INPP5A

Summary

INPP5A (inositol polyphosphate-5-phosphatase A, HGNC:6076) is a protein-coding gene on chromosome 10q26.3, encoding Inositol polyphosphate-5-phosphatase A (Q14642). Phosphatase that specifically hydrolyzes the 5-phosphate of inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate, and inositol 1,3,4,5-tetrasphosphate to inositol 1,3,4-trisphosphate.

The protein encoded by this gene is a membrane-associated type I inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation.

Source: NCBI Gene 3632 — RefSeq curated summary.

At a glance

• GWAS associations: 15
• Clinical variants (ClinVar): 81 total
• Druggable target: yes
• MANE Select transcript: NM_005539

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6076
Approved symbol	INPP5A
Name	inositol polyphosphate-5-phosphatase A
Location	10q26.3
Locus type	gene with protein product
Status	Approved
Aliases	5PTASE
Ensembl gene	ENSG00000068383
Ensembl biotype	protein_coding
OMIM	600106
Entrez	3632

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 15 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000342652, ENST00000368593, ENST00000368594, ENST00000423490, ENST00000445580, ENST00000487614, ENST00000498337, ENST00000937707, ENST00000937708, ENST00000937709, ENST00000937710, ENST00000967855, ENST00000967856, ENST00000967857, ENST00000967858, ENST00000967859, ENST00000967860

RefSeq mRNA: 2 — MANE Select: NM_005539 NM_001321042, NM_005539

CCDS: CCDS7669

Canonical transcript exons

ENST00000368594 — 16 exons

Exon	Start	End
ENSE00001512527	132782037	132783480
ENSE00001864018	132537787	132538171
ENSE00002457301	132781861	132781948
ENSE00002470886	132780849	132780917
ENSE00002479571	132645868	132645968
ENSE00002480332	132650418	132650505
ENSE00002492935	132765773	132765846
ENSE00002526055	132607915	132607956
ENSE00003467863	132697816	132697919
ENSE00003470647	132726821	132726905
ENSE00003530268	132708313	132708365
ENSE00003583956	132749517	132749612
ENSE00003610705	132690392	132690455
ENSE00003628163	132749771	132749845
ENSE00003787064	132777671	132777782
ENSE00003788810	132710337	132710456

Expression profiles

Bgee: expression breadth ubiquitous, 291 present calls, max score 99.04.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.2749 / max 907.3634, expressed in 1804 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
107726	14.8956	1763
107727	11.3793	1749

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lateral nuclear group of thalamus	UBERON:0002736	99.04	gold quality
blood vessel layer	UBERON:0004797	98.00	gold quality
saphenous vein	UBERON:0007318	96.69	gold quality
left ventricle myocardium	UBERON:0006566	96.62	gold quality
middle temporal gyrus	UBERON:0002771	96.53	gold quality
popliteal artery	UBERON:0002250	96.45	gold quality
tibial artery	UBERON:0007610	96.45	gold quality
sperm	CL:0000019	96.38	gold quality
lateral globus pallidus	UBERON:0002476	96.25	gold quality
esophagus squamous epithelium	UBERON:0006920	96.23	gold quality
lower esophagus muscularis layer	UBERON:0035833	96.11	gold quality
lower esophagus	UBERON:0013473	96.07	gold quality
male germ cell	CL:0000015	96.05	gold quality
heart right ventricle	UBERON:0002080	96.01	gold quality
mucosa of stomach	UBERON:0001199	95.87	gold quality
myocardium	UBERON:0002349	95.82	gold quality
putamen	UBERON:0001874	95.78	gold quality
right coronary artery	UBERON:0001625	95.76	gold quality
Brodmann (1909) area 23	UBERON:0013554	95.71	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	95.69	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	95.68	gold quality
urethra	UBERON:0000057	95.63	gold quality
cardiac muscle of right atrium	UBERON:0003379	95.57	gold quality
aorta	UBERON:0000947	95.56	gold quality
epithelium of esophagus	UBERON:0001976	95.39	gold quality
endothelial cell	CL:0000115	95.17	gold quality
caudate nucleus	UBERON:0001873	95.13	gold quality
nucleus accumbens	UBERON:0001882	95.03	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.62	gold quality
lower lobe of lung	UBERON:0008949	94.55	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.69

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

101 targeting INPP5A, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488

Literature-anchored findings (GeneRIF, showing 2)

