BMP5

Summary

BMP5 (bone morphogenetic protein 5, HGNC:1072) is a protein-coding gene on chromosome 6p12.1, encoding Bone morphogenetic protein 5 (P22003). Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including cartilage and bone formation or neurogenesis.

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Polymorphisms in this gene may be associated with osteoarthritis in human patients. This gene is differentially regulated in multiple human cancers. This gene encodes distinct protein isoforms that may be similarly proteolytically processed.

Source: NCBI Gene 653 — RefSeq curated summary.

At a glance

• Gene–disease (curated): dysostosis (Limited, GenCC) — +1 more curated relationship
• GWAS associations: 16
• Clinical variants (ClinVar): 105 total — 1 pathogenic, 2 likely-pathogenic
• MANE Select transcript: NM_021073

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1072
Approved symbol	BMP5
Name	bone morphogenetic protein 5
Location	6p12.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000112175
Ensembl biotype	protein_coding
OMIM	112265
Entrez	653

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000370830, ENST00000901523

RefSeq mRNA: 3 — MANE Select: NM_021073 NM_001329754, NM_001329756, NM_021073

CCDS: CCDS4958

Canonical transcript exons

ENST00000370830 — 7 exons

Exon	Start	End
ENSE00001135074	55760457	55760533
ENSE00001135084	55774049	55774243
ENSE00001135095	55794279	55794427
ENSE00001135103	55819655	55819847
ENSE00001864172	55874376	55875590
ENSE00001875647	55753653	55755682
ENSE00001878166	55759005	55759115

Expression profiles

Bgee: expression breadth ubiquitous, 153 present calls, max score 94.67.

FANTOM5 (CAGE): breadth broad, TPM avg 2.7446 / max 204.9225, expressed in 387 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
74053	2.1874	367
74052	0.1913	84
74046	0.1269	56
74048	0.0956	46
74050	0.0457	20
74045	0.0374	20
74047	0.0294	12
74049	0.0188	5
74051	0.0119	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	94.67	gold quality
islet of Langerhans	UBERON:0000006	91.21	gold quality
cartilage tissue	UBERON:0002418	88.31	gold quality
tibia	UBERON:0000979	88.18	gold quality
placenta	UBERON:0001987	85.61	gold quality
tendon	UBERON:0000043	81.08	gold quality
choroid plexus epithelium	UBERON:0003911	80.93	gold quality
mucosa of urinary bladder	UBERON:0001259	80.69	gold quality
rectum	UBERON:0001052	79.37	gold quality
jejunal mucosa	UBERON:0000399	77.65	gold quality
right lung	UBERON:0002167	77.51	gold quality
urinary bladder	UBERON:0001255	76.74	gold quality
lung	UBERON:0002048	76.60	gold quality
adrenal tissue	UBERON:0018303	76.53	gold quality
upper lobe of left lung	UBERON:0008952	76.29	gold quality
upper lobe of lung	UBERON:0008948	75.82	gold quality
mucosa of transverse colon	UBERON:0004991	75.78	gold quality
duodenum	UBERON:0002114	75.19	gold quality
ileal mucosa	UBERON:0000331	73.47	gold quality
tibialis anterior	UBERON:0001385	73.10	silver quality
colonic epithelium	UBERON:0000397	72.89	gold quality
muscle of leg	UBERON:0001383	72.77	gold quality
trabecular bone tissue	UBERON:0002483	72.70	gold quality
gastrocnemius	UBERON:0001388	71.63	gold quality
lower lobe of lung	UBERON:0008949	71.59	gold quality
type B pancreatic cell	CL:0000169	71.40	gold quality
hindlimb stylopod muscle	UBERON:0004252	70.62	gold quality
synovial joint	UBERON:0002217	70.21	gold quality
mucosa of sigmoid colon	UBERON:0004993	70.11	gold quality
layer of synovial tissue	UBERON:0007616	69.86	silver quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-ENAD-27	yes	718.13
E-GEOD-81608	yes	418.61
E-GEOD-135922	yes	48.11
E-MTAB-5061	yes	17.25
E-HCAD-4	yes	17.06
E-ANND-3	yes	12.42
E-GEOD-83139	yes	12.35
E-CURD-112	yes	8.83

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

3 targets.

