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Aliases for MESDC2 Gene

Aliases for MESDC2 Gene

  • Mesoderm Development Candidate 2 2 3 4 5
  • Renal Carcinoma Antigen NY-REN-61 3 4
  • Mesoderm Development Protein 3 4
  • MESD 3 4
  • KIAA0081 4
  • BOCA 3

External Ids for MESDC2 Gene

Previous GeneCards Identifiers for MESDC2 Gene

  • GC15M077196
  • GC15M074396
  • GC15M078815
  • GC15M078955
  • GC15M078983
  • GC15M079026
  • GC15M081244
  • GC15M058026

Summaries for MESDC2 Gene

GeneCards Summary for MESDC2 Gene

MESDC2 (Mesoderm Development Candidate 2) is a Protein Coding gene. Diseases associated with MESDC2 include albinism, oculocutaneous, type ii and teratoma. Among its related pathways are Non-Canonical Wnt Pathway. GO annotations related to this gene include low-density lipoprotein particle receptor binding.

UniProtKB/Swiss-Prot for MESDC2 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 MESDC2 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MESDC2 Gene

Genomics for MESDC2 Gene

Regulatory Elements for MESDC2 Gene

Promoters for MESDC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MESDC2 on UCSC Golden Path with GeneCards custom track

Genomic Location for MESDC2 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 MESDC2 Gene

Genes around MESDC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MESDC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MESDC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MESDC2 Gene

Proteins for MESDC2 Gene

  • Protein details for MESDC2 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 MESDC2 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 MESDC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MESDC2 Gene

Proteomics data for MESDC2 Gene at MOPED

Post-translational modifications for MESDC2 Gene

  • Glycosylation at Ser 88 and Asn 201
  • Modification sites at PhosphoSitePlus

Other Protein References for MESDC2 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MESDC2 (MESDC2)

No data available for DME Specific Peptides for MESDC2 Gene

Domains & Families for MESDC2 Gene

Protein Domains for MESDC2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MESDC2 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 MESDC2: view

No data available for Gene Families for MESDC2 Gene

Function for MESDC2 Gene

Molecular function for MESDC2 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.
genes like me logo Genes that share phenotypes with MESDC2: view

Animal Models for MESDC2 Gene

MGI Knock Outs for MESDC2:

Animal Model Products

  • Taconic Biosciences Mouse Models for MESDC2

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MESDC2 Gene

Localization for MESDC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MESDC2 Gene

Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MESDC2 Gene COMPARTMENTS Subcellular localization image for MESDC2 gene
Compartment Confidence
endoplasmic reticulum 4
extracellular 3
cytosol 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for MESDC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with MESDC2: view

Pathways & Interactions for MESDC2 Gene

SuperPathways for MESDC2 Gene

genes like me logo Genes that share pathways with MESDC2: view

Pathways by source for MESDC2 Gene

2 Sino Biological pathways for MESDC2 Gene

Gene Ontology (GO) - Biological Process for MESDC2 Gene

None

No data available for SIGNOR curated interactions for MESDC2 Gene

Drugs & Compounds for MESDC2 Gene

No Compound Related Data Available

Transcripts for MESDC2 Gene

Unigene Clusters for MESDC2 Gene

Mesoderm development candidate 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MESDC2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6
SP1:
SP2:
SP3: -

Relevant External Links for MESDC2 Gene

GeneLoc Exon Structure for
MESDC2
ECgene alternative splicing isoforms for
MESDC2

Expression for MESDC2 Gene

mRNA expression in normal human tissues for MESDC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MESDC2 Gene



SOURCE GeneReport for Unigene cluster for MESDC2 Gene Hs.578450

genes like me logo Genes that share expression patterns with MESDC2: view

Protein tissue co-expression partners for MESDC2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MESDC2 Gene

Orthologs for MESDC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MESDC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MESDC2 36
  • 100 (a)
OneToOne
MESDC2 35
  • 99.86 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia MESDC2 35
  • 84.91 (n)
  • 87.5 (a)
MESDC2 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MESDC2 36
  • 50 (a)
OneToOne
MESDC2 35
  • 86.3 (n)
  • 92.02 (a)
mouse
(Mus musculus)
Mammalia Mesdc2 36
  • 87 (a)
OneToOne
Mesdc2 16
Mesdc2 35
  • 82.59 (n)
  • 84.37 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 77 (a)
OneToMany
-- 36
  • 60 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia MESDC2 36
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mesdc2 35
  • 82.14 (n)
  • 82.14 (a)
chicken
(Gallus gallus)
Aves MESDC2 35
  • 71.47 (n)
  • 75.48 (a)
MESDC2 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MESDC2 36
  • 74 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.25732 35
tropical clawed frog
(Silurana tropicalis)
Amphibia mesdc2 35
  • 71.15 (n)
  • 77.42 (a)
Str.15051 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.948 35
zebrafish
(Danio rerio)
Actinopterygii mesdc2 36
  • 67 (a)
OneToOne
mesdc2 35
  • 75.41 (n)
  • 83.61 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005081 35
  • 58.33 (n)
  • 57.43 (a)
fruit fly
(Drosophila melanogaster)
Insecta boca 36
  • 44 (a)
OneToOne
boca 35
  • 57.24 (n)
  • 50 (a)
worm
(Caenorhabditis elegans)
Secernentea bmy-1 35
  • 49.31 (n)
  • 43.75 (a)
bmy-1 36
  • 34 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
OneToOne
Species with no ortholog for MESDC2:
  • 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 MESDC2 Gene

ENSEMBL:
Gene Tree for MESDC2 (if available)
TreeFam:
Gene Tree for MESDC2 (if available)

Paralogs for MESDC2 Gene

Pseudogenes.org Pseudogenes for MESDC2 Gene

genes like me logo Genes that share paralogs with MESDC2: view

No data available for Paralogs for MESDC2 Gene

Variants for MESDC2 Gene

Sequence variations from dbSNP and Humsavar for MESDC2 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1012540 -- 80,953,751(-) CCTCC(A/T)GTCTG intron-variant
rs1012541 -- 80,953,687(-) GCCTT(C/T)CCAGC intron-variant
rs3950936 -- 80,965,450(-) caccc(A/G)gtaat intron-variant
rs4395036 -- 80,979,123(+) TCATC(C/T)GGTGT intron-variant, nc-transcript-variant, utr-variant-3-prime
rs3743041 -- 80,977,899(+) GGGAC(C/T)GCAGG intron-variant, utr-variant-3-prime

Variation tolerance for MESDC2 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 MESDC2 Gene

HapMap Linkage Disequilibrium report
MESDC2
Human Gene Mutation Database (HGMD)
MESDC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MESDC2 Gene

Disorders for MESDC2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MESDC2 Gene - From: OMIM, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
albinism, oculocutaneous, type ii
  • albinism, brown oculocutaneous
teratoma
  • teratomas
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for MESDC2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MESDC2
genes like me logo Genes that share disorders with MESDC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MESDC2 Gene

Publications for MESDC2 Gene

  1. 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. … Nomura N. (DNA Res. 1995) 2 3 4 67
  2. 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 I.M. … van Kessel A.G. (Hum. Mol. Genet. 2005) 3 23
  3. Identification of mesoderm development (mesd) candidate genes by comparative mapping and genome sequence analysis. (PMID: 11247670) Wines M.E. … Holdener B.C. (Genomics 2001) 2 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for MESDC2 Gene

Sources for MESDC2 Gene

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