ZNF687

Summary

ZNF687 (zinc finger protein 687, HGNC:29277) is a protein-coding gene on chromosome 1q21.3, encoding Zinc finger protein 687 (Q8N1G0). May be involved in transcriptional regulation. It is a selective cancer dependency (DepMap: 18.5% of cell lines).

This gene encodes C2H2 zinc finger protein. The encoded protein may play a role in bone differentiation and development. Mutations in this gene are the cause of Paget disease of bone-6. Alternate splicing results in multiple transcript variants.

Source: NCBI Gene 57592 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Paget disease of bone 6 (Strong, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 601 total — 1 pathogenic
• Phenotypes (HPO): 9
• Cancer dependency (DepMap): dependent in 18.5% of screened cell lines
• MANE Select transcript: NM_020832

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29277
Approved symbol	ZNF687
Name	zinc finger protein 687
Location	1q21.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1441
Ensembl gene	ENSG00000143373
Ensembl biotype	protein_coding
OMIM	610568
Entrez	57592

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 16 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000324048, ENST00000336715, ENST00000426871, ENST00000436614, ENST00000443959, ENST00000449313, ENST00000459919, ENST00000853018, ENST00000853020, ENST00000853022, ENST00000853023, ENST00000853024, ENST00000853025, ENST00000853026, ENST00000853027, ENST00000853028, ENST00000923908, ENST00000923909

RefSeq mRNA: 3 — MANE Select: NM_020832 NM_001304763, NM_001304764, NM_020832

CCDS: CCDS992

Canonical transcript exons

ENST00000336715 — 9 exons

Exon	Start	End
ENSE00000959649	151289095	151289271
ENSE00000959650	151289378	151289540
ENSE00001350923	151286275	151288406
ENSE00001904321	151282299	151282395
ENSE00003171380	151290715	151292176
ENSE00003515871	151288528	151288706
ENSE00003584768	151289678	151290007
ENSE00003628388	151290432	151290573
ENSE00003657693	151290122	151290234

Expression profiles

Bgee: expression breadth ubiquitous, 197 present calls, max score 95.34.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.3375 / max 127.0703, expressed in 1795 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
5221	11.0013	1781
5220	1.6007	828
5223	1.0940	536
5222	0.3815	177
201729	0.2599	131

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
kidney epithelium	UBERON:0004819	95.34	gold quality
cardiac muscle of right atrium	UBERON:0003379	91.46	silver quality
left ventricle myocardium	UBERON:0006566	90.39	silver quality
upper arm skin	UBERON:0004263	88.03	gold quality
cardia of stomach	UBERON:0001162	87.77	silver quality
granulocyte	CL:0000094	87.24	gold quality
epithelial cell of pancreas	CL:0000083	87.12	gold quality
ventricular zone	UBERON:0003053	86.48	gold quality
vena cava	UBERON:0004087	86.35	gold quality
bone marrow cell	CL:0002092	86.09	gold quality
ileal mucosa	UBERON:0000331	85.90	silver quality
ventral tegmental area	UBERON:0002691	84.99	silver quality
blood	UBERON:0000178	84.69	gold quality
nipple	UBERON:0002030	84.66	gold quality
subthalamic nucleus	UBERON:0001906	84.63	gold quality
trachea	UBERON:0003126	84.53	gold quality
leukocyte	CL:0000738	84.48	gold quality
apex of heart	UBERON:0002098	84.36	gold quality
monocyte	CL:0000576	84.35	gold quality
body of tongue	UBERON:0011876	84.29	gold quality
mucosa of transverse colon	UBERON:0004991	84.20	gold quality
inferior vagus X ganglion	UBERON:0005363	84.14	silver quality
lower esophagus mucosa	UBERON:0035834	84.14	gold quality
cerebellar vermis	UBERON:0004720	84.07	silver quality
dorsal plus ventral thalamus	UBERON:0001897	84.05	silver quality
ganglionic eminence	UBERON:0004023	83.87	gold quality
tongue	UBERON:0001723	83.80	silver quality
adenohypophysis	UBERON:0002196	83.68	gold quality
superior surface of tongue	UBERON:0007371	83.65	gold quality
pharyngeal mucosa	UBERON:0000355	83.53	silver quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-6058	no	70.25
E-ANND-3	no	3.06

