Entity Details

Primary name ELP2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ6IA86
EntryNameELP2_HUMAN
FullNameElongator complex protein 2
TaxID9606
Evidenceevidence at protein level
Length826
SequenceStatuscomplete
DateCreated2005-12-06
DateModified2021-06-02

Ontological Relatives

GenesELP2

GO terms

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GOName
GO:0002098 tRNA wobble uridine modification
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0006357 regulation of transcription by RNA polymerase II
GO:0006368 transcription elongation from RNA polymerase II promoter
GO:0008023 transcription elongation factor complex
GO:0019901 protein kinase binding
GO:0033588 elongator holoenzyme complex
GO:0046425 regulation of receptor signaling pathway via JAK-STAT

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR001680 WD40 repeatRepeatRepeat
IPR015943 WD40/YVTN repeat-like-containing domain superfamilyFamilyHomologous superfamily
IPR036322 WD40-repeat-containing domain superfamilyFamilyHomologous superfamily
IPR037289 Elongator complex protein 2FamilyFamily

Diseases

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Disease IDSourceNameDescription
617270 OMIMMental retardation, autosomal recessive 58 (MRT58)A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT58 transmission pattern is consistent with autosomal recessive inheritance. The disease is caused by variants affecting the gene represented in this entry.