• NPP5Amay play a role in development and progression of cutaneous squamous cell carcinoma tumors (PMID:20876729)
• The ataxic phenotype and characteristics neurodegeneration of the Inpp5a Gt(OST50073)Lex mouse indicate a crucial role for Inpp5a in purkinje cells survival. (PMID:26051944)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
mus_musculus	Inpp5a	ENSMUSG00000025477
rattus_norvegicus	Inpp5a	ENSRNOG00000017635
drosophila_melanogaster	5PtaseI	FBGN0259178
caenorhabditis_elegans		WBGENE00002146
caenorhabditis_elegans		WBGENE00015278

Protein

Protein identifiers

Inositol polyphosphate-5-phosphatase A — Q14642 (reviewed: Q14642)

Alternative names: 43 kDa inositol polyphosphate 5-phosphatase, Type I inositol 1,4,5-trisphosphate 5-phosphatase

All UniProt accessions (5): Q14642, B1AP38, H0Y2W5, Q5T1B3, Q5T1B5

UniProt curated annotations — full annotation on UniProt →

Function. Phosphatase that specifically hydrolyzes the 5-phosphate of inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate, and inositol 1,3,4,5-tetrasphosphate to inositol 1,3,4-trisphosphate. Plays a crucial role in the survival of cerebellar Purkinje cells.

Subunit / interactions. Interacts with TASOR.

Subcellular location. Cell membrane. Cell projection. Dendrite.

Tissue specificity. Predominantly expressed in heart, brain, and skeletal muscle. In brain; high level in Purkinje cells.

Post-translational modifications. Isoprenylation at Cys-409 is required for localization at the membrane.

Similarity. Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type I family.

RefSeq proteins (2): NP_001307971, NP_005530* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000300	IPPc	Domain
IPR036691	Endo/exonu/phosph_ase_sf	Homologous_superfamily
IPR039737	INPP5A	Family

Pfam: PF22669

Enzyme classification (BRENDA):

• EC 3.1.3.56 — inositol-polyphosphate 5-phosphatase (BRENDA: 35 organisms, 62 substrates, 55 inhibitors, 44 Km, 15 kcat entries)

Substrate kinetics (BRENDA)

6 substrates with measured Km, best-characterized 6. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
D-MYO-INOSITOL 1,4,5-TRISPHOSPHATE	0.001–0.32	19
5-DIPHOSPHOINOSITOL 1,2,3,4,6-PENTAKISPHOSPHATE	0.007–0.0481	11
D-MYO-INOSITOL 1,3,4,5-TETRAKISPHOSPHATE	0.0008–0.019	7
1,5-BISDIPHOSPHOINOSITOL 2,3,4,6-TETRAKISPHOSPHA	0.0101	1
5-DIPHOSPHOINOSITOL 1,3,4,6-TETRAKISPHOSPHATE	0.0568	1
7-METHYL-6-THIOGUANOSINE	0.056	1

Catalyzed reactions (Rhea), 2 shown:

• 1D-myo-inositol 1,3,4,5-tetrakisphosphate + H2O = 1D-myo-inositol 1,3,4-trisphosphate + phosphate (RHEA:11392)
• 1D-myo-inositol 1,4,5-trisphosphate + H2O = 1D-myo-inositol 1,4-bisphosphate + phosphate (RHEA:19797)

UniProt features (8 total): mutagenesis site 2, sequence conflict 2, chain 1, propeptide 1, lipid moiety-binding region 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14642-F1	91.81	0.81

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 (1): 409

Mutagenesis-validated functional residues (2):

Position	Phenotype
408–412	loss of membrane localization. no loss of enzyme activity.
409	loss of prenylation and membrane localization. no loss of enzyme activity.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-1855183	Synthesis of IP2, IP, and Ins in the cytosol

MSigDB gene sets: 257 (showing top): GOBP_LIPID_MODIFICATION, AAGCAAT_MIR137, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_KRAS_DN, GOBP_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS, GOBP_REGULATION_OF_CALCIUM_MEDIATED_SIGNALING, ATACCTC_MIR202, GOBP_PHOSPHOLIPID_DEPHOSPHORYLATION, GOBP_INOSITOL_PHOSPHATE_METABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GOBP_POLYOL_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, ACTGCAG_MIR173P, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, FERREIRA_EWINGS_SARCOMA_UNSTABLE_VS_STABLE_DN

