UniProtKB - Q0VG99 (MESP2_HUMAN)
Mesoderm posterior protein 2
MESP2
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
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- protein dimerization activity Source: InterPro
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- heart morphogenesis Source: GO_Central
- mesoderm formation Source: GO_Central
- Notch signaling pathway Source: UniProtKB-KW
- regulation of transcription by RNA polymerase II Source: GO_Central
- somite rostral/caudal axis specification Source: GO_Central
Keywordsi
Molecular function | Developmental protein, DNA-binding |
Biological process | Notch signaling pathway, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q0VG99 |
SignaLinki | Q0VG99 |
Names & Taxonomyi
Protein namesi | Recommended name: Mesoderm posterior protein 2Alternative name(s): Class C basic helix-loop-helix protein 6 Short name: bHLHc6 |
Gene namesi | Name:MESP2 Synonyms:BHLHC6, SCDO2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:29659, MESP2 |
MIMi | 605195, gene |
neXtProti | NX_Q0VG99 |
VEuPathDBi | HostDB:ENSG00000188095 |
Subcellular locationi
Nucleus
- Nucleus PROSITE-ProRule annotation
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Spondylocostal dysostosis 2, autosomal recessive (SCDO2)1 Publication
Keywords - Diseasei
DwarfismOrganism-specific databases
DisGeNETi | 145873 |
GeneReviewsi | MESP2 |
MalaCardsi | MESP2 |
MIMi | 608681, phenotype |
OpenTargetsi | ENSG00000188095 |
Orphaneti | 2311, Autosomal recessive spondylocostal dysostosis |
PharmGKBi | PA142671469 |
Miscellaneous databases
Pharosi | Q0VG99, Tbio |
Genetic variation databases
BioMutai | MESP2 |
DMDMi | 290457624 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000296301 | 1 – 397 | Mesoderm posterior protein 2Add BLAST | 397 |
Post-translational modificationi
Proteomic databases
PaxDbi | Q0VG99 |
PeptideAtlasi | Q0VG99 |
PRIDEi | Q0VG99 |
PTM databases
iPTMneti | Q0VG99 |
PhosphoSitePlusi | Q0VG99 |
Expressioni
Gene expression databases
Bgeei | ENSG00000188095, Expressed in buccal mucosa cell and 114 other tissues |
ExpressionAtlasi | Q0VG99, baseline and differential |
Genevisiblei | Q0VG99, HS |
Organism-specific databases
HPAi | ENSG00000188095, Low tissue specificity |
Interactioni
GO - Molecular functioni
- protein dimerization activity Source: InterPro
Protein-protein interaction databases
BioGRIDi | 126951, 8 interactors |
IntActi | Q0VG99, 4 interactors |
STRINGi | 9606.ENSP00000342392 |
Miscellaneous databases
RNActi | Q0VG99, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 81 – 135 | bHLHPROSITE-ProRule annotationAdd BLAST | 55 | |
Repeati | 179 – 180 | 1 | 2 | |
Repeati | 181 – 182 | 2 | 2 | |
Repeati | 183 – 184 | 3 | 2 | |
Repeati | 185 – 186 | 4 | 2 | |
Repeati | 187 – 188 | 5 | 2 | |
Repeati | 189 – 190 | 6 | 2 | |
Repeati | 191 – 192 | 7 | 2 | |
Repeati | 193 – 194 | 8 | 2 | |
Repeati | 195 – 196 | 9 | 2 | |
Repeati | 197 – 198 | 10 | 2 | |
Repeati | 199 – 200 | 11 | 2 | |
Repeati | 201 – 202 | 12 | 2 | |
Repeati | 203 – 204 | 13 | 2 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 28 – 92 | DisorderedSequence analysisAdd BLAST | 65 | |
Regioni | 152 – 208 | DisorderedSequence analysisAdd BLAST | 57 | |
Regioni | 179 – 204 | 13 X 2 AA tandem repeats of G-QAdd BLAST | 26 | |
Regioni | 222 – 295 | DisorderedSequence analysisAdd BLAST | 74 | |
Regioni | 351 – 376 | DisorderedSequence analysisAdd BLAST | 26 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 29 – 43 | Polar residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 175 – 205 | Polar residuesSequence analysisAdd BLAST | 31 | |
Compositional biasi | 257 – 279 | Polar residuesSequence analysisAdd BLAST | 23 | |
Compositional biasi | 280 – 294 | Pro residuesSequence analysisAdd BLAST | 15 |
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG4029, Eukaryota |
GeneTreei | ENSGT00530000063712 |
HOGENOMi | CLU_064749_0_0_1 |
InParanoidi | Q0VG99 |
OMAi | PYCPGMQ |
OrthoDBi | 1072866at2759 |
PhylomeDBi | Q0VG99 |
TreeFami | TF325707 |
Family and domain databases
Gene3Di | 4.10.280.10, 1 hit |
InterProi | View protein in InterPro IPR011598, bHLH_dom IPR036638, HLH_DNA-bd_sf IPR040259, Mesogenin/MesP |
