MESD (mesoderm development LRP chaperone)

2017-08-01  

Identity

HGNC
LOCATION
15q25.1
LOCUSID
ALIAS
BOCA,MESDC2,OI20

Other Information

Locus ID:

NCBI: 23184
MIM: 607783
HGNC: 13520
Ensembl: ENSG00000117899

Variants:

dbSNP: 23184
ClinVar: 23184
TCGA: ENSG00000117899
COSMIC: MESD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000117899ENST00000261758Q14696
ENSG00000117899ENST00000422879Q14696
ENSG00000117899ENST00000559537H0YLI4
ENSG00000117899ENST00000561312Q14696
ENSG00000117899ENST00000619987Q14696

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
219071992011Mesd is a general inhibitor of different Wnt ligands in Wnt/LRP signaling and inhibits PC-3 tumor growth in vivo.18
169898162006Modulation of LRP6-mediated Wnt signaling by molecular chaperone Mesd.11
213374632011MESD is essential for apical localization of megalin/LRP2 in the visceral endoderm.8
213971832011Two structural and functional domains of MESD required for proper folding and trafficking of LRP5/6.7
234691462013The C-terminal region Mesd peptide mimics full-length Mesd and acts as an inhibitor of Wnt/β-catenin signaling in cancer cells.7
159172692005Fusion of the SUMO/Sentrin-specific protease 1 gene SENP1 and the embryonic polarity-related mesoderm development gene MESDC2 in a patient with an infantile teratoma and a constitutional t(12;15)(q13;q25).2
197464492009A cell-based Dkk1 binding assay reveals roles for extracellular domains of LRP5 in Dkk1 interaction and highlights differences between wild-type and the high bone mass mutant LRP5(G171V).2
315644372019Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.1

Citation

Dessen P

MESD (mesoderm development LRP chaperone)

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

Online version: http://atlasgeneticsoncology.org/gene/56962/mesd