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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)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi255 – 32369HMG boxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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
ProteomesiUP000005640 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

PharmGKBiPA162406727.

Polymorphism and mutation databases

BioMutaiTOX2.
DMDMi24211591.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 488488TOX high mobility group box family member 2PRO_0000048571Add
BLAST

Proteomic databases

MaxQBiQ96NM4.
PaxDbiQ96NM4.
PRIDEiQ96NM4.

PTM databases

PhosphoSiteiQ96NM4.

Expressioni

Gene expression databases

BgeeiQ96NM4.
CleanExiHS_TOX2.
ExpressionAtlasiQ96NM4. baseline and differential.
GenevisibleiQ96NM4. HS.

Organism-specific databases

HPAiHPA049900.
HPA058396.

Interactioni

Protein-protein interaction databases

BioGridi124399. 1 interaction.
IntActiQ96NM4. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ96NM4.
SMRiQ96NM4. Positions 251-302.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni76 – 11439Required for transcriptional activationBy similarityAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi223 – 25230Nuclear localization signalBy similarityAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi245 – 2506Poly-Lys
Compositional biasi372 – 45685Pro-richAdd
BLAST

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiNOG291143.
GeneTreeiENSGT00560000076898.
HOGENOMiHOG000230949.
HOVERGENiHBG051183.
InParanoidiQ96NM4.
OMAiDHEASYH.
OrthoDBiEOG7R834J.
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti372 – 3721P → PP in BAF82595 (PubMed:14702039).Curated
Sequence conflicti482 – 4821D → N in BAB70860 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti223 – 2231V → A.
Corresponds to variant rs6103584 [ dbSNP | Ensembl ].
VAR_049560

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 5151Missing in isoform 3. 1 PublicationVSP_045645Add
BLAST
Alternative sequencei1 – 4141MQQTR…GVFPQ → MDVRLYPSAPAVGARPGAEP AGLAHLDYYHGG in isoform 4. CuratedVSP_047108Add
BLAST
Alternative sequencei302 – 3021Q → QAYKRKTEAAKKEYLKALAA YRASLVSK in isoform 2, isoform 3 and isoform 4. 2 PublicationsVSP_002187

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.
ENST00000372999; ENSP00000362090; ENSG00000124191. [Q96NM4-3]
ENST00000423191; ENSP00000390278; ENSG00000124191. [Q96NM4-3]
GeneIDi84969.
KEGGihsa:84969.
UCSCiuc002xle.4. human.
uc002xlf.4. human. [Q96NM4-1]
uc010ggo.3. human.

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. Positions 251-302.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124399. 1 interaction.
IntActiQ96NM4. 1 interaction.

PTM databases

PhosphoSiteiQ96NM4.

Polymorphism and mutation databases

BioMutaiTOX2.
DMDMi24211591.

Proteomic databases

MaxQBiQ96NM4.
PaxDbiQ96NM4.
PRIDEiQ96NM4.

Protocols and materials databases

DNASUi84969.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000341197; ENSP00000344724; ENSG00000124191. [Q96NM4-4]
ENST00000358131; ENSP00000350849; ENSG00000124191.
ENST00000372999; ENSP00000362090; ENSG00000124191. [Q96NM4-3]
ENST00000423191; ENSP00000390278; ENSG00000124191. [Q96NM4-3]
GeneIDi84969.
KEGGihsa:84969.
UCSCiuc002xle.4. human.
uc002xlf.4. human. [Q96NM4-1]
uc010ggo.3. human.

Organism-specific databases

CTDi84969.
GeneCardsiGC20P042543.
HGNCiHGNC:16095. TOX2.
HPAiHPA049900.
HPA058396.
MIMi611163. gene.
neXtProtiNX_Q96NM4.
PharmGKBiPA162406727.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG291143.
GeneTreeiENSGT00560000076898.
HOGENOMiHOG000230949.
HOVERGENiHBG051183.
InParanoidiQ96NM4.
OMAiDHEASYH.
OrthoDBiEOG7R834J.
PhylomeDBiQ96NM4.
TreeFamiTF106481.

Miscellaneous databases

ChiTaRSiTOX2. human.
GenomeRNAii84969.
NextBioi35463834.
PROiQ96NM4.
SOURCEiSearch...

Gene expression databases

BgeeiQ96NM4.
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...

Publicationsi

  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
    Tissue: Brain and Corpus callosum.
  2. "The DNA sequence and comparative analysis of human chromosome 20."
    Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
    , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
    Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Muscle.

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: July 22, 2015
This is version 129 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

External Data

Dasty 3

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 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.