THOC2
THO complex subunit 2
Also known as: CXorf3, dJ506G2.1, MRX12, MRX35, THO2, THOC2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8NI27
- Gene
- THOC2
- Ensembl
- ENSG00000125676
- Chromosome
- X
- Canonical length
- 1593 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
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 RefSeq, Jun 2010]
Canonical amino-acid sequenceUniProt
1593 residues, UniProt reviewed canonical sequence.
>Q8NI27|THOC2
1 MAAAAVVVPA EWIKNWEKSG RGEFLHLCRI LSENKSHDSS TYRDFQQALY ELSYHVIKGN
61 LKHEQASNVL SDISEFREDM PSILADVFCI LDIETNCLEE KSKRDYFTQL VLACLYLVSD
121 TVLKERLDPE TLESLGLIKQ SQQFNQKSVK IKTKLFYKQQ KFNLLREENE GYAKLIAELG
181 QDLSGSITSD LILENIKSLI GCFNLDPNRV LDVILEVFEC RPEHDDFFIS LLESYMSMCE
241 PQTLCHILGF KFKFYQEPNG ETPSSLYRVA AVLLQFNLID LDDLYVHLLP ADNCIMDEHK
301 REIAEAKQIV RKLTMVVLSS EKMDEREKEK EKEEEKVEKP PDNQKLGLLE ALLKIGDWQH
361 AQNIMDQMPP YYAASHKLIA LAICKLIHIT IEPLYRRVGV PKGAKGSPVN ALQNKRAPKQ
421 AESFEDLRRD VFNMFCYLGP HLSHDPILFA KVVRIGKSFM KEFQSDGSKQ EDKEKTEVIL
481 SCLLSITDQV LLPSLSLMDC NACMSEELWG MFKTFPYQHR YRLYGQWKNE TYNSHPLLVK
541 VKAQTIDRAK YIMKRLTKEN VKPSGRQIGK LSHSNPTILF DYILSQIQKY DNLITPVVDS
601 LKYLTSLNYD VLAYCIIEAL ANPEKERMKH DDTTISSWLQ SLASFCGAVF RKYPIDLAGL
661 LQYVANQLKA GKSFDLLILK EVVQKMAGIE ITEEMTMEQL EAMTGGEQLK AEGGYFGQIR
721 NTKKSSQRLK DALLDHDLAL PLCLLMAQQR NGVIFQEGGE KHLKLVGKLY DQCHDTLVQF
781 GGFLASNLST EDYIKRVPSI DVLCNEFHTP HDAAFFLSRP MYAHHISSKY DELKKSEKGS
841 KQQHKVHKYI TSCEMVMAPV HEAVVSLHVS KVWDDISPQF YATFWSLTMY DLAVPHTSYE
901 REVNKLKVQM KAIDDNQEMP PNKKKKEKER CTALQDKLLE EEKKQMEHVQ RVLQRLKLEK
961 DNWLLAKSTK NETITKFLQL CIFPRCIFSA IDAVYCARFV ELVHQQKTPN FSTLLCYDRV
1021 FSDIIYTVAS CTENEASRYG RFLCCMLETV TRWHSDRATY EKECGNYPGF LTILRATGFD
1081 GGNKADQLDY ENFRHVVHKW HYKLTKASVH CLETGEYTHI RNILIVLTKI LPWYPKVLNL
1141 GQALERRVHK ICQEEKEKRP DLYALAMGYS GQLKSRKSYM IPENEFHHKD PPPRNAVASV
1201 QNGPGGGPSS SSIGSASKSD ESSTEETDKS RERSQCGVKA VNKASSTTPK GNSSNGNSGS
1261 NSNKAVKEND KEKGKEKEKE KKEKTPATTP EARVLGKDGK EKPKEERPNK DEKARETKER
1321 TPKSDKEKEK FKKEEKAKDE KFKTTVPNAE SKSTQERERE KEPSRERDIA KEMKSKENVK
1381 GGEKTPVSGS LKSPVPRSDI PEPEREQKRR KIDTHPSPSH SSTVKDSLIE LKESSAKLYI
1441 NHTPPPLSKS KEREMDKKDL DKSRERSRER EKKDEKDRKE RKRDHSNNDR EVPPDLTKRR
1501 KEENGTMGVS KHKSESPCES PYPNEKDKEK NKSKSSGKEK GSDSFKSEKM DKISSGGKKE
1561 SRHDKEKIEK KEKRDSSGGK EEKKHHKSSD KHRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against THOC2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.37
- Highest tissue expression
- 42 nTPM
Expression across tissuesHPA
Tissue
- choroid plexus: 42 nTPM
- epididymis: 36 nTPM
- thymus: 36 nTPM
- retina: 32 nTPM
- ovary: 32 nTPM
- lymph node: 31 nTPM
Single-cell type
- alveolar cells type 1: 299 nCPM
- megakaryocyte-erythroid progenitors: 281 nCPM
- erythrocyte progenitors: 277 nCPM
- cone photoreceptor cells: 253 nCPM
- megakaryocyte progenitors: 243 nCPM
- sertoli cells: 241 nCPM
Immune cell
- plasmacytoid DC: 13 nTPM
- naive CD4 T-cell: 13 nTPM
- MAIT T-cell: 13 nTPM
- naive CD8 T-cell: 13 nTPM
- non-classical monocyte: 12 nTPM
- memory CD4 T-cell: 12 nTPM
Brain region
- choroid plexus: 37 nTPM
- white matter: 30 nTPM
- cerebellum: 27 nTPM
- medulla oblongata: 27 nTPM
- hypothalamus: 26 nTPM
- basal ganglia: 26 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about THOC2.
Disease | AllUniProt
Conditions THOC2 is implicated in, by any mechanism.
- Intellectual developmental disorder, X-linked, syndromic, Kumar type (MRXSK) MIM:300957
- Arthrogryposis multiplex congenita 7, X-linked (AMC7) MIM:301127
Disease | GeneticClinVar
21 pathogenic / likely-pathogenic of 602 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- X-linked intellectual disability-short stature-overweight syndrome
- Inborn genetic diseases
- THOC2-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.08
- gnomAD pLI
- 1
- gnomAD missense Z
- 5.53
- DepMap mean gene effect
- -2.02
- DepMap dependency class
- pan
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- blastocyst development
- cell morphogenesis
- generation of neurons
- mRNA export from nucleus
- mRNA processing
- negative regulation of neuron projection development
- neuron development
- poly(A)+ mRNA export from nucleus
- regulation of gene expression
- regulation of mRNA export from nucleus
- RNA splicing
- stem cell division
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- THO complex, subunitTHOC2, C-terminal
- THO complex, subunitTHOC2, N-terminal
- THO complex subunit 2, N-terminal domain
- THO complex subunit 2
- Transcription factor/nuclear export subunit protein 2
- Transcription- and export-related complex subunit
- THO complex subunit 2 N-terminus
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of THOC2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads THOC2 as an antibody target. Whether an autoantibody or antibody against THOC2 could matter depends on whether native THOC2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
THOC2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label THOC2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...