Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	57187
Gene name	THO complex subunit 2
Gene symbol	THOC2
Synonyms (NCBI Gene)	AMC7CXorf3MRX12MRX35THO2XLID12dJ506G2.1hTREX120
Chromosome	X
Chromosome location	Xq25
Summary	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

Show/Hide all (10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs797045018	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797045019	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797045020	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797045021	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1556005930	T>C	Likely-pathogenic	Splice acceptor variant
rs1556014935	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1556015437	T>G	Likely-pathogenic	Intron variant
rs1556023928	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1556024875	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1603326578	T>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant

117

Show/Hide all (117)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024250	hsa-miR-218-5p	Sequencing	20371350
MIRT025327	hsa-miR-34a-5p	Proteomics	21566225
MIRT025327	hsa-miR-34a-5p	Proteomics	21566225
MIRT030768	hsa-miR-21-5p	Microarray	18591254
MIRT047168	hsa-miR-183-5p	CLASH	23622248
MIRT036819	hsa-miR-877-3p	CLASH	23622248
MIRT035917	hsa-miR-1180-3p	CLASH	23622248
MIRT698501	hsa-miR-3617-5p	HITS-CLIP	23313552
MIRT698500	hsa-miR-641	HITS-CLIP	23313552
MIRT698499	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT698498	hsa-miR-4301	HITS-CLIP	23313552
MIRT698497	hsa-miR-532-3p	HITS-CLIP	23313552
MIRT698496	hsa-miR-6831-3p	HITS-CLIP	23313552
MIRT698495	hsa-miR-7106-3p	HITS-CLIP	23313552
MIRT698494	hsa-miR-3140-3p	HITS-CLIP	23313552
MIRT698493	hsa-miR-3606-5p	HITS-CLIP	23313552
MIRT698492	hsa-miR-921	HITS-CLIP	23313552
MIRT698491	hsa-miR-3156-3p	HITS-CLIP	23313552
MIRT698490	hsa-miR-3591-5p	HITS-CLIP	23313552
MIRT698501	hsa-miR-3617-5p	HITS-CLIP	23313552
MIRT698500	hsa-miR-641	HITS-CLIP	23313552
MIRT698499	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT698498	hsa-miR-4301	HITS-CLIP	23313552
MIRT698497	hsa-miR-532-3p	HITS-CLIP	23313552
MIRT698496	hsa-miR-6831-3p	HITS-CLIP	23313552
MIRT698495	hsa-miR-7106-3p	HITS-CLIP	23313552
MIRT698494	hsa-miR-3140-3p	HITS-CLIP	23313552
MIRT698493	hsa-miR-3606-5p	HITS-CLIP	23313552
MIRT698492	hsa-miR-921	HITS-CLIP	23313552
MIRT698491	hsa-miR-3156-3p	HITS-CLIP	23313552
MIRT698490	hsa-miR-3591-5p	HITS-CLIP	23313552
MIRT1423425	hsa-miR-3653	CLIP-seq
MIRT1423426	hsa-miR-3658	CLIP-seq
MIRT1423427	hsa-miR-4477a	CLIP-seq
MIRT1423428	hsa-miR-4511	CLIP-seq
MIRT1423429	hsa-miR-539	CLIP-seq
MIRT1423430	hsa-miR-548b-3p	CLIP-seq
MIRT1423431	hsa-miR-580	CLIP-seq
MIRT2126855	hsa-miR-2052	CLIP-seq
MIRT2126856	hsa-miR-4724-5p	CLIP-seq
MIRT2126857	hsa-miR-548a-3p	CLIP-seq
MIRT2126858	hsa-miR-548ac	CLIP-seq
MIRT2126859	hsa-miR-548ae	CLIP-seq
MIRT2126860	hsa-miR-548aj	CLIP-seq
MIRT2126861	hsa-miR-548am	CLIP-seq
MIRT2126862	hsa-miR-548d-3p	CLIP-seq
MIRT2126863	hsa-miR-548e	CLIP-seq
MIRT2126864	hsa-miR-548f	CLIP-seq
MIRT2126865	hsa-miR-548x	CLIP-seq
MIRT2126866	hsa-miR-548z	CLIP-seq
MIRT2126867	hsa-miR-640	CLIP-seq
MIRT2348681	hsa-miR-4328	CLIP-seq
MIRT2348682	hsa-miR-607	CLIP-seq
MIRT2641845	hsa-let-7a	CLIP-seq
MIRT2641846	hsa-let-7b	CLIP-seq
MIRT2641847	hsa-let-7c	CLIP-seq
MIRT2641848	hsa-let-7d	CLIP-seq
MIRT2641849	hsa-let-7e	CLIP-seq
MIRT2641850	hsa-let-7f	CLIP-seq
MIRT2641851	hsa-let-7g	CLIP-seq
