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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
  • MESDC2 3 4
  • LRP Chaperone MESD 3
  • KIAA0081 4
  • MESDM 4
  • BOCA 3

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 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2. Among its related pathways are Wnt / Hedgehog / Notch.

UniProtKB/Swiss-Prot for MESD Gene

  • Chaperone specifically assisting the folding of beta-propeller/EGF modules within the family of low-density lipoprotein receptors (LDLRs). Acts as a modulator of the Wnt pathway through chaperoning the coreceptors of the canonical Wnt pathway, LRP5 and LRP6, to the plasma membrane. 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

Additional gene information for MESD Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MESD Gene

Genomics for MESD Gene

GeneHancer (GH) Regulatory Elements for MESD Gene

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
GH15J080988 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 662.5 -0.2 -225 4.2 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 MESD TLNRD1 ENSG00000260619
GH15J080999 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 12.7 -11.5 -11545 4.2 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B ZNF766 TLNRD1 ENSG00000277782 PIR45812 GC15M081000 CFAP161 MESD
GH15J081029 Enhancer 1 FANTOM5 Ensembl 22.1 -40.1 -40123 1.2 JUN MAX BACH1 ZNF280A ZNF316 NFATC1 FOS NFE2 TRIM24 MAFK GC15M081029 TLNRD1 MESD STARD5 GC15P081022 CFAP161
GH15J081022 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12 -34.1 -34122 2.8 HDGF PKNOX1 STAT5A BMI1 BATF KLF5 IRF4 ATF7 ETV6 BCLAF1 GC15P081022 TLNRD1 MESD STARD5 GC15M081029 CFAP161
GH15J080984 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 11.3 +4.7 4732 1.9 ZNF687 CBFA2T3 PAX8 PRDM6 NCOR1 EED IKZF1 CREB1 ZSCAN29 ZNF600 TLNRD1 MESD STARD5 GC15M080956
- 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 UCSC Golden Path with GeneCards custom track

Genomic Locations for MESD Gene

Genomic Locations for MESD Gene
chr15:80,946,289-80,989,878
(GRCh38/hg38)
Size:
43,590 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=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for MESD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MESD Gene

Post-translational modifications for MESD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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 secreted proteins

Protein Domains for MESD Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MESD Gene

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). Acts as a modulator of the Wnt pathway through chaperoning the coreceptors of the canonical Wnt pathway, LRP5 and LRP6, to the plasma membrane. 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 IEA --
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

Clone Products

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 4
extracellular 3
plasma membrane 2
cytosol 2

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 --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with MESD: view

Pathways & Interactions 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:0006457 protein folding ISS --
GO:0006909 phagocytosis ISS --
GO:0007498 mesoderm development NAS 11247670
GO:0016055 Wnt signaling pathway IEA --
GO:0034394 protein localization to cell surface ISS --
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

Clone Products

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

No ASD Table

Relevant External Links for MESD Gene

GeneLoc Exon Structure for
MESD
ECgene alternative splicing isoforms for
MESD

Expression for MESD Gene

NURSA nuclear receptor signaling pathways regulating expression of MESD Gene:

MESD

Evidence on tissue expression from TISSUES for MESD Gene

  • Skin(4.4)
  • Liver(4.2)
  • Bone marrow(4.1)
  • Stomach(3.8)
  • Nervous system(3.7)
No Expression Related Data Available

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 34 33
  • 99.86 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MESDC2 34 33
  • 86.3 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MESDC2 34 33
  • 84.91 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mesdc2 34 33
  • 82.59 (n)
OneToOne
Mesd 16
rat
(Rattus norvegicus)
Mammalia Mesdc2 33
  • 82.14 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 77 (a)
OneToMany
-- 34
  • 60 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia MESDC2 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves MESDC2 34 33
  • 71.47 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MESDC2 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mesdc2 33
  • 71.15 (n)
Str.15051 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.25732 33
zebrafish
(Danio rerio)
Actinopterygii mesdc2 34 33
  • 75.41 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.948 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005081 33
  • 58.33 (n)
fruit fly
(Drosophila melanogaster)
Insecta boca 34 33
  • 57.24 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea bmy-1 34 33
  • 49.31 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 51 (a)
OneToOne
Species where no ortholog for MESD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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 from dbSNP and Humsavar for MESD Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000028809 -- 80,986,603(-) T/C intron_variant
rs1000038399 -- 80,979,851(-) T/G intron_variant
rs1000089915 -- 80,953,229(-) G/C genic_downstream_transcript_variant, intron_variant
rs1000164765 -- 80,960,573(-) G/C genic_downstream_transcript_variant, intron_variant
rs1000167741 -- 80,980,756(-) T/C intron_variant

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

(1) MalaCards diseases for MESD Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
autosomal dominant nocturnal frontal lobe epilepsy 2
  • enfl2
- elite association - COSMIC cancer census association via MalaCards
Search MESD in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MESD

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

No data available for UniProtKB/Swiss-Prot and 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 58
  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 58
  3. 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 58
  4. 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 22 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for MESD Gene

Sources for MESD Gene

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