Target	Regulation
BMP2	Activation
RUNX2	Activation
SPP1	Activation

Upstream regulators (CollecTRI, top): NANOGP8, PRDM1

Literature-anchored findings (GeneRIF, showing 21)

• The expression signals of BMP-5 mRNA in malignant schwannoma were relatively lower than in benign lesions (PMID:11642720)
• BMP-5 increases the levels of osteopontin, BMP-2, alkaline phosphatase and core binding factor alpha 1 mRNAs in human periodontal (HPL) ligament cells. (PMID:15516325)
• To analyze the expression of bone morphogenetic proteins (BMPs) in prostate and breast cancers with established metastasis in bone (PMID:15861517)
• BMP5 is expressed in normal synovial tissue and was decreased in osteoarthritis and rheumatoid arthritis. (PMID:16542506)
• The differential allelic expression (DAE) of BMP5 in human mesenchymal tissues obtained from 16 donors undergoing joint replacement for treatment of osteoarthritis, was examined. (PMID:17220169)
• Approximately half of the prostate tumors displayed increased copy numbers of the BMP2, BMP5, BMP7, and UC28 gene loci, which may account for their abnormal gene expression patterns in neoplastic prostate tissue. (PMID:17656261)
• Quantitative PCR analysis revealed down-regulation of BMP2 and BMP5 in tissue samples from adrenocortical carcinoma and adrenocortical tumor cell lines compared with normal adrenal glands. (PMID:19584291)
• Variability in gene expression of BMP5 may be an important contributor to osteoarthritis genetic susceptibility (PMID:20021689)
• BMP-5 is expressed in the tubuli of adult kidneys. Its decreased expression in nephrosclerosis along with its regenerative capabilities in HK-2 cells may point to a protective role in hypertensive nephrosclerosis. (PMID:21319131)
• Taken together, BMP4 and BMP5 simultaneously inhibit the growth and promote migration and invasion of the same pancreatic cells and thus exhibit a biphasic role with both detrimental and beneficial functions in pancreatic cancer progression (PMID:21704030)
• CASP3 rs4862396, BMP5 rs3734444 and IRS2 rs7986346 may affect the survival in patients after androgen-deprivation therapy for prostate cancer (PMID:22844442)
• Data indicate significant association between the bone morphogenetic protein 5 (BMP5) microsatellite and knee osteoarthritis (OA) in women, but not in men. (PMID:23186552)
• BMP5 and BMP7, involved in cardiomyocyte differentiation defect (PMID:24384427)
• BMP5, is elevated in the stenotic colon segment of Hirschsprung disease patients, and BMP5 signaling may play a pivotal role in disease development. (PMID:24551273)
• Our results showed that ASPN rs13301537 T to C change and variant C genotype may contribute to knee OA risk in a Chinese Han population. (PMID:25030405)
• findings suggested that BMP5 might be a potential prognostic biomarker or therapeutic target for patients with NSCLC (PMID:25994008)
• Our results indicate significant association of rs1470527 and rs9382564 polymorphism of BMP5 gene with KOA [knee Osteoarthritis ] (PMID:28695869)
• Suggest a significant role of miR-32/BMP5 axis in colorectal cancer tumorigenesis. (PMID:30119170)
• The tumor suppressor role of BMP5 highlights its crucial role in CRC initiation and development. (PMID:30572883)
• Detection of circulating BMP5 as a risk factor for Barrett’s esophagus. (PMID:32968094)
• G9a Knockdown Suppresses Cancer Aggressiveness by Facilitating Smad Protein Phosphorylation through Increasing BMP5 Expression in Luminal A Type Breast Cancer. (PMID:35054776)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	bmp5	ENSDARG00000101701
mus_musculus	Bmp5	ENSMUSG00000032179
rattus_norvegicus	Bmp5	ENSRNOG00000010917

