Entity Details

Primary name SALL2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9Y467
EntryNameSALL2_HUMAN
FullNameSal-like protein 2
TaxID9606
Evidenceevidence at protein level
Length1007
SequenceStatuscomplete
DateCreated2002-05-02
DateModified2021-06-02

Ontological Relatives

GenesSALL2

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA 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:0001654 eye development
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0021915 neural tube development
GO:0044877 protein-containing complex binding
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046872 metal ion binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR013087 Zinc finger C2H2-typeDomainDomain
IPR036236 Zinc finger C2H2 superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
216820 OMIMColoboma, ocular, autosomal recessive (COAR)An ocular anomaly resulting from abnormal morphogenesis of the optic cup and stalk, and incomplete fusion of the fetal intra-ocular fissure during gestation. The clinical presentation is variable. Some individuals may present with minimal defects in the anterior iris leaf without other ocular defects. More complex malformations create a combination of iris, uveoretinal and/or optic nerve defects without or with microphthalmia or even anophthalmia. The disease is caused by variants affecting the gene represented in this entry.