MESD

Summary

MESD (mesoderm development LRP chaperone, HGNC:13520) is a protein-coding gene on chromosome 15q25.1, encoding LRP chaperone MESD (Q14696). Chaperone specifically assisting the folding of beta-propeller/EGF modules within the family of low-density lipoprotein receptors (LDLRs).

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.

Source: NCBI Gene 23184 — RefSeq curated summary.

At a glance

• Gene–disease (curated): osteogenesis imperfecta, type 20 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 3
• Clinical variants (ClinVar): 73 total — 5 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 31
• MANE Select transcript: NM_015154

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13520
Approved symbol	MESD
Name	mesoderm development LRP chaperone
Location	15q25.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0081, BOCA
Ensembl gene	ENSG00000117899
Ensembl biotype	protein_coding
OMIM	607783
Entrez	23184

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 5 protein_coding, 3 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000261758, ENST00000422879, ENST00000559537, ENST00000560189, ENST00000560244, ENST00000561312, ENST00000619987, ENST00000866863, ENST00000866864, ENST00000913247

RefSeq mRNA: 1 — MANE Select: NM_015154 NM_015154

CCDS: CCDS32308

Canonical transcript exons

ENST00000261758 — 3 exons

Exon	Start	End
ENSE00000924494	80981950	80982182
ENSE00001165194	80975752	80979477
ENSE00002560762	80989579	80989819

Expression profiles

Bgee: expression breadth ubiquitous, 260 present calls, max score 99.16.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 63.8152 / max 437.3849, expressed in 1828 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
151220	63.8152	1828

Top tissues by expression

260 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
epithelial cell of pancreas	CL:0000083	99.16	gold quality
pancreatic ductal cell	CL:0002079	98.82	gold quality
kidney epithelium	UBERON:0004819	98.07	gold quality
corpus epididymis	UBERON:0004359	97.92	gold quality
ileal mucosa	UBERON:0000331	97.50	gold quality
nasal cavity epithelium	UBERON:0005384	97.32	gold quality
tibia	UBERON:0000979	97.31	gold quality
palpebral conjunctiva	UBERON:0001812	97.22	gold quality
parotid gland	UBERON:0001831	96.99	gold quality
medial globus pallidus	UBERON:0002477	96.96	gold quality
esophagus squamous epithelium	UBERON:0006920	96.93	gold quality
germinal epithelium of ovary	UBERON:0001304	96.87	gold quality
visceral pleura	UBERON:0002401	96.86	gold quality
parietal pleura	UBERON:0002400	96.83	gold quality
amniotic fluid	UBERON:0000173	96.73	gold quality
eye	UBERON:0000970	96.71	gold quality
placenta	UBERON:0001987	96.48	gold quality
decidua	UBERON:0002450	96.30	gold quality
cartilage tissue	UBERON:0002418	96.07	gold quality
tendon of biceps brachii	UBERON:0008188	96.04	gold quality
cardiac muscle of right atrium	UBERON:0003379	95.94	gold quality
gingival epithelium	UBERON:0001949	95.93	gold quality
left ventricle myocardium	UBERON:0006566	95.85	gold quality
globus pallidus	UBERON:0001875	95.79	gold quality
mucosa of sigmoid colon	UBERON:0004993	95.50	gold quality
pigmented layer of retina	UBERON:0001782	95.23	gold quality
retina	UBERON:0000966	95.21	gold quality
endothelial cell	CL:0000115	95.11	gold quality
colonic mucosa	UBERON:0000317	95.02	gold quality
pericardium	UBERON:0002407	94.97	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	15.31

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

100 targeting MESD, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-329-3P	99.91	66.56	1234
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-362-3P	99.91	66.38	1267
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-1323	99.83	69.89	2471
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-548O-3P	99.74	69.30	2228

Literature-anchored findings (GeneRIF, showing 9)

