SOX18

This 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. This protein plays a role in hair, blood vessel, and lymphatic vessel development. Mutations in this gene have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. [provided by RefSeq]

SRY (sex determining region Y)-box 18

Transcriptional activator that binds to the consensus sequence 5'-AACAAAG-3' in the promoter of target genes and plays an essential role in embryonic cardiovascular development and lymphangiogenesis. Activates transcription of PROX1 and other genes coding for lymphatic endothelial markers. Plays an essential role in triggering the differentiation of lymph vessels, but is not required for the maintenance of differentiated lymphatic endothelial cells. Plays an important role in postnatal angiogenesis, where it is functionally redundant with SOX17. Interaction with MEF2C enhances transcriptional activation. Besides, required for normal hair development.

Biological Process anatomical structure morphogenesisManual Assertion Based On ExperimentIBA:GO_Central
Biological Process angiogenesisManual Assertion Based On ExperimentIEP:UniProtKB
Biological Process blood vessel endothelial cell migrationManual Assertion Based On ExperimentIEP:UniProtKB
Biological Process cell differentiationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process cell maturationIEA:Ensembl
Biological Process embryonic heart tube developmentISS:BHF-UCL
Biological Process endocardial cell differentiationISS:BHF-UCL
Biological Process endocardium formationISS:BHF-UCL
Biological Process establishment of endothelial barrierManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process hair cycle processManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process hair follicle developmentIEA:Ensembl
Biological Process heart loopingISS:BHF-UCL
Biological Process in utero embryonic developmentIEA:Ensembl
Biological Process lymphangiogenesisManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process lymphatic endothelial cell differentiationISS:BHF-UCL
Biological Process negative regulation of DNA-templated transcriptionISS:BHF-UCL
Biological Process negative regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process outflow tract morphogenesisISS:BHF-UCL
Biological Process positive regulation of DNA-templated transcriptionISS:BHF-UCL
Biological Process positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process regulation of DNA-templated transcriptionManual Assertion Based On ExperimentIBA:GO_Central
Biological Process regulation of stem cell proliferationIEA:Ensembl
Biological Process stem cell fate specificationIEA:Ensembl
Biological Process vasculature developmentISS:BHF-UCL
Biological Process vasculogenesisISS:BHF-UCL

Nucleus

Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS):
A syndrome characterized by absent eyebrows and eyelashes, lymphatic edemas of the inferior members or eyelids, and peripheral vein anomalies.
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (HLTRS):
A syndrome characterized by sparse hair, lymphatic edemas, peripheral vein anomalies, and renal disease.