Paralogs (31): TGFB2 (ENSG00000092969), BMP7 (ENSG00000101144), TGFB1 (ENSG00000105329), BMP8B (ENSG00000116985), TGFB3 (ENSG00000119699), INHBA (ENSG00000122641), INHA (ENSG00000123999), BMP4 (ENSG00000125378), BMP2 (ENSG00000125845), GDF5 (ENSG00000125965), GDF1 (ENSG00000130283), BMP15 (ENSG00000130385), GDF15 (ENSG00000130513), GDF11 (ENSG00000135414), MSTN (ENSG00000138379), INHBE (ENSG00000139269), LEFTY2 (ENSG00000143768), GDF7 (ENSG00000143869), BMP3 (ENSG00000152785), BMP6 (ENSG00000153162), GDF6 (ENSG00000156466), NODAL (ENSG00000156574), INHBB (ENSG00000163083), BMP10 (ENSG00000163217), GDF9 (ENSG00000164404), INHBC (ENSG00000175189), BMP8A (ENSG00000183682), GDF3 (ENSG00000184344), LEFTY1 (ENSG00000243709), GDF2 (ENSG00000263761), GDF10 (ENSG00000266524)

Protein

Protein identifiers

Bone morphogenetic protein 5 — P22003 (reviewed: P22003)

All UniProt accessions (2): P22003, M9VUD0

UniProt curated annotations — full annotation on UniProt →

Function. Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including cartilage and bone formation or neurogenesis. Initiates the canonical BMP signaling cascade by associating with type I receptor BMPR1A and type II receptor BMPR2. In turn, BMPR1A propagates signal by phosphorylating SMAD1/5/8 that travel to the nucleus and act as activators and repressors of transcription of target genes. Can also signal through non-canonical pathway such as MAPK p38 signaling cascade to promote chondrogenic differentiation. Promotes the expression of HAMP, this is repressed by its interaction with ERFE.

Subunit / interactions. Interacts with ERFE; the interaction inhibits BMP-induced transcription of HAMP.

Subcellular location. Secreted.

Tissue specificity. Expressed in the lung and liver.

Similarity. Belongs to the TGF-beta family.

Isoforms (2)

UniProt ID	Names	Canonical?
P22003-1	1	yes
P22003-2	2

RefSeq proteins (3): NP_001316683, NP_001316685, NP_066551* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001111	TGF-b_propeptide	Domain
IPR001839	TGF-b_C	Domain
IPR015615	TGF-beta-like	Family
IPR017948	TGFb_CS	Conserved_site
IPR029034	Cystine-knot_cytokine	Homologous_superfamily

Pfam: PF00019, PF00688

UniProt features (16 total): disulfide bond 4, glycosylation site 4, sequence variant 2, signal peptide 1, propeptide 1, splice variant 1, chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P22003-F1	74.85	0.43

Functional residue map

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

Disulfide bonds (4): 382–451, 386–453, 418, 353–419

Glycosylation sites (4): 211, 327, 345, 395

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 348 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, GOBP_CARDIAC_CHAMBER_DEVELOPMENT, GOBP_SMAD_PROTEIN_SIGNAL_TRANSDUCTION, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_DENDRITE_DEVELOPMENT, GOBP_LABYRINTHINE_LAYER_DEVELOPMENT, GOBP_HINDBRAIN_DEVELOPMENT, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, FREAC2_01, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_CARDIAC_SEPTUM_DEVELOPMENT, GOBP_CARTILAGE_DEVELOPMENT, KEGG_HEDGEHOG_SIGNALING_PATHWAY

GO Biological Process (38): skeletal system development (GO:0001501), ossification (GO:0001503), endocardial cushion formation (GO:0003272), type B pancreatic cell development (GO:0003323), pericardium morphogenesis (GO:0003344), pattern specification process (GO:0007389), heart development (GO:0007507), positive regulation of cell population proliferation (GO:0008284), negative regulation of cell population proliferation (GO:0008285), negative regulation of epithelial to mesenchymal transition (GO:0010719), negative regulation of steroid biosynthetic process (GO:0010894), neural fold elevation formation (GO:0021502), BMP signaling pathway (GO:0030509), male genitalia development (GO:0030539), hindbrain development (GO:0030902), negative regulation of aldosterone biosynthetic process (GO:0032348), negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569), ear development (GO:0043583), positive regulation of transcription by RNA polymerase II (GO:0045944), cardiac muscle tissue development (GO:0048738), positive regulation of epithelial cell proliferation (GO:0050679), cartilage development (GO:0051216), pharyngeal system development (GO:0060037), positive regulation of SMAD protein signal transduction (GO:0060391), cardiac septum morphogenesis (GO:0060411), chorio-allantoic fusion (GO:0060710), heart trabecula morphogenesis (GO:0061384), negative regulation of mononuclear cell migration (GO:0071676), anterior head development (GO:0097065), positive regulation of dendrite development (GO:1900006), negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042), allantois development (GO:1905069), negative regulation of cortisol biosynthetic process (GO:2000065), tissue development (GO:0009888), cell differentiation (GO:0030154), regulation of cell population proliferation (GO:0042127), cell development (GO:0048468), positive regulation of developmental process (GO:0051094)

