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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
  • Renal Carcinoma Antigen NY-REN-61 3 4
  • Mesoderm Development Protein 3 4
  • MESDC2 3 4
  • LDLR Chaperone MESD 3
  • KIAA0081 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.

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

Regulatory Elements for MESD Gene

Enhancers for MESD Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15H081029 1 FANTOM5 Ensembl 22.1 -40.1 -40123 1 JUN BACH1 MAX ZNF316 FOS NFE2 TRIM24 MAFK NFE2L2 SMARCE1 TLNRD1 MESD STARD5 GC15M081029 GC15P081022
GH15H081022 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12 -34.1 -34123 2 HDGF PKNOX1 TBL1XR1 BMI1 BATF ATF7 ETV6 RUNX3 CREM IKZF2 TLNRD1 MESD STARD5 GC15P081022 GC15M081029
GH15H080988 1.4 ENCODE dbSUPER 12.5 -0.2 -226 4 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF207 MESD TLNRD1 ENSG00000260619
GH15H080984 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.3 +4.7 4733 1 ZNF687 PRDM6 NCOR1 IKZF1 EED CREB1 ZSCAN29 ZNF600 IKZF2 PRDM1 TLNRD1 MESD STARD5 GC15M080956
GH15H080999 1.3 ENCODE dbSUPER 12.7 -11.5 -11545 4 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ZNF766 ZNF143 ZNF207 MESD TLNRD1 GC15M081000 PIR45812
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MESD on UCSC Golden Path with GeneCards custom track

Promoters for MESD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000080040 378 1801 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF143

Genomic Location for MESD Gene

Chromosome:
15
Start:
80,946,289 bp from pter
End:
80,989,878 bp from pter
Size:
43,590 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:
    LDLR 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 (By similarity). Interacts with LRP5; the interaction prevents LRP5 from forming aggregates and chaperones LRP6 to the plasma membrane. Interacts with LRP6; the interaction prevents LRP6 from forming aggregates and chaperones LRP6 to the plasma membrane.
    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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MESD (MESDC2)
  • Abcam antibodies for MESD

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

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.

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: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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MESD
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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.

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 IEA,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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MESD
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

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 33 34
  • 99.86 (n)
dog
(Canis familiaris)
Mammalia MESDC2 33 34
  • 86.3 (n)
cow
(Bos Taurus)
Mammalia MESDC2 33 34
  • 84.91 (n)
mouse
(Mus musculus)
Mammalia Mesdc2 33 34
  • 82.59 (n)
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 33 34
  • 71.47 (n)
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 33 34
  • 75.41 (n)
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 33 34
  • 57.24 (n)
worm
(Caenorhabditis elegans)
Secernentea bmy-1 33 34
  • 49.31 (n)
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)

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 Sequence Context AA Info Type
rs1000028809 -- 80,986,603(+) TACCC(C/T)TAGTC intron-variant
rs1000038399 -- 80,979,851(+) TAGAG(G/T)GTCCA intron-variant
rs1000089915 -- 80,953,229(+) AGGGT(C/G)GGGGG intron-variant
rs1000164765 -- 80,960,573(+) TTCTA(C/G)AGGGA intron-variant
rs1000167741 -- 80,980,756(+) CATAG(C/T)GAGAC 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)

Relevant External Links for MESD Gene

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: 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

Relevant External Links for MESD

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MESD
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  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 60
  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 60
  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 60
  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 60

Products for MESD Gene

Sources for MESD Gene

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