SOX4

Chr 6

SRY-box transcription factor 4

Also known as: CSS10, EVI16, IDDSDF

NCBI Gene: 6659 ENSG00000124766 UniProt: Q06945

The SOX4 protein is a transcription factor that regulates embryonic development, cell fate determination, and skeletal muscle differentiation by binding to specific DNA sequences and activating gene expression. Mutations cause autosomal dominant intellectual developmental disorder with speech delay and dysmorphic facies. This gene is highly constrained against loss-of-function variants (pLI 0.93, LOEUF 0.36), indicating that mutations are likely to have significant clinical consequences.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This intronless 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, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein. [provided by RefSeq, Jul 2008]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder with speech delay and dysmorphic facies

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

155

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.36

LOEUF

LOF

Mechanism· predicted

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