GO Molecular Function (4): cytokine activity (GO:0005125), growth factor activity (GO:0008083), BMP receptor binding (GO:0070700), protein binding (GO:0005515)

GO Cellular Component (3): obsolete extracellular space (GO:0005615), vesicle (GO:0031982), extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
multicellular organismal process	2
anatomical structure formation involved in morphogenesis	2
cell population proliferation	2
regulation of cell population proliferation	2
receptor ligand activity	2
system development	1
endocardial cushion morphogenesis	1
epithelial cell development	1
type B pancreatic cell differentiation	1
morphogenesis of an epithelial sheet	1
embryonic morphogenesis	1
pericardium development	1
multicellular organism development	1
animal organ development	1
circulatory system development	1
positive regulation of cellular process	1
negative regulation of cellular process	1
epithelial to mesenchymal transition	1
regulation of epithelial to mesenchymal transition	1
negative regulation of cell differentiation	1
negative regulation of multicellular organismal process	1
steroid biosynthetic process	1
negative regulation of steroid metabolic process	1
regulation of steroid biosynthetic process	1
negative regulation of lipid biosynthetic process	1
neural fold formation	1
cellular response to BMP stimulus	1
transforming growth factor beta receptor superfamily signaling pathway	1
male sex differentiation	1
genitalia development	1
reproductive system development	1
brain development	1
anatomical structure development	1
aldosterone biosynthetic process	1
regulation of aldosterone biosynthetic process	1
negative regulation of steroid hormone biosynthetic process	1
negative regulation of alcohol biosynthetic process	1
negative regulation of signal transduction	1
regulation of insulin-like growth factor receptor signaling pathway	1
insulin-like growth factor receptor signaling pathway	1

Protein interactions and networks

STRING

1386 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BMP5	BMPR1A	P36894	903
BMP5	BMPR2	Q13873	897
BMP5	NOG	Q13253	864
BMP5	FST	P19883	811
BMP5	ACVR2A	P27037	797
BMP5	HJV	Q6ZVN8	786
BMP5	ACVR2B	Q13705	782
BMP5	CHRD	Q9H2X0	776
BMP5	BMPR1B	P78366	752
BMP5	ACVR1	Q04771	744
BMP5	FBN1	P35555	702
BMP5	SOST	Q9BQB4	701
BMP5	CHRDL2	Q6WN34	675
BMP5	TWSG1	Q9GZX9	674
BMP5	BMP1	P13497	605
BMP5	GREM2	Q9H772	605

IntAct

10 interactions, top by confidence:

A	B	Type	Score
BMP5	MEOX2	psi-mi:“MI:0915”(physical association)	0.560
BMP5	VWA8	psi-mi:“MI:0914”(association)	0.350
BMP4	A2ML1	psi-mi:“MI:0914”(association)	0.350
C1orf54	QSOX1	psi-mi:“MI:0914”(association)	0.350
C1QTNF9B	DNASE2	psi-mi:“MI:0914”(association)	0.350
PATE1	AGRN	psi-mi:“MI:0914”(association)	0.350
BMP5	MEOX2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (6): HBB (Affinity Capture-MS), VWA8 (Affinity Capture-MS), ANKRD46 (Affinity Capture-MS), BMP5 (Two-hybrid), VWA8 (Affinity Capture-MS), HBB (Affinity Capture-MS)

ESM2 similar proteins: A0A0N9E2K8, A0A1D5NSK0, A0A8M9PFP2, G5ECS8, G5EFD9, O15072, O18767, O43909, O60882, O62806, O77656, O93470, P07152, P22003, P23097, P28825, P29788, P33435, P49003, P57748, P79287, Q10835, Q11005, Q14703, Q16819, Q16820, Q19791, Q24025, Q3U435, Q568B8, Q61847, Q64230, Q6GQB9, Q6NP60, Q8CGD2, Q8K3F2, Q8N119, Q8R4K8, Q8VDA1, Q90YC2

