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Protein

TOX high mobility group box family member 2

Gene

TOX2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

Putative transcriptional activator involved in the hypothalamo-pituitary-gonadal system.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi255 – 323HMG boxPROSITE-ProRule annotationAdd BLAST69

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000124191-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
TOX high mobility group box family member 2
Alternative name(s):
Granulosa cell HMG box protein 1
Short name:
GCX-1
Gene namesi
Name:TOX2
Synonyms:C20orf100, GCX1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:16095. TOX2.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi84969.
OpenTargetsiENSG00000124191.
PharmGKBiPA162406727.

Polymorphism and mutation databases

BioMutaiTOX2.
DMDMi24211591.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000485711 – 488TOX high mobility group box family member 2Add BLAST488

Proteomic databases

MaxQBiQ96NM4.
PeptideAtlasiQ96NM4.
PRIDEiQ96NM4.

PTM databases

iPTMnetiQ96NM4.
PhosphoSitePlusiQ96NM4.

Expressioni

Gene expression databases

BgeeiENSG00000124191.
CleanExiHS_TOX2.
ExpressionAtlasiQ96NM4. baseline and differential.
GenevisibleiQ96NM4. HS.

Organism-specific databases

HPAiHPA049900.
HPA058396.

Interactioni

Protein-protein interaction databases

BioGridi124399. 5 interactors.
IntActiQ96NM4. 1 interactor.

Structurei

3D structure databases

ProteinModelPortaliQ96NM4.
SMRiQ96NM4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni76 – 114Required for transcriptional activationBy similarityAdd BLAST39

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi223 – 252Nuclear localization signalBy similarityAdd BLAST30

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi245 – 250Poly-Lys6
Compositional biasi372 – 456Pro-richAdd BLAST85

Sequence similaritiesi

Contains 1 HMG box DNA-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

GeneTreeiENSGT00560000076898.
HOGENOMiHOG000230949.
HOVERGENiHBG051183.
InParanoidiQ96NM4.
OMAiDHEASYH.
OrthoDBiEOG091G0CPH.
PhylomeDBiQ96NM4.
TreeFamiTF106481.

Family and domain databases

Gene3Di1.10.30.10. 1 hit.
InterProiIPR009071. HMG_box_dom.
[Graphical view]
PfamiPF00505. HMG_box. 1 hit.
[Graphical view]
SMARTiSM00398. HMG. 1 hit.
[Graphical view]
SUPFAMiSSF47095. SSF47095. 1 hit.
PROSITEiPS50118. HMG_BOX_2. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96NM4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MQQTRTEAVA GAFSRCLGFC GMRLGLLLLA RHWCIAGVFP QKFDGDSAYV
60 70 80 90 100
GMSDGNPELL STSQTYNGQS ENNEDYEIPP ITPPNLPEPS LLHLGDHEAS
110 120 130 140 150
YHSLCHGLTP NGLLPAYSYQ AMDLPAIMVS NMLAQDSHLL SGQLPTIQEM
160 170 180 190 200
VHSEVAAYDS GRPGPLLGRP AMLASHMSAL SQSQLISQMG IRSSIAHSSP
210 220 230 240 250
SPPGSKSATP SPSSSTQEEE SEVHFKISGE KRPSADPGKK AKNPKKKKKK
260 270 280 290 300
DPNEPQKPVS AYALFFRDTQ AAIKGQNPSA TFGDVSKIVA SMWDSLGEEQ
310 320 330 340 350
KQSSPDQGET KSTQANPPAK MLPPKQPMYA MPGLASFLTP SDLQAFRSGA
360 370 380 390 400
SPASLARTLG SKSLLPGLSA SPPPPPSFPL SPTLHQQLSL PPHAQGALLS
410 420 430 440 450
PPVSMSPAPQ PPVLPTPMAL QVQLAMSPSP PGPQDFPHIS EFPSSSGSCS
460 470 480
PGPSNPTSSG DWDSSYPSGE CGISTCSLLP RDKSLYLT
Length:488
Mass (Da):51,604
Last modified:October 19, 2002 - v2
Checksum:i687FD144CF30731A
GO
Isoform 2 (identifier: Q96NM4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     302-302: Q → QAYKRKTEAAKKEYLKALAAYRASLVSK

