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Aliases for MESP2 Gene

Aliases for MESP2 Gene

  • Mesoderm Posterior Basic Helix-Loop-Helix Transcription Factor 2 2 3
  • SCDO2 3 4 6
  • Class C Basic Helix-Loop-Helix Protein 6 3 4
  • BHLHc6 3 4
  • Mesoderm Posterior 2 Homolog (Mouse) 2
  • Mesoderm Posterior 2 Homolog 3
  • Mesoderm Posterior Protein 2 3

External Ids for MESP2 Gene

Summaries for MESP2 Gene

Entrez Gene Summary for MESP2 Gene

  • This gene encodes a member of the bHLH family of transcription factors and plays a key role in defining the rostrocaudal patterning of somites via interactions with multiple Notch signaling pathways. This gene is expressed in the anterior presomitic mesoderm and is downregulated immediately after the formation of segmented somites. This gene also plays a role in the formation of epithelial somitic mesoderm and cardiac mesoderm. Mutations in the MESP2 gene cause autosomal recessive spondylocostal dystosis 2 (SCD02). [provided by RefSeq, Oct 2008]

GeneCards Summary for MESP2 Gene

MESP2 (Mesoderm Posterior Basic Helix-Loop-Helix Transcription Factor 2) is a Protein Coding gene. Diseases associated with MESP2 include spondylocostal dysostosis 2 and spondylocostal dysostosis, autosomal recessive. Among its related pathways are Cardiac Progenitor Differentiation. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and protein dimerization activity. An important paralog of this gene is MESP1.

UniProtKB/Swiss-Prot for MESP2 Gene

  • 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

Gene Wiki entry for MESP2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MESP2 Gene

Genomics for MESP2 Gene

Genomic Location for MESP2 Gene

Start:
89,760,591 bp from pter
End:
89,778,754 bp from pter
Size:
18,164 bases
Orientation:
Plus strand

Genomic View for MESP2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MESP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MESP2 Gene

Regulatory Elements for MESP2 Gene

Proteins for MESP2 Gene

  • Protein details for MESP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q0VG99-MESP2_HUMAN
    Recommended name:
    Mesoderm posterior protein 2
    Protein Accession:
    Q0VG99
    Secondary Accessions:
    • Q7RTU2

    Protein attributes for MESP2 Gene

    Size:
    397 amino acids
    Molecular mass:
    41760 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=DAA00304.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for MESP2 Gene

Proteomics data for MESP2 Gene at MOPED

Post-translational modifications for MESP2 Gene

Other Protein References for MESP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MESP2 Gene

Domains for MESP2 Gene

Gene Families for MESP2 Gene

HGNC:
  • bHLH :Basic helix-loop-helix proteins

Protein Domains for MESP2 Gene

UniProtKB/Swiss-Prot:

MESP2_HUMAN
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.:
    • Q0VG99
genes like me logo Genes that share domains with MESP2: view

Function for MESP2 Gene

Molecular function for MESP2 Gene

UniProtKB/Swiss-Prot 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

Gene Ontology (GO) - Molecular Function for MESP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003700 sequence-specific DNA binding transcription factor activity IEA --
GO:0046983 protein dimerization activity IEA --
genes like me logo Genes that share ontologies with MESP2: view
genes like me logo Genes that share phenotypes with MESP2: view

Animal Models for MESP2 Gene

MGI Knock Outs for MESP2:

miRNA for MESP2 Gene

miRTarBase miRNAs that target MESP2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for MESP2 Gene

Localization for MESP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MESP2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MESP2 Gene COMPARTMENTS Subcellular localization image for MESP2 gene
Compartment Confidence
nucleus 3

Gene Ontology (GO) - Cellular Components for MESP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with MESP2: view

Pathways for MESP2 Gene

genes like me logo Genes that share pathways with MESP2: view

Pathways by source for MESP2 Gene

1 BioSystems pathway for MESP2 Gene

Interacting Proteins for MESP2 Gene

Gene Ontology (GO) - Biological Process for MESP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001756 somitogenesis --
GO:0006351 transcription, DNA-templated IEA --
GO:0007219 Notch signaling pathway IEA --
GO:0008078 mesodermal cell migration IEA --
GO:0023019 signal transduction involved in regulation of gene expression IEA --
genes like me logo Genes that share ontologies with MESP2: view