GO Biological Process (6): inositol phosphate metabolic process (GO:0043647), phosphatidylinositol dephosphorylation (GO:0046856), negative regulation of calcium-mediated signaling (GO:0050849), negative regulation of phospholipase C-activating G protein-coupled receptor signaling pathway (GO:1900737), phosphate-containing compound metabolic process (GO:0006796), organophosphate metabolic process (GO:0019637)

GO Molecular Function (7): inositol-polyphosphate 5-phosphatase activity (GO:0004445), PH domain binding (GO:0042731), inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658), inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659), protein binding (GO:0005515), hydrolase activity (GO:0016787), phosphatase activity (GO:0016791)

GO Cellular Component (4): plasma membrane (GO:0005886), membrane (GO:0016020), dendrite (GO:0030425), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Inositol phosphate metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
inositol-polyphosphate 5-phosphatase activity	2
cellular anatomical structure	2
organophosphate metabolic process	1
polyol metabolic process	1
phosphatidylinositol metabolic process	1
phospholipid dephosphorylation	1
calcium-mediated signaling	1
regulation of calcium-mediated signaling	1
negative regulation of intracellular signal transduction	1
phospholipase C-activating G protein-coupled receptor signaling pathway	1
negative regulation of G protein-coupled receptor signaling pathway	1
regulation of phospholipase C-activating G protein-coupled receptor signaling pathway	1
metabolic process	1
phosphorus metabolic process	1
inositol trisphosphate phosphatase activity	1
protein domain specific binding	1
inositol tetrakisphosphate phosphatase activity	1
binding	1
catalytic activity	1
phosphoric ester hydrolase activity	1
membrane	1
cell periphery	1
neuron projection	1
dendritic tree	1

Protein interactions and networks

STRING

1057 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
INPP5A	INPP5J	Q15735	912
INPP5A	INPP5B	P32019	867
INPP5A	FHL3	Q13643	769
INPP5A	FHL1	Q13642	762
INPP5A	INPP5D	Q92835	679
INPP5A	OCRL	Q01968	670
INPP5A	GARNL3	Q5VVW2	616
INPP5A	INPP5E	Q9NRR6	593
INPP5A	INPP5K	Q9BT40	582
INPP5A	RGS8	P57771	576
INPP5A	ITPKA	P23677	519
INPP5A	SYNJ2	O15056	515
INPP5A	INPPL1	O15357	514
INPP5A	FHL2	Q14192	492
INPP5A	ITPKB	P27987	489

IntAct

35 interactions, top by confidence:

A	B	Type	Score
MED21	MED19	psi-mi:“MI:0914”(association)	0.880
RABGGTB	YKT6	psi-mi:“MI:0914”(association)	0.740
PRPS2	PRPSAP2	psi-mi:“MI:0914”(association)	0.670
PLEK	INPP5A	psi-mi:“MI:0407”(direct interaction)	0.630
PLEK	INPP5A	psi-mi:“MI:0914”(association)	0.630
INPP5A	PLEK	psi-mi:“MI:0914”(association)	0.630
INPP5A	TEAD2	psi-mi:“MI:0915”(physical association)	0.560
RABGGTB	PIPSL	psi-mi:“MI:0914”(association)	0.530
INPP5A	RCCD1	psi-mi:“MI:0914”(association)	0.530
SLC25A41	NUDT19	psi-mi:“MI:0914”(association)	0.530
TTR	INPP5A	psi-mi:“MI:0915”(physical association)	0.500
INPP5A	H1-1	psi-mi:“MI:0915”(physical association)	0.400
INPP5A	H1-4	psi-mi:“MI:0915”(physical association)	0.400
INPP5A	DHX9	psi-mi:“MI:0915”(physical association)	0.400
PLEKHA7	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MED21	MED19	psi-mi:“MI:0914”(association)	0.350
DUSP22	POTEF	psi-mi:“MI:0914”(association)	0.350
ISOC2	MPP2	psi-mi:“MI:0914”(association)	0.350
SLC25A41	VPS37C	psi-mi:“MI:0914”(association)	0.350
CERS2	VPS37C	psi-mi:“MI:0914”(association)	0.350
MAGEA3	PALM3	psi-mi:“MI:0914”(association)	0.350
ISOC2	GTPBP1	psi-mi:“MI:0914”(association)	0.350
CENPM	DNM1L	psi-mi:“MI:0914”(association)	0.350
TTR	ATG7	psi-mi:“MI:0914”(association)	0.350
PSG3	PSG1	psi-mi:“MI:0914”(association)	0.350

