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    MESD mesoderm development LRP chaperone [ Homo sapiens (human) ]

    Gene ID: 23184, updated on 9-Dec-2024

    Summary

    Official Symbol
    MESDprovided by HGNC
    Official Full Name
    mesoderm development LRP chaperoneprovided by HGNC
    Primary source
    HGNC:HGNC:13520
    See related
    Ensembl:ENSG00000117899 MIM:607783; AllianceGenome:HGNC:13520
    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; OI20; MESDC2
    Summary
    Predicted to enable low-density lipoprotein particle receptor binding activity. Involved in ossification and protein folding. Located in endoplasmic reticulum. Implicated in osteogenesis imperfecta type 20. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 16.9), placenta (RPKM 10.6) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See MESD in Genome Data Viewer
    Location:
    15q25.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (80946289..80989819, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (78809933..78853463, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (81238630..81282160, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene cell migration inducing hyaluronidase 1 Neighboring gene uncharacterized LOC124903539 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:81123292-81123982 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:81142698-81143198 Neighboring gene microRNA 549a Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:81203807-81204322 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:81221049-81222248 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:81244997-81245969 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:81245970-81246941 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:81246942-81247914 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:81258943-81259458 Neighboring gene Sharpr-MPRA regulatory region 7638 Neighboring gene Sharpr-MPRA regulatory region 7655 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:81276040-81276574 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9945 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:81281241-81281855 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:81281856-81282469 Neighboring gene NANOG hESC enhancer GRCh37_chr15:81289897-81290398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6739 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6741 Neighboring gene uncharacterized LOC128071545 Neighboring gene microRNA 4514 Neighboring gene talin rod domain containing 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 is identified to have a physical interaction with mesoderm development candidate 2 (MESDC2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0081

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables low-density lipoprotein particle receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mesoderm development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in ossification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in phagocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of skeletal muscle acetylcholine-gated channel clustering ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein folding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein folding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein localization to cell surface ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    LRP chaperone MESD
    Names
    LDLR chaperone MESD
    mesoderm development LRP chaperone MESD
    mesoderm development candidate 2
    mesoderm development protein
    renal carcinoma antigen NY-REN-61

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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)

    1. NM_015154.3NP_055969.1  LRP chaperone MESD precursor

      See identical proteins and their annotated locations for NP_055969.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the protein.
      Source sequence(s)
      BE004295, D42039, DA938708, DB365572
      Consensus CDS
      CCDS32308.1
      UniProtKB/Swiss-Prot
      B4DW84, D3DW96, Q14696, Q969U1
      Related
      ENSP00000261758.4, ENST00000261758.6
      Conserved Domains (1) summary
      pfam10185
      Location:52201
      Mesd; Chaperone for wingless signalling and trafficking of LDL receptor

    RNA

    1. NR_126327.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC027808, BC009210
    2. NR_126328.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two exons and contains two alternate 3' exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC027808, AK301416, BC009210, DA938708

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      80946289..80989819 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      78809933..78853463 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)