Diamond homologs: A1C2U3, A1C2U6, A1C2U7, A1C2V0, A1C2V5, A8E7N9, G5EEL5, O08689, O14793, O18828, O18830, O18831, O18836, O35312, O42220, O42221, O42222, O46576, O61643, O95390, O95393, P09534, P12644, P12645, P17491, P18075, P20722, P20863, P22003, P22004, P22444, P23359, P27091, P27539, P35621, P43026, P43027, P43028, P43029, P48970

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
NANOGP8	“down-regulates quantity by repression”	BMP5	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	2
Uncertain significance	71
Likely benign	9
Benign	8

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
58429	GRCh38/hg38 6p12.1(chr6:54263893-56826637)x1	Pathogenic
3236159	NM_021073.4(BMP5):c.1104+2del	Likely pathogenic
3236160	NM_021073.4(BMP5):c.88_89del (p.Gly30fs)	Likely pathogenic

SpliceAI

1736 predictions. Top by Δscore:

Variant	Effect	Δscore
6:55794277:ACCAT:A	donor_gain	1.0000
6:55794278:CCATC:C	donor_gain	1.0000
6:55819657:A:AC	donor_gain	1.0000
6:55819843:TTCAA:T	acceptor_gain	1.0000
6:55819845:CAA:C	acceptor_gain	1.0000
6:55819848:C:CC	acceptor_gain	1.0000
6:55819856:A:AC	acceptor_gain	1.0000
6:55819856:A:C	acceptor_gain	1.0000
6:55759123:A:C	acceptor_gain	0.9900
6:55774240:CGTC:C	acceptor_gain	0.9900
6:55774241:GTCC:G	acceptor_loss	0.9900
6:55774242:TC:T	acceptor_gain	0.9900
6:55774243:CC:C	acceptor_gain	0.9900
6:55774243:CCTAG:C	acceptor_loss	0.9900
6:55774244:C:CC	acceptor_gain	0.9900
6:55774245:T:C	acceptor_loss	0.9900
6:55774250:C:CT	acceptor_gain	0.9900
6:55776185:A:AC	donor_gain	0.9900
6:55776783:A:C	donor_gain	0.9900
6:55794273:GCTT:G	donor_loss	0.9900
6:55794274:CTTA:C	donor_loss	0.9900
6:55794275:T:TC	donor_loss	0.9900
6:55794276:TACCA:T	donor_loss	0.9900
6:55794277:A:T	donor_loss	0.9900
6:55794278:C:CA	donor_loss	0.9900
6:55794278:CCAT:C	donor_gain	0.9900
6:55794329:A:C	donor_gain	0.9900
6:55794426:CC:C	acceptor_gain	0.9900
6:55794427:CC:C	acceptor_gain	0.9900
6:55794428:C:CA	acceptor_loss	0.9900

AlphaMissense

3006 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:55755539:G:C	C453W	1.000
6:55755540:C:A	C453F	1.000
6:55755540:C:G	C453S	1.000
6:55755540:C:T	C453Y	1.000
6:55755541:A:G	C453R	1.000
6:55755541:A:T	C453S	1.000
6:55755543:C:A	G452V	1.000
6:55755543:C:T	G452D	1.000
6:55755544:C:A	G452C	1.000
6:55755544:C:G	G452R	1.000
6:55755545:A:C	C451W	1.000
6:55755546:C:A	C451F	1.000
6:55755546:C:G	C451S	1.000
6:55755546:C:T	C451Y	1.000
6:55755547:A:G	C451R	1.000
6:55755547:A:T	C451S	1.000
6:55755560:C:A	M446I	1.000
6:55755560:C:G	M446I	1.000
6:55755560:C:T	M446I	1.000
6:55755561:A:C	M446R	1.000
6:55755575:T:A	K441N	1.000
6:55755575:T:G	K441N	1.000
6:55755579:A:G	L440S	1.000
6:55755585:A:T	V438D	1.000
6:55755609:A:G	L430P	1.000
6:55755609:A:T	L430Q	1.000
6:55755612:A:T	V429D	1.000
6:55755627:A:G	L424S	1.000
6:55755636:G:C	P421R	1.000
6:55755636:G:T	P421Q	1.000

dbSNP variants (sampled 300 via entrez): RS1000048084 (6:55795311 G>A,C), RS1000074248 (6:55774962 T>C), RS1000077555 (6:55795552 GA>G,GAA), RS1000094031 (6:55863025 C>A,T), RS1000109328 (6:55791790 A>G,T), RS1000168494 (6:55869298 T>C), RS1000233145 (6:55822424 G>A), RS1000261297 (6:55815282 T>A,C), RS1000296850 (6:55816526 T>C), RS1000318380 (6:55874786 CCTTTTGCATAACCCA>C), RS1000349405 (6:55858241 AT>A,ATT), RS1000364792 (6:55864860 T>C), RS1000380140 (6:55834821 C>G), RS1000418475 (6:55835551 A>C), RS1000426418 (6:55876481 A>G)