BioGRID (48): INPP5A (Affinity Capture-MS), TTC1 (Affinity Capture-MS), RCCD1 (Affinity Capture-MS), ZG16B (Affinity Capture-MS), ITFG2 (Affinity Capture-MS), IGHA1 (Affinity Capture-MS), INPP5A (Affinity Capture-MS), ITFG2 (Affinity Capture-MS), RCCD1 (Affinity Capture-MS), INPP5A (Affinity Capture-MS), INPP5A (Affinity Capture-MS), IGHA1 (Affinity Capture-MS), INPP5A (Affinity Capture-MS), INPP5A (Affinity Capture-MS), INPP5A (Affinity Capture-MS)

ESM2 similar proteins: A0JN27, A0PJN4, A1L167, A7MB76, A7YWS7, D3K5L7, D3ZZX1, E2R222, O89050, P22234, P51583, P52848, P56282, P97834, Q02353, Q12800, Q13042, Q14642, Q15645, Q29467, Q2YDL1, Q3UA06, Q3UHN9, Q5F450, Q5M887, Q5RB35, Q5RB59, Q5RBN9, Q5RCG0, Q5VU57, Q5XHZ9, Q5ZKQ6, Q6GR10, Q6NRQ7, Q6UXG2, Q7SXR3, Q7T2U9, Q7TNC9, Q86TJ2, Q8NFX7

Diamond homologs: D3ZZX1, Q14642, Q17848, Q29467, Q7TNC9, Q9VTW2, G5ECL2, P32019, Q84W55, Q8K337, Q9SYK4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	53
Likely benign	3
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

6860 predictions. Top by Δscore:

Variant	Effect	Δscore
10:132538172:G:GG	donor_gain	1.0000
10:132539851:GC:G	donor_gain	1.0000
10:132607906:A:AG	acceptor_gain	1.0000
10:132607907:A:G	acceptor_gain	1.0000
10:132607913:A:AG	acceptor_gain	1.0000
10:132607914:G:GA	acceptor_gain	1.0000
10:132607914:GCCA:G	acceptor_gain	1.0000
10:132607954:CAGGT:C	donor_loss	1.0000
10:132607955:AGGTA:A	donor_loss	1.0000
10:132607957:G:GA	donor_loss	1.0000
10:132607958:T:A	donor_loss	1.0000
10:132645862:CTCCA:C	acceptor_loss	1.0000
10:132645864:CCAG:C	acceptor_loss	1.0000
10:132645865:CAG:C	acceptor_loss	1.0000
10:132645866:A:AG	acceptor_gain	1.0000
10:132645866:A:T	acceptor_loss	1.0000
10:132645866:AGGTC:A	acceptor_gain	1.0000
10:132645867:G:GT	acceptor_gain	1.0000
10:132645867:GGT:G	acceptor_gain	1.0000
10:132645867:GGTC:G	acceptor_gain	1.0000
10:132645867:GGTCG:G	acceptor_gain	1.0000
10:132645964:GTCAA:G	donor_gain	1.0000
10:132645969:G:GG	donor_gain	1.0000
10:132697814:A:AG	acceptor_gain	1.0000
10:132697815:G:GG	acceptor_gain	1.0000
10:132697918:AGGT:A	donor_loss	1.0000
10:132697920:G:C	donor_loss	1.0000
10:132697921:T:A	donor_loss	1.0000
10:132710328:T:A	acceptor_gain	1.0000
10:132710336:GT:G	acceptor_gain	1.0000

AlphaMissense

2744 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:132538150:C:A	N18K	1.000
10:132538150:C:G	N18K	1.000
10:132607936:T:A	W33R	1.000
10:132607936:T:C	W33R	1.000
10:132645912:G:C	Q54H	1.000
10:132645912:G:T	Q54H	1.000
10:132645914:A:T	E55V	1.000
10:132650500:T:C	F101L	1.000
10:132650502:C:A	F101L	1.000
10:132650502:C:G	F101L	1.000
10:132690399:G:A	G105E	1.000
10:132697897:T:C	F151S	1.000
10:132708326:G:C	R163T	1.000
10:132708326:G:T	R163I	1.000
10:132708327:A:C	R163S	1.000
10:132708327:A:T	R163S	1.000
10:132708328:A:C	K164Q	1.000
10:132708329:A:T	K164I	1.000
10:132708330:A:C	K164N	1.000
10:132708330:A:T	K164N	1.000
10:132708331:G:C	G165R	1.000
10:132708331:G:T	G165C	1.000
10:132708332:G:A	G165D	1.000
10:132708349:T:A	W171R	1.000
10:132708349:T:C	W171R	1.000
10:132710355:T:A	N182K	1.000
10:132710355:T:G	N182K	1.000
10:132710359:C:G	H184D	1.000
10:132710363:T:C	L185P	1.000
10:132710368:C:G	H187D	1.000

