MESD
LRP chaperone MESD
Also known as: BOCA, KIAA0081, MESD_HUMAN, MESDC2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q14696
- Gene
- MESD
- Ensembl
- ENSG00000117899
- Chromosome
- 15
- Canonical length
- 234 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nuclear bodies,Endoplasmic reticulum,Cytosol
- Secretome location
- Intracellular and membrane
OverviewNCBI Gene
Predicted to enable low-density lipoprotein particle receptor binding activity and protein folding chaperone. Involved in ossification and protein folding. Located in endoplasmic reticulum. Implicated in osteogenesis imperfecta type 20. [provided by Alliance of Genome Resources, Apr 2025]
Canonical amino-acid sequenceUniProt
234 residues, UniProt reviewed canonical sequence.
>Q14696|MESD
1 MAASRWARKA VVLLCASDLL LLLLLLPPPG SCAAEGSPGT PDESTPPPRK KKKDIRDYND
61 ADMARLLEQW EKDDDIEEGD LPEHKRPSAP VDFSKIDPSK PESILKMTKK GKTLMMFVTV
121 SGSPTEKETE EITSLWQGSL FNANYDVQRF IVGSDRAIFM LRDGSYAWEI KDFLVGQDRC
181 ADVTLEGQVY PGKGGGSKEK NKTKQDKGKK KKEGDLKSRS SKEENRAGNK REDLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MESD can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.5
- Highest tissue expression
- 40 nTPM
Expression across tissuesHPA
Tissue
- epididymis: 40 nTPM
- thyroid gland: 32 nTPM
- choroid plexus: 27 nTPM
- placenta: 25 nTPM
- liver: 20 nTPM
- spinal cord: 19 nTPM
Single-cell type
- syncytiotrophoblasts: 530 nCPM
- cytotrophoblasts: 411 nCPM
- epididymal principal cells: 384 nCPM
- migrating cytotrophoblasts: 345 nCPM
- extravillous trophoblasts: 337 nCPM
- esophageal apical cells: 228 nCPM
Immune cell
- plasmacytoid DC: 45 nTPM
- NK-cell: 45 nTPM
- T-reg: 43 nTPM
- MAIT T-cell: 42 nTPM
- basophil: 40 nTPM
- memory CD4 T-cell: 37 nTPM
Brain region
- choroid plexus: 19 nTPM
- white matter: 19 nTPM
- hypothalamus: 18 nTPM
- medulla oblongata: 17 nTPM
- cerebellum: 17 nTPM
- basal ganglia: 17 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about MESD.
Disease | AllUniProt
Conditions MESD is implicated in, by any mechanism.
- Osteogenesis imperfecta 20 (OI20) MIM:618644
Disease | GeneticClinVar
8 pathogenic / likely-pathogenic of 110 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Osteogenesis imperfecta, type 20
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.64
- gnomAD pLI
- 0.63
- DepMap mean gene effect
- -0.18
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- mesoderm development
- ossification
- phagocytosis
- positive regulation of skeletal muscle acetylcholine-gated channel clustering
- positive regulation of Wnt signaling pathway
- protein folding
- protein localization to cell surface
- protein localization to plasma membrane
- Wnt signaling pathway
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- LRP chaperone MESD
- Chaperone for wingless signalling and trafficking of LDL receptor
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MESD in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MESD as an antibody target. Whether an autoantibody or antibody against MESD could matter depends on whether native MESD is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MESD is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label MESD as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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