MESD (mesoderm development LRP chaperone)

Gene

• Entrez ID: 23184
• Gene name: Mesoderm development LRP chaperone
• Gene symbol: MESD
• Synonyms (NCBI Gene): BOCA, MESDC2, OI20
• Disease Acronyms (UniProt): OI20
• Chromosome: 15
• Chromosome location: 15q25.1

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001503	Process	Ossification	IMP	31564437
GO:0003674	Function	Molecular_function	ND
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005783	Component	Endoplasmic reticulum	IMP	31564437
GO:0005886	Component	Plasma membrane	IEA
GO:0006457	Process	Protein folding	IMP	31564437
GO:0006457	Process	Protein folding	ISS
GO:0006909	Process	Phagocytosis	ISS
GO:0007498	Process	Mesoderm development	NAS	11247670
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0034394	Process	Protein localization to cell surface	ISS
GO:0042802	Function	Identical protein binding	IEA
GO:0050750	Function	Low-density lipoprotein particle receptor binding	IBA	21873635
GO:1904395	Process	Positive regulation of skeletal muscle acetylcholine-gated channel clustering	ISS

Other IDs

• MIM: 607783
• HGNC: 13520
• e!Ensembl: ENSG00000117899

Protein

• UniProt ID: 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

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Osteogenesis imperfecta	Osteogenesis Imperfecta	rs72659351, rs72659354, rs72659348, rs72659355, rs137853952, rs118203996, rs137853890, rs72659360, rs72659362, rs72659359, rs72659361, rs72659357, rs121918002, rs121918007, rs121918009, rs121918011, rs121918019, rs137853869, rs121434559, rs72659319, rs72659345, rs121912903, rs121912905, rs121912907, rs869254878, rs72658200, rs74315103, rs121912911, rs72658176, rs72656402, rs121912912, rs267606742, rs72659338, rs72645331, rs66721653, rs67368147, rs72653136, rs72653169, rs66523073, rs72656352, rs72645365, rs72667022, rs72645357, rs72656330, rs66527965, rs72645323, rs72656331, rs72667037, rs72654802, rs67682641, rs72653178, rs72653131, rs72656353, rs67828806, rs72656343, rs1906960583, rs72656314, rs67364703, rs72645347, rs72651618, rs66490707, rs72653170, rs72645320, rs137853892, rs1567856056, rs387906960, rs1555616552, rs137853865, rs137853866, rs193302872, rs193302871, rs193302873, rs137853893, rs193922137, rs72648320, rs193922138, rs193922139, rs193922140, rs193922141, rs193922143, rs193922144, rs193922145, rs193922147, rs193922148, rs193922149, rs193922151, rs193922152, rs193922154, rs72653173, rs193922155, rs193922157, rs72667023, rs193922158, rs72645328, rs193922162, rs72658154, rs193922166, rs193922167, rs193922173, rs72656387, rs193922175, rs587776916, rs398122891, rs318240762, rs372896892, rs398122834, rs749709000, rs397509383, rs397514674, rs398122518, rs398122519, rs398122520, rs387907325, rs387907333, rs387907334, rs387907354, rs387907355, rs387907356, rs387907357, rs727505392, rs786201032, rs786205217, rs786205218, rs786205219, rs786205220, rs797044559, rs794726873, rs72645353, rs869320752, rs137853943, rs797045033, rs863225043, rs869025223, rs869312908, rs878853274, rs72659347, rs72656370, rs886039693, rs67507747, rs762428889, rs72645318, rs886039880, rs369651701, rs886041866, rs886042260, rs886042286, rs886042603, rs886042897, rs72654794, rs72651642, rs140468248, rs137853944, rs1057517662, rs1057517663, rs74315111, rs72648337, rs1057518930, rs1057521085, rs1064794058, rs72658185, rs1555572249, rs67771061, rs1114167416, rs1114167417, rs72656386, rs1114167418, rs906553840, rs67729041, rs67865220, rs1114167412, rs67707918, rs68132885, rs72658119, rs72658143, rs72658150, rs72659310, rs67609234, rs1114167414, rs1114167415, rs72659325, rs67768540, rs1114167406, rs1114167405, rs1114167403, rs34940368, rs1114167402, rs72656340, rs1114167401, rs1114167400, rs72656338, rs1114167399, rs67815019, rs1114167398, rs67394386, rs1114167382, rs1114167396, rs1114167395, rs1114167381, rs1114167394, rs67445413, rs1114167380, rs1114167379, rs1114167392, rs67693970, rs1114167391, rs1114167378, rs72651661, rs1114167390, rs72651645, rs1114167389, rs1114167388, rs66555264, rs72651614, rs1114167387, rs1114167377, rs1114167375, rs1114167374, rs1114167385, rs72648326, rs72648322, rs72645369, rs1555574154, rs72645366, rs786205507, rs1114167411, rs72645356, rs72645337, rs72645334, rs72645321, rs1114167410, rs72667036, rs8179178, rs1114167408, rs1114167407, rs72667016, rs72667012, rs1114167384, rs1114167409, rs1085307634, rs1131692167, rs765659555, rs1131692326, rs1131692320, rs1135401953, rs137853883, rs1555573