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Entry version 148 (16 Oct 2019)
Sequence version 2 (22 Sep 2009)
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Protein

THO complex subunit 2

Gene

THOC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Required for efficient export of polyadenylated RNA and spliced mRNA. Acts as 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. 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/NFX1 pathway. The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. THOC2 (and probably the THO complex) is involved in releasing mRNA from nuclear speckle domains. Required for NXF1 localization to the nuclear rim. Plays a role for proper neuronal development.8 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • mRNA binding Source: GO_Central

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionRNA-binding
Biological processmRNA processing, mRNA splicing, mRNA transport, Transport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-72187 mRNA 3'-end processing
R-HSA-73856 RNA Polymerase II Transcription Termination

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
THO complex subunit 2
Short name:
Tho2
Alternative name(s):
hTREX120
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:THOC2
Synonyms:CXorf3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:19073 THOC2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
300395 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NI27

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Mental retardation, X-linked 12 (MRX12)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_075718313L → F in MRX12. 1 PublicationCorresponds to variant dbSNP:rs797045019EnsemblClinVar.1
Natural variantiVAR_075719438L → P in MRX12; reduced amounts of protein; reduced amounts of other THO complex subunits; the mutant protein has a significantly shorter half-life. 1 PublicationCorresponds to variant dbSNP:rs797045018EnsemblClinVar.1
Natural variantiVAR_075720800I → T in MRX12; reduced amounts of mutant protein; reduced amounts of other THO complex subunits; the mutant protein has a significantly shorter half-life. 1 PublicationCorresponds to variant dbSNP:rs797045021EnsemblClinVar.1
Natural variantiVAR_0757211012S → P in MRX12; normal amounts of mutant protein; normal amounts of other THO complex subunits. 1 PublicationCorresponds to variant dbSNP:rs797045020EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
57187

MalaCards human disease database

More...
MalaCardsi
THOC2
MIMi300957 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000125676

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
457240 X-linked intellectual disability-short stature-overweight syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA128395788

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8NI27

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
THOC2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
259016155

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000725231 – 1593THO complex subunit 2Add BLAST1593

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1222PhosphoserineBy similarity1
Modified residuei1385PhosphothreonineCombined sources1
Modified residuei1390PhosphoserineCombined sources1
Modified residuei1393PhosphoserineCombined sources1
Modified residuei1417PhosphoserineCombined sources1
Modified residuei1443PhosphothreonineCombined sources1
Modified residuei1450PhosphoserineCombined sources1
Modified residuei1486PhosphoserineCombined sources1
Modified residuei1516PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8NI27

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8NI27

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8NI27

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8NI27

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q8NI27

PeptideAtlas

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PeptideAtlasi
Q8NI27

PRoteomics IDEntifications database

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PRIDEi
Q8NI27

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
73816 [Q8NI27-1]
73817 [Q8NI27-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8NI27

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8NI27

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q8NI27

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in the hippocampus and the cerebral cortex.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000125676 Expressed in 233 organ(s), highest expression level in secondary oocyte

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8NI27 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8NI27 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA047921

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the THO complex, which is composed of THOC1, THOC2, THOC3, THOC5, THOC6 and THOC7; together with at least ALYREF/THOC4, DDX39B, SARNP/CIP29 and CHTOP, THO forms the transcription/export (TREX) complex which seems to have a dynamic structure involving ATP-dependent remodeling.

Interacts with THOC1, POLDIP3 and ZC3H11A.

5 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
121436, 114 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q8NI27

Protein interaction database and analysis system

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IntActi
Q8NI27, 91 interactors

Molecular INTeraction database

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MINTi
Q8NI27

STRING: functional protein association networks

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STRINGi
9606.ENSP00000245838

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q8NI27

Database of comparative protein structure models

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ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili293 – 339Sequence analysisAdd BLAST47
Coiled coili896 – 965Sequence analysisAdd BLAST70
Coiled coili1464 – 1491Sequence analysisAdd BLAST28

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi923 – 928Nuclear localization signalSequence analysis6

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1264 – 1591Lys-richAdd BLAST328

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the THOC2 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1874 Eukaryota
ENOG410XQ2A LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00710000106792

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000048227

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8NI27

KEGG Orthology (KO)

