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Q9BZM3

- GSX2_HUMAN

UniProt

Q9BZM3 - GSX2_HUMAN

Protein

GS homeobox 2

Gene

GSX2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 104 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
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    Functioni

    Probable transcription factor that binds to the DNA sequence 5'-CNAATTAG-3'.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi202 – 26160HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. sequence-specific DNA binding Source: InterPro
    2. sequence-specific DNA binding transcription factor activity Source: InterPro

    GO - Biological processi

    1. forebrain dorsal/ventral pattern formation Source: Ensembl
    2. forebrain morphogenesis Source: Ensembl
    3. hindbrain morphogenesis Source: Ensembl
    4. neuron fate specification Source: Ensembl
    5. olfactory bulb interneuron differentiation Source: Ensembl
    6. positive regulation of Notch signaling pathway Source: Ensembl
    7. positive regulation of oligodendrocyte differentiation Source: Ensembl
    8. regulation of respiratory gaseous exchange by neurological system process Source: Ensembl
    9. spinal cord association neuron differentiation Source: Ensembl
    10. subpallium neuron fate commitment Source: Ensembl
    11. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    GS homeobox 2
    Alternative name(s):
    Homeobox protein GSH-2
    Gene namesi
    Name:GSX2
    Synonyms:GSH2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:24959. GSX2.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162390374.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 304304GS homeobox 2PRO_0000048896Add
    BLAST

    Proteomic databases

    PaxDbiQ9BZM3.
    PRIDEiQ9BZM3.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9BZM3.
    BgeeiQ9BZM3.
    CleanExiHS_GSX2.
    GenevestigatoriQ9BZM3.

    Interactioni

    Protein-protein interaction databases

    IntActiQ9BZM3. 1 interaction.
    STRINGi9606.ENSP00000319118.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BZM3.
    SMRiQ9BZM3. Positions 203-260.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi124 – 1307Poly-His
    Compositional biasi134 – 1396Poly-His
    Compositional biasi147 – 16216Poly-AlaAdd
    BLAST

    Sequence similaritiesi

    Belongs to the Antp homeobox family.Curated
    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG264927.
    HOGENOMiHOG000010106.
    HOVERGENiHBG003555.
    InParanoidiQ9BZM3.
    KOiK09310.
    OMAiAFCVCPL.
    OrthoDBiEOG72C514.
    PhylomeDBiQ9BZM3.
    TreeFamiTF315938.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    [Graphical view]
    PRINTSiPR00024. HOMEOBOX.
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9BZM3-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSRSFYVDSL IIKDTSRPAP SLPEPHPGPD FFIPLGMPPP LVMSVSGPGC    50
    PSRKSGAFCV CPLCVTSHLH SSRGSVGAGS GGAGAGVTGA GGSGVAGAAG 100
    ALPLLKGQFS SAPGDAQFCP RVNHAHHHHH PPQHHHHHHQ PQQPGSAAAA 150
    AAAAAAAAAA AALGHPQHHA PVCTATTYNV ADPRRFHCLT MGGSDASQVP 200
    NGKRMRTAFT STQLLELERE FSSNMYLSRL RRIEIATYLN LSEKQVKIWF 250
    QNRRVKHKKE GKGTQRNSHA GCKCVGSQVH YARSEDEDSL SPASANDDKE 300
    ISPL 304
    Length:304
    Mass (Da):32,031
    Last modified:May 18, 2010 - v2
    Checksum:i2C879AC635C07F0D
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti107 – 1071G → S.4 Publications
    Corresponds to variant rs13144341 [ dbSNP | Ensembl ].
    VAR_049580

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB028838 mRNA. Translation: BAB84822.1.
    AF306344, AF306343 Genomic DNA. Translation: AAK00880.1.
    AF439445 Genomic DNA. Translation: AAM08285.1.
    AC110298 Genomic DNA. No translation available.
    BC075089 mRNA. Translation: AAH75089.1.
    BC075090 mRNA. Translation: AAH75090.1.
    CCDSiCCDS3494.1.
    RefSeqiNP_573574.1. NM_133267.2.
    UniGeneiHs.371899.

    Genome annotation databases

    EnsembliENST00000326902; ENSP00000319118; ENSG00000180613.
    GeneIDi170825.
    KEGGihsa:170825.
    UCSCiuc010igp.1. human.

    Polymorphism databases

    DMDMi296434530.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB028838 mRNA. Translation: BAB84822.1 .
    AF306344 , AF306343 Genomic DNA. Translation: AAK00880.1 .
    AF439445 Genomic DNA. Translation: AAM08285.1 .
    AC110298 Genomic DNA. No translation available.
    BC075089 mRNA. Translation: AAH75089.1 .
    BC075090 mRNA. Translation: AAH75090.1 .
    CCDSi CCDS3494.1.
    RefSeqi NP_573574.1. NM_133267.2.
    UniGenei Hs.371899.

    3D structure databases

    ProteinModelPortali Q9BZM3.
    SMRi Q9BZM3. Positions 203-260.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q9BZM3. 1 interaction.
    STRINGi 9606.ENSP00000319118.

    Polymorphism databases

    DMDMi 296434530.

    Proteomic databases

    PaxDbi Q9BZM3.
    PRIDEi Q9BZM3.

    Protocols and materials databases

    DNASUi 170825.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000326902 ; ENSP00000319118 ; ENSG00000180613 .
    GeneIDi 170825.
    KEGGi hsa:170825.
    UCSCi uc010igp.1. human.

    Organism-specific databases

    CTDi 170825.
    GeneCardsi GC04P054966.
    HGNCi HGNC:24959. GSX2.
    neXtProti NX_Q9BZM3.
    PharmGKBi PA162390374.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG264927.
    HOGENOMi HOG000010106.
    HOVERGENi HBG003555.
    InParanoidi Q9BZM3.
    KOi K09310.
    OMAi AFCVCPL.
    OrthoDBi EOG72C514.
    PhylomeDBi Q9BZM3.
    TreeFami TF315938.

    Miscellaneous databases

    GenomeRNAii 170825.
    NextBioi 89122.
    PROi Q9BZM3.

    Gene expression databases

    ArrayExpressi Q9BZM3.
    Bgeei Q9BZM3.
    CleanExi HS_GSX2.
    Genevestigatori Q9BZM3.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    [Graphical view ]
    PRINTSi PR00024. HOMEOBOX.
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Human homeobox protein GSH-2."
      Sakai T., Sakamoto S., Nakamura K., Muraki T.
      Submitted (JUN-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT SER-107.
    2. "The sequence of the human GSH2 gene."
      Cools J., Marynen P.
      Submitted (SEP-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT SER-107.
    3. "The genomic sequence of the human GSH-2 gene."
      Dauwerse H.G., Peters D.J.M., Breuning M.H.
      Submitted (OCT-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT SER-107.
    4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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], VARIANT SER-107.
      Tissue: Brain.

    Entry informationi

    Entry nameiGSX2_HUMAN
    AccessioniPrimary (citable) accession number: Q9BZM3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 23, 2002
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 104 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 4
      Human chromosome 4: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3