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

Gene ID: 23184, updated on 23-Nov-2023

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, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 16.9), placenta (RPKM 10.6) and 25 other tissues See more
Orthologs
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Genomic context

See MESD in Genome Data Viewer
Location:
15q25.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (80946289..80989819, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (78809933..78853463, complement)
105.20220307 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 umcharacterized 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 molecular_function ND
No biological Data available
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)

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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_2023_10

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)