THOC2
entrez
57187
canonical
uniprot
Q8NI27
canonical
ensembl
ENSG00000125676
resolver
ensp
ENSP00000245838
resolver
ensp
ENSP00000601922
resolver
ensp
ENSP00000714314
resolver
genesymbol
THOC2
resolver
genesymbol_syn
CXorf3
resolver
hgnc
HGNC:19073
resolver
uniprot
A6NM50
resolver
uniprot
Q5JZ12
resolver
uniprot
Q6IN92
resolver
uniprot
Q9H8I6
resolver
uniprot_entry
THOC2_HUMAN
resolver
uniprot_sec
A6NM50
resolver
uniprot_sec
Q5JZ12
resolver
uniprot_sec
Q6IN92
resolver
uniprot_sec
Q9H8I6
resolver
amino_acid_sequence
MAAAAVVVPAEWIKNWEKSGRGEFLHLCRILSENKSHDSSTYRDFQQALYELSYHVIKGNLKHEQASNVLSDISEFREDMPSILADVFCILDIETNCLEEKSKRDYFTQLVLACLYLVSDTVLKERLDPETLESLGLIKQSQQFNQKSVKIKTKLFYKQQKFNLLREENEGYAKLIAELGQDLSGSITSDLILENIKSLIGCFNLDPNRVLDVILEVFECRPEHDDFFISLLESYMSMCEPQTLCHILGFKFKFYQEPNGETPSSLYRVAAVLLQFNLIDLDDLYVHLLPADNCIMDEHKREIAEAKQIVRKLTMVVLSSEKMDEREKEKEKEEEKVEKPPDNQKLGLLEALLKIGDWQHAQNIMDQMPPYYAASHKLIALAICKLIHITIEPLYRRVGVPKGAKGSPVNALQNKRAPKQAESFEDLRRDVFNMFCYLGPHLSHDPILFAKVVRIGKSFMKEFQSDGSKQEDKEKTEVILSCLLSITDQVLLPSLSLMDCNACMSEELWGMFKTFPYQHRYRLYGQWKNETYNSHPLLVKVKAQTIDRAKYIMKRLTKENVKPSGRQIGKLSHSNPTILFDYILSQIQKYDNLITPVVDSLKYLTSLNYDVLAYCIIEALANPEKERMKHDDTTISSWLQSLASFCGAVFRKYPIDLAGLLQYVANQLKAGKSFDLLILKEVVQKMAGIEITEEMTMEQLEAMTGGEQLKAEGGYFGQIRNTKKSSQRLKDALLDHDLALPLCLLMAQQRNGVIFQEGGEKHLKLVGKLYDQCHDTLVQFGGFLASNLSTEDYIKRVPSIDVLCNEFHTPHDAAFFLSRPMYAHHISSKYDELKKSEKGSKQQHKVHKYITSCEMVMAPVHEAVVSLHVSKVWDDISPQFYATFWSLTMYDLAVPHTSYEREVNKLKVQMKAIDDNQEMPPNKKKKEKERCTALQDKLLEEEKKQMEHVQRVLQRLKLEKDNWLLAKSTKNETITKFLQLCIFPRCIFSAIDAVYCARFVELVHQQKTPNFSTLLCYDRVFSDIIYTVASCTENEASRYGRFLCCMLETVTRWHSDRATYEKECGNYPGFLTILRATGFDGGNKADQLDYENFRHVVHKWHYKLTKASVHCLETGEYTHIRNILIVLTKILPWYPKVLNLGQALERRVHKICQEEKEKRPDLYALAMGYSGQLKSRKSYMIPENEFHHKDPPPRNAVASVQNGPGGGPSSSSIGSASKSDESSTEETDKSRERSQCGVKAVNKASSTTPKGNSSNGNSGSNSNKAVKENDKEKGKEKEKEKKEKTPATTPEARVLGKDGKEKPKEERPNKDEKARETKERTPKSDKEKEKFKKEEKAKDEKFKTTVPNAESKSTQEREREKEPSRERDIAKEMKSKENVKGGEKTPVSGSLKSPVPRSDIPEPEREQKRRKIDTHPSPSHSSTVKDSLIELKESSAKLYINHTPPPLSKSKEREMDKKDLDKSRERSREREKKDEKDRKERKRDHSNNDREVPPDLTKRRKEENGTMGVSKHKSESPCESPYPNEKDKEKNKSKSSGKEKGSDSFKSEKMDKISSGGKKESRHDKEKIEKKEKRDSSGGKEEKKHHKSSDKHR
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, X-linked, syndromic, Kumar type (MRXSK) [MIM:300957]: A form of intellectual disability, 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 forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. MRXSK patients manifest variable degrees of intellectual disability. Commonly observed features included speech delay, elevated BMI, short stature, seizure disorders, gait disturbance, and tremors. {ECO:0000269|PubMed:26166480, ECO:0000269|PubMed:29851191, ECO:0000269|PubMed:32116545}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Arthrogryposis multiplex congenita 7, X-linked (AMC7) [MIM:301127]: A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC7 is an X-linked recessive, severe form with onset in utero. Affected fetuses may also have subcutaneous edema and dysmorphic facial features. {ECO:0000269|PubMed:34976470, ECO:0000269|PubMed:37945483}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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:15998806, PubMed:17190602). Required for efficient export of polyadenylated RNA and spliced mRNA (PubMed:23222130). The THOC1-THOC2-THOC3 core complex alone is sufficient to bind export factor NXF1-NXT1 and promote ATPase activity of DDX39B; in the complex THOC2 is the only component that directly interacts with DDX39B (PubMed:33191911). TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NXF1 pathway (PubMed:15833825, PubMed:15998806, PubMed:17190602). Required for NXF1 localization to the nuclear rim (PubMed:22893130). THOC2 (and probably the THO complex) is involved in releasing mRNA from nuclear speckle domains. {ECO:0000269|PubMed:11979277, ECO:0000269|PubMed:15833825, ECO:0000269|PubMed:15998806, ECO:0000269|PubMed:17190602, ECO:0000269|PubMed:22893130, ECO:0000269|PubMed:23222130, ECO:0000269|PubMed:33191911}.; FUNCTION: (Microbial infection) The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. {ECO:0000269|PubMed:18974867}.
uniprot
proteins
mass_dalton
182775
uniprot
proteins
mutagenesis
MUTAGEN 551..558; /note="YIMKRLTK->AIMSSLTS: Impairs interaction with DDX39B. Abolishes interaction with DDX39B; when associated with 589-A--A-592."; /evidence="ECO:0000269|PubMed:33191911"; MUTAGEN 589..592; /note="KYDN->ASDA: Impairs interaction with DDX39B. Abolishes interaction with DDX39B; when associated with 551-A--S-558."; /evidence="ECO:0000269|PubMed:33191911
uniprot
proteins
protein_family
THOC2 family
uniprot
proteins
pubmed
11979277
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
15833825
uniprot
proteins
pubmed
15870275
uniprot
proteins
pubmed
15998806
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17190602
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18974867
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22893130
uniprot
proteins
pubmed
22928037
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23222130
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26166480
uniprot
proteins
pubmed
29851191
uniprot
proteins
pubmed
32116545
uniprot
proteins
pubmed
33191911
uniprot
proteins
pubmed
34976470
uniprot
proteins
pubmed
37020021
uniprot
proteins
pubmed
37945483
uniprot
proteins
sequence_length
1593
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:29851191}. Nucleus speckle {ECO:0000305}. Cytoplasm {ECO:0000269|PubMed:29851191}.
uniprot
proteins