Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	23184
Gene name	Mesoderm development LRP chaperone
Gene symbol	MESD
Synonyms (NCBI Gene)	BOCAMESDC2OI20
Chromosome	15
Chromosome location	15q25.1

SNP ID	Visualize variation	Clinical significance	Consequence
rs745891632	TT>-,T,TTT	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, intron variant
rs780491808	GTTTT>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1021282486	G>A,C	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, intron variant, missense variant

60 Show/Hide all (60)

miRTarBase ID	miRNA	Experiments	Reference
MIRT664770	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT664769	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT664768	hsa-miR-4532	HITS-CLIP	23824327
MIRT664767	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT664766	hsa-miR-1281	HITS-CLIP	23824327
MIRT664765	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT664764	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT664763	hsa-miR-1976	HITS-CLIP	23824327
MIRT664762	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT664761	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT664760	hsa-miR-4284	HITS-CLIP	23824327
MIRT664759	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT664758	hsa-miR-4279	HITS-CLIP	23824327
MIRT664757	hsa-miR-8057	HITS-CLIP	23824327
MIRT664756	hsa-miR-498	HITS-CLIP	23824327
MIRT552086	hsa-miR-8485	PAR-CLIP	20371350
MIRT552085	hsa-miR-329-3p	PAR-CLIP	20371350
MIRT552084	hsa-miR-362-3p	PAR-CLIP	20371350
MIRT552083	hsa-miR-603	PAR-CLIP	20371350
MIRT552082	hsa-miR-3167	PAR-CLIP	20371350
MIRT552081	hsa-miR-876-5p	PAR-CLIP	20371350
MIRT552080	hsa-miR-1290	PAR-CLIP	20371350
MIRT552079	hsa-miR-3941	PAR-CLIP	20371350
MIRT552078	hsa-miR-4672	PAR-CLIP	20371350
MIRT552077	hsa-miR-466	PAR-CLIP	20371350
MIRT552076	hsa-miR-153-3p	PAR-CLIP	20371350
MIRT552075	hsa-miR-3074-5p	PAR-CLIP	20371350
MIRT552074	hsa-miR-7152-5p	PAR-CLIP	20371350
MIRT552073	hsa-miR-5004-3p	PAR-CLIP	20371350
MIRT552072	hsa-miR-7850-5p	PAR-CLIP	20371350
MIRT552086	hsa-miR-8485	PAR-CLIP	20371350
MIRT552085	hsa-miR-329-3p	PAR-CLIP	20371350
MIRT552084	hsa-miR-362-3p	PAR-CLIP	20371350
MIRT552083	hsa-miR-603	PAR-CLIP	20371350
MIRT552082	hsa-miR-3167	PAR-CLIP	20371350
MIRT552081	hsa-miR-876-5p	PAR-CLIP	20371350
MIRT552080	hsa-miR-1290	PAR-CLIP	20371350
MIRT552079	hsa-miR-3941	PAR-CLIP	20371350
MIRT552078	hsa-miR-4672	PAR-CLIP	20371350
MIRT552077	hsa-miR-466	PAR-CLIP	20371350
MIRT552076	hsa-miR-153-3p	PAR-CLIP	20371350
MIRT552075	hsa-miR-3074-5p	PAR-CLIP	20371350
MIRT552074	hsa-miR-7152-5p	PAR-CLIP	20371350
MIRT552073	hsa-miR-5004-3p	PAR-CLIP	20371350
MIRT552072	hsa-miR-7850-5p	PAR-CLIP	20371350
MIRT552086	hsa-miR-8485	PAR-CLIP	21572407
MIRT552085	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT552084	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT552083	hsa-miR-603	PAR-CLIP	21572407
MIRT552082	hsa-miR-3167	PAR-CLIP	21572407
MIRT552081	hsa-miR-876-5p	PAR-CLIP	21572407
MIRT552080	hsa-miR-1290	PAR-CLIP	21572407
MIRT552079	hsa-miR-3941	PAR-CLIP	21572407
MIRT552078	hsa-miR-4672	PAR-CLIP	21572407
MIRT552077	hsa-miR-466	PAR-CLIP	21572407
MIRT552076	hsa-miR-153-3p	PAR-CLIP	21572407
MIRT552075	hsa-miR-3074-5p	PAR-CLIP	21572407
MIRT552074	hsa-miR-7152-5p	PAR-CLIP	21572407
MIRT552073	hsa-miR-5004-3p	PAR-CLIP	21572407
MIRT552072	hsa-miR-7850-5p	PAR-CLIP	21572407