Note: No experimental confirmation available.
Show »
Length:515
Mass (Da):54,645
Checksum:i5B9ED0A9228B1449
GO
Isoform 3 (identifier: Q96NM4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-51: Missing.
     302-302: Q → QAYKRKTEAAKKEYLKALAAYRASLVSK

Note: No experimental confirmation available.
Show »
Length:464
Mass (Da):49,112
Checksum:i07E22E3F3E8D782A
GO
Isoform 4 (identifier: Q96NM4-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-41: MQQTRTEAVAGAFSRCLGFCGMRLGLLLLARHWCIAGVFPQ → MDVRLYPSAPAVGARPGAEPAGLAHLDYYHGG
     302-302: Q → QAYKRKTEAAKKEYLKALAAYRASLVSK

Show »
Length:506
Mass (Da):53,444
Checksum:iE5B3941DAA4E8536
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti372P → PP in BAF82595 (PubMed:14702039).Curated1
Sequence conflicti482D → N in BAB70860 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_049560223V → A.Corresponds to variant rs6103584dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0456451 – 51Missing in isoform 3. 1 PublicationAdd BLAST51
Alternative sequenceiVSP_0471081 – 41MQQTR…GVFPQ → MDVRLYPSAPAVGARPGAEP AGLAHLDYYHGG in isoform 4. CuratedAdd BLAST41
Alternative sequenceiVSP_002187302Q → QAYKRKTEAAKKEYLKALAA YRASLVSK in isoform 2, isoform 3 and isoform 4. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK055135 mRNA. Translation: BAB70860.1.
AK289906 mRNA. Translation: BAF82595.1.
AL121587, AL034419 Genomic DNA. Translation: CAI21559.1.
AL121587, AL034419 Genomic DNA. Translation: CAI21560.1.
AL121587, AL034419 Genomic DNA. Translation: CAI21561.1.
AL034419, AL121587 Genomic DNA. Translation: CAI42198.1.
AL034419, AL121587 Genomic DNA. Translation: CAI42200.1.
AL034419, AL121587 Genomic DNA. Translation: CAI42201.1.
AL035089 Genomic DNA. No translation available.
AL353797 Genomic DNA. No translation available.
CH471077 Genomic DNA. Translation: EAW75944.1.
CH471077 Genomic DNA. Translation: EAW75945.1.
CH471077 Genomic DNA. Translation: EAW75946.1.
BC007636 mRNA. No translation available.
CCDSiCCDS13324.1. [Q96NM4-3]
CCDS42875.1. [Q96NM4-1]
CCDS46603.1. [Q96NM4-4]
RefSeqiNP_001092266.1. NM_001098796.1. [Q96NM4-3]
NP_001092267.1. NM_001098797.1. [Q96NM4-4]
NP_001092268.1. NM_001098798.1. [Q96NM4-1]
NP_116272.1. NM_032883.2. [Q96NM4-3]
XP_006723947.1. XM_006723884.1. [Q96NM4-2]
UniGeneiHs.26608.