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

49 targeting ZNF687, 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-126-5P	100.00	72.71	3180
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-7107-3P	99.93	66.73	627
HSA-MIR-6753-3P	99.93	66.57	637
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-4527	99.66	67.43	714
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-6503-5P	99.62	66.96	597
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-4437	99.52	65.29	1266
HSA-MIR-3147	99.52	66.34	388
HSA-MIR-12132	99.47	68.90	1341
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-569	99.42	66.32	1009

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 18.5% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 5)

• ZNF687 Expression increased in paget disease of bone Affected Individuals. (PMID:26849110)
• ZNF687-mutated patients showed a severe Paget’s disease of bone, with a remarkable number of affected sites (PMID:29493781)
• ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget’s Disease of Bone: Implications for Clinical Pathology. (PMID:32106343)
• Oncogenic zinc finger protein ZNF687 accelerates lung adenocarcinoma cell proliferation and tumor progression by activating the PI3K/AKT signaling pathway. (PMID:36944484)
• FTO-mediated ZNF687 accelerates tumor growth, metastasis, and angiogenesis in colorectal cancer through the Wnt/beta-catenin pathway. (PMID:37983718)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	znf687b	ENSDARG00000019299
danio_rerio	znf687a	ENSDARG00000102774
mus_musculus	Zfp687	ENSMUSG00000019338
rattus_norvegicus	Zfp687	ENSRNOG00000021026

Paralogs (51): WIZ (ENSG00000011451), ZNF416 (ENSG00000083817), MYNN (ENSG00000085274), PRDM4 (ENSG00000110851), PRDM2 (ENSG00000116731), ZBTB17 (ENSG00000116809), ZNF644 (ENSG00000122482), GZF1 (ENSG00000125812), ZNF426 (ENSG00000130818), ZNF287 (ENSG00000141040), ZNF697 (ENSG00000143067), ZNF214 (ENSG00000149050), ZNF547 (ENSG00000152433), ZNF776 (ENSG00000152443), ZNF230 (ENSG00000159882), ZNF222 (ENSG00000159885), ZNF233 (ENSG00000159915), ZNF333 (ENSG00000160961), ZNF319 (ENSG00000166188), ZNF592 (ENSG00000166716), ZNF646 (ENSG00000167395), ZNF507 (ENSG00000168813), ZNF768 (ENSG00000169957), ZNF417 (ENSG00000173480), ZNF408 (ENSG00000175213), ZBTB41 (ENSG00000177888), ZNF223 (ENSG00000178386), ZNF852 (ENSG00000178917), ZNF784 (ENSG00000179922), ZNF572 (ENSG00000180938), ZNF707 (ENSG00000181135), ZNF746 (ENSG00000181220), ZNF467 (ENSG00000181444), ZNF530 (ENSG00000183647), ZNF17 (ENSG00000186272), ZNF527 (ENSG00000189164), ZKSCAN7 (ENSG00000196345), ZNF34 (ENSG00000196378), ZNF774 (ENSG00000196391), ZNF777 (ENSG00000196453)

Protein

Protein identifiers

Zinc finger protein 687 — Q8N1G0 (reviewed: Q8N1G0)

All UniProt accessions (5): Q8N1G0, A2A3Q2, A6PVV7, F8WCX2, H0Y5I5

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation.

Subunit / interactions. Interacts with ZMYND8.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Widely expressed with highest levels in obvary, muscle, blood and lung.

Disease relevance. Paget disease of bone 6 (PDB6) [MIM:616833] An autosomal dominant form of Paget disease, a disorder of bone remodeling characterized by increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Osteoclastic overactivity followed by compensatory osteoblastic activity leads to a structurally disorganized mosaic of bone (woven bone), which is mechanically weaker, larger, less compact, more vascular, and more susceptible to fracture than normal adult lamellar bone. PDB6 is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton. In some cases, the pagetic tissue undergoes neoplastic transformation, resulting in osteosarcoma and, less frequently, in giant cell tumor of bone. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8N1G0-1	1	yes
Q8N1G0-2	2

RefSeq proteins (3): NP_001291692, NP_001291693, NP_065883* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR041697	Znf-C2H2_11	Domain
IPR045914	Zn532-like	Family
IPR057356	Znf-C2H2_ZNF592	Domain