24 Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001503	Process	Ossification	IMP	31564437
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	IMP	31564437
GO:0005886	Component	Plasma membrane	IEA
GO:0006457	Process	Protein folding	IEA
GO:0006457	Process	Protein folding	IEA
GO:0006457	Process	Protein folding	IMP	31564437
GO:0006457	Process	Protein folding	ISS
GO:0006909	Process	Phagocytosis	IEA
GO:0006909	Process	Phagocytosis	ISS
GO:0007498	Process	Mesoderm development	NAS	11247670
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IEA
GO:0034394	Process	Protein localization to cell surface	IEA
GO:0034394	Process	Protein localization to cell surface	ISS
GO:0042802	Function	Identical protein binding	IEA
GO:0044183	Function	Protein folding chaperone	IEA
GO:0050750	Function	Low-density lipoprotein particle receptor binding	IBA
GO:0050750	Function	Low-density lipoprotein particle receptor binding	IEA
GO:0072659	Process	Protein localization to plasma membrane	IEA
GO:1904395	Process	Positive regulation of skeletal muscle acetylcholine-gated channel clustering	IEA
GO:1904395	Process	Positive regulation of skeletal muscle acetylcholine-gated channel clustering	ISS

MIM	HGNC	e!Ensembl
607783	13520	ENSG00000117899

Q14696

Protein name

LRP chaperone MESD (LDLR chaperone MESD) (Mesoderm development LRP chaperone MESD) (Mesoderm development candidate 2) (Mesoderm development protein) (Renal carcinoma antigen NY-REN-61)

Protein function

Chaperone specifically assisting the folding of beta-propeller/EGF modules within the family of low-density lipoprotein receptors (LDLRs) (PubMed:15014448). Acts as a modulator of the Wnt pathway through chaperoning the coreceptors of the canoni

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10185	Mesd	52 → 212	Chaperone for wingless signalling and trafficking of LDL receptor	Family

Sequence

MAASRWARKAVVLLCASDLLLLLLLLPPPGSCAAEGSPGTPDESTPPPRKKKKDIRDYND
ADMARLLEQWEKDDDIEEGDLPEHKRPSAPVDFSKIDPSKPESILKMTKKGKTLMMFVTV
SGSPTEKETEEITSLWQGSLFNANYDVQRFIVGSDRAIFMLRDGSYAWEIKDFLVGQDRC
ADVTLEGQVYPGKGGGSKEKNKTKQDKGKKKKEGDLKSRSSKEENRAGNKREDL

Sequence length

234

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Osteogenesis imperfecta, type 20	Pathogenic; Likely pathogenic	rs759048290, rs745891632, rs1021282486, rs780491808	RCV003152498 RCV000853610 RCV000853611 RCV000853612 RCV000853613	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (8)
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESD-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA TYPE 2	—	Disgenet, Orphanet Disgenet, Orphanet	31564437, 33596325, 33596325, 31564437	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, DOMINANT PERINATAL LETHAL	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE XX	—	Disgenet, HPO Disgenet, HPO	31564437	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (10)
Bone Diseases	Bone disease	Pubtator	33596325	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30876480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30876480	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30876480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	31564437		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	GENOMICS_ENGLAND_DG	31564437		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	33596325, 36526215	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	15917269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28247948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	28247948	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
P3H1	3	["Bone fragility with contractures, arterial rupture, and deafness","Osteogenesis imperfecta","Osteoporosis-pseudoglioma syndrome"]	[]	6	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","Disgenet (Osteogenesis imperfecta)","ClinVar (Osteogenesis imperfecta)","Orphanet (Osteogenesis imperfecta)","HPO (Osteogenesis imperfecta)","CTD (Osteoporosis-pseudoglioma syndrome)"]
PPIB	3	["Bone fragility with contractures, arterial rupture, and deafness","Osteogenesis imperfecta","Osteoporosis-pseudoglioma syndrome"]	[]	6	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","Disgenet (Osteogenesis imperfecta)","ClinVar (Osteogenesis imperfecta)","Orphanet (Osteogenesis imperfecta)","HPO (Osteogenesis imperfecta)","CTD (Osteoporosis-pseudoglioma syndrome)"]
TMEM38B	3	["Bone fragility with contractures, arterial rupture, and deafness","Osteogenesis imperfecta","Osteoporosis-pseudoglioma syndrome"]	[]	6	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","Disgenet (Osteogenesis imperfecta)","ClinVar (Osteogenesis imperfecta)","Orphanet (Osteogenesis imperfecta)","HPO (Osteogenesis imperfecta)","CTD (Osteoporosis-pseudoglioma syndrome)"]
IFITM5	3	["Bone fragility with contractures, arterial rupture, and deafness","Osteogenesis imperfecta","Osteoporosis-pseudoglioma syndrome"]	[]	6	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","Disgenet (Osteogenesis imperfecta)","ClinVar (Osteogenesis imperfecta)","Orphanet (Osteogenesis imperfecta)","HPO (Osteogenesis imperfecta)","CTD (Osteoporosis-pseudoglioma syndrome)"]
CCDC134	3	["Bone fragility with contractures, arterial rupture, and deafness","Osteogenesis imperfecta","Osteoporosis-pseudoglioma syndrome"]	[]	5	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","Disgenet (Osteogenesis imperfecta)","ClinVar (Osteogenesis imperfecta)","HPO (Osteogenesis imperfecta)","CTD (Osteoporosis-pseudoglioma syndrome)"]

MESD (mesoderm development LRP chaperone)

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