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Q0VG99

- MESP2_HUMAN

UniProt

Q0VG99 - MESP2_HUMAN

Protein

Mesoderm posterior protein 2

Gene

MESP2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 77 (01 Oct 2014)
      Sequence version 2 (02 Mar 2010)
      Previous versions | rss
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    Functioni

    Transcription factor with important role in somitogenesis. Defines the rostrocaudal patterning of the somite by participating in distinct Notch pathways. Regulates also the FGF signaling pathway. Specifies the rostral half of the somites. Generates rostro-caudal polarity of somites by down-regulating in the presumptive rostral domain DLL1, a Notch ligand. Participates in the segment border formation by activating in the anterior presomitic mesoderm LFNG, a negative regulator of DLL1-Notch signaling. Acts as a strong suppressor of Notch activity. Together with MESP1 is involved in the epithelialization of somitic mesoderm and in the development of cardiac mesoderm.

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB-KW
    2. sequence-specific DNA binding transcription factor activity Source: Ensembl

    GO - Biological processi

    1. mesodermal cell migration Source: Ensembl
    2. Notch signaling pathway Source: UniProtKB-KW
    3. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
    4. signal transduction involved in regulation of gene expression Source: Ensembl
    5. somitogenesis Source: Ensembl
    6. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Notch signaling pathway, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Mesoderm posterior protein 2
    Alternative name(s):
    Class C basic helix-loop-helix protein 6
    Short name:
    bHLHc6
    Gene namesi
    Name:MESP2
    Synonyms:BHLHC6, SCDO2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:29659. MESP2.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Spondylocostal dysostosis 2, autosomal recessive (SCDO2) [MIM:608681]: A condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Dwarfism

    Organism-specific databases

    MIMi608681. phenotype.
    Orphaneti2311. Autosomal recessive spondylocostal dysostosis.
    PharmGKBiPA142671469.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 397397Mesoderm posterior protein 2PRO_0000296301Add
    BLAST

    Post-translational modificationi

    Degraded by the proteasome.By similarity

    Proteomic databases

    PaxDbiQ0VG99.
    PRIDEiQ0VG99.

    PTM databases

    PhosphoSiteiQ0VG99.

    Expressioni

    Gene expression databases

    ArrayExpressiQ0VG99.
    BgeeiQ0VG99.
    CleanExiHS_MESP2.
    GenevestigatoriQ0VG99.

    Interactioni

    Protein-protein interaction databases

    BioGridi126951. 1 interaction.
    STRINGi9606.ENSP00000342392.

    Structurei

    3D structure databases

    ProteinModelPortaliQ0VG99.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini81 – 13555bHLHPROSITE-ProRule annotationAdd
    BLAST
    Repeati179 – 18021
    Repeati181 – 18222
    Repeati183 – 18423
    Repeati185 – 18624
    Repeati187 – 18825
    Repeati189 – 19026
    Repeati191 – 19227
    Repeati193 – 19428
    Repeati195 – 19629
    Repeati197 – 198210
    Repeati199 – 200211
    Repeati201 – 202212
    Repeati203 – 204213

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni179 – 2042613 X 2 AA tandem repeats of G-QAdd
    BLAST

    Sequence similaritiesi

    Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG320808.
    HOGENOMiHOG000290634.
    HOVERGENiHBG096371.
    InParanoidiQ0VG99.
    KOiK09076.
    OMAiCPKIQSP.
    PhylomeDBiQ0VG99.
    TreeFamiTF325707.

    Family and domain databases

    Gene3Di4.10.280.10. 1 hit.
    InterProiIPR011598. bHLH_dom.
    [Graphical view]
    PfamiPF00010. HLH. 1 hit.
    [Graphical view]
    SMARTiSM00353. HLH. 1 hit.
    [Graphical view]
    SUPFAMiSSF47459. SSF47459. 1 hit.
    PROSITEiPS50888. BHLH. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q0VG99-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAQSPPPQSL LGHDHWIFAQ GWGWAGHWDS TSPASSSDSS GSCPCDGARG    50
    LPQPQPPSCS SRAAEAAATT PRRARTGPAG GQRQSASERE KLRMRTLARA 100
    LHELRRFLPP SLAPAGQSLT KIETLRLAIR YIGHLSAVLG LSEESLQCRR 150
    RQRGDAGSPW GCPLCPDRGP AEAQTQAEGQ GQGQGQGQGQ GQGQGQGQGQ 200
    GQGQGRRPGL VSAVLAEASW GSPSACPGAQ AAPERLGRGV HDTDPWATPP 250
    YCPKIQSPPY SSQGTTSDAS LWTPPQGCPW TQSSPEPRNP PVPWTAAPAT 300
    LELAAVYQGL SVSPEPCLSL GAPSLLPHPS CQRLQPQTPG RCWSHSAEVV 350
    PNSEDQGPGA AFQLSEASPP QSSGLRFSGC PELWQEDLEG ARLGIFY 397
    Length:397
    Mass (Da):41,760
    Last modified:March 2, 2010 - v2
    Checksum:i6CC8A423D23BF88B
    GO

