SOX11
Developmental stage
Expressed primarily in the fetal brain, with low expression in the lung, and kidney at 6-7 weeks dpc (PubMed:24886874, PubMed:8666406). Weak expression in the fetal heart and muscle (PubMed:24886874).
Function
Transcription factor that acts as a transcriptional activator (PubMed:24886874, PubMed:26543203). 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).
Involvement in disease
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
IDDMOH
An autosomal dominant disorder characterized by developmental delay, impaired intellectual development and microcephaly. Affected individuals may also have oculomotor apraxia, ocular malformations including coloboma, lens abnormalities and microphthalmia, and hypogonadotropic hypogonadism. Some patients may have finger clinodactyly and hypoplastic distal phalanges with nail hypoplasia, especially of the fifth digits.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Expressed primarily in the brain and heart, with low expression in the kidney, pancreas and muscle.
Cellular localization
- Nucleus
Alternative names
Transcription factor SOX-11, SOX11