Aliases for MESD Gene

Aliases for MESD Gene

  • Mesoderm Development LRP Chaperone 2 3 5
  • Mesoderm Development Candidate 2 2 3 4
  • Mesoderm Development LRP Chaperone MESD 3 4
  • Renal Carcinoma Antigen NY-REN-61 3 4
  • Mesoderm Development Protein 3 4
  • LDLR Chaperone MESD 3 4
  • LRP Chaperone MESD 3 4
  • KIAA0081 2 4
  • MESDC2 3 4
  • BOCA 2 3
  • MESDM 4
  • OI20 3
  • MESD 5

External Ids for MESD Gene

Previous HGNC Symbols for MESD Gene

  • MESDC2

Summaries for MESD Gene

GeneCards Summary for MESD Gene

MESD (Mesoderm Development LRP Chaperone) is a Protein Coding gene. Diseases associated with MESD include Osteogenesis Imperfecta, Type Xx and Epilepsy, Nocturnal Frontal Lobe, 2. Among its related pathways are Wnt / Hedgehog / Notch.

UniProtKB/Swiss-Prot Summary for MESD Gene

  • Chaperone specifically assisting the folding of beta-propeller/EGF modules within the family of low-density lipoprotein receptors (LDLRs) (PubMed:15014448). Acts as a modulator of the Wnt pathway through chaperoning the coreceptors of the canonical Wnt pathway, LRP5 and LRP6, to the plasma membrane (PubMed:17488095). Essential for specification of embryonic polarity and mesoderm induction. Plays an essential role in neuromuscular junction (NMJ) formation by promoting cell-surface expression of LRP4 (By similarity). May regulate phagocytosis of apoptotic retinal pigment epithelium (RPE) cells (By similarity).

Gene Wiki entry for MESD Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MESD Gene

Genomics for MESD Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MESD Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J080987 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 612.4 +0.4 423 5.6 CREB1 PRDM10 ZNF629 TFE3 IKZF1 ZNF692 POLR2A NFRKB BACH1 ZHX2 MESD lnc-TLNRD1-3 TLNRD1 ENSG00000260619 ENSG00000259546 CEMIP
GH15J080999 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.8 -11.4 -11429 4.5 RNF2 CREB1 HNRNPL ZNF629 IKZF1 KDM1A ZNF692 POLR2A BACH1 ZHX2 TLNRD1 ENSG00000277782 piR-51813 CFAP161 MESD
GH15J081029 Enhancer 0.9 FANTOM5 Ensembl 22.1 -40.4 -40373 2.8 BACH1 DPF2 CBX3 HMBOX1 NFE2 ZNF316 MAFF MAFK TRIM28 TRIM24 TLNRD1 MESD STARD5 lnc-MESD-3 HSALNG0107633 CFAP161 IL16
GH15J081022 Enhancer 1.5 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 12 -34.1 -34074 2.6 SP1 POLR2A BACH1 STAT3 JUND RELA TCF12 IKZF2 TRIM22 PKNOX1 TLNRD1 MESD STARD5 lnc-MESD-3 CFAP161 HSALNG0107633 IL16
GH15J080984 Promoter/Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 11.2 +4.7 4682 1.9 CREB1 PRDM1 IKZF2 ZNF600 EED PAX8 ZSCAN29 NCOR1 SPI1 POLR2A TLNRD1 MESD STARD5 ENSG00000259546 CEMIP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MESD on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for MESD Gene

Genomic Locations for MESD Gene
chr15:80,946,289-80,989,828
(GRCh38/hg38)
Size:
43,540 bases
Orientation:
Minus strand
chr15:81,239,667-81,282,219
(GRCh37/hg19)
Size:
42,553 bases
Orientation:
Minus strand

Genomic View for MESD Gene

Genes around MESD on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MESD Gene

Proteins for MESD Gene

  • Protein details for MESD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14696-MESD_HUMAN
    Recommended name:
    LRP chaperone MESD
    Protein Accession:
    Q14696
    Secondary Accessions:
    • B4DW84
    • D3DW96
    • Q969U1

