MESD (mesoderm development LRP chaperone)

2017-08-01 Affiliation

Identity

HGNC

MESD

LOCATION

15q25.1

LOCUSID

23184

ALIAS

BOCA,MESDC2,OI20

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000117899	ENST00000261758	Q14696
ENSG00000117899	ENST00000422879	Q14696
ENSG00000117899	ENST00000559537	H0YLI4
ENSG00000117899	ENST00000561312	Q14696
ENSG00000117899	ENST00000619987	Q14696

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
33596325	2021	Compound Heterozygous Frameshift Mutations in MESD Cause a Lethal Syndrome Suggestive of Osteogenesis Imperfecta Type XX.	7
33596325	2021	Compound Heterozygous Frameshift Mutations in MESD Cause a Lethal Syndrome Suggestive of Osteogenesis Imperfecta Type XX.	7
31564437	2019	Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.	26
31564437	2019	Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.	26
23469146	2013	The C-terminal region Mesd peptide mimics full-length Mesd and acts as an inhibitor of Wnt/β-catenin signaling in cancer cells.	9
23469146	2013	The C-terminal region Mesd peptide mimics full-length Mesd and acts as an inhibitor of Wnt/β-catenin signaling in cancer cells.	9
21337463	2011	MESD is essential for apical localization of megalin/LRP2 in the visceral endoderm.	9
21397183	2011	Two structural and functional domains of MESD required for proper folding and trafficking of LRP5/6.	10
21907199	2011	Mesd is a general inhibitor of different Wnt ligands in Wnt/LRP signaling and inhibits PC-3 tumor growth in vivo.	20
21337463	2011	MESD is essential for apical localization of megalin/LRP2 in the visceral endoderm.	9
21397183	2011	Two structural and functional domains of MESD required for proper folding and trafficking of LRP5/6.	10
21907199	2011	Mesd is a general inhibitor of different Wnt ligands in Wnt/LRP signaling and inhibits PC-3 tumor growth in vivo.	20
19746449	2009	A 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).	3
19746449	2009	A 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).	3
16989816	2006	Modulation of LRP6-mediated Wnt signaling by molecular chaperone Mesd.	13

Citation

Dessen P

MESD (mesoderm development LRP chaperone)

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

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