Entity Details

Primary name THOC2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8NI27
EntryNameTHOC2_HUMAN
FullNameTHO complex subunit 2
TaxID9606
Evidenceevidence at protein level
Length1593
SequenceStatuscomplete
DateCreated2003-10-10
DateModified2021-06-02

Ontological Relatives

GenesTHOC2

GO terms

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GOName
GO:0000346 transcription export complex
GO:0000347 THO complex
GO:0000445 THO complex part of transcription export complex
GO:0003729 mRNA binding
GO:0005654 nucleoplasm
GO:0006405 RNA export from nucleus
GO:0006406 mRNA export from nucleus
GO:0008380 RNA splicing
GO:0016607 nuclear speck
GO:0016973 poly(A)+ mRNA export from nucleus
GO:0031124 mRNA 3'-end processing
GO:0046784 viral mRNA export from host cell nucleus
GO:0048666 neuron development
GO:0048699 generation of neurons

Subcellular Location

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Subcellular Location
Nucleus
Nucleus speckle

Domains

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DomainNameCategoryType
IPR021418 THO complex, subunitTHOC2, C-terminalDomainDomain
IPR021726 THO complex, subunitTHOC2, N-terminalDomainDomain
IPR032302 THO complex subunit 2, N-terminal domainDomainDomain
IPR040007 THO complex subunit 2FamilyFamily

Diseases

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Disease IDSourceNameDescription
300957 OMIMMental retardation, X-linked 12 (MRX12)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. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRX12 patients manifest variable degrees of intellectual disability. Commonly observed features included speech delay, elevated BMI, short stature, seizure disorders, gait disturbance, and tremors. The disease is caused by variants affecting the gene represented in this entry.