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Protein

Mesoderm posterior protein 2

Gene

MESP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processNotch signaling pathway, Transcription, Transcription regulation

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
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000188095.4.
HGNCiHGNC:29659. MESP2.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Spondylocostal dysostosis 2, autosomal recessive (SCDO2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:608681

Keywords - Diseasei

Dwarfism

Organism-specific databases

DisGeNETi145873.
GeneReviewsiMESP2.
MalaCardsiMESP2.
MIMi608681. phenotype.
OpenTargetsiENSG00000188095.
Orphaneti2311. Autosomal recessive spondylocostal dysostosis.
PharmGKBiPA142671469.

Polymorphism and mutation databases

BioMutaiMESP2.
DMDMi290457624.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002963011 – 397Mesoderm posterior protein 2Add BLAST397

Post-translational modificationi

Degraded by the proteasome.By similarity

Proteomic databases

PaxDbiQ0VG99.
PeptideAtlasiQ0VG99.
PRIDEiQ0VG99.

PTM databases

iPTMnetiQ0VG99.
PhosphoSitePlusiQ0VG99.

Expressioni

Gene expression databases

BgeeiENSG00000188095.
CleanExiHS_MESP2.
ExpressionAtlasiQ0VG99. baseline and differential.
GenevisibleiQ0VG99. HS.

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi126951. 3 interactors.
STRINGi9606.ENSP00000342392.

Structurei

3D structure databases

ProteinModelPortaliQ0VG99.
SMRiQ0VG99.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini81 – 135bHLHPROSITE-ProRule annotationAdd BLAST55
Repeati179 – 18012
Repeati181 – 18222
Repeati183 – 18432
Repeati185 – 18642
Repeati187 – 18852
Repeati189 – 19062
Repeati191 – 19272
Repeati193 – 19482
Repeati195 – 19692
Repeati197 – 198102
Repeati199 – 200112
Repeati201 – 202122
Repeati203 – 204132

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni179 – 20413 X 2 AA tandem repeats of G-QAdd BLAST26

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG4029. Eukaryota.
ENOG411227D. LUCA.
GeneTreeiENSGT00530000063712.
HOGENOMiHOG000290634.
HOVERGENiHBG096371.
InParanoidiQ0VG99.
KOiK09076.
OMAiCPKIQSP.
OrthoDBiEOG091G0LDC.
PhylomeDBiQ0VG99.
TreeFamiTF325707.

Family and domain databases

CDDicd00083. HLH. 1 hit.
Gene3Di4.10.280.10. 1 hit.
InterProiView protein in InterPro
IPR011598. bHLH_dom.
IPR036638. HLH_DNA-bd_sf.
PfamiView protein in Pfam
PF00010. HLH. 1 hit.
SMARTiView protein in SMART
SM00353. HLH. 1 hit.
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiView protein in PROSITE
PS50888. BHLH. 1 hit.

Sequencei

Sequence statusi: Complete.

Q0VG99-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAQSPPPQSL LGHDHWIFAQ GWGWAGHWDS TSPASSSDSS GSCPCDGARG
60 70 80 90 100
LPQPQPPSCS SRAAEAAATT PRRARTGPAG GQRQSASERE KLRMRTLARA
110 120 130 140 150
LHELRRFLPP SLAPAGQSLT KIETLRLAIR YIGHLSAVLG LSEESLQCRR
160 170 180 190 200
RQRGDAGSPW GCPLCPDRGP AEAQTQAEGQ GQGQGQGQGQ GQGQGQGQGQ
210 220 230 240 250
GQGQGRRPGL VSAVLAEASW GSPSACPGAQ AAPERLGRGV HDTDPWATPP
260 270 280 290 300
YCPKIQSPPY SSQGTTSDAS LWTPPQGCPW TQSSPEPRNP PVPWTAAPAT
310 320 330 340 350
LELAAVYQGL SVSPEPCLSL GAPSLLPHPS CQRLQPQTPG RCWSHSAEVV
360 370 380 390
PNSEDQGPGA AFQLSEASPP QSSGLRFSGC PELWQEDLEG ARLGIFY
Length:397
Mass (Da):41,760
Last modified:March 2, 2010 - v2
Checksum:i6CC8A423D23BF88B
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti202 – 205Missing in AAI11414 (PubMed:15489334).Curated4

Polymorphismi

The number of GQ repeats at position 179 is polymorphic.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04677966A → G1 PublicationCorresponds to variant dbSNP:rs71647809Ensembl.1
Natural variantiVAR_046780125L → V in a patient with spondylocostal dysostosis; inactive. 1 PublicationCorresponds to variant dbSNP:rs71647806Ensembl.1
Natural variantiVAR_061257138V → M. Corresponds to variant dbSNP:rs28462216Ensembl.1
Natural variantiVAR_046781224S → F1 PublicationCorresponds to variant dbSNP:rs71647807Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMESP2_HUMAN
AccessioniPrimary (citable) accession number: Q0VG99
Secondary accession number(s): Q7RTU2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: March 2, 2010
Last modified: October 25, 2017
This is version 101 of the entry and version 2 of the sequence. See 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