MIRT2641852	hsa-let-7i	CLIP-seq
MIRT2641853	hsa-miR-101	CLIP-seq
MIRT2641854	hsa-miR-144	CLIP-seq
MIRT2641855	hsa-miR-202	CLIP-seq
MIRT2641856	hsa-miR-3647-3p	CLIP-seq
MIRT1423425	hsa-miR-3653	CLIP-seq
MIRT1423426	hsa-miR-3658	CLIP-seq
MIRT2641857	hsa-miR-3662	CLIP-seq
MIRT2641858	hsa-miR-3668	CLIP-seq
MIRT2641859	hsa-miR-3692	CLIP-seq
MIRT2641860	hsa-miR-3942-5p	CLIP-seq
MIRT2348681	hsa-miR-4328	CLIP-seq
MIRT2641861	hsa-miR-4422	CLIP-seq
MIRT2641862	hsa-miR-4458	CLIP-seq
MIRT1423427	hsa-miR-4477a	CLIP-seq
MIRT2641863	hsa-miR-4500	CLIP-seq
MIRT1423428	hsa-miR-4511	CLIP-seq
MIRT2641864	hsa-miR-4668-3p	CLIP-seq
MIRT2641865	hsa-miR-4703-5p	CLIP-seq
MIRT2641866	hsa-miR-4717-3p	CLIP-seq
MIRT2641867	hsa-miR-4802-3p	CLIP-seq
MIRT1423430	hsa-miR-548b-3p	CLIP-seq
MIRT2641868	hsa-miR-590-3p	CLIP-seq
MIRT2641869	hsa-miR-98	CLIP-seq
MIRT2641845	hsa-let-7a	CLIP-seq
MIRT2641846	hsa-let-7b	CLIP-seq
MIRT2641847	hsa-let-7c	CLIP-seq
MIRT2641848	hsa-let-7d	CLIP-seq
MIRT2641849	hsa-let-7e	CLIP-seq
MIRT2641850	hsa-let-7f	CLIP-seq
MIRT2641851	hsa-let-7g	CLIP-seq
MIRT2641852	hsa-let-7i	CLIP-seq
MIRT2641853	hsa-miR-101	CLIP-seq
MIRT2641854	hsa-miR-144	CLIP-seq
MIRT2641855	hsa-miR-202	CLIP-seq
MIRT2693126	hsa-miR-3065-5p	CLIP-seq
MIRT2641856	hsa-miR-3647-3p	CLIP-seq
MIRT1423425	hsa-miR-3653	CLIP-seq
MIRT1423426	hsa-miR-3658	CLIP-seq
MIRT2641857	hsa-miR-3662	CLIP-seq
MIRT2641858	hsa-miR-3668	CLIP-seq
MIRT2641859	hsa-miR-3692	CLIP-seq
MIRT2641860	hsa-miR-3942-5p	CLIP-seq
MIRT2693127	hsa-miR-421	CLIP-seq
MIRT2348681	hsa-miR-4328	CLIP-seq
MIRT2641861	hsa-miR-4422	CLIP-seq
MIRT2641862	hsa-miR-4458	CLIP-seq
MIRT1423427	hsa-miR-4477a	CLIP-seq
MIRT2641863	hsa-miR-4500	CLIP-seq
MIRT1423428	hsa-miR-4511	CLIP-seq
MIRT2641864	hsa-miR-4668-3p	CLIP-seq
MIRT2641865	hsa-miR-4703-5p	CLIP-seq
MIRT2641866	hsa-miR-4717-3p	CLIP-seq
MIRT2641867	hsa-miR-4802-3p	CLIP-seq
MIRT1423430	hsa-miR-548b-3p	CLIP-seq
MIRT2641868	hsa-miR-590-3p	CLIP-seq
MIRT2641869	hsa-miR-98	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000346	Component	Transcription export complex	IDA	15833825, 15998806
GO:0000347	Component	THO complex	IDA	15998806
GO:0000347	Component	THO complex	IEA
GO:0000445	Component	THO complex part of transcription export complex	IBA
GO:0000445	Component	THO complex part of transcription export complex	IDA	15998806
GO:0000781	Component	Chromosome, telomeric region	IDA	24270157
GO:0000902	Process	Cell morphogenesis	IEA
GO:0001824	Process	Blastocyst development	IEA
GO:0003723	Function	RNA binding	IEA
GO:0003729	Function	MRNA binding	IBA
GO:0003729	Function	MRNA binding	IEA
GO:0005515	Function	Protein binding	IPI	15870275, 22928037
GO:0005634	Component	Nucleus	IDA	29851191
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	29851191
GO:0005737	Component	Cytoplasm	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0006406	Process	MRNA export from nucleus	IBA
GO:0006406	Process	MRNA export from nucleus	IDA	17190602
GO:0006406	Process	MRNA export from nucleus	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010793	Process	Regulation of mRNA export from nucleus	IEA
GO:0010977	Process	Negative regulation of neuron projection development	IEA
GO:0016607	Component	Nuclear speck	IEA
GO:0016973	Process	Poly(A)+ mRNA export from nucleus	IDA	22928037
GO:0017145	Process	Stem cell division	IEA
GO:0048666	Process	Neuron development	IMP	26166480
GO:0048699	Process	Generation of neurons	IMP	26166480
GO:0051028	Process	MRNA transport	IEA

