Entity Details

Primary name SOX18_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP35713
EntryNameSOX18_HUMAN
FullNameTranscription factor SOX-18
TaxID9606
Evidenceevidence at protein level
Length384
SequenceStatuscomplete
DateCreated1994-06-01
DateModified2021-06-02

Ontological Relatives

GenesSOX18

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000785 chromatin
GO:0000976 transcription cis-regulatory region binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0001525 angiogenesis
GO:0001570 vasculogenesis
GO:0001701 in utero embryonic development
GO:0001942 hair follicle development
GO:0001944 vasculature development
GO:0001946 lymphangiogenesis
GO:0001947 heart looping
GO:0003151 outflow tract morphogenesis
GO:0005634 nucleus
GO:0005667 transcription regulator complex
GO:0006355 regulation of transcription, DNA-templated
GO:0009653 anatomical structure morphogenesis
GO:0022405 hair cycle process
GO:0030154 cell differentiation
GO:0035050 embryonic heart tube development
GO:0043534 blood vessel endothelial cell migration
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0048469 cell maturation
GO:0048866 stem cell fate specification
GO:0060214 endocardium formation
GO:0060836 lymphatic endothelial cell differentiation
GO:0060956 endocardial cell differentiation
GO:0061028 establishment of endothelial barrier
GO:0072091 regulation of stem cell proliferation
GO:1990837 sequence-specific double-stranded DNA binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR009071 High mobility group box domainDomainDomain
IPR021934 Sox, C-terminalDomainDomain
IPR033392 Sox 7/17/18, central domainDomainDomain
IPR036910 High mobility group box domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
137940 OMIMHypotrichosis-lymphedema-telangiectasia-renal defect syndrome (HLTRS)A syndrome characterized by sparse hair, lymphatic edemas, peripheral vein anomalies, and renal disease. The disease is caused by variants affecting the gene represented in this entry.
607823 OMIMHypotrichosis-lymphedema-telangiectasia syndrome (HLTS)A syndrome characterized by absent eyebrows and eyelashes, lymphatic edemas of the inferior members or eyelids, and peripheral vein anomalies. The disease is caused by variants affecting the gene represented in this entry.

Interactions

5 interactions