    Protein attributes for MESD Gene

    Size:
    234 amino acids
    Molecular mass:
    26077 Da
    Quaternary structure:
    • Monomer. Interacts with LRP5; the interaction prevents LRP5 from forming aggregates and chaperones LRP6 to the plasma membrane (PubMed:17488095). Interacts with LRP6; the interaction prevents LRP6 from forming aggregates and chaperones LRP6 to the plasma membrane (PubMed:17488095). Interacts with LRP4; the interaction promotes glycosylation of LRP4 and its cell-surface expression (By similarity).
    SequenceCaution:
    • Sequence=BAA07640.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for MESD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MESD Gene

Post-translational modifications for MESD Gene

  • Glycosylation at Ser88 and Asn201
  • Modification sites at PhosphoSitePlus

Other Protein References for MESD Gene

No data available for DME Specific Peptides for MESD Gene

Domains & Families for MESD Gene

Gene Families for MESD Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MESD Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MESD Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50892, moderately similar to Mesoderm development candidate 2 (B4DW84_HUMAN)
  • Renal carcinoma antigen NY-REN-61 (MESD_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14696

UniProtKB/Swiss-Prot:

MESD_HUMAN :
  • The chaperone domain provides a folding template for proper folding of the beta-propeller (BP) domains of LRP5/6.
  • Belongs to the MESD family.
Domain:
  • The chaperone domain provides a folding template for proper folding of the beta-propeller (BP) domains of LRP5/6.
  • The escort domain ensures LRP5/6 safe-trafficking from the ER to the Golgi by preventing premature ligand-binding.
Family:
  • Belongs to the MESD family.
genes like me logo Genes that share domains with MESD: view

Function for MESD Gene

Molecular function for MESD Gene

UniProtKB/Swiss-Prot Function:
Chaperone specifically assisting the folding of beta-propeller/EGF modules within the family of low-density lipoprotein receptors (LDLRs) (PubMed:15014448). Acts as a modulator of the Wnt pathway through chaperoning the coreceptors of the canonical Wnt pathway, LRP5 and LRP6, to the plasma membrane (PubMed:17488095). Essential for specification of embryonic polarity and mesoderm induction. Plays an essential role in neuromuscular junction (NMJ) formation by promoting cell-surface expression of LRP4 (By similarity). May regulate phagocytosis of apoptotic retinal pigment epithelium (RPE) cells (By similarity).

Phenotypes From GWAS Catalog for MESD Gene

Gene Ontology (GO) - Molecular Function for MESD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0042802 identical protein binding IEA --
GO:0050750 low-density lipoprotein particle receptor binding IBA 21873635
genes like me logo Genes that share ontologies with MESD: view
genes like me logo Genes that share phenotypes with MESD: view

Animal Models for MESD Gene

MGI Knock Outs for MESD:

Animal Model Products

  • Taconic Biosciences Mouse Models for MESD

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MESD

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MESD Gene

Localization for MESD Gene

Subcellular locations from UniProtKB/Swiss-Prot for MESD Gene

Endoplasmic reticulum. Note=Released from apoptotic cells and shed photoreceptor outer segments. {ECO:0000250 UniProtKB:Q9ERE7}.

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 MESD gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
extracellular 3
cytosol 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Endoplasmic reticulum (3)
  • Nuclear bodies (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MESD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005783 endoplasmic reticulum IEA,IMP 31564437
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with MESD: view

Pathways & Interactions for MESD Gene

PathCards logo

SuperPathways for MESD Gene

SuperPathway Contained pathways
1 Wnt / Hedgehog / Notch
genes like me logo Genes that share pathways with MESD: view

Pathways by source for MESD Gene

1 Cell Signaling Technology pathway for MESD Gene

Gene Ontology (GO) - Biological Process for MESD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IMP 31564437
GO:0006457 protein folding ISS --
GO:0006909 phagocytosis ISS --
GO:0007498 mesoderm development NAS 11247670
GO:0016055 Wnt signaling pathway IEA --
genes like me logo Genes that share ontologies with MESD: view

No data available for SIGNOR curated interactions for MESD Gene

Drugs & Compounds for MESD Gene

No Compound Related Data Available

Transcripts for MESD Gene

mRNA/cDNA for MESD Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MESD

Alternative Splicing Database (ASD) splice patterns (SP) for MESD Gene

No ASD Table

Relevant External Links for MESD Gene

GeneLoc Exon Structure for
MESD

Expression for MESD Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MESD

Evidence on tissue expression from TISSUES for MESD Gene

  • Skin(4.5)
  • Liver(4.3)
  • Bone marrow(4.2)
  • Nervous system(4)
  • Stomach(4)
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MESD Gene

Orthologs for MESD Gene

This gene was present in the common ancestor of animals.