Pfam: PF00096, PF16622, PF25412

UniProt features (70 total): modified residue 26, cross-link 12, zinc finger region 10, compositionally biased region 6, region of interest 5, sequence variant 4, sequence conflict 4, splice variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N1G0-F1	53.34	0.00

Functional residue map

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

Post-translational modifications (38): 102, 129, 140, 148, 227, 242, 251, 253, 266, 271, 374, 377, 433, 495, 900, 1057, 1060, 1082, 1083, 1085 …

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9940951	Interaction of NuRD complexes with transcription factors

MSigDB gene sets: 170 (showing top): E2F_Q4, E2F_Q4_01, E2F4DP1_01, RORA1_01, MAZ_Q6, TGACCTY_ERR1_Q2, AAAYRNCTG_UNKNOWN, SP1_Q2_01, CREB_Q4, GTGCCTT_MIR506, E2F1DP1_01, E2F1DP2_01, NF1_Q6_01, E4F1_Q6, CREB_Q2_01

GO Biological Process (1): regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (5): DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (4): nucleoplasm (GO:0005654), cytosol (GO:0005829), nucleus (GO:0005634), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
NuRD complex assembly	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
nucleic acid binding	1
transcription cis-regulatory region binding	1
regulation of DNA-templated transcription	1
transcription regulator activity	1
transition metal ion binding	1
binding	1
cation binding	1
nuclear lumen	1
cytoplasm	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1141 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF687	ZMYND8	Q9ULU4	870
ZNF687	ZNF592	Q92610	749
ZNF687	SH3D19	Q5HYK7	745
ZNF687	YTHDF2	Q9Y5A9	667
ZNF687	RUNX1	Q01196	579
ZNF687	HMGB2	P26583	549
ZNF687	CBFA2T3	O75081	527
ZNF687	ZNF536	O15090	526
ZNF687	CDK2AP1	O14519	518
ZNF687	ZFPM2	Q8WW38	518
ZNF687	CCNT1	O60563	500
ZNF687	MECOM	Q03112	495
ZNF687	CBFB	Q13951	492
ZNF687	TNFRSF11A	Q9Y6Q6	483
ZNF687	RBBP7	Q16576	476

IntAct

108 interactions, top by confidence:

A	B	Type	Score
LLGL2	PRKCI	psi-mi:“MI:0914”(association)	0.890
CSNK2A1	EIF3J	psi-mi:“MI:0914”(association)	0.810
CSNK2A2	EIF3J	psi-mi:“MI:0914”(association)	0.790
MED23	MED19	psi-mi:“MI:2364”(proximity)	0.770
MBD3	CDK2AP1	psi-mi:“MI:0914”(association)	0.730
ZNF687	TSPYL2	psi-mi:“MI:0915”(physical association)	0.670
CSNK2B	RPS6KA5	psi-mi:“MI:0914”(association)	0.660
CSNK2B	NMT2	psi-mi:“MI:0914”(association)	0.660
P4HA3	FAM171A2	psi-mi:“MI:0914”(association)	0.640
CSNK2B	RPS6KA4	psi-mi:“MI:0914”(association)	0.640
CSNK2A2	PES1	psi-mi:“MI:0914”(association)	0.640
ARIH1	SPOP	psi-mi:“MI:0914”(association)	0.530
TSPYL1	GPC3	psi-mi:“MI:0914”(association)	0.530
KCTD17	CBX4	psi-mi:“MI:0914”(association)	0.530
ZNF408	LRP4	psi-mi:“MI:0914”(association)	0.530
ABT1	ZNF316	psi-mi:“MI:0914”(association)	0.530
RPS3	ZNF316	psi-mi:“MI:0914”(association)	0.530
CDKN2A	ZNF687	psi-mi:“MI:0915”(physical association)	0.370
Tpx2	NFKBIE	psi-mi:“MI:0914”(association)	0.350
Tnks	SDC2	psi-mi:“MI:0914”(association)	0.350
KDM5C	CSNK2A1	psi-mi:“MI:0914”(association)	0.350
Srp72		psi-mi:“MI:0914”(association)	0.350
CDK2AP1	MTA3	psi-mi:“MI:0914”(association)	0.350
ZMYND8	MTA3	psi-mi:“MI:0914”(association)	0.350
ZNF687	DDX24	psi-mi:“MI:0914”(association)	0.350
Mta1	MTA3	psi-mi:“MI:0914”(association)	0.350

