Entity Details

Primary name VSX2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP58304
EntryNameVSX2_HUMAN
FullNameVisual system homeobox 2
TaxID9606
Evidenceevidence at protein level
Length361
SequenceStatuscomplete
DateCreated2001-09-26
DateModified2021-06-02

Ontological Relatives

GenesVSX2

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000785 chromatin
GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007275 multicellular organism development
GO:0007601 visual perception
GO:0050896 response to stimulus
GO:1990837 sequence-specific double-stranded DNA binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001356 Homeobox domainDomainDomain
IPR003654 OAR domainDomainDomain
IPR009057 Homeobox-like domain superfamilyFamilyHomologous superfamily
IPR017970 Homeobox, conserved siteSiteConserved site
IPR023339 CVC domainDomainDomain

Diseases

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Disease IDSourceNameDescription
610093 OMIMMicrophthalmia, isolated, 2 (MCOP2)A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. The disease is caused by variants affecting the gene represented in this entry.
610092 OMIMMicrophthalmia with cataracts and iris abnormalities (MCOPCTI)A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, cataract and other abnormalities like cataract may also be present. The disease is caused by variants affecting the gene represented in this entry.
610092 OMIMMicrophthalmia with cataracts and iris abnormalities (MCOPCTI)A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, cataract and other abnormalities like cataract may also be present. The disease is caused by variants affecting the gene represented in this entry.