Human Gene MESP2 (uc002bon.3) Description and Page Index
  Description: Homo sapiens mesoderm posterior 2 homolog (mouse) (MESP2), mRNA.
RefSeq Summary (NM_001039958): 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]. ##Evidence-Data-START## Transcript exon combination :: BC111413.1, SRR1803613.386327.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968832 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000341735.5/ ENSP00000342392.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr15:90,319,589-90,321,982 Size: 2,394 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg19 chr15:90,319,589-90,321,565 Size: 1,977 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:90,319,589-90,321,982)mRNA (may differ from genome)Protein (397 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDLynxMGIneXtProt
OMIMPubMedStanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: MESP2_HUMAN
DESCRIPTION: RecName: Full=Mesoderm posterior protein 2; AltName: Full=Class C basic helix-loop-helix protein 6; Short=bHLHc6;
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).
PTM: Degraded by the proteasome (By similarity).
POLYMORPHISM: The number of GQ repeats at position 179 is polymorphic.
DISEASE: Defects in MESP2 are the cause of spondylocostal dysostosis type 2 (SCDO2) [MIM:608681]. An autosomal recessive 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.
SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) domain.
SEQUENCE CAUTION: Sequence=DAA00304.1; Type=Erroneous gene model prediction;
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MESP2";

-  MalaCards Disease Associations
  MalaCards Gene Search: MESP2
Diseases sorted by gene-association score: spondylocostal dysostosis 2, autosomal recessive* (919), spondylocostal dysostosis, autosomal recessive* (550), spondylocostal dysostosis 2* (419), mesp2-related spondylocostal dysostosis, autosomal recessive* (100), spondylocostal dysostosis 3, autosomal recessive* (84), spondylocostal dysostosis 5* (58), scoliosis (10), dysostosis (10), alagille syndrome 1 (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.67 RPKM in Testis
Total median expression: 9.14 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -150.85417-0.362 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011598 - HLH_dom

Pfam Domains:
PF00010 - Helix-loop-helix DNA-binding domain

SCOP Domains:
47459 - HLH, helix-loop-helix DNA-binding domain

ModBase Predicted Comparative 3D Structure on Q0VG99
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003677 DNA binding
GO:0046983 protein dimerization activity

Biological Process:
GO:0001707 mesoderm formation
GO:0001756 somitogenesis
GO:0003007 heart morphogenesis
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0007219 Notch signaling pathway
GO:0007275 multicellular organism development
GO:0009880 embryonic pattern specification
GO:0045944 positive regulation of transcription from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  AL360139 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 231282.
KJ903837 - Synthetic construct Homo sapiens clone ccsbBroadEn_13231 MESP2 gene, encodes complete protein.
BC111413 - Homo sapiens mesoderm posterior 2 homolog (mouse), mRNA (cDNA clone MGC:133018 IMAGE:40004357), complete cds.
JD402042 - Sequence 383066 from Patent EP1572962.
JD289589 - Sequence 270613 from Patent EP1572962.
JD193188 - Sequence 174212 from Patent EP1572962.
JD061070 - Sequence 42094 from Patent EP1572962.
JD438362 - Sequence 419386 from Patent EP1572962.
JD344016 - Sequence 325040 from Patent EP1572962.
JD223046 - Sequence 204070 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: BHLHC6, MESP2_HUMAN, NM_001039958, NP_001035047, Q0VG99, Q7RTU2, SCDO2
UCSC ID: uc002bon.3
RefSeq Accession: NM_001039958
Protein: Q0VG99 (aka MESP2_HUMAN)
CCDS: CCDS42078.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene MESP2:
cdh-ov (Congenital Diaphragmatic Hernia Overview)
spondylocostal-d (Spondylocostal Dysostosis, Autosomal Recessive)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001039958.1
exon count: 2CDS single in 3' UTR: no RNA size: 1614
ORF size: 1194CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2419.00frame shift in genome: no % Coverage: 99.81
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.