• as a result of (12;15)(q13;q25)translocation, the SUMO/Sentrin-specific protease 1 gene (SENP1) on chromosome 12 and the embryonic polarity-related mesoderm development gene (MESDC2) on chromosome 15 are disrupted and fused (PMID:15917269)
• Mesd and LRP6 modulate Wnt signaling. (PMID:16989816)
• a high bone mass mutant LRP5(G171V), has subtly reduced Dkk1 binding, and, in contrast to LRP5, no enhancement of binding with MesD (PMID:19746449)
• Results provide evidence that MESD functions as a general LRP chaperone and suggest that the Mesd phenotype results from both signaling and endocytic defects resulting from misfolding of multiple LRP receptors. (PMID:21337463)
• Two structural and functional domains of MESD required for proper folding and trafficking of LRP5/LRP6. (PMID:21397183)
• Results indicate that Mesd is a universal inhibitor of Wnt/LRP signaling on the cell surface. (PMID:21907199)
• Mesd C-terminal region constitutes the major LRP5/6-binding domain, and that Mesd protein and its C-terminal region peptide have a potential therapeutic value in cancer (PMID:23469146)
• Osteogenesis imperfecta-associated MESD mutations produce hypomorphic alleles whose failure to remain within the endoplasmic reticulum significantly reduces but does not completely eliminate LRP5 and LRP6 trafficking (PMID:31564437)
• Compound Heterozygous Frameshift Mutations in MESD Cause a Lethal Syndrome Suggestive of Osteogenesis Imperfecta Type XX. (PMID:33596325)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	mesd	ENSDARG00000063030
mus_musculus	Mesd	ENSMUSG00000038503
rattus_norvegicus	Mesd	ENSRNOG00000012366
drosophila_melanogaster	boca	FBGN0004132
caenorhabditis_elegans		WBGENE00017293

Protein

Protein identifiers

LRP chaperone MESD — Q14696 (reviewed: Q14696)

Alternative names: LDLR chaperone MESD, Mesoderm development LRP chaperone MESD, Mesoderm development candidate 2, Mesoderm development protein, Renal carcinoma antigen NY-REN-61

All UniProt accessions (2): Q14696, H0YLI4

UniProt curated annotations — full annotation on UniProt →

Function. Chaperone specifically assisting the folding of beta-propeller/EGF modules within the family of low-density lipoprotein receptors (LDLRs). Acts as a modulator of the Wnt pathway through chaperoning the coreceptors of the canonical Wnt pathway, LRP5 and LRP6, to the plasma membrane. Essential for specification of embryonic polarity and mesoderm induction. Plays an essential role in neuromuscular junction (NMJ) formation by promoting cell-surface expression of LRP4. May regulate phagocytosis of apoptotic retinal pigment epithelium (RPE) cells.

Subunit / interactions. Monomer. Interacts with LRP5; the interaction prevents LRP5 from forming aggregates and chaperones LRP6 to the plasma membrane. Interacts with LRP6; the interaction prevents LRP6 from forming aggregates and chaperones LRP6 to the plasma membrane. Interacts with LRP4; the interaction promotes glycosylation of LRP4 and its cell-surface expression.

Subcellular location. Endoplasmic reticulum.

Disease relevance. Osteogenesis imperfecta 20 (OI20) [MIM:618644] An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI20 is a progressive deforming form characterized by osteopenia, skeletal deformity, healed fractures, and newly-acquired fractures. Death due to respiratory failure can occur in some patients. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The chaperone domain provides a folding template for proper folding of the beta-propeller (BP) domains of LRP5/6. The escort domain ensures LRP5/6 safe-trafficking from the ER to the Golgi by preventing premature ligand-binding.

Similarity. Belongs to the MESD family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q14696-1	1	yes
Q14696-2	2

RefSeq proteins (1): NP_055969* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019330	MESD	Family

Pfam: PF10185

UniProt features (14 total): region of interest 4, compositionally biased region 3, splice variant 2, signal peptide 1, chain 1, glycosylation site 1, sequence variant 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14696-F1	67.50	0.26

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (1): 201

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 220 (showing top): GOBP_NEUROMUSCULAR_JUNCTION_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_REGULATION_OF_GLYCOPROTEIN_METABOLIC_PROCESS, GOBP_PROTEIN_MATURATION, GOBP_CELL_JUNCTION_ORGANIZATION, UEDA_PERIFERAL_CLOCK, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_DN, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_CELLULAR_LOCALIZATION, GOBP_POSTSYNAPTIC_MEMBRANE_ORGANIZATION

GO Biological Process (9): ossification (GO:0001503), protein folding (GO:0006457), phagocytosis (GO:0006909), mesoderm development (GO:0007498), Wnt signaling pathway (GO:0016055), positive regulation of Wnt signaling pathway (GO:0030177), protein localization to cell surface (GO:0034394), protein localization to plasma membrane (GO:0072659), positive regulation of skeletal muscle acetylcholine-gated channel clustering (GO:1904395)