PANTHERi | PTHR20937, PTHR20937, 1 hit |
Pfami | View protein in Pfam PF00010, HLH, 1 hit |
SMARTi | View protein in SMART SM00353, HLH, 1 hit |
SUPFAMi | SSF47459, SSF47459, 1 hit |
PROSITEi | View protein in PROSITE PS50888, BHLH, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketH0YKZ5 | H0YKZ5_HUMAN | Mesoderm posterior protein 2 | MESP2 | 99 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 202 – 205 | Missing in AAI11414 (PubMed:15489334).Curated | 4 |
Polymorphismi
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_046779 | 66 | A → G1 PublicationCorresponds to variant dbSNP:rs71647809EnsemblClinVar. | 1 | |
Natural variantiVAR_046780 | 125 | L → V in a patient with spondylocostal dysostosis; inactive. 1 PublicationCorresponds to variant dbSNP:rs71647806EnsemblClinVar. | 1 | |
Natural variantiVAR_061257 | 138 | V → M. Corresponds to variant dbSNP:rs28462216EnsemblClinVar. | 1 | |
Natural variantiVAR_046781 | 224 | S → 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. |
CCDSi | CCDS42078.1 |
RefSeqi | NP_001035047.1, NM_001039958.1 |
Genome annotation databases
Ensembli | ENST00000341735.5; ENSP00000342392.3; ENSG00000188095.6 |
GeneIDi | 145873 |
KEGGi | hsa:145873 |
MANE-Selecti | ENST00000341735.5; ENSP00000342392.3; NM_001039958.2; NP_001035047.1 |
UCSCi | uc002bon.4, human |
Similar proteinsi
Cross-referencesi
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. |
CCDSi | CCDS42078.1 |
RefSeqi | NP_001035047.1, NM_001039958.1 |
3D structure databases
AlphaFoldDBi | Q0VG99 |
SMRi | Q0VG99 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 126951, 8 interactors |
IntActi | Q0VG99, 4 interactors |
STRINGi | 9606.ENSP00000342392 |
PTM databases
iPTMneti | Q0VG99 |
PhosphoSitePlusi | Q0VG99 |
Genetic variation databases
BioMutai | MESP2 |
DMDMi | 290457624 |
Proteomic databases
PaxDbi | Q0VG99 |
PeptideAtlasi | Q0VG99 |
PRIDEi | Q0VG99 |
Protocols and materials databases
Antibodypediai | 28666, 107 antibodies from 27 providers |
DNASUi | 145873 |
Genome annotation databases
Ensembli | ENST00000341735.5; ENSP00000342392.3; ENSG00000188095.6 |
GeneIDi | 145873 |
KEGGi | hsa:145873 |
MANE-Selecti | ENST00000341735.5; ENSP00000342392.3; NM_001039958.2; NP_001035047.1 |
UCSCi | uc002bon.4, human |
Organism-specific databases
CTDi | 145873 |
DisGeNETi | 145873 |
GeneCardsi | MESP2 |
GeneReviewsi | MESP2 |
HGNCi | HGNC:29659, MESP2 |
HPAi | ENSG00000188095, Low tissue specificity |
MalaCardsi | MESP2 |
MIMi | 605195, gene 608681, phenotype |
neXtProti | NX_Q0VG99 |
OpenTargetsi | ENSG00000188095 |
Orphaneti | 2311, Autosomal recessive spondylocostal dysostosis |
PharmGKBi | PA142671469 |
VEuPathDBi | HostDB:ENSG00000188095 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4029, Eukaryota |
GeneTreei | ENSGT00530000063712 |
HOGENOMi | CLU_064749_0_0_1 |
InParanoidi | Q0VG99 |
OMAi | PYCPGMQ |
OrthoDBi | 1072866at2759 |
PhylomeDBi | Q0VG99 |
TreeFami | TF325707 |
Enzyme and pathway databases
PathwayCommonsi | Q0VG99 |
SignaLinki | Q0VG99 |
Miscellaneous databases
BioGRID-ORCSi | 145873, 12 hits in 1090 CRISPR screens |
ChiTaRSi | MESP2, human |
GeneWikii | MESP2 |
GenomeRNAii | 145873 |
Pharosi | Q0VG99, Tbio |
PROi | PR:Q0VG99 |
RNActi | Q0VG99, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000188095, Expressed in buccal mucosa cell and 114 other tissues |
ExpressionAtlasi | Q0VG99, baseline and differential |
Genevisiblei | Q0VG99, HS |
Family and domain databases
Gene3Di | 4.10.280.10, 1 hit |
InterProi | View protein in InterPro IPR011598, bHLH_dom IPR036638, HLH_DNA-bd_sf IPR040259, Mesogenin/MesP |
PANTHERi | PTHR20937, PTHR20937, 1 hit |
Pfami | View protein in Pfam PF00010, HLH, 1 hit |
SMARTi | View protein in SMART SM00353, HLH, 1 hit |
SUPFAMi | SSF47459, SSF47459, 1 hit |
PROSITEi | View protein in PROSITE PS50888, BHLH, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | MESP2_HUMAN | |
Accessioni | Q0VG99Primary (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: | May 25, 2022 | |
This is version 128 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 15
Human chromosome 15: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot