also known as: L-SOX5, L-SOX5B, L-SOX5F, LAMSHF

NCBI Gene: 6660 ENSG00000134532 UniProt: P35711

The SOX5 protein is a transcription factor that regulates embryonic development and cell fate determination, with particular involvement in chondrogenesis. Loss-of-function mutations cause Lamb-Shaffer syndrome, an autosomal dominant neurodevelopmental disorder. The gene is highly constrained against loss-of-function variants, indicating that haploinsufficiency is the mechanism underlying this condition.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLamb-Shaffer syndrome

Clinical highlights

Gene-disease validity (ClinGen)

Lamb-Shaffer syndrome · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.19

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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