MIM	HGNC	e!Ensembl
300395	19073	ENSG00000125676

Q8NI27

Protein name

THO complex subunit 2 (Tho2) (hTREX120)

Protein function

Component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA (PubMed:15833825, PubMed:159988

PDB

7APK , 7ZNK , 7ZNL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16134	THOC2_N	8 → 423	THO complex subunit 2 N-terminus	Family
PF16134	THOC2_N	414 → 566	THO complex subunit 2 N-terminus	Family
PF11732	Thoc2	568 → 643	Transcription- and export-related complex subunit	Family
PF11262	Tho2	873 → 1173	Transcription factor/nuclear export subunit protein 2	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in the hippocampus and the cerebral cortex. {ECO:0000269|PubMed:26166480}.

Sequence

MAAAAVVVPAEWIKNWEKSGRGEFLHLCRILSENKSHDSSTYRDFQQALYELSYHVIKGN
LKHEQASNVLSDISEFREDMPSILADVFCILDIETNCLEEKSKRDYFTQLVLACLYLVSD
TVLKERLDPETLESLGLIKQSQQFNQKSVKIKTKLFYKQQKFNLLREENEGYAKLIAELG
QDLSGSITSDLILENIKSLIGCFNLDPNRVLDVILEVFECRPEHDDFFISLLESYMSMCE
PQTLCHILGFKFKFYQEPNGETPSSLYRVAAVLLQFNLIDLDDLYVHLLPADNCIMDEHK
REIAEAKQIVRKLTMVVLSSEKMDEREKEKEKEEEKVEKPPDNQKLGLLEALLKIGDWQH
AQNIMDQMPPYYAASHKLIALAICKLIHITIEPLYRRVGVPKGAKGSPVNALQNKRAPKQ
AESFEDLRRDVFNMFCYLGPHLSHDPILFAKVVRIGKSFMKEFQSDGSKQEDKEKTEVIL
SCLLSITDQVLLPSLSLMDCNACMSEELWGMFKTFPYQHRYRLYGQWKNETYNSHPLLVK
VKAQTIDRAKYIMKRLTKENVKPSGRQIGKLSHSNPTILFDYILSQIQKYDNLITPVVDS
LKYLTSLNYDVLAYCIIEALANPEKERMKHDDTTISSWLQSLASFCGAVFRKYPIDLAGL
LQYVANQLKAGKSFDLLILKEVVQKMAGIEITEEMTMEQLEAMTGGEQLKAEGGYFGQIR
NTKKSSQRLKDALLDHDLALPLCLLMAQQRNGVIFQEGGEKHLKLVGKLYDQCHDTLVQF
GGFLASNLSTEDYIKRVPSIDVLCNEFHTPHDAAFFLSRPMYAHHISSKYDELKKSEKGS
KQQHKVHKYITSCEMVMAPVHEAVVSLHVSKVWDDISPQFYATFWSLTMYDLAVPHTSYE
REVNKLKVQMKAIDDNQEMPPNKKKKEKERCTALQDKLLEEEKKQMEHVQRVLQRLKLEK
DNWLLAKSTKNETITKFLQLCIFPRCIFSAIDAVYCARFVELVHQQKTPNFSTLLCYDRV
FSDIIYTVASCTENEASRYGRFLCCMLETVTRWHSDRATYEKECGNYPGFLTILRATGFD
GGNKADQLDYENFRHVVHKWHYKLTKASVHCLETGEYTHIRNILIVLTKILPWYPKVLNL
GQALERRVHKICQEEKEKRPDLYALAMGYSGQLKSRKSYMIPENEFHHKDPPPRNAVASV
QNGPGGGPSSSSIGSASKSDESSTEETDKSRERSQCGVKAVNKASSTTPKGNSSNGNSGS
NSNKAVKENDKEKGKEKEKEKKEKTPATTPEARVLGKDGKEKPKEERPNKDEKARETKER
TPKSDKEKEKFKKEEKAKDEKFKTTVPNAESKSTQEREREKEPSRERDIAKEMKSKENVK
GGEKTPVSGSLKSPVPRSDIPEPEREQKRRKIDTHPSPSHSSTVKDSLIELKESSAKLYI
NHTPPPLSKSKEREMDKKDLDKSRERSREREKKDEKDRKERKRDHSNNDREVPPDLTKRR
KEENGTMGVSKHKSESPCESPYPNEKDKEKNKSKSSGKEKGSDSFKSEKMDKISSGGKKE
SRHDKEKIEKKEKRDSSGGKEEKKHHKSSDKHR

