Gene: SOX11

Alternate names for this Gene: CSS9|MRD27

Gene Summary: 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. The protein may function in the developing nervous system and play a role in tumorigenesis.

Gene is located in Chromosome: 2

Location in Chromosome : 2p25.2

Description of this Gene: SRY-box transcription factor 11

Type of Gene: protein-coding

rs1553327954 in SOX11 gene and Multiple congenital anomalies PMID 15254231 2004 Gene targeting reveals a widespread role for the high-mobility-group transcription factor Sox11 in tissue remodeling.

PMID 24886874 2014 De novo SOX11 mutations cause Coffin-Siris syndrome.

PMID 26543203 2016 Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.