• Gene id: 57187

Gene Summary

• Gene Symbol: THOC2   Gene   UCSC   Ensembl
• Aliases: CXorf3, MRX12, MRX35, THO2, dJ506G2.1, hTREX120
• Gene name: THO complex 2
• Alternate names: THO complex subunit 2, mental retardation, X-linked 12, mental retardation, X-linked 35,
• Gene location: Xq25 (123733053: 123600562)     Exons: 33     NC_000023.11
• Gene summary(Entrez): The TREX multiprotein complex binds specifically to spliced mRNAs to facilitate mRNA export. The protein encoded by this gene is a member of the THO complex, a subset of the TREX complex. The encoded protein interacts with the THOC1 protein.[provided by R
• OMIM: 300395

Protein Summary

• Protein general information: Q8NI27  
  • Name: THO complex subunit 2 (Tho2) (hTREX120)
  • Length: 1593  
  • Mass: 182775
  • Tissue specificity: Expressed in the hippocampus and the cerebral cortex. {ECO
• Sequence:

  MAAAAVVVPAEWIKNWEKSGRGEFLHLCRILSENKSHDSSTYRDFQQALYELSYHVIKGNLKHEQASNVLSDISE
  FREDMPSILADVFCILDIETNCLEEKSKRDYFTQLVLACLYLVSDTVLKERLDPETLESLGLIKQSQQFNQKSVK
  IKTKLFYKQQKFNLLREENEGYAKLIAELGQDLSGSITSDLILENIKSLIGCFNLDPNRVLDVILEVFECRPEHD
  DFFISLLESYMSMCEPQTLCHILGFKFKFYQEPNGETPSSLYRVAAVLLQFNLIDLDDLYVHLLPADNCIMDEHK
  REIAEAKQIVRKLTMVVLSSEKMDEREKEKEKEEEKVEKPPDNQKLGLLEALLKIGDWQHAQNIMDQMPPYYAAS
  HKLIALAICKLIHITIEPLYRRVGVPKGAKGSPVNALQNKRAPKQAESFEDLRRDVFNMFCYLGPHLSHDPILFA
  KVVRIGKSFMKEFQSDGSKQEDKEKTEVILSCLLSITDQVLLPSLSLMDCNACMSEELWGMFKTFPYQHRYRLYG
  QWKNETYNSHPLLVKVKAQTIDRAKYIMKRLTKENVKPSGRQIGKLSHSNPTILFDYILSQIQKYDNLITPVVDS
  LKYLTSLNYDVLAYCIIEALANPEKERMKHDDTTISSWLQSLASFCGAVFRKYPIDLAGLLQYVANQLKAGKSFD
  LLILKEVVQKMAGIEITEEMTMEQLEAMTGGEQLKAEGGYFGQIRNTKKSSQRLKDALLDHDLALPLCLLMAQQR
  NGVIFQEGGEKHLKLVGKLYDQCHDTLVQFGGFLASNLSTEDYIKRVPSIDVLCNEFHTPHDAAFFLSRPMYAHH
  ISSKYDELKKSEKGSKQQHKVHKYITSCEMVMAPVHEAVVSLHVSKVWDDISPQFYATFWSLTMYDLAVPHTSYE
  REVNKLKVQMKAIDDNQEMPPNKKKKEKERCTALQDKLLEEEKKQMEHVQRVLQRLKLEKDNWLLAKSTKNETIT
  KFLQLCIFPRCIFSAIDAVYCARFVELVHQQKTPNFSTLLCYDRVFSDIIYTVASCTENEASRYGRFLCCMLETV
  TRWHSDRATYEKECGNYPGFLTILRATGFDGGNKADQLDYENFRHVVHKWHYKLTKASVHCLETGEYTHIRNILI
  VLTKILPWYPKVLNLGQALERRVHKICQEEKEKRPDLYALAMGYSGQLKSRKSYMIPENEFHHKDPPPRNAVASV
  QNGPGGGPSSSSIGSASKSDESSTEETDKSRERSQCGVKAVNKASSTTPKGNSSNGNSGSNSNKAVKENDKEKGK
  EKEKEKKEKTPATTPEARVLGKDGKEKPKEERPNKDEKARETKERTPKSDKEKEKFKKEEKAKDEKFKTTVPNAE
  SKSTQEREREKEPSRERDIAKEMKSKENVKGGEKTPVSGSLKSPVPRSDIPEPEREQKRRKIDTHPSPSHSSTVK
  DSLIELKESSAKLYINHTPPPLSKSKEREMDKKDLDKSRERSREREKKDEKDRKERKRDHSNNDREVPPDLTKRR
  KEENGTMGVSKHKSESPCESPYPNEKDKEKNKSKSSGKEKGSDSFKSEKMDKISSGGKKESRHDKEKIEKKEKRD
  SSGGKEEKKHHKSSDKHR

• Structural information:
  • Interpro: IPR040007  IPR021418  IPR021726  IPR032302  
  • STRING: ENSP00000245838
• Other Databases: GeneCards:  THOC2  Malacards:  THOC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006406	mRNA export from nucleus	IBA	biological process
GO:0003729	mRNA binding	IBA	molecular function
GO:0000445	THO complex part of transcription export complex	IBA	cellular component
GO:0046784	viral mRNA export from host cell nucleus	IDA	biological process
GO:0016973	poly(A)+ mRNA export from nucleus	IDA	biological process
GO:0000445	THO complex part of transcription export complex	IDA	cellular component
GO:0000347	THO complex	IDA	cellular component
GO:0006406	mRNA export from nucleus	IDA	biological process
GO:0000346	transcription export complex	IDA	cellular component
GO:0000346	transcription export complex	IDA	cellular component
GO:0048699	generation of neurons	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048666	neuron development	IMP	biological process
GO:0000347	THO complex	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0006406	mRNA export from nucleus	IEA	biological process
GO:0051028	mRNA transport	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006405	RNA export from nucleus	TAS	biological process
GO:0031124	mRNA 3'-end processing	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0010468	regulation of gene expression	IEA	biological process
GO:0010977	negative regulation of neuron projection development	IEA	biological process
GO:0000902	cell morphogenesis	IEA	biological process
GO:0001824	blastocyst development	IEA	biological process
GO:0003729	mRNA binding	IEA	molecular function
GO:0010793	regulation of mRNA export from nucleus	IEA	biological process
GO:0017145	stem cell division	IEA	biological process
GO:0000784	nuclear chromosome, telomeric region	IDA	colocalizes with
GO:0016607	nuclear speck	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03013	RNA transport
hsa03040	Spliceosome

Diseases

Associated diseases	References
X-linked mental retardation	KEGG:H00480
X-linked mental retardation	KEGG:H00480
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)