Disease associations

OMIM: gene MIM:112265 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
dysostosis	Limited	Autosomal recessive
skeletal dysplasia	Limited	Autosomal recessive

Mondo (2): dysostosis (MONDO:0018234), skeletal dysplasia (MONDO:0018230)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

16 associations (top):

Study	Trait	p-value
GCST002934_12	Zinc levels	4.000000e-06
GCST006288_129	Heel bone mineral density	3.000000e-07
GCST006288_452	Heel bone mineral density	3.000000e-07
GCST006288_453	Heel bone mineral density	1.000000e-14
GCST006288_455	Heel bone mineral density	9.000000e-16
GCST006288_549	Heel bone mineral density	4.000000e-11
GCST006288_550	Heel bone mineral density	9.000000e-15
GCST006288_551	Heel bone mineral density	6.000000e-23
GCST006979_289	Heel bone mineral density	6.000000e-48
GCST006979_290	Heel bone mineral density	1.000000e-37
GCST006979_291	Heel bone mineral density	2.000000e-12
GCST007856_35	Colorectal cancer or advanced adenoma	3.000000e-09
GCST007856_63	Colorectal cancer or advanced adenoma	2.000000e-07
GCST008153_38	Lean body mass	8.000000e-06
GCST012308_12	Schizophrenia	3.000000e-06
GCST012309_13	Schizophrenia	3.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0009270	heel bone mineral density
EFO:0004995	lean body mass

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D004413	Dysostoses	C05.116.099.370

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs41271330	Efficacy	3	escitalopram	Major Depressive Disorder

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs41271330	BMP5	3	5.25	1	escitalopram

CTD chemical–gene interactions

45 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, decreases methylation	7
trichostatin A	affects cotreatment, increases expression	3
mercuric bromide	increases expression, affects cotreatment	2
entinostat	increases expression, affects cotreatment	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	2
belinostat	affects cotreatment, increases expression	2
Vorinostat	affects cotreatment, increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, increases expression	2
methylmercuric chloride	increases expression	1
ascorbate-2-phosphate	affects binding, affects cotreatment, increases expression	1
kojic acid	decreases expression	1
beta-lapachone	decreases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
sodium arsenite	decreases expression	1
4-(2-(5,6,7,8-tetrahydro-5,5,8,8-tetramethyl-2-naphthalenyl)-1-propenyl)benzoic acid	affects cotreatment, increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
cyanoginosin LR	increases expression	1
monoisoamyl-2,3-dimercaptosuccinate	increases expression	1
Chir 99021	affects cotreatment, increases expression, affects binding	1
dorsomorphin	affects cotreatment, increases expression	1
XAV939	affects cotreatment, increases expression, affects binding	1
LDN 193189	affects cotreatment, increases expression	1
3-(4-pyridyl)-1H-indole	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	affects response to substance	1
Sunitinib	decreases expression	1
Glyphosate	decreases expression	1
Ascorbic Acid	affects binding, affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00001754	Not specified	COMPLETED	Study of Skeletal Disorders and Short Stature
NCT02762318	Not specified	TERMINATED	Identification and Characterization of Bone-related Genetic Variants in Families
NCT03548779	Not specified	COMPLETED	North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
NCT05247645	Not specified	RECRUITING	Data Collection of Patients With Rare Bone Diseases
NCT05876416	Not specified	RECRUITING	Decoding the Genetic Landscape of Skeletal Diseases
NCT05991609	Not specified	ACTIVE_NOT_RECRUITING	Extreme Morphology and Metabolic Health
NCT06002373	Not specified	UNKNOWN	Assessment of Artificial Intelligence for Treatment Decision Recommendation of Adult Skeletal Class III Patients