MESDC2 mesoderm development candidate 2 [Homo sapiens] - Gene

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Summary

Official Symbol: MESDC2provided by HGNC
Official Full Name: mesoderm development candidate 2provided by HGNC
Primary source: HGNC:13520
Locus tag: UNQ1911/PRO4369
See related: Ensembl:ENSG00000117899; HPRD:12129; MIM:607783; Vega:OTTHUMG00000172288
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BOCA; MESD

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Genomic context

Location :: 15q13

Sequence :: Chromosome: 15; NC_000015.9 (81268095..81282205, complement)

See MESDC2 in Epigenomics, MapViewer

Chromosome 15 - NC_000015.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Results indicate that Mesd is a universal inhibitor of Wnt/LRP signaling on the cell surface.
Title: Mesd is a general inhibitor of different Wnt ligands in Wnt/LRP signaling and inhibits PC-3 tumor growth in vivo.
Results provide evidence that MESD functions as a general LRP chaperone and suggest that the Mesd phenotype results from both signaling and endocytic defects resulting from misfolding of multiple LRP receptors.
Title: MESD is essential for apical localization of megalin/LRP2 in the visceral endoderm.
Two structural and functional domains of MESD required for proper folding and trafficking of LRP5/LRP6.
Title: Two structural and functional domains of MESD required for proper folding and trafficking of LRP5/6.
a high bone mass mutant LRP5(G171V), has subtly reduced Dkk1 binding, and, in contrast to LRP5, no enhancement of binding with MesD
Title: 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).
as a result of (12;15)(q13;q25)translocation, the SUMO/Sentrin-specific protease 1 gene (SENP1) on chromosome 12 and the embryonic polarity-related mesoderm development gene (MESDC2) on chromosome 15 are disrupted and fused
Title: Fusion 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).
Mesd and LRP6 modulate Wnt signaling.
Title: Modulation of LRP6-mediated Wnt signaling by molecular chaperone Mesd.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
Q14696	O75197	LRP5	HPRD	PubMed
BioGRID:116794	BioGRID:107012	ATP6V1E1	BioGRID	PubMed	Two-hybrid
BioGRID:116794	BioGRID:117036	BRD4	BioGRID	PubMed	Two-hybrid
BioGRID:116794	BioGRID:110035	KPNB1	BioGRID	PubMed	Two-hybrid
BioGRID:116794	BioGRID:110220	LRP5	BioGRID	PubMed	Affinity Capture-Western
BioGRID:116794	BioGRID:110219	LRP6	BioGRID	PubMed	Affinity Capture-Western
BioGRID:116794	BioGRID:111659	PSMA5	BioGRID	PubMed	Two-hybrid
BioGRID:116794	BioGRID:111915	RFC3	BioGRID	PubMed	Two-hybrid
BioGRID:116794	BioGRID:118022	SNX5	BioGRID	PubMed	Two-hybrid
BioGRID:116794	BioGRID:119508	SNX7	BioGRID	PubMed	Two-hybrid

Function	Evidence Code	Pubs
low-density lipoprotein particle receptor binding	IEA Inferred from Electronic Annotation more info
molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
Wnt receptor signaling pathway	IEA Inferred from Electronic Annotation more info
mesoderm development	NAS Non-traceable Author Statement more info	PubMed
protein folding	ISS Inferred from Sequence or Structural Similarity more info
protein localization at cell surface	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cellular_component	ND No biological Data available more info
endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: LDLR chaperone MESD

Names: LDLR chaperone MESD; mesoderm development protein; renal carcinoma antigen NY-REN-61

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_015154.1 → NP_055969.1 LDLR chaperone MESD precursor

Status: VALIDATED

Source sequence(s)

AY359110, BE004295, D42039

Consensus CDS

CCDS32308.1

UniProtKB/Swiss-Prot

Q14696

Related

ENSP00000261758, OTTHUMP00000248009, ENST00000261758, OTTHUMT00000417673

Conserved Domains (1) summary

pfam10185
Location:54 – 195
Blast Score: 585

Mesd; Chaperone for wingless signalling and trafficking of LDL receptor

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000015.9 Reference GRCh37.p5 Primary Assembly

Range

81268095..81282205, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000147.1 Alternate HuRef

Range

58026433..58040476, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC068870.17 (32226..46336)	None
genomic	CH471136.2	EAW99109.1
		EAW99110.1
genomic	CS185566.1	CAJ42747.1
mRNA	AK026606.1	None
mRNA	AY359110.1	AAQ89468.1
mRNA	BC009210.2	AAH09210.1
mRNA	BC012746.2	AAH12746.1
mRNA	BE004295.1	None
mRNA	D42039.2	BAA07640.2