SOX11 gene

SRY-box transcription factor 11

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Jul 2008]

From UniProt:

Transcription factor that acts as a transcriptional activator (PubMed:24886874). Binds cooperatively with POU3F2/BRN2 or POU3F1/OCT6 to gene promoters, which enhances transcriptional activation (By similarity). Acts as a transcriptional activator of TEAD2 by binding to its gene promoter and first intron (By similarity). Plays a redundant role with SOX4 and SOX12 in cell survival of developing tissues such as the neural tube, branchial arches and somites, thereby contributing to organogenesis (By similarity).

From NCBI Gene:

  • Mental retardation, autosomal dominant 27

From UniProt:

Mental retardation, autosomal dominant 27 (MRD27): A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD27 patients show dysmorphic facial features, microcephaly, growth deficiency, hypoplastic fifth toenails, and mild intellectual disability. [MIM:615866]

Cytogenetic Location: 2p25.2, which is the short (p) arm of chromosome 2 at position 25.2

Molecular Location: base pairs 5,692,384 to 5,701,385 on chromosome 2 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 2p25.2, which is the short (p) arm of chromosome 2 at position 25.2
  • CSS9
  • MRD27