Orthologs for MESD Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MESDC2 30 31
  • 99.86 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MESDC2 30 31
  • 86.3 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MESDC2 30 31
  • 84.91 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mesdc2 30 31
  • 82.59 (n)
OneToOne
Mesd 17
Rat
(Rattus norvegicus)
Mammalia Mesdc2 30
  • 82.14 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 77 (a)
OneToMany
-- 31
  • 60 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia MESDC2 31
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MESDC2 30 31
  • 71.47 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MESDC2 31
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mesdc2 30
  • 71.15 (n)
Str.15051 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.25732 30
Zebrafish
(Danio rerio)
Actinopterygii mesdc2 30 31
  • 75.41 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.948 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005081 30
  • 58.33 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta boca 30 31
  • 57.24 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea bmy-1 30 31
  • 49.31 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 51 (a)
OneToOne
Species where no ortholog for MESD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Wheat (Triticum aestivum)

Evolution for MESD Gene

ENSEMBL:
Gene Tree for MESD (if available)
TreeFam:
Gene Tree for MESD (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MESD: view image

Paralogs for MESD Gene

Pseudogenes.org Pseudogenes for MESD Gene

genes like me logo Genes that share paralogs with MESD: view

No data available for Paralogs for MESD Gene

Variants for MESD Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MESD Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
692262 Pathogenic: Osteogenesis imperfecta, type 20 80,979,291(-) C/CT FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
692263 Pathogenic: Osteogenesis imperfecta, type 20 80,979,248(-) G/A NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
692264 Pathogenic: Osteogenesis imperfecta, type 20 80,979,291(-) CTT/C FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
692265 Pathogenic: Osteogenesis imperfecta, type 20 80,979,312(-) CTTTGT/C FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
804686 Benign: not provided 80,948,905(-) TGAA/T INFRAME_DELETION

Additional dbSNP identifiers (rs#s) for MESD Gene

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

Variant ID Type Subtype PubMed ID
nsv1071224 CNV deletion 25765185

Variation tolerance for MESD Gene

Residual Variation Intolerance Score: 53.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.58; 30.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MESD Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MESD Gene

Disorders for MESD Gene

MalaCards: The human disease database

(5) MalaCards diseases for MESD Gene - From: OMIM, ClinVar, and DISEASES

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

UniProtKB/Swiss-Prot

MESD_HUMAN
  • Osteogenesis imperfecta 20 (OI20) [MIM:618644]: An autosomal recessive form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI20 is a progressive deforming form characterized by osteopenia, skeletal deformity, healed fractures, and newly-acquired fractures. Death due to respiratory failure can occur in some patients. {ECO:0000269 PubMed:31564437}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with MESD: view

No data available for Genatlas for MESD Gene

Publications for MESD Gene

  1. Boca-dependent maturation of beta-propeller/EGF modules in low-density lipoprotein receptor proteins. (PMID: 15014448) Culi J … Mann RS (The EMBO journal 2004) 2 3 4
  2. Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 7788527) Nagase T … Kotani H (DNA research : an international journal for rapid publication of reports on genes and genomes 1995) 2 3 4
  3. Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta. (PMID: 31564437) Moosa S … Netzer C (American journal of human genetics 2019) 3 4
  4. Development of a conditional Mesd (mesoderm development) allele for functional analysis of the low-density lipoprotein receptor-related family in defined tissues. (PMID: 24124512) Taibi AV … Holdener BC (PloS one 2013) 2 3
  5. 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). (PMID: 15917269) Veltman IM … van Kessel AG (Human molecular genetics 2005) 3 23

Products for MESD Gene

  • Signalway ELISA kits for MESD

Sources for MESD Gene