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KOi
K12879

Identification of Orthologs from Complete Genome Data

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OMAi
PVCDMLK

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8NI27

TreeFam database of animal gene trees

More...
TreeFami
TF313127

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR040007 Tho2
IPR021418 THO_THOC2_C
IPR021726 THO_THOC2_N
IPR032302 THOC2_N

The PANTHER Classification System

More...
PANTHERi
PTHR21597 PTHR21597, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF11262 Tho2, 1 hit
PF11732 Thoc2, 1 hit
PF16134 THOC2_N, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NI27-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAAAAVVVPA EWIKNWEKSG RGEFLHLCRI LSENKSHDSS TYRDFQQALY
60 70 80 90 100
ELSYHVIKGN LKHEQASNVL SDISEFREDM PSILADVFCI LDIETNCLEE
110 120 130 140 150
KSKRDYFTQL VLACLYLVSD TVLKERLDPE TLESLGLIKQ SQQFNQKSVK
160 170 180 190 200
IKTKLFYKQQ KFNLLREENE GYAKLIAELG QDLSGSITSD LILENIKSLI
210 220 230 240 250
GCFNLDPNRV LDVILEVFEC RPEHDDFFIS LLESYMSMCE PQTLCHILGF
260 270 280 290 300
KFKFYQEPNG ETPSSLYRVA AVLLQFNLID LDDLYVHLLP ADNCIMDEHK
310 320 330 340 350
REIAEAKQIV RKLTMVVLSS EKMDEREKEK EKEEEKVEKP PDNQKLGLLE
360 370 380 390 400
ALLKIGDWQH AQNIMDQMPP YYAASHKLIA LAICKLIHIT IEPLYRRVGV
410 420 430 440 450
PKGAKGSPVN ALQNKRAPKQ AESFEDLRRD VFNMFCYLGP HLSHDPILFA
460 470 480 490 500
KVVRIGKSFM KEFQSDGSKQ EDKEKTEVIL SCLLSITDQV LLPSLSLMDC
510 520 530 540 550
NACMSEELWG MFKTFPYQHR YRLYGQWKNE TYNSHPLLVK VKAQTIDRAK
560 570 580 590 600
YIMKRLTKEN VKPSGRQIGK LSHSNPTILF DYILSQIQKY DNLITPVVDS
610 620 630 640 650
LKYLTSLNYD VLAYCIIEAL ANPEKERMKH DDTTISSWLQ SLASFCGAVF
660 670 680 690 700
RKYPIDLAGL LQYVANQLKA GKSFDLLILK EVVQKMAGIE ITEEMTMEQL
710 720 730 740 750
EAMTGGEQLK AEGGYFGQIR NTKKSSQRLK DALLDHDLAL PLCLLMAQQR
760 770 780 790 800
NGVIFQEGGE KHLKLVGKLY DQCHDTLVQF GGFLASNLST EDYIKRVPSI
810 820 830 840 850
DVLCNEFHTP HDAAFFLSRP MYAHHISSKY DELKKSEKGS KQQHKVHKYI
860 870 880 890 900
TSCEMVMAPV HEAVVSLHVS KVWDDISPQF YATFWSLTMY DLAVPHTSYE
910 920 930 940 950
REVNKLKVQM KAIDDNQEMP PNKKKKEKER CTALQDKLLE EEKKQMEHVQ
960 970 980 990 1000
RVLQRLKLEK DNWLLAKSTK NETITKFLQL CIFPRCIFSA IDAVYCARFV
1010 1020 1030 1040 1050
ELVHQQKTPN FSTLLCYDRV FSDIIYTVAS CTENEASRYG RFLCCMLETV
1060 1070 1080 1090 1100
TRWHSDRATY EKECGNYPGF LTILRATGFD GGNKADQLDY ENFRHVVHKW
1110 1120 1130 1140 1150
HYKLTKASVH CLETGEYTHI RNILIVLTKI LPWYPKVLNL GQALERRVHK
1160 1170 1180 1190 1200
ICQEEKEKRP DLYALAMGYS GQLKSRKSYM IPENEFHHKD PPPRNAVASV
1210 1220 1230 1240 1250
QNGPGGGPSS SSIGSASKSD ESSTEETDKS RERSQCGVKA VNKASSTTPK
1260 1270 1280 1290 1300
GNSSNGNSGS NSNKAVKEND KEKGKEKEKE KKEKTPATTP EARVLGKDGK
1310 1320 1330 1340 1350
EKPKEERPNK DEKARETKER TPKSDKEKEK FKKEEKAKDE KFKTTVPNAE
1360 1370 1380 1390 1400
SKSTQERERE KEPSRERDIA KEMKSKENVK GGEKTPVSGS LKSPVPRSDI
1410 1420 1430 1440 1450
PEPEREQKRR KIDTHPSPSH SSTVKDSLIE LKESSAKLYI NHTPPPLSKS
1460 1470 1480 1490 1500
KEREMDKKDL DKSRERSRER EKKDEKDRKE RKRDHSNNDR EVPPDLTKRR
1510 1520 1530 1540 1550
KEENGTMGVS KHKSESPCES PYPNEKDKEK NKSKSSGKEK GSDSFKSEKM
1560 1570 1580 1590
DKISSGGKKE SRHDKEKIEK KEKRDSSGGK EEKKHHKSSD KHR
Length:1,593
Mass (Da):182,775
Last modified:September 22, 2009 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA869B3E412CA4356
GO
Isoform 2 (identifier: Q8NI27-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1179: Missing.