GO Molecular Function (4): identical protein binding (GO:0042802), protein folding chaperone (GO:0044183), low-density lipoprotein particle receptor binding (GO:0050750), protein binding (GO:0005515)

GO Cellular Component (2): endoplasmic reticulum (GO:0005783), plasma membrane (GO:0005886)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
multicellular organismal process	1
cellular process	1
protein maturation	1
endocytosis	1
tissue development	1
cell surface receptor signaling pathway	1
positive regulation of signal transduction	1
Wnt signaling pathway	1
regulation of Wnt signaling pathway	1
intracellular protein localization	1
protein localization to membrane	1
protein localization to cell periphery	1
skeletal muscle acetylcholine-gated channel clustering	1
positive regulation of receptor clustering	1
regulation of skeletal muscle acetylcholine-gated channel clustering	1
protein binding	1
molecular_function	1
protein folding	1
lipoprotein particle receptor binding	1
binding	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

612 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MESD	LRP5	O75197	914
MESD	LRP6	O75581	859
MESD	SENP1	Q9P0U3	739
MESD	WNT3	P56703	729
MESD	SENP3	Q9H4L4	649
MESD	DKK1	O94907	635
MESD	TLNRD1	Q9H1K6	548
MESD	TMEM38B	Q9NVV0	524
MESD	SOST	Q9BQB4	502
MESD	PML	P29590	497
MESD	RANGAP1	P46060	497
MESD	NEDD8	Q15843	495
MESD	CCDC134	Q9H6E4	494
MESD	CRTAP	O75718	479
MESD	TENT5A	Q96IP4	479

IntAct

258 interactions, top by confidence:

A	B	Type	Score
MESD	FAM13C	psi-mi:“MI:0915”(physical association)	0.560
MAGEB4	MESD	psi-mi:“MI:0915”(physical association)	0.560
TPM2	MESD	psi-mi:“MI:0915”(physical association)	0.560
MESD	RCOR3	psi-mi:“MI:0915”(physical association)	0.560
MESD	CUTC	psi-mi:“MI:0915”(physical association)	0.560
AKT1	MESD	psi-mi:“MI:0915”(physical association)	0.560
MESD	ACBD7	psi-mi:“MI:0915”(physical association)	0.560
MESD	TEX12	psi-mi:“MI:0915”(physical association)	0.560
MESD	AKIRIN2	psi-mi:“MI:0915”(physical association)	0.560
H2AB2	MESD	psi-mi:“MI:0915”(physical association)	0.560
MESD	NRDE2	psi-mi:“MI:0915”(physical association)	0.560
MESD	LY96	psi-mi:“MI:0915”(physical association)	0.560
COL1A2	MESD	psi-mi:“MI:0915”(physical association)	0.560
MESD	ENKD1	psi-mi:“MI:0915”(physical association)	0.560
MESD	CENPH	psi-mi:“MI:0915”(physical association)	0.560
MESD	ASH2L	psi-mi:“MI:0915”(physical association)	0.560
MESD	ABCG8	psi-mi:“MI:0915”(physical association)	0.560
TTC21A	MESD	psi-mi:“MI:0915”(physical association)	0.560
SMARCB1	MESD	psi-mi:“MI:0915”(physical association)	0.560
MESD	ARB2A	psi-mi:“MI:0915”(physical association)	0.560
MESD	ATP6V1E2	psi-mi:“MI:0915”(physical association)	0.560
MESD	SIK1	psi-mi:“MI:0915”(physical association)	0.560
MESD	CDR2L	psi-mi:“MI:0915”(physical association)	0.560
MESD	LCE1A	psi-mi:“MI:0915”(physical association)	0.560
FCER1A	MESD	psi-mi:“MI:0915”(physical association)	0.560
MESD	CENATAC	psi-mi:“MI:0915”(physical association)	0.560
MESD	ABITRAM	psi-mi:“MI:0915”(physical association)	0.560
MESD	TRMT2A	psi-mi:“MI:0915”(physical association)	0.560
MESD	C17orf75	psi-mi:“MI:0915”(physical association)	0.560
MESD	MAP1LC3B	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (176): MESDC2 (Affinity Capture-MS), MESDC2 (Affinity Capture-MS), MESDC2 (Affinity Capture-MS), MESDC2 (Affinity Capture-MS), MESDC2 (Co-fractionation), MESDC2 (Co-fractionation), MESDC2 (Co-fractionation), MESDC2 (Co-fractionation), PDIA6 (Co-fractionation), RPS6KA4 (Co-fractionation), SARS (Co-fractionation), TMPO (Co-fractionation), MESDC2 (Affinity Capture-MS), MESDC2 (Proximity Label-MS), MESDC2 (Affinity Capture-MS)

