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Q0VG99 (MESP2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 73. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Mesoderm posterior protein 2
Alternative name(s):
Class C basic helix-loop-helix protein 6
Short name=bHLHc6
Gene names
Name:MESP2
Synonyms:BHLHC6, SCDO2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length397 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subcellular location

Nucleus By similarity.

Post-translational modification

Degraded by the proteasome By similarity.

Polymorphism

The number of GQ repeats at position 179 is polymorphic.

Involvement in disease

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.

Sequence similarities

Contains 1 bHLH (basic helix-loop-helix) domain.

Sequence caution

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 397397Mesoderm posterior protein 2
PRO_0000296301

Regions

Domain81 – 13555bHLH
Repeat179 – 18021
Repeat181 – 18222
Repeat183 – 18423
Repeat185 – 18624
Repeat187 – 18825
Repeat189 – 19026
Repeat191 – 19227
Repeat193 – 19428
Repeat195 – 19629
Repeat197 – 198210
Repeat199 – 200211
Repeat201 – 202212
Repeat203 – 204213
Region179 – 2042613 X 2 AA tandem repeats of G-Q

Natural variations

Natural variant661A → G. Ref.5
Corresponds to variant rs71647809 [ dbSNP | Ensembl ].
VAR_046779
Natural variant1251L → V in a patient with spondylocostal dysostosis; inactive. Ref.5
VAR_046780
Natural variant1381V → M.
Corresponds to variant rs28462216 [ dbSNP | Ensembl ].
VAR_061257
Natural variant2241S → F. Ref.5
Corresponds to variant rs71647807 [ dbSNP | Ensembl ].
VAR_046781

Experimental info

Sequence conflict202 – 2054Missing in AAI11414. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Q0VG99 [UniParc].

Last modified March 2, 2010. Version 2.
Checksum: 6CC8A423D23BF88B

FASTA39741,760
        10         20         30         40         50         60 
MAQSPPPQSL LGHDHWIFAQ GWGWAGHWDS TSPASSSDSS GSCPCDGARG LPQPQPPSCS 

        70         80         90        100        110        120 
SRAAEAAATT PRRARTGPAG GQRQSASERE KLRMRTLARA LHELRRFLPP SLAPAGQSLT 

       130        140        150        160        170        180 
KIETLRLAIR YIGHLSAVLG LSEESLQCRR RQRGDAGSPW GCPLCPDRGP AEAQTQAEGQ 

       190        200        210        220        230        240 
GQGQGQGQGQ GQGQGQGQGQ GQGQGRRPGL VSAVLAEASW GSPSACPGAQ AAPERLGRGV 

       250        260        270        280        290        300 
HDTDPWATPP YCPKIQSPPY SSQGTTSDAS LWTPPQGCPW TQSSPEPRNP PVPWTAAPAT 

       310        320        330        340        350        360 
LELAAVYQGL SVSPEPCLSL GAPSLLPHPS CQRLQPQTPG RCWSHSAEVV PNSEDQGPGA 

       370        380        390 
AFQLSEASPP QSSGLRFSGC PELWQEDLEG ARLGIFY 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"Mutated MESP2 causes spondylocostal dysostosis in humans."
Whittock N.V., Sparrow D.B., Wouters M.A., Sillence D., Ellard S., Dunwoodie S.L., Turnpenny P.D.
Am. J. Hum. Genet. 74:1249-1254(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SCDO2.
[5]"Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome."
Cornier A.S., Staehling-Hampton K., Delventhal K.M., Saga Y., Caubet J.-F., Sasaki N., Ellard S., Young E., Ramirez N., Carlo S.E., Torres J., Emans J.B., Turnpenny P.D., Pourquie O.
Am. J. Hum. Genet. 82:1334-1341(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS GLY-66; VAL-125 AND PHE-224, CHARACTERIZATION OF VARIANT VAL-125.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AC079075 Genomic DNA. No translation available.
BC111413 mRNA. Translation: AAI11414.1.
BK000142 Genomic DNA. Translation: DAA00304.1. Sequence problems.
RefSeqNP_001035047.1. NM_001039958.1.
UniGeneHs.37311.

3D structure databases

ProteinModelPortalQ0VG99.
SMRQ0VG99. Positions 82-140.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid126951. 1 interaction.
STRING9606.ENSP00000342392.

PTM databases

PhosphoSiteQ0VG99.

Polymorphism databases

DMDM290457624.

Proteomic databases

PaxDbQ0VG99.
PRIDEQ0VG99.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000341735; ENSP00000342392; ENSG00000188095.
GeneID145873.
KEGGhsa:145873.
UCSCuc002bon.3. human.

Organism-specific databases

CTD145873.
GeneCardsGC15P090319.
H-InvDBHIX0038295.
HGNCHGNC:29659. MESP2.
MIM605195. gene.
608681. phenotype.
neXtProtNX_Q0VG99.
Orphanet2311. Autosomal recessive spondylocostal dysostosis.
PharmGKBPA142671469.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG320808.
HOGENOMHOG000290634.
HOVERGENHBG096371.
InParanoidQ0VG99.
KOK09076.
OMACPKIQSP.
PhylomeDBQ0VG99.
TreeFamTF325707.

Gene expression databases

ArrayExpressQ0VG99.
BgeeQ0VG99.
CleanExHS_MESP2.
GenevestigatorQ0VG99.

Family and domain databases

Gene3D4.10.280.10. 1 hit.
InterProIPR011598. bHLH_dom.
[Graphical view]
PfamPF00010. HLH. 1 hit.
[Graphical view]
SMARTSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMSSF47459. SSF47459. 1 hit.
PROSITEPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiMESP2.
GenomeRNAi145873.
NextBio85220.
PROQ0VG99.
SOURCESearch...

Entry information

Entry nameMESP2_HUMAN
AccessionPrimary (citable) accession number: Q0VG99
Secondary accession number(s): Q7RTU2
Entry history
Integrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: March 2, 2010
Last modified: April 16, 2014
This is version 73 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM