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O60902

- SHOX2_HUMAN

UniProt

O60902 - SHOX2_HUMAN

Protein

Short stature homeobox protein 2

Gene

SHOX2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 139 (01 Oct 2014)
      Sequence version 4 (17 Apr 2007)
      Previous versions | rss
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    Functioni

    May be a growth regulator and have a role in specifying neural systems involved in processing somatosensory information, as well as in face and body structure formation.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi140 – 19960HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

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

    GO - Biological processi

    1. cardiac atrium morphogenesis Source: Ensembl
    2. cartilage development involved in endochondral bone morphogenesis Source: Ensembl
    3. chondrocyte development Source: Ensembl
    4. embryonic digestive tract morphogenesis Source: Ensembl
    5. embryonic forelimb morphogenesis Source: Ensembl
    6. embryonic skeletal joint morphogenesis Source: Ensembl
    7. heart development Source: ProtInc
    8. heart valve development Source: Ensembl
    9. muscle tissue morphogenesis Source: Ensembl
    10. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    11. nervous system development Source: ProtInc
    12. osteoblast differentiation Source: Ensembl
    13. positive regulation of axonogenesis Source: Ensembl
    14. positive regulation of mesenchymal cell proliferation Source: Ensembl
    15. positive regulation of skeletal muscle fiber development Source: Ensembl
    16. positive regulation of smoothened signaling pathway Source: Ensembl
    17. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
    18. regulation of branching morphogenesis of a nerve Source: Ensembl
    19. regulation of chondrocyte differentiation Source: Ensembl
    20. skeletal system development Source: ProtInc

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Short stature homeobox protein 2
    Alternative name(s):
    Homeobox protein Og12X
    Paired-related homeobox protein SHOT
    Gene namesi
    Name:SHOX2
    Synonyms:OG12X, SHOT
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:10854. SHOX2.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA35756.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 331331Short stature homeobox protein 2PRO_0000049292Add
    BLAST

    Proteomic databases

    PaxDbiO60902.
    PRIDEiO60902.

    PTM databases

    PhosphoSiteiO60902.

    Expressioni

    Tissue specificityi

    Expressed in heart, skeletal muscle, liver, lung, bone marrow fibroblast, pancreas and placenta.

    Developmental stagei

    Expressed during cranofacial development as well as in heart.

    Gene expression databases

    ArrayExpressiO60902.
    BgeeiO60902.
    CleanExiHS_SHOX2.
    GenevestigatoriO60902.

    Interactioni

    Protein-protein interaction databases

    BioGridi112370. 4 interactions.
    IntActiO60902. 2 interactions.
    STRINGi9606.ENSP00000374240.

    Structurei

    3D structure databases

    ProteinModelPortaliO60902.
    SMRiO60902. Positions 140-198.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi313 – 32614OARAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi60 – 8627Poly-GlyAdd
    BLAST

    Sequence similaritiesi

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

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG113578.
    HOGENOMiHOG000231518.
    HOVERGENiHBG007233.
    InParanoidiO60902.
    KOiK09331.
    OMAiEPTGCAE.
    OrthoDBiEOG7J1817.
    PhylomeDBiO60902.
    TreeFamiTF350757.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR000047. HTH_motif.
    IPR003654. OAR_dom.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    PF03826. OAR. 1 hit.
    [Graphical view]
    PRINTSiPR00031. HTHREPRESSR.
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    PS50803. OAR. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O60902-1) [UniParc]FASTAAdd to Basket

    Also known as: SHOX2A, SHOTA

    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

    MEELTAFVSK SFDQKVKEKK EAITYREVLE SGPLRGAKEP TGCTEAGRDD    50
    RSSPAVRAAG GGGGGGGGGG GGGGGGGVGG GGAGGGAGGG RSPVRELDMG 100
    AAERSREPGS PRLTEVSPEL KDRKEDAKGM EDEGQTKIKQ RRSRTNFTLE 150
    QLNELERLFD ETHYPDAFMR EELSQRLGLS EARVQVWFQN RRAKCRKQEN 200
    QLHKGVLIGA ASQFEACRVA PYVNVGALRM PFQQDSHCNV TPLSFQVQAQ 250
    LQLDSAVAHA HHHLHPHLAA HAPYMMFPAP PFGLPLATLA ADSASAASVV 300
    AAAAAAKTTS KNSSIADLRL KAKKHAAALG L 331

    Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Length:331
    Mass (Da):34,953
    Last modified:April 17, 2007 - v4
    Checksum:i06402B3955682252
    GO
    Isoform 2 (identifier: O60902-2) [UniParc]FASTAAdd to Basket

    Also known as: SHOX2B, SHOTB, OG12XB

    The sequence of this isoform differs from the canonical sequence as follows:
         235-246: Missing.

    Show »
    Length:319
    Mass (Da):33,624
    Checksum:i18468ADF4A881FF0
    GO
    Isoform 3 (identifier: O60902-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         115-115: E → EGRRKPTKAEVQATLLLPGEAFRFL

    Note: No experimental confirmation available.

    Show »
    Length:355
    Mass (Da):37,634
    Checksum:i8E1351C4EEA2C449
    GO

    Sequence cautioni

    The sequence AAC39662.1 differs from that shown. Reason: Erroneous initiation.
    The sequence CAA05341.1 differs from that shown. Reason: Erroneous initiation.
    The sequence CAA05342.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti125 – 1251E → D in CAA05341. (PubMed:9482898)Curated
    Sequence conflicti244 – 2441S → P in CAA05341. (PubMed:9482898)Curated
    Sequence conflicti312 – 3121N → D in CAA05341. (PubMed:9482898)Curated
    Sequence conflicti312 – 3121N → D in CAA05342. (PubMed:9482898)Curated
    Sequence conflicti325 – 3251H → L in AAC39663. (PubMed:9466998)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei115 – 1151E → EGRRKPTKAEVQATLLLPGE AFRFL in isoform 3. 1 PublicationVSP_024427
    Alternative sequencei235 – 24612Missing in isoform 2. 2 PublicationsVSP_002288Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ002367 mRNA. Translation: CAA05341.1. Different initiation.
    AJ002368 mRNA. Translation: CAA05342.1. Different initiation.
    BC008829 mRNA. Translation: AAH08829.1.
    AF022654 mRNA. Translation: AAC39662.1. Different initiation.
    AF023203 mRNA. Translation: AAC39663.1.
    CCDSiCCDS33884.2. [O60902-3]
    CCDS43164.1. [O60902-1]
    CCDS54664.1. [O60902-2]
    RefSeqiNP_001157150.1. NM_001163678.1. [O60902-2]
    NP_003021.3. NM_003030.4. [O60902-3]
    NP_006875.2. NM_006884.3. [O60902-1]
    XP_006713791.1. XM_006713728.1.
    XP_006713792.1. XM_006713729.1.
    UniGeneiHs.55967.

    Genome annotation databases

    EnsembliENST00000389589; ENSP00000374240; ENSG00000168779. [O60902-3]
    ENST00000425436; ENSP00000398704; ENSG00000168779. [O60902-1]
    ENST00000483851; ENSP00000419362; ENSG00000168779. [O60902-2]
    GeneIDi6474.
    KEGGihsa:6474.
    UCSCiuc003fbr.3. human. [O60902-1]
    uc003fbs.3. human. [O60902-3]
    uc010hvw.3. human. [O60902-2]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ002367 mRNA. Translation: CAA05341.1 . Different initiation.
    AJ002368 mRNA. Translation: CAA05342.1 . Different initiation.
    BC008829 mRNA. Translation: AAH08829.1 .
    AF022654 mRNA. Translation: AAC39662.1 . Different initiation.
    AF023203 mRNA. Translation: AAC39663.1 .
    CCDSi CCDS33884.2. [O60902-3 ]
    CCDS43164.1. [O60902-1 ]
    CCDS54664.1. [O60902-2 ]
    RefSeqi NP_001157150.1. NM_001163678.1. [O60902-2 ]
    NP_003021.3. NM_003030.4. [O60902-3 ]
    NP_006875.2. NM_006884.3. [O60902-1 ]
    XP_006713791.1. XM_006713728.1.
    XP_006713792.1. XM_006713729.1.
    UniGenei Hs.55967.

    3D structure databases

    ProteinModelPortali O60902.
    SMRi O60902. Positions 140-198.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112370. 4 interactions.
    IntActi O60902. 2 interactions.
    STRINGi 9606.ENSP00000374240.

    PTM databases

    PhosphoSitei O60902.

    Proteomic databases

    PaxDbi O60902.
    PRIDEi O60902.

    Protocols and materials databases

    DNASUi 6474.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000389589 ; ENSP00000374240 ; ENSG00000168779 . [O60902-3 ]
    ENST00000425436 ; ENSP00000398704 ; ENSG00000168779 . [O60902-1 ]
    ENST00000483851 ; ENSP00000419362 ; ENSG00000168779 . [O60902-2 ]
    GeneIDi 6474.
    KEGGi hsa:6474.
    UCSCi uc003fbr.3. human. [O60902-1 ]
    uc003fbs.3. human. [O60902-3 ]
    uc010hvw.3. human. [O60902-2 ]

    Organism-specific databases

    CTDi 6474.
    GeneCardsi GC03M157813.
    HGNCi HGNC:10854. SHOX2.
    MIMi 602504. gene.
    neXtProti NX_O60902.
    PharmGKBi PA35756.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG113578.
    HOGENOMi HOG000231518.
    HOVERGENi HBG007233.
    InParanoidi O60902.
    KOi K09331.
    OMAi EPTGCAE.
    OrthoDBi EOG7J1817.
    PhylomeDBi O60902.
    TreeFami TF350757.

    Miscellaneous databases

    GeneWikii SHOX2.
    GenomeRNAii 6474.
    NextBioi 25151.
    PROi O60902.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O60902.
    Bgeei O60902.
    CleanExi HS_SHOX2.
    Genevestigatori O60902.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR000047. HTH_motif.
    IPR003654. OAR_dom.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    PF03826. OAR. 1 hit.
    [Graphical view ]
    PRINTSi PR00031. HTHREPRESSR.
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    PS50803. OAR. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb development."
      Blaschke R.J., Monaghan A.P., Schiller S., Schechinger B., Rao E., Padilla-Nash H., Ried T., Rappold G.A.
      Proc. Natl. Acad. Sci. U.S.A. 95:2406-2411(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
      Tissue: Fibroblast.
    2. "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 3).
      Tissue: Muscle.
    3. "A new human homeobox gene OG12X is a member of the most conserved homeobox gene family and is expressed during heart development in mouse."
      Semina E.V., Reiter R.S., Murray J.C.
      Hum. Mol. Genet. 7:415-422(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 116-331 (ISOFORM 2).
      Tissue: Craniofacial.
    4. Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).

    Entry informationi

    Entry nameiSHOX2_HUMAN
    AccessioniPrimary (citable) accession number: O60902
    Secondary accession number(s): O60465, O60467, O60903
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 26, 2001
    Last sequence update: April 17, 2007
    Last modified: October 1, 2014
    This is version 139 of the entry and version 4 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 3
      Human chromosome 3: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3