ESM2 similar proteins: A1L243, A4IGY3, A6H767, E1C760, F4ICK8, F7AEX0, O08837, O57476, P26446, P28656, P48724, P55010, P55209, P55876, P59325, Q07205, Q14696, Q16543, Q28EB4, Q2KJC1, Q3T0U1, Q3ZC50, Q4SK88, Q4U0Y4, Q5EAC6, Q5H7N8, Q5R4D4, Q5R4L0, Q5R6F1, Q5U2R7, Q5ZKK4, Q61081, Q63692, Q64267, Q69ZX6, Q6A068, Q6DD06, Q6PFQ2, Q803J8, Q8T9B6

Diamond homologs: A1L243, Q14696, Q3T0U1, Q5R6F1, Q5U2R7, Q5ZKK4, Q8T9B6, Q9ERE7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

73 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	2
Uncertain significance	35
Likely benign	26
Benign	1

Top pathogenic / likely-pathogenic (7)

Variant ID	HGVS	Classification
2087817	NM_015154.3(MESD):c.556G>T (p.Glu186Ter)	Pathogenic
2443890	NM_015154.3(MESD):c.265del (p.Ala89fs)	Pathogenic
4761793	NM_015154.3(MESD):c.510del (p.Lys171fs)	Pathogenic
692263	NM_015154.3(MESD):c.676C>T (p.Arg226Ter)	Pathogenic
692265	NM_015154.3(MESD):c.607_611del (p.Thr203fs)	Pathogenic
692262	NM_015154.3(MESD):c.632dup (p.Lys212fs)	Likely pathogenic
692264	NM_015154.3(MESD):c.631_632del (p.Lys211fs)	Likely pathogenic

SpliceAI

1544 predictions. Top by Δscore:

Variant	Effect	Δscore
15:80979256:T:TA	donor_gain	1.0000
15:80982179:CTTT:C	acceptor_gain	1.0000
15:80982191:T:TC	acceptor_gain	1.0000
15:80989580:T:TA	donor_gain	1.0000
15:80989581:C:A	donor_gain	1.0000
15:80948795:A:AG	acceptor_gain	0.9900
15:80948796:G:GG	acceptor_gain	0.9900
15:80948894:CATCC:C	acceptor_gain	0.9900
15:80948896:TCC:T	acceptor_gain	0.9900
15:80948897:CCC:C	acceptor_gain	0.9900
15:80981949:CCT:C	donor_gain	0.9900
15:80982004:T:A	donor_gain	0.9900
15:80982030:T:TA	donor_gain	0.9900
15:80982063:C:A	donor_gain	0.9900
15:80982181:TT:T	acceptor_gain	0.9900
15:80982183:C:CC	acceptor_gain	0.9900
15:80982183:C:T	acceptor_loss	0.9900
15:80982187:C:CT	acceptor_gain	0.9900
15:80982188:A:T	acceptor_gain	0.9900
15:80982191:T:C	acceptor_gain	0.9900
15:80946963:A:AG	acceptor_gain	0.9800
15:80946964:G:GG	acceptor_gain	0.9800
15:80948791:TTTCA:T	acceptor_loss	0.9800
15:80948792:TTCAG:T	acceptor_loss	0.9800
15:80948794:CAGA:C	acceptor_loss	0.9800
15:80948796:G:T	acceptor_loss	0.9800
15:80948796:GAGC:G	acceptor_gain	0.9800
15:80948897:CC:C	acceptor_gain	0.9800
15:80948898:CC:C	acceptor_gain	0.9800
15:80948899:C:A	acceptor_loss	0.9800

