SOX11

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.

SRY-Box 11

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).

Biological Process anatomical structure morphogenesisManual Assertion Based On ExperimentIBA:GO_Central
Biological Process cardiac ventricle formationISS:UniProtKB
Biological Process cell differentiationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process closure of optic fissureISS:UniProtKB
Biological Process cornea development in camera-type eyeISS:UniProtKB
Biological Process embryonic digestive tract morphogenesisISS:UniProtKB
Biological Process embryonic skeletal system morphogenesisISS:UniProtKB
Biological Process eyelid development in camera-type eyeISS:UniProtKB
Biological Process glial cell developmentISS:UniProtKB
Biological Process glial cell proliferationISS:UniProtKB
Biological Process hard palate developmentISS:UniProtKB
Biological Process kidney developmentIEA:Ensembl
Biological Process lens morphogenesis in camera-type eyeISS:UniProtKB
Biological Process limb bud formationISS:UniProtKB
Biological Process lung morphogenesisISS:UniProtKB
Biological Process negative regulation of cell deathISS:UniProtKB
Biological Process negative regulation of gene expressionManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process negative regulation of glial cell proliferationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process negative regulation of lymphocyte proliferationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process negative regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process negative regulation of transcription regulatory region DNA bindingISS:UniProtKB
Biological Process neural crest cell developmentISS:UniProtKB
Biological Process neural tube formationISS:UniProtKB
Biological Process neuroepithelial cell differentiationISS:UniProtKB
Biological Process neuron differentiationManual Assertion Based On ExperimentIEP:UniProtKB
Biological Process noradrenergic neuron differentiationISS:UniProtKB
Biological Process oligodendrocyte developmentIEA:Ensembl
Biological Process outflow tract morphogenesisISS:UniProtKB
Biological Process positive regulation of BMP signaling pathwayISS:UniProtKB
Biological Process positive regulation of cell population proliferationISS:UniProtKB
Biological Process positive regulation of DNA-templated transcriptionISS:UniProtKB
Biological Process positive regulation of gene expressionManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of hippo signalingISS:UniProtKB
Biological Process positive regulation of hormone secretionISS:UniProtKB
Biological Process positive regulation of lens epithelial cell proliferationISS:UniProtKB
Biological Process positive regulation of neurogenesisISS:UniProtKB
Biological Process positive regulation of neuron differentiationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of ossificationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of osteoblast differentiationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of stem cell proliferationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:GO_Central
Biological Process regulation of DNA-templated transcriptionManual Assertion Based On ExperimentIBA:GO_Central
Biological Process regulation of transforming growth factor beta receptor signaling pathwayManual Assertion Based On ExperimentIEP:UniProtKB
Biological Process skeletal muscle cell differentiationIEA:Ensembl
Biological Process skeletal system developmentISS:UniProtKB
Biological Process soft palate developmentISS:UniProtKB
Biological Process somite developmentISS:UniProtKB
Biological Process spinal cord developmentISS:UniProtKB
Biological Process sympathetic nervous system developmentISS:UniProtKB
Biological Process ventricular septum morphogenesisISS:UniProtKB

Nucleus

Coffin-Siris syndrome 9 (CSS9):
A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. CSS9 is an autosomal dominant form characterized by dysmorphic facial features, microcephaly, growth deficiency, hypoplastic fifth toenails, and mild intellectual disability.