Entity Details

Primary name MD12L_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ86YW9
EntryNameMD12L_HUMAN
FullNameMediator of RNA polymerase II transcription subunit 12-like protein
TaxID9606
Evidenceevidence at protein level
Length2145
SequenceStatuscomplete
DateCreated2008-01-15
DateModified2021-06-02

Ontological Relatives

GenesMED12L

GO terms

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GOName
GO:0003713 transcription coactivator activity
GO:0006357 regulation of transcription by RNA polymerase II
GO:0008013 beta-catenin binding
GO:0008134 transcription factor binding
GO:0016592 mediator complex

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR019035 Mediator complex, subunit Med12DomainDomain
IPR021989 Mediator complex, subunit Med12, catenin-bindingDomainDomain
IPR021990 Mediator complex, subunit Med12, LCEWAV-domainDomainDomain

Diseases

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Disease IDSourceNameDescription
618872 OMIMNizon-Isidor syndrome (NIZIDS)An autosomal dominant neurodevelopmental disorder characterized by intellectual disability, global developmental delay, speech impairment, and behavioral abnormalities including autism spectrum disorder and aggressive behavior. Other features include a thin corpus callosum, and mild facial dysmorphism. Disease onset is in infancy or early childhood. The disease is caused by variants affecting the gene represented in this entry.

Interactions

7 interactions