Genome annotation databases

EnsembliENST00000341197; ENSP00000344724; ENSG00000124191. [Q96NM4-4]
ENST00000358131; ENSP00000350849; ENSG00000124191. [Q96NM4-1]
ENST00000372999; ENSP00000362090; ENSG00000124191. [Q96NM4-3]
ENST00000423191; ENSP00000390278; ENSG00000124191. [Q96NM4-3]
GeneIDi84969.
KEGGihsa:84969.
UCSCiuc002xle.5. human. [Q96NM4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK055135 mRNA. Translation: BAB70860.1.
AK289906 mRNA. Translation: BAF82595.1.
AL121587, AL034419 Genomic DNA. Translation: CAI21559.1.
AL121587, AL034419 Genomic DNA. Translation: CAI21560.1.
AL121587, AL034419 Genomic DNA. Translation: CAI21561.1.
AL034419, AL121587 Genomic DNA. Translation: CAI42198.1.
AL034419, AL121587 Genomic DNA. Translation: CAI42200.1.
AL034419, AL121587 Genomic DNA. Translation: CAI42201.1.
AL035089 Genomic DNA. No translation available.
AL353797 Genomic DNA. No translation available.
CH471077 Genomic DNA. Translation: EAW75944.1.
CH471077 Genomic DNA. Translation: EAW75945.1.
CH471077 Genomic DNA. Translation: EAW75946.1.
BC007636 mRNA. No translation available.
CCDSiCCDS13324.1. [Q96NM4-3]
CCDS42875.1. [Q96NM4-1]
CCDS46603.1. [Q96NM4-4]
RefSeqiNP_001092266.1. NM_001098796.1. [Q96NM4-3]
NP_001092267.1. NM_001098797.1. [Q96NM4-4]
NP_001092268.1. NM_001098798.1. [Q96NM4-1]
NP_116272.1. NM_032883.2. [Q96NM4-3]
XP_006723947.1. XM_006723884.1. [Q96NM4-2]
UniGeneiHs.26608.

3D structure databases

ProteinModelPortaliQ96NM4.
SMRiQ96NM4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124399. 5 interactors.
IntActiQ96NM4. 1 interactor.

PTM databases

iPTMnetiQ96NM4.
PhosphoSitePlusiQ96NM4.

Polymorphism and mutation databases

BioMutaiTOX2.
DMDMi24211591.

Proteomic databases

MaxQBiQ96NM4.
PeptideAtlasiQ96NM4.
PRIDEiQ96NM4.

Protocols and materials databases

DNASUi84969.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000341197; ENSP00000344724; ENSG00000124191. [Q96NM4-4]
ENST00000358131; ENSP00000350849; ENSG00000124191. [Q96NM4-1]
ENST00000372999; ENSP00000362090; ENSG00000124191. [Q96NM4-3]
ENST00000423191; ENSP00000390278; ENSG00000124191. [Q96NM4-3]
GeneIDi84969.
KEGGihsa:84969.
UCSCiuc002xle.5. human. [Q96NM4-1]

Organism-specific databases

CTDi84969.
DisGeNETi84969.
GeneCardsiTOX2.
HGNCiHGNC:16095. TOX2.
HPAiHPA049900.
HPA058396.
MIMi611163. gene.
neXtProtiNX_Q96NM4.
OpenTargetsiENSG00000124191.
PharmGKBiPA162406727.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00560000076898.
HOGENOMiHOG000230949.
HOVERGENiHBG051183.
InParanoidiQ96NM4.
OMAiDHEASYH.
OrthoDBiEOG091G0CPH.
PhylomeDBiQ96NM4.
TreeFamiTF106481.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000124191-MONOMER.

Miscellaneous databases

ChiTaRSiTOX2. human.
GenomeRNAii84969.
PROiQ96NM4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000124191.
CleanExiHS_TOX2.
ExpressionAtlasiQ96NM4. baseline and differential.
GenevisibleiQ96NM4. HS.

Family and domain databases

Gene3Di1.10.30.10. 1 hit.
InterProiIPR009071. HMG_box_dom.
[Graphical view]
PfamiPF00505. HMG_box. 1 hit.
[Graphical view]
SMARTiSM00398. HMG. 1 hit.
[Graphical view]
SUPFAMiSSF47095. SSF47095. 1 hit.
PROSITEiPS50118. HMG_BOX_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTOX2_HUMAN
AccessioniPrimary (citable) accession number: Q96NM4
Secondary accession number(s): A8K1J1
, E1P5X0, G3XAC7, Q5TE33, Q5TE34, Q5TE35, Q96IC9, Q9BQN5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 19, 2002
Last sequence update: October 19, 2002
Last modified: November 2, 2016
This is version 140 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Caution

It is uncertain whether Met-1 or Met-52 is the initiator.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.