BioGRID (156): ZNF687 (Affinity Capture-MS), ZNF687 (Affinity Capture-MS), ZNF687 (Affinity Capture-MS), ZNF687 (Affinity Capture-MS), ZNF687 (Affinity Capture-MS), ZNF687 (Proximity Label-MS), CENPB (Affinity Capture-MS), ZNF592 (Affinity Capture-MS), PTGR1 (Affinity Capture-MS), ZMYND8 (Affinity Capture-MS), GATAD2A (Affinity Capture-MS), DDX24 (Affinity Capture-MS), ZNF687 (Affinity Capture-MS), ZNF687 (Affinity Capture-MS), ZNF687 (Affinity Capture-MS)

ESM2 similar proteins: A0JNJ4, A2APT9, A6NEL2, A6NP61, B1ASB6, B1WBS3, B2RXF5, F6WEQ6, O15015, O43918, O88282, O88286, O95785, P98168, P98169, Q2M3G4, Q2MHN3, Q2QGD7, Q3U1J1, Q3U381, Q497V6, Q5SW24, Q5SXM2, Q6YND2, Q6ZMQ8, Q6ZMY3, Q7TN08, Q7TSX9, Q80SU3, Q80YE4, Q811H0, Q8BG26, Q8BZW2, Q8C8V1, Q8IX07, Q8IY92, Q8N143, Q8N1G0, Q8NC74, Q8TBE0

Diamond homologs: A0A0R4IYX6, F6NSX9, Q6NXK2, Q8BHZ4, Q8N1G0, Q92610, Q9D2D7, Q9HCE3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 130 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Transcriptional regulation of brown and beige adipocyte differentiation by EBF2	6	24.8×	1e-05
Regulation of TP53 Activity through Acetylation	5	24.8×	8e-05
RNA Polymerase I Transcription Initiation	7	17.0×	1e-05
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)	10	15.9×	4e-07
Regulation of PTEN gene transcription	8	15.5×	4e-06
SPOP-mediated proteasomal degradation of PD-L1(CD274)	6	14.9×	1e-04
NuRD complex assembly	9	13.8×	3e-06
Interaction of NuRD complexes with transcription factors	9	12.4×	4e-06

GO biological processes:

GO term	Partners	Fold	FDR
regulation of stem cell differentiation	6	40.3×	1e-06
negative regulation of proteasomal ubiquitin-dependent protein catabolic process	5	17.6×	1e-03
chromatin remodeling	12	7.7×	1e-05
regulation of cell cycle	8	5.2×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	371
Likely benign	181
Benign	23

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
222988	NM_020832.3(ZNF687):c.725G>T (p.Ser242Ile)	Pathogenic

SpliceAI

1436 predictions. Top by Δscore:

Variant	Effect	Δscore
1:151282396:G:GG	donor_gain	1.0000
1:151286271:TCAGG:T	acceptor_loss	1.0000
1:151286272:CAG:C	acceptor_loss	1.0000
1:151288402:GCAAT:G	donor_gain	1.0000
1:151288404:AATG:A	donor_loss	1.0000
1:151288405:ATGTG:A	donor_loss	1.0000
1:151288406:TGTG:T	donor_loss	1.0000
1:151288407:G:GG	donor_gain	1.0000
1:151288407:G:T	donor_loss	1.0000
1:151288408:T:G	donor_loss	1.0000
1:151289272:G:GG	donor_gain	1.0000
1:151289375:CAGGC:C	acceptor_loss	1.0000
1:151289376:A:AG	acceptor_gain	1.0000
1:151289376:AGGCT:A	acceptor_gain	1.0000
1:151289377:G:GG	acceptor_gain	1.0000
1:151289377:GGCT:G	acceptor_gain	1.0000
1:151289377:GGCTG:G	acceptor_gain	1.0000
1:151289536:TCAAG:T	donor_loss	1.0000
1:151289538:AAGG:A	donor_loss	1.0000
1:151289539:AGGT:A	donor_loss	1.0000
1:151289541:GTAC:G	donor_loss	1.0000
1:151289675:CAGA:C	acceptor_loss	1.0000
1:151289676:A:AG	acceptor_gain	1.0000
1:151289676:AGA:A	acceptor_loss	1.0000
1:151289677:G:GG	acceptor_gain	1.0000
1:151289677:GA:G	acceptor_gain	1.0000
1:151289677:GAAC:G	acceptor_gain	1.0000
1:151289828:G:GT	donor_gain	1.0000
1:151289831:G:GT	donor_gain	1.0000
1:151289831:G:T	donor_gain	1.0000