Note: No experimental confirmation available.
Show »
Length:414
Mass (Da):46,812
Checksum:i2ECC3FEF7EE2607D
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y815H0Y815_HUMAN
THO complex subunit 2
THOC2
379Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0C4DG98A0A0C4DG98_HUMAN
THO complex subunit 2
THOC2
1,478Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C477H7C477_HUMAN
THO complex subunit 2
THOC2
165Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B7ZBA0B7ZBA0_HUMAN
THO complex subunit 2
THOC2
180Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y594H0Y594_HUMAN
THO complex subunit 2
THOC2
189Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y7U4H0Y7U4_HUMAN
THO complex subunit 2
THOC2
388Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B7ZB98B7ZB98_HUMAN
THO complex subunit 2
THOC2
84Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F2Z2V2F2Z2V2_HUMAN
THO complex subunit 2
THOC2
120Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAM28436 differs from that shown. Contaminating sequence. Sequence of unknown origin in the N-terminal part.Curated
The sequence BAB14630 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti807F → S in BAB14630 (PubMed:14702039).Curated1
Sequence conflicti1276E → G in CAE46196 (PubMed:17974005).Curated1
Sequence conflicti1356E → K in CAE46196 (PubMed:17974005).Curated1
Sequence conflicti1426 – 1429DSLI → VSIA in CAE46196 (PubMed:17974005).Curated4

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075718313L → F in MRX12. 1 PublicationCorresponds to variant dbSNP:rs797045019EnsemblClinVar.1
Natural variantiVAR_075719438L → P in MRX12; reduced amounts of protein; reduced amounts of other THO complex subunits; the mutant protein has a significantly shorter half-life. 1 PublicationCorresponds to variant dbSNP:rs797045018EnsemblClinVar.1
Natural variantiVAR_075720800I → T in MRX12; reduced amounts of mutant protein; reduced amounts of other THO complex subunits; the mutant protein has a significantly shorter half-life. 1 PublicationCorresponds to variant dbSNP:rs797045021EnsemblClinVar.1
Natural variantiVAR_0757211012S → P in MRX12; normal amounts of mutant protein; normal amounts of other THO complex subunits. 1 PublicationCorresponds to variant dbSNP:rs797045020EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0085881 – 1179Missing in isoform 2. 1 PublicationAdd BLAST1179

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AL030996, AL023575, Z82901 Genomic DNA Translation: CAI42271.2
Z82901, AL023575, AL030996 Genomic DNA Translation: CAI42864.2
AL023575, AL030996, Z82901 Genomic DNA Translation: CAO03594.1
BC072400 mRNA Translation: AAH72400.1
AF441770 mRNA Translation: AAM28436.1 Sequence problems.
AK023659 mRNA Translation: BAB14630.1 Different initiation.
BX648654 mRNA Translation: CAE46196.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS43988.1 [Q8NI27-1]

