protein
Transcription factor SOX-11
Gene
SOX11
Organism
Homo sapiens(9606)
Length
441 aa
Mass
46,679 Da
SOX11 is a transcription factor that functions as a transcriptional activator, binding cooperatively with POU3F2/BRN2 or POU3F1/OCT6 to enhance transcriptional activation at gene promoters and introns (UniProt: P35716). The protein acts on targets including TEAD2 and plays a redundant role with SOX4 and SOX12 in cell survival during organogenesis, particularly in developing neural tissue, branchial arches, and somites.
SOX11 is associated with intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH), an autosomal dominant condition characterized by developmental delay, impaired cognition, and microcephaly, with potential additional features including oculomotor apraxia, ocular malformations such as coloboma and microphthalmia, hypogonadotropic hypogonadism, and skeletal abnormalities.
SOX11 is curated in SFARI as a category 2 gene with syndromic autism association (SFARI Cat 2), indicating evidence linking this transcription factor to autism spectrum disorder in the context of broader developmental syndromes rather than non-syndromic presentations.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
Strong candidate — functional studies support ASD association
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
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)
Disease associations
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadismIDDMOH
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.
Sources
Last updated 5/6/2026, 5:23:47 AM