Transcripts for MESP2 Gene

mRNA/cDNA for MESP2 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(18) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MESP2 Gene

Mesoderm posterior 2 homolog (mouse):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MESP2 Gene

No ASD Table

Relevant External Links for MESP2 Gene

GeneLoc Exon Structure for
MESP2
ECgene alternative splicing isoforms for
MESP2

Expression for MESP2 Gene

mRNA expression in normal human tissues for MESP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

SOURCE GeneReport for Unigene cluster for MESP2 Gene Hs.37311

genes like me logo Genes that share expressions with MESP2: view

Orthologs for MESP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MESP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MESP2 36
  • 99.23 (n)
  • 98.46 (a)
MESP2 37
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MESP2 36
  • 80.6 (n)
  • 71.86 (a)
MESP2 37
  • 70 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 37
  • 47 (a)
ManyToMany
MESP2 36
  • 81.27 (n)
  • 71.16 (a)
mouse
(Mus musculus)
Mammalia Mesp2 36
  • 74.98 (n)
  • 66.85 (a)
Mesp2 16
Mesp2 37
  • 65 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MESP2 37
  • 37 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mesp2 36
  • 74.02 (n)
  • 65.12 (a)
zebrafish
(Danio rerio)
Actinopterygii BX572619.4 37
  • 26 (a)
ManyToMany
mespaa 37
  • 27 (a)
ManyToMany
mespab 37
  • 26 (a)
ManyToMany
mespba 37
  • 30 (a)
ManyToMany
mespbb 37
  • 30 (a)
ManyToMany
Species with no ortholog for MESP2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MESP2 Gene

ENSEMBL:
Gene Tree for MESP2 (if available)
TreeFam:
Gene Tree for MESP2 (if available)

Paralogs for MESP2 Gene

Paralogs for MESP2 Gene

Selected SIMAP similar genes for MESP2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MESP2: view

Variants for MESP2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for MESP2 Gene

Q0VG99-MESP2_HUMAN
The number of GQ repeats at position 179 is polymorphic

Sequence variations from dbSNP and Humsavar for MESP2 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs3840032 -- 89,778,464(-) GCTTC(-/TTC)CCTGA utr-variant-3-prime
rs6496601 -- 89,774,463(+) CCTTT(C/T)CCCAA upstream-variant-2KB
rs6496602 -- 89,774,566(+) ACACA(A/G)TCCCA upstream-variant-2KB
rs8033639 -- 89,775,057(+) ctgtt(C/T)caaaa upstream-variant-2KB
rs8033966 -- 89,775,459(+) ccacc(A/G)tgcct upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for MESP2 Gene

Variant ID Type Subtype PubMed ID
dgv2434n71 CNV Loss 21882294
esv2750008 CNV Deletion 23290073
esv2750009 CNV Deletion 23290073

Relevant External Links for MESP2 Gene

HapMap Linkage Disequilibrium report
MESP2
Human Gene Mutation Database (HGMD)
MESP2

Disorders for MESP2 Gene

(1) OMIM Diseases for MESP2 Gene (605195)

UniProtKB/Swiss-Prot

MESP2_HUMAN
  • 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. {ECO:0000269 PubMed:15122512}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for MESP2 Gene

Relevant External Links for MESP2

GeneTests
MESP2
GeneReviews
MESP2
genes like me logo Genes that share disorders with MESP2: view

Publications for MESP2 Gene

  1. Transcriptional regulation of Mesp1 and Mesp2 genes: differential usage of enhancers during development. (PMID: 11578861) Haraguchi S. … Saga Y. (Mech. Dev. 2001) 2 3 23
  2. Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening. (PMID: 14516699) McLellan A.S. … Kealey T. (Mech. Dev. 2002) 3 4
  3. Mutated MESP2 causes spondylocostal dysostosis in humans. (PMID: 15122512) Whittock N.V. … Turnpenny P.D. (Am. J. Hum. Genet. 2004) 3 4
  4. Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho- Levin syndrome. (PMID: 18485326) Cornier A.S. … Pourquie O. (Am. J. Hum. Genet. 2008) 3 4
  5. Congenital Diaphragmatic Hernia Overview (PMID: 20301533) Pagon R.A. … Stephens K. ( 1993) 3

Products for MESP2 Gene

Sources for MESP2 Gene

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