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Q0VG99

- MESP2_HUMAN

UniProt

Q0VG99 - MESP2_HUMAN

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Protein
Mesoderm posterior protein 2
Gene
MESP2, BHLHC6, SCDO2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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. Notch signaling pathway Source: UniProtKB-KW
  2. mesodermal cell migration Source: Ensembl
  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
Complete GO annotation...

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 By similarity

GO - Cellular componenti

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

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 2
PRO_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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini81 – 13555bHLH
Add
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-Q
Add
BLAST

Sequence similaritiesi

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.

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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti202 – 2054Missing in AAI11414. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 76 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

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