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O15499

- GSC2_HUMAN

UniProt

O15499 - GSC2_HUMAN

Protein

Homeobox protein goosecoid-2

Gene

GSC2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 114 (01 Oct 2014)
      Sequence version 1 (01 Jan 1998)
      Previous versions | rss
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    Functioni

    May have a role in development. May regulate its own transcription. May bind the bicoid consensus sequence TAATCC.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi126 – 18560HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

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

    GO - Biological processi

    1. anatomical structure morphogenesis Source: ProtInc
    2. regulation of transcription from RNA polymerase II promoter Source: MGI

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein goosecoid-2
    Short name:
    GSC-2
    Alternative name(s):
    Homeobox protein goosecoid-like
    Short name:
    GSC-L
    Gene namesi
    Name:GSC2
    Synonyms:GSCL
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 22

    Organism-specific databases

    HGNCiHGNC:4613. GSC2.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162390265.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 205205Homeobox protein goosecoid-2PRO_0000048891Add
    BLAST

    Proteomic databases

    PaxDbiO15499.
    PRIDEiO15499.

    Expressioni

    Tissue specificityi

    Detected in adult testis and pituitary, and in 9-10 week fetal tissue (thorax). Probably expressed in other tissues at low levels.

    Developmental stagei

    Expressed in early human development as well as in a limited number of adult tissues.

    Gene expression databases

    BgeeiO15499.
    CleanExiHS_GSC2.
    GenevestigatoriO15499.

    Organism-specific databases

    HPAiHPA043011.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000086933.

    Structurei

    3D structure databases

    ProteinModelPortaliO15499.
    SMRiO15499. Positions 127-189.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi2 – 54Poly-Ala
    Compositional biasi64 – 707Poly-Cys

    Sequence similaritiesi

    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG244876.
    HOGENOMiHOG000112823.
    HOVERGENiHBG005922.
    InParanoidiO15499.
    KOiK09325.
    OMAiCPFSIEH.
    OrthoDBiEOG78SQKS.
    PhylomeDBiO15499.
    TreeFamiTF351613.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    [Graphical view]
    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.

    O15499-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAAAAGGAAS RRGAGRPCPF SIEHILSSLP ERSLPARAAC PPQPAGRQSP    50
    AKPEEPGAPE AAPCACCCCC GPRAAPCGPP EAAAGLGARL AWPLRLGPAV 100
    PLSLGAPAGG SGALPGAVGP GSQRRTRRHR TIFSEEQLQA LEALFVQNQY 150
    PDVSTRERLA GRIRLREERV EVWFKNRRAK WRHQKRASAS ARLLPGVKKS 200
    PKGSC 205
    Length:205
    Mass (Da):21,545
    Last modified:January 1, 1998 - v1
    Checksum:i665C33D9C454E7A7
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti47 – 471R → C.1 Publication
    Corresponds to variant rs34341950 [ dbSNP | Ensembl ].
    VAR_008549

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U96402 Genomic DNA. Translation: AAC39544.1.
    CCDSiCCDS13757.1.
    RefSeqiNP_005306.1. NM_005315.1.
    UniGeneiHs.534318.

    Genome annotation databases

    EnsembliENST00000086933; ENSP00000086933; ENSG00000063515.
    GeneIDi2928.
    KEGGihsa:2928.
    UCSCiuc011ags.2. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U96402 Genomic DNA. Translation: AAC39544.1 .
    CCDSi CCDS13757.1.
    RefSeqi NP_005306.1. NM_005315.1.
    UniGenei Hs.534318.

    3D structure databases

    ProteinModelPortali O15499.
    SMRi O15499. Positions 127-189.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000086933.

    Proteomic databases

    PaxDbi O15499.
    PRIDEi O15499.

    Protocols and materials databases

    DNASUi 2928.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000086933 ; ENSP00000086933 ; ENSG00000063515 .
    GeneIDi 2928.
    KEGGi hsa:2928.
    UCSCi uc011ags.2. human.

    Organism-specific databases

    CTDi 2928.
    GeneCardsi GC22M019136.
    HGNCi HGNC:4613. GSC2.
    HPAi HPA043011.
    MIMi 601845. gene.
    neXtProti NX_O15499.
    PharmGKBi PA162390265.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG244876.
    HOGENOMi HOG000112823.
    HOVERGENi HBG005922.
    InParanoidi O15499.
    KOi K09325.
    OMAi CPFSIEH.
    OrthoDBi EOG78SQKS.
    PhylomeDBi O15499.
    TreeFami TF351613.

    Miscellaneous databases

    GenomeRNAii 2928.
    NextBioi 11607.
    PROi O15499.
    SOURCEi Search...

    Gene expression databases

    Bgeei O15499.
    CleanExi HS_GSC2.
    Genevestigatori O15499.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    [Graphical view ]
    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. "Characterization and mutation analysis of goosecoid-like (GSCL), a homeodomain-containing gene that maps to the critical region for VCFS/DGS on 22q11."
      Funke B., St Jore B., Puech A., Sirotkin H., Edelmann L., Carlson C., Raft S., Pandita R.K., Kucherlapati R., Skoultchi A., Morrow B.E.
      Genomics 46:364-372(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT CYS-47.
    2. "The DiGeorge syndrome minimal critical region contains a goosecoid-like (GSCL) homeobox gene that is expressed early in human development."
      Gottlieb S., Emanuel B.S., Driscoll D.A., Sellinger B., Wang Z., Roe B., Budarf M.L.
      Am. J. Hum. Genet. 60:1194-1201(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].

    Entry informationi

    Entry nameiGSC2_HUMAN
    AccessioniPrimary (citable) accession number: O15499
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: January 1, 1998
    Last modified: October 1, 2014
    This is version 114 of the entry and version 1 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 22
      Human chromosome 22: 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