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UniProtKB - Q0VG99 (MESP2_HUMAN)

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Protein

Mesoderm posterior protein 2

Gene

MESP2

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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000188095.4
HGNCiHGNC:29659 MESP2
MIMi605195 gene
neXtProtiNX_Q0VG99

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
ProteomicsDBi58841

PTM databases

iPTMnetiQ0VG99
PhosphoSitePlusiQ0VG99

Expressioni

Gene expression databases

BgeeiENSG00000188095
CleanExiHS_MESP2
ExpressionAtlasiQ0VG99 baseline and differential
GenevisibleiQ0VG99 HS

Interactioni

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

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:rs71647809EnsemblClinVar.1
Natural variantiVAR_046780125L → V in a patient with spondylocostal dysostosis; inactive. 1 PublicationCorresponds to variant dbSNP:rs71647806EnsemblClinVar.1
Natural variantiVAR_061257138V → M. Corresponds to variant dbSNP:rs28462216EnsemblClinVar.1
Natural variantiVAR_046781224S → F1 PublicationCorresponds to variant dbSNP:rs71647807EnsemblClinVar.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: June 20, 2018
This is version 106 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

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