Sequence length

1593

Interactions

View interactions

	KEGG		Reactome
	Nucleocytoplasmic transport Spliceosome		Transport of Mature mRNA derived from an Intron-Containing Transcript mRNA 3'-end processing RNA Polymerase II Transcription Termination

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
X-linked intellectual disability-short stature-overweight syndrome	Likely pathogenic; Pathogenic	rs2147667154, rs2148016775, rs2147617004, rs797045018, rs797045019, rs797045020, rs797045021, rs1556005930, rs1556014935, rs1556015437, rs1556015593, rs1556023928, rs1556024875, rs1603246794, rs1603326578, rs2047665750, rs2047177327 View all (2 more)	RCV002077375 RCV002274474 RCV002274477 RCV000190530 RCV000190531 RCV000190532 RCV000190533 RCV000664427 RCV000664425 RCV000664426 RCV000664430 RCV000664424 RCV000664423 RCV000991320 RCV000995899 RCV001375047 RCV001264749

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial cancer of breast	Likely benign	rs181749437	RCV005901008
Intellectual disability	Uncertain significance	rs1603242447, rs2047169812	RCV005626283 RCV001310257
Neurodevelopmental abnormality	Uncertain significance	rs2050464723	RCV001264628
Neurodevelopmental disorder	Uncertain significance	rs2147599772	RCV001780009
Nonpapillary renal cell carcinoma	Uncertain significance	rs773147391, rs2521399199	RCV005911257 RCV005930803
Sarcoma	Likely benign	rs181749437	RCV005901009
See cases	Uncertain significance	rs2147617020	RCV002252834
THOC2-related disorder	Uncertain significance; Likely benign; Benign	rs1173164682, rs1483498582, rs2521254701, rs1213731346, rs2521010862, rs549256040, rs746970138, rs377034317, rs2521399039, rs771617419, rs2048079347, rs368394995, rs186145610, rs141055699, rs190465904	RCV003418535 RCV003946447 RCV003414108 RCV003427812 RCV003402371 RCV003421153 RCV003412390 RCV003414255 RCV003404405 RCV003909514 RCV003934192 RCV003969200 RCV003940828 RCV003933089 RCV003942966
Thyroid cancer, nonmedullary, 1	Benign	rs369296561	RCV005903214

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Brain Diseases	Associate	29851191
Cerebral Palsy	Associate	35076175
Cholangiocarcinoma	Associate	32116234
Developmental Disabilities	Associate	35183220
Epilepsy	Associate	26166480, 29851191
Gait Disorders Neurologic	Associate	26166480
Growth Disorders	Associate	29851191
Intellectual Disability	Associate	26166480, 29851191, 34946860, 8825049
Language Development Disorders	Associate	26166480
Melanoma	Associate	31680623
Tremor	Associate	26166480

THOC2 (THO complex subunit 2)