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Aliases for MESP2 Gene

Aliases for MESP2 Gene

  • Mesoderm Posterior BHLH Transcription Factor 2 2 3 5
  • Mesoderm Posterior Basic Helix-Loop-Helix Transcription Factor 2 2 3
  • Class C Basic Helix-Loop-Helix Protein 6 3 4
  • BHLHc6 3 4
  • SCDO2 3 4
  • Mesoderm Posterior 2 Homolog (Mouse) 2
  • Mesoderm Posterior 2 Homolog 3
  • Mesoderm Posterior Protein 2 3

External Ids for MESP2 Gene

Previous GeneCards Identifiers for MESP2 Gene

  • GC15P083669
  • GC15P087891
  • GC15P088049
  • GC15P088120
  • GC15P090319
  • GC15P066432

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 BHLH Transcription Factor 2) is a Protein Coding gene. Diseases associated with MESP2 include Spondylocostal Dysostosis 2, Autosomal Recessive and Spondylocostal Dysostosis, Autosomal Recessive. Among its related pathways are Cardiac Progenitor Differentiation. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding 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

Regulatory Elements for MESP2 Gene

Enhancers for MESP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15F089846 1.4 FANTOM5 Ensembl ENCODE 11.7 +89.5 89496 6.5 BCOR ZNF146 JUN ZMYM3 FEZF1 ZNF664 ZNF316 GATA3 ZBTB48 POLR2A AP3S2 MESP1 MESP2 ANPEP PLIN1 WDR93 ZNF710 CIB1 MIR5094 LOC105370965
GH15F089844 1.3 Ensembl ENCODE 11.7 +85.0 84985 2.4 HDGF ATF1 PKNOX1 CREB3L1 ARID4B SIN3A ZNF48 YY1 ZNF121 GLIS2 AP3S2 ANPEP MESP1 MESP2 MIR5094 LOC105370965
GH15F089855 1.1 ENCODE 11.8 +100.6 100628 10.6 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 YY1 SLC30A9 ZNF766 AP3S2 POLG RNU6-1111P RNU7-111P ARPIN C15orf38-AP3S2 LOC100631255 MESP2 MESP1 ZNF710
GH15F089780 1.7 FANTOM5 Ensembl ENCODE 6.4 +22.8 22794 6.0 PKNOX1 ARID4B SIN3A YY1 ZNF207 FOS KLF13 PAF1 ZHX2 REST MESP1 ZNF710 ENSG00000228998 NIFKP5 HAPLN3 WDR93 MESP2 PEX11A CIB1 POLG
GH15F089834 0.9 Ensembl ENCODE 11.9 +76.3 76282 4.0 ZNF280D RFX1 CBX3 DPF2 RAD21 GATA3 JUND CBX1 CBX5 SMC3 AP3S2 ANPEP MESP2 MESP1 MIR5094 LOC105370965
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MESP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for MESP2 Gene

Chromosome:
15
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

Genes around MESP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MESP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MESP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

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 & Families for MESP2 Gene

Gene Families for MESP2 Gene

Protein Domains for MESP2 Gene

Suggested Antigen Peptide Sequences for MESP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q0VG99

UniProtKB/Swiss-Prot:

MESP2_HUMAN :
  • Contains 1 bHLH (basic helix-loop-helix) domain.
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.
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: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

Human Phenotype Ontology for MESP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MESP2 Gene

MGI Knock Outs for MESP2:

Animal Model Products

miRNA for MESP2 Gene

miRTarBase miRNAs that target MESP2

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Localization for MESP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MESP2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MESP2 gene
Compartment Confidence
extracellular 5
nucleus 5

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 & Interactions 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

Gene Ontology (GO) - Biological Process for MESP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007219 Notch signaling pathway IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with MESP2: view

No data available for SIGNOR curated interactions for MESP2 Gene

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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for MESP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of MESP2 Gene:

MESP2

SOURCE GeneReport for Unigene cluster for MESP2 Gene:

Hs.37311
genes like me logo Genes that share expression patterns with MESP2: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for MESP2 Gene

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 34 35
  • 99.23 (n)
dog
(Canis familiaris)
Mammalia MESP2 34
  • 81.27 (n)
-- 35
  • 47 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia MESP2 34 35
  • 80.6 (n)
mouse
(Mus musculus)
Mammalia Mesp2 34 16 35
  • 74.98 (n)
rat
(Rattus norvegicus)
Mammalia Mesp2 34
  • 74.02 (n)
oppossum
(Monodelphis domestica)
Mammalia MESP2 35
  • 37 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii mespba 35
  • 30 (a)
ManyToMany
mespbb 35
  • 30 (a)
ManyToMany
mespaa 35
  • 27 (a)
ManyToMany
BX572619.4 35
  • 26 (a)
ManyToMany
mespab 35
  • 26 (a)
ManyToMany
Species where no ortholog for MESP2 was found in the sources mined by GeneCards:
  • 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

(2) 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

MESP2_HUMAN-Q0VG99
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
rs113994156 Pathogenic 89,776,628(+) GGGAG(A/G)AACTG reference, missense
rs113994157 Pathogenic 89,776,742(+) TGGCC(A/G/T)TCCGC reference, missense
rs113994158 Pathogenic 89,776,860(+) GACCG(-/ACCG)TGGCC reference, frameshift-variant
rs118204034 Pathogenic 89,776,598(+) CGGGC(G/T)GACAG reference, stop-gained
rs118204035 Pathogenic 89,777,057(+) CACCC(G/T)AGCGC reference, stop-gained

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

Variant ID Type Subtype PubMed ID
esv2750008 CNV deletion 23290073
esv2750009 CNV deletion 23290073
nsv570388 CNV loss 21841781

Variation tolerance for MESP2 Gene

Gene Damage Index Score: 5.37; 70.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MESP2 Gene

Human Gene Mutation Database (HGMD)
MESP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MESP2

Disorders for MESP2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for MESP2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MESP2 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for MESP2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MESP2
genes like me logo Genes that share disorders with MESP2: view

No data available for Genatlas for MESP2 Gene

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 22 64
  2. 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 64
  3. Mutated MESP2 causes spondylocostal dysostosis in humans. (PMID: 15122512) Whittock N.V. … Turnpenny P.D. (Am. J. Hum. Genet. 2004) 3 4 64
  4. 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 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for MESP2 Gene

Sources for MESP2 Gene

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