AlphaMissense

8020 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:151286311:C:A	P7H	1.000
1:151286316:T:C	F9L	1.000
1:151286317:T:C	F9S	1.000
1:151286317:T:G	F9C	1.000
1:151286318:T:A	F9L	1.000
1:151286318:T:G	F9L	1.000
1:151286320:A:T	D10V	1.000
1:151286326:T:C	L12P	1.000
1:151286329:T:A	L13H	1.000
1:151286329:T:C	L13P	1.000
1:151286337:T:C	F16L	1.000
1:151286338:T:C	F16S	1.000
1:151286339:T:A	F16L	1.000
1:151286339:T:G	F16L	1.000
1:151287894:T:C	C535R	1.000
1:151287967:T:A	I559N	1.000
1:151287978:T:A	C563S	1.000
1:151287978:T:C	C563R	1.000
1:151287979:G:A	C563Y	1.000
1:151287979:G:C	C563S	1.000
1:151287979:G:T	C563F	1.000
1:151287980:C:G	C563W	1.000
1:151287987:T:C	C566R	1.000
1:151287988:G:A	C566Y	1.000
1:151287989:C:G	C566W	1.000
1:151288005:T:C	F572L	1.000
1:151288006:T:C	F572S	1.000
1:151288007:C:A	F572L	1.000
1:151288007:C:G	F572L	1.000
1:151288012:A:T	N574I	1.000

dbSNP variants (sampled 300 via entrez): RS1000179997 (1:151291335 TGAA>T), RS1000187800 (1:151287873 C>G,T), RS1000230908 (1:151291651 C>T), RS1000756378 (1:151282308 C>T), RS1000781289 (1:151281308 C>T), RS1000894009 (1:151281058 A>G), RS1001811337 (1:151282517 G>A), RS1001943773 (1:151282718 C>G), RS1002743003 (1:151281732 G>C), RS1002809459 (1:151283800 C>T), RS1002945280 (1:151284087 A>G), RS1002994376 (1:151292571 C>T), RS1003538790 (1:151288436 G>C), RS1003751499 (1:151282655 G>A,T), RS1004217185 (1:151282371 T>A)

Disease associations

OMIM: gene MIM:610568 | disease phenotypes: MIM:616833

GenCC curated gene-disease

Disease	Classification	Inheritance
Paget disease of bone 6	Strong	Autosomal dominant

Mondo (1): Paget disease of bone 6 (MONDO:0014792)

Orphanet (0):

HPO phenotypes

9 total (9 of 9 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000121	Nephrocalcinosis
HP:0001677	Coronary artery atherosclerosis
HP:0001712	Left ventricular hypertrophy
HP:0002653	Bone pain
HP:0002757	Recurrent fractures
HP:0002758	Osteoarthritis
HP:0003155	Elevated circulating alkaline phosphatase concentration
HP:0003581	Adult onset

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST005951_38	Body mass index	4.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	decreases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
FR900359	affects phosphorylation	1
TAK-243	decreases sumoylation	1
triphenyl phosphate	affects expression	1
beta-lapachone	decreases expression	1
manganese chloride	increases abundance, increases expression	1
coumarin	affects phosphorylation	1
nivalenol	increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
Acetaminophen	decreases expression	1
Vehicle Emissions	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Caffeine	affects phosphorylation	1
Diazinon	increases methylation	1
Doxorubicin	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Estradiol	affects expression	1
Lead	decreases expression	1
Manganese	increases abundance, increases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Urethane	increases expression	1
Palmitic Acid	increases phosphorylation	1
Acrylamide	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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