    Sequence cautioni

    The sequence DAA00304.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti202 – 2054Missing in AAI11414. (PubMed:15489334)Curated

    Polymorphismi

    The number of GQ repeats at position 179 is polymorphic.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti66 – 661A → G.1 Publication
    Corresponds to variant rs71647809 [ dbSNP | Ensembl ].
    VAR_046779
    Natural varianti125 – 1251L → V in a patient with spondylocostal dysostosis; inactive. 1 Publication
    VAR_046780
    Natural varianti138 – 1381V → M.
    Corresponds to variant rs28462216 [ dbSNP | Ensembl ].
    VAR_061257
    Natural varianti224 – 2241S → F.1 Publication
    Corresponds to variant rs71647807 [ dbSNP | Ensembl ].
    VAR_046781

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC079075 Genomic DNA. No translation available.
    BC111413 mRNA. Translation: AAI11414.1.
    BK000142 Genomic DNA. Translation: DAA00304.1. Sequence problems.
    CCDSiCCDS42078.1.
    RefSeqiNP_001035047.1. NM_001039958.1.
    UniGeneiHs.37311.

    Genome annotation databases

    EnsembliENST00000341735; ENSP00000342392; ENSG00000188095.
    GeneIDi145873.
    KEGGihsa:145873.
    UCSCiuc002bon.3. human.

    Polymorphism databases

    DMDMi290457624.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC079075 Genomic DNA. No translation available.
    BC111413 mRNA. Translation: AAI11414.1 .
    BK000142 Genomic DNA. Translation: DAA00304.1 . Sequence problems.
    CCDSi CCDS42078.1.
    RefSeqi NP_001035047.1. NM_001039958.1.
    UniGenei Hs.37311.

    3D structure databases

    ProteinModelPortali Q0VG99.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 126951. 1 interaction.
    STRINGi 9606.ENSP00000342392.

    PTM databases

    PhosphoSitei Q0VG99.

    Polymorphism databases

    DMDMi 290457624.

    Proteomic databases

    PaxDbi Q0VG99.
    PRIDEi Q0VG99.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000341735 ; ENSP00000342392 ; ENSG00000188095 .
    GeneIDi 145873.
    KEGGi hsa:145873.
    UCSCi uc002bon.3. human.

    Organism-specific databases

    CTDi 145873.
    GeneCardsi GC15P090319.
    GeneReviewsi MESP2.
    H-InvDB HIX0038295.
    HGNCi HGNC:29659. MESP2.
    MIMi 605195. gene.
    608681. phenotype.
    neXtProti NX_Q0VG99.
    Orphaneti 2311. Autosomal recessive spondylocostal dysostosis.
    PharmGKBi PA142671469.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG320808.
    HOGENOMi HOG000290634.
    HOVERGENi HBG096371.
    InParanoidi Q0VG99.
    KOi K09076.
    OMAi CPKIQSP.
    PhylomeDBi Q0VG99.
    TreeFami TF325707.

    Miscellaneous databases

    GeneWikii MESP2.
    GenomeRNAii 145873.
    NextBioi 85220.
    PROi Q0VG99.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q0VG99.
    Bgeei Q0VG99.
    CleanExi HS_MESP2.
    Genevestigatori Q0VG99.

    Family and domain databases

    Gene3Di 4.10.280.10. 1 hit.
    InterProi IPR011598. bHLH_dom.
    [Graphical view ]
    Pfami PF00010. HLH. 1 hit.
    [Graphical view ]
    SMARTi SM00353. HLH. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47459. SSF47459. 1 hit.
    PROSITEi PS50888. BHLH. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Analysis of the DNA sequence and duplication history of human chromosome 15."
      Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
      , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
      Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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].
    3. "Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening."
      McLellan A.S., Langlands K., Kealey T.
      Mech. Dev. 119:S285-S291(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION.
    4. Cited for: INVOLVEMENT IN SCDO2.
    5. Cited for: VARIANTS GLY-66; VAL-125 AND PHE-224, CHARACTERIZATION OF VARIANT VAL-125.

    Entry informationi

    Entry nameiMESP2_HUMAN
    AccessioniPrimary (citable) accession number: Q0VG99
    Secondary accession number(s): Q7RTU2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 24, 2007
    Last sequence update: March 2, 2010
    Last modified: October 1, 2014
    This is version 77 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 15
      Human chromosome 15: 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