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Q96NM4

- TOX2_HUMAN

UniProt

Q96NM4 - TOX2_HUMAN

Protein

TOX high mobility group box family member 2

Gene

TOX2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
    • BLAST
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    • History
      Entry version 120 (01 Oct 2014)
      Sequence version 2 (19 Oct 2002)
      Previous versions | rss
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    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

    1. DNA binding Source: UniProtKB-KW

    GO - Biological processi

    1. female gonad development Source: Ensembl
    2. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
    3. response to gonadotropin Source: Ensembl
    4. transcription, DNA-templated Source: UniProtKB-KW

    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: Chromosome 20

    Organism-specific databases

    HGNCiHGNC:16095. TOX2.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162406727.

    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

    ArrayExpressiQ96NM4.
    BgeeiQ96NM4.
    CleanExiHS_TOX2.
    GenevestigatoriQ96NM4.

    Organism-specific databases

    HPAiHPA049900.

    Interactioni

    Protein-protein interaction databases

    BioGridi124399. 3 interactions.
    IntActiQ96NM4. 1 interaction.
    STRINGi9606.ENSP00000344724.

    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.
    HOGENOMiHOG000230949.
    HOVERGENiHBG051183.
    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. Align

    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

    MQQTRTEAVA GAFSRCLGFC GMRLGLLLLA RHWCIAGVFP QKFDGDSAYV    50
    GMSDGNPELL STSQTYNGQS ENNEDYEIPP ITPPNLPEPS LLHLGDHEAS 100
    YHSLCHGLTP NGLLPAYSYQ AMDLPAIMVS NMLAQDSHLL SGQLPTIQEM 150
    VHSEVAAYDS GRPGPLLGRP AMLASHMSAL SQSQLISQMG IRSSIAHSSP 200
    SPPGSKSATP SPSSSTQEEE SEVHFKISGE KRPSADPGKK AKNPKKKKKK 250
    DPNEPQKPVS AYALFFRDTQ AAIKGQNPSA TFGDVSKIVA SMWDSLGEEQ 300
    KQSSPDQGET KSTQANPPAK MLPPKQPMYA MPGLASFLTP SDLQAFRSGA 350
    SPASLARTLG SKSLLPGLSA SPPPPPSFPL SPTLHQQLSL PPHAQGALLS 400
    PPVSMSPAPQ PPVLPTPMAL QVQLAMSPSP PGPQDFPHIS EFPSSSGSCS 450
    PGPSNPTSSG DWDSSYPSGE CGISTCSLLP RDKSLYLT 488
    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:
    EMBL
    GenBank
    DDBJ
    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

    GeneIDi84969.
    KEGGihsa:84969.
    UCSCiuc002xle.4. human.
    uc002xlf.4. human. [Q96NM4-1]
    uc010ggo.3. human.

    Polymorphism databases

    DMDMi24211591.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    CCDSi CCDS13324.1. [Q96NM4-3 ]
    CCDS42875.1. [Q96NM4-1 ]
    CCDS46603.1. [Q96NM4-4 ]
    RefSeqi NP_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 ]
    UniGenei Hs.26608.

    3D structure databases

    ProteinModelPortali Q96NM4.
    SMRi Q96NM4. Positions 251-302.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124399. 3 interactions.
    IntActi Q96NM4. 1 interaction.
    STRINGi 9606.ENSP00000344724.

    PTM databases

    PhosphoSitei Q96NM4.

    Polymorphism databases

    DMDMi 24211591.

    Proteomic databases

    MaxQBi Q96NM4.
    PaxDbi Q96NM4.
    PRIDEi Q96NM4.

    Protocols and materials databases

    DNASUi 84969.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    GeneIDi 84969.
    KEGGi hsa:84969.
    UCSCi uc002xle.4. human.
    uc002xlf.4. human. [Q96NM4-1 ]
    uc010ggo.3. human.

    Organism-specific databases

    CTDi 84969.
    GeneCardsi GC20P042543.
    HGNCi HGNC:16095. TOX2.
    HPAi HPA049900.
    MIMi 611163. gene.
    neXtProti NX_Q96NM4.
    PharmGKBi PA162406727.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG291143.
    HOGENOMi HOG000230949.
    HOVERGENi HBG051183.
    OMAi DHEASYH.
    OrthoDBi EOG7R834J.
    PhylomeDBi Q96NM4.
    TreeFami TF106481.

    Miscellaneous databases

    GenomeRNAii 84969.
    NextBioi 35463834.
    PROi Q96NM4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96NM4.
    Bgeei Q96NM4.
    CleanExi HS_TOX2.
    Genevestigatori Q96NM4.

    Family and domain databases

    Gene3Di 1.10.30.10. 1 hit.
    InterProi IPR009071. HMG_box_dom.
    [Graphical view ]
    Pfami PF00505. HMG_box. 1 hit.
    [Graphical view ]
    SMARTi SM00398. HMG. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47095. SSF47095. 1 hit.
    PROSITEi PS50118. HMG_BOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    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: October 1, 2014
    This is version 120 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

    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