NCBI Reference Sequences

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RefSeqi
NP_001075019.1, NM_001081550.1 [Q8NI27-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000245838; ENSP00000245838; ENSG00000125676 [Q8NI27-1]
ENST00000355725; ENSP00000347959; ENSG00000125676 [Q8NI27-1]
ENST00000618150; ENSP00000480478; ENSG00000125676 [Q8NI27-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
57187

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:57187

UCSC genome browser

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UCSCi
uc004etu.4 human [Q8NI27-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL030996, AL023575, Z82901 Genomic DNA Translation: CAI42271.2
Z82901, AL023575, AL030996 Genomic DNA Translation: CAI42864.2
AL023575, AL030996, Z82901 Genomic DNA Translation: CAO03594.1
BC072400 mRNA Translation: AAH72400.1
AF441770 mRNA Translation: AAM28436.1 Sequence problems.
AK023659 mRNA Translation: BAB14630.1 Different initiation.
BX648654 mRNA Translation: CAE46196.1
CCDSiCCDS43988.1 [Q8NI27-1]
RefSeqiNP_001075019.1, NM_001081550.1 [Q8NI27-1]

3D structure databases

SMRiQ8NI27
ModBaseiSearch...

Protein-protein interaction databases

BioGridi121436, 114 interactors
CORUMiQ8NI27
IntActiQ8NI27, 91 interactors
MINTiQ8NI27
STRINGi9606.ENSP00000245838

PTM databases

iPTMnetiQ8NI27
PhosphoSitePlusiQ8NI27
SwissPalmiQ8NI27

Polymorphism and mutation databases

BioMutaiTHOC2
DMDMi259016155

Proteomic databases

EPDiQ8NI27
jPOSTiQ8NI27
MassIVEiQ8NI27
MaxQBiQ8NI27
PaxDbiQ8NI27
PeptideAtlasiQ8NI27
PRIDEiQ8NI27
ProteomicsDBi73816 [Q8NI27-1]
73817 [Q8NI27-2]

Genome annotation databases

EnsembliENST00000245838; ENSP00000245838; ENSG00000125676 [Q8NI27-1]
ENST00000355725; ENSP00000347959; ENSG00000125676 [Q8NI27-1]
ENST00000618150; ENSP00000480478; ENSG00000125676 [Q8NI27-2]
GeneIDi57187
KEGGihsa:57187
UCSCiuc004etu.4 human [Q8NI27-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
57187
DisGeNETi57187

GeneCards: human genes, protein and diseases

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GeneCardsi
THOC2
HGNCiHGNC:19073 THOC2
HPAiHPA047921
MalaCardsiTHOC2
MIMi300395 gene
300957 phenotype
neXtProtiNX_Q8NI27
OpenTargetsiENSG00000125676
Orphaneti457240 X-linked intellectual disability-short stature-overweight syndrome
PharmGKBiPA128395788

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1874 Eukaryota
ENOG410XQ2A LUCA
GeneTreeiENSGT00710000106792
HOGENOMiHOG000048227
InParanoidiQ8NI27
KOiK12879
OMAiPVCDMLK
PhylomeDBiQ8NI27
TreeFamiTF313127

Enzyme and pathway databases

ReactomeiR-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-72187 mRNA 3'-end processing
R-HSA-73856 RNA Polymerase II Transcription Termination

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
THOC2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
THOC2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
57187
PharosiQ8NI27

Protein Ontology

More...
PROi
PR:Q8NI27

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000125676 Expressed in 233 organ(s), highest expression level in secondary oocyte
ExpressionAtlasiQ8NI27 baseline and differential
GenevisibleiQ8NI27 HS

Family and domain databases

InterProiView protein in InterPro
IPR040007 Tho2
IPR021418 THO_THOC2_C
IPR021726 THO_THOC2_N
IPR032302 THOC2_N
PANTHERiPTHR21597 PTHR21597, 1 hit
PfamiView protein in Pfam
PF11262 Tho2, 1 hit
PF11732 Thoc2, 1 hit
PF16134 THOC2_N, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTHOC2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8NI27
Secondary accession number(s): A6NM50
, Q5JZ12, Q6IN92, Q9H8I6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 10, 2003
Last sequence update: September 22, 2009
Last modified: October 16, 2019
This is version 148 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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