AlphaMissense

1533 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:80981990:A:G	W136R	1.000
15:80981990:A:T	W136R	1.000
15:80982045:A:C	F117L	1.000
15:80982045:A:T	F117L	1.000
15:80982046:A:C	F117C	1.000
15:80982047:A:G	F117L	1.000
15:80989582:C:A	W70C	1.000
15:80989582:C:G	W70C	1.000
15:80979424:G:T	A167D	0.999
15:80979433:C:T	G164E	0.999
15:80979451:A:T	I158N	0.999
15:80979457:C:G	R156P	0.999
15:80979474:G:C	F150L	0.999
15:80979474:G:T	F150L	0.999
15:80979475:A:C	F150C	0.999
15:80979475:A:G	F150S	0.999
15:80979476:A:G	F150L	0.999
15:80981988:C:A	W136C	0.999
15:80981988:C:G	W136C	0.999
15:80982046:A:G	F117S	0.999
15:80982052:A:G	M115T	0.999
15:80982069:T:A	K109N	0.999
15:80982069:T:G	K109N	0.999
15:80989584:A:G	W70R	0.999
15:80989584:A:T	W70R	0.999
15:80979384:A:C	C180W	0.998
15:80979386:A:G	C180R	0.998
15:80979434:C:A	G164W	0.998
15:80979451:A:G	I158T	0.998
15:80981956:A:T	V147D	0.998

dbSNP variants (sampled 300 via entrez): RS1000028809 (15:80986603 T>C), RS1000038399 (15:80979851 T>C,G), RS1000089915 (15:80953229 G>A,C), RS1000164765 (15:80960573 G>A,C), RS1000167741 (15:80980756 T>C), RS1000180280 (15:80957177 CAG>C), RS1000210876 (15:80990557 C>T), RS1000309006 (15:80959651 C>A,T), RS1000312818 (15:80986899 G>A), RS1000455628 (15:80963219 G>A), RS1000629360 (15:80989105 T>C), RS1000637487 (15:80976760 A>G,T), RS1000827791 (15:80963506 G>C), RS1000829093 (15:80982310 C>T), RS1000887878 (15:80971817 A>G)

Disease associations

OMIM: gene MIM:607783 | disease phenotypes: MIM:618644

GenCC curated gene-disease

Disease	Classification	Inheritance
osteogenesis imperfecta, type 20	Strong	Autosomal recessive
osteogenesis imperfecta type 2	Supportive	Autosomal dominant

Mondo (2): osteogenesis imperfecta, type 20 (MONDO:0032846), osteogenesis imperfecta type 2 (MONDO:0008147)

Orphanet (0):

HPO phenotypes

31 total (30 of 31 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000189	Narrow palate
HP:0000218	High palate
HP:0000248	Brachycephaly
HP:0000252	Microcephaly
HP:0000278	Retrognathia
HP:0000303	Mandibular prognathia
HP:0000307	Pointed chin
HP:0000358	Posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000414	Bulbous nose
HP:0000592	Blue sclerae
HP:0000750	Delayed speech and language development
HP:0000774	Narrow chest
HP:0001263	Global developmental delay
HP:0001357	Plagiocephaly
HP:0001511	Intrauterine growth retardation
HP:0001555	Asymmetry of the thorax
HP:0002194	Delayed gross motor development
HP:0002553	Highly arched eyebrow
HP:0002645	Wormian bones
HP:0002751	Kyphoscoliosis
HP:0002953	Vertebral compression fracture
HP:0005338	Sparse lateral eyebrow
HP:0005855	Multiple prenatal fractures
HP:0006349	Agenesis of permanent teeth
HP:0008070	Sparse hair
HP:0008873	Disproportionate short-limb short stature
HP:0009901	Crumpled ear
HP:0010804	Tented upper lip vermilion

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST005951_10	Body mass index	2.000000e-08
GCST006585_634	Blood protein levels	2.000000e-06
GCST010796_4773	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0004327	electrocardiography

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C536042	Osteogenesis imperfecta, type 2A (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, decreases expression	3
Cyclosporine	decreases expression, increases expression	3
bisphenol F	increases expression	1
triphenyl phosphate	affects expression	1
decabromobiphenyl ether	decreases expression	1
sodium arsenite	decreases expression	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
LDN 193189	affects cotreatment, increases expression	1
bisphenol AF	increases expression	1
Arsenic Trioxide	decreases reaction, affects binding	1
Ivermectin	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Thiram	decreases expression	1
Valproic Acid	increases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

1 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT01061099	PHASE1	COMPLETED	Repeated Infusions of Mesenchymal Stromal Cells in Children With Osteogenesis Imperfecta