313, rs72667014, rs1555573621, rs1555572125, rs1260429820, rs67879854, rs1555574143, rs1328384458, rs72648343, rs1555574516, rs1555574641, rs972668240, rs72656392, rs66612022, rs66619856, rs1554395970, rs1555571755, rs1555571849, rs1555572075, rs1555572239, rs1555572458, rs1555573004, rs67543897, rs72648352, rs1555574113, rs1555574493, rs1555574497, rs1555574638, rs1555574802, rs1555571529, rs1555571647, rs1555571766, rs1555572401, rs1555572456, rs72651635, rs1555573484, rs1298621011, rs1555575086, rs1555572013, rs1555572120, rs1555572121, rs1555573039, rs1555574071, rs66664580, rs72667031, rs1555571874, rs72653151, rs72653147, rs1213427451, rs72651620, rs865999256, rs1555574144, rs1555574151, rs72645341, rs1555574496, rs1555574553, rs1555571916, rs1555178899, rs1555575370, rs1555572315, rs72645361, rs113994016, rs781272386, rs1554397369, rs1555572406, rs72651634, rs139593707, rs1555572316, rs72651640, rs1554396283, rs763159520, rs72658127, rs1553143741, rs1553143142, rs1554200383, rs1187611948, rs1554200371, rs1555572254, rs867628651, rs72653155, rs138570309, rs1410254723, rs1555573897, rs1228746935, rs72645368, rs1555574871, rs1555572640, rs1555573288, rs1555573629, rs1555575015, rs1555575889, rs1555572759, rs1555574158, rs1555574177, rs72667029, rs1555571942, rs1555574319, rs753683126, rs72651658, rs1554395470, rs1555572161, rs371243939, rs1555986267, rs1555986287, rs1555222973, rs779809838, rs1565789682, rs1557569037, rs1013320485, rs762525651, rs72656375, rs1567752926, rs1567752998, rs1567753046, rs1567753329, rs72653140, rs1567756567, rs72651644, rs1567760604, rs1567761950, rs1567763007, rs111594467, rs1567757112, rs1567759402, rs1567760123, rs67163049, rs1567756357, rs1567760736, rs1567761649, rs1567763447, rs1567763451, rs1567764387, rs1567764832, rs1567766329, rs72656326, rs1567753699, rs1567754277, rs72653168, rs72645370, rs1567762257, rs1567766338, rs72658193, rs72648357, rs1562906570, rs72659305, rs1567751388, rs1567753448, rs72651647, rs1567761800, rs1567762262, rs72648346, rs1565244847, rs1567757138, rs72656394, rs1562907287, rs1567754589, rs1598288342, rs1567855132, rs72659356, rs773269078, rs1570479611, rs762780039, rs1330779100, rs1598289920, rs72653133, rs1562906013, rs753338851, rs1570454914, rs1229143002, rs1570472113, rs137853939, rs768626850, rs1584324507, rs141011435, rs1598285120, rs72656324, rs1598288070, rs1598288593, rs1598289365, rs1598291438, rs72648330, rs1598296825, rs72648319, rs72648313, rs72645332, rs1598299070, rs1598300304, rs1473458290, rs1598285125, rs72653171, rs72653150, rs1181095991, rs1598295482, rs1598301459, rs72651667, rs1598298449, rs1597352358, rs1597355244, rs1597357740, rs1597357758, rs1597902342, rs1374482728, rs1597905563, rs1570452407, rs1570453963, rs1581634382, rs1597906442, rs1597908085, rs1597907877, rs1584316181, rs1584318953, rs72656389, rs1584319418, rs1584322737, rs1584330959, rs2586486, rs1598286543, rs72654797, rs1598288634, rs1598288656, rs1598290382, rs1598293920, rs1598295794, rs150572711, rs1598299275, rs1598300054, rs111953130, rs868166455, rs745891632, rs1021282486, rs780491808, rs1584320553, rs1598298699, rs72648321, rs1598288648, rs1598288967, rs72645352, rs1598298292, rs72645315, rs762979302, rs1598286050, rs1598301619, rs1584330396, rs72653156, rs1598295066, rs137853948, rs1598288002, rs1598289247, rs1652311421, rs1701306294, rs1906421838, rs72656351, rs72656348, rs1906537608, rs72656337, rs72656320, rs1906843530, rs1906847588, rs1906874191, rs1906878217, rs72651641, rs1907212702, rs1907330109, rs1907377731, rs1907418203, rs1907457376, rs72648333, rs1907617224, rs72667030, rs1907889665, rs1907921633, rs1908087291, rs1652352034, rs72648370, rs1555575835, rs1908083033, rs1907669327, rs112274185, rs72656327, rs1906695650, rs72645338, rs1907787005, rs1054264002, rs1791878922, rs1791894410, rs1791907178, rs369314029, rs1908050941, rs72653141, rs1907103040, rs1907351704, rs1907477506, rs1907512918, rs112042777, rs1907566530, rs1907770102, rs1791951769, rs1792108270, rs1387151592, rs72656385	31564437

Unknown
Disease term	Disease name	Evidence	References	Source
Osteogenesis Imperfecta	osteogenesis imperfecta type 2, osteogenesis imperfecta, type 20			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Bone Diseases	Associate	33596325
Colorectal Neoplasms	Associate	30876480
Osteogenesis Imperfecta	Associate	33596325, 36526215
Osteopetrosis lethal	Associate	33596325
Triple Negative Breast Neoplasms	Associate	28247948