dbSNP variants (sampled 300 via entrez): RS1000016706 (10:132714215 C>G), RS1000017382 (10:132753395 C>T), RS1000027909 (10:132721811 T>C), RS1000033825 (10:132777135 G>T), RS1000035554 (10:132735773 A>C), RS1000057390 (10:132616276 A>C,G), RS1000061030 (10:132776046 T>C), RS1000061069 (10:132541262 G>A,C), RS1000075413 (10:132746477 G>A), RS1000078243 (10:132617176 G>T), RS1000085817 (10:132777340 T>C), RS1000097981 (10:132722805 T>C), RS1000108579 (10:132612261 A>C), RS1000108920 (10:132646023 C>A,T), RS1000115435 (10:132574574 A>G)

Disease associations

OMIM: gene MIM:600106 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

15 associations (top):

Study	Trait	p-value
GCST003986_17	Migraine	2.000000e-08
GCST004030_17	Primary sclerosing cholangitis	1.000000e-08
GCST004110_19	Gait speed in old age	3.000000e-06
GCST006288_113	Heel bone mineral density	1.000000e-07
GCST006288_27	Heel bone mineral density	2.000000e-17
GCST006288_724	Heel bone mineral density	1.000000e-11
GCST006613_103	Triglycerides	2.000000e-08
GCST006624_121	Systolic blood pressure	7.000000e-18
GCST006979_616	Heel bone mineral density	1.000000e-43
GCST007267_1	Systolic blood pressure	1.000000e-13
GCST007269_115	Pulse pressure	6.000000e-11
GCST009363_58	Triglyceride levels x short total sleep time interaction (2df test)	6.000000e-10
GCST010244_119	Triglyceride levels	1.000000e-08
GCST012490_408	Femur bone mineral density x serum urate levels interaction	2.000000e-08
GCST012490_530	Femur bone mineral density x serum urate levels interaction	3.000000e-09

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0009270	heel bone mineral density
EFO:0004530	triglyceride measurement
EFO:0006335	systolic blood pressure
EFO:0005763	pulse pressure measurement
EFO:0004531	urate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4243 (SINGLE PROTEIN)

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — Inositol polyphosphate phosphatases

Most potent curated ligand interactions (1 total), top 1:

Ligand	Action	Affinity	Parameter
compound 5 [Noble et al., 1992]	Inhibition	5.89	pKi

ChEMBL bioactivities

3 potent at pChembl≥5 of 13 total, top 3 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.89	Ki	1300	nM	CHEMBL1161242
5.41	Ki	3900	nM	CHEMBL2092837
5.40	IC50	4000	nM	CHEMBL4538474

PubChem BioAssay actives

2 with measured affinity, of 15 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
[(1R,3R)-3,4-bis(sulfomethyl)cyclohexyl]methanesulfonic acid	7213: Tested for inhibition of 5-phosphatase isolated from human erythrocyte membrane	ki	3.9000	uM
(2,4,5-triphosphonooxyphenyl) dihydrogen phosphate	1547662: Inhibition of recombinant human brain INPP5A expressed in Escherichia coli incubated for 10 mins by malachite green reagent based phosphate assay	ic50	4.0000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation, increases methylation	6
Aflatoxin B1	decreases expression, increases methylation, affects expression	4
Tobacco Smoke Pollution	affects expression, decreases methylation, increases expression	3
bisphenol A	affects methylation, affects cotreatment, increases methylation, decreases expression	2
Arsenic	affects methylation, affects response to substance	2
Cisplatin	affects cotreatment, decreases expression	2
Valproic Acid	increases expression, increases methylation	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
geldanamycin	increases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	affects expression	1
beta-lapachone	decreases expression	1
arsenite	increases methylation	1
mono-(2-ethylhexyl)phthalate	increases methylation, increases abundance	1
benzo(e)pyrene	affects methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
aflatoxin B2	decreases methylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
benzene 1,2,4-trisphosphate	decreases reaction, increases metabolic processing, decreases activity	1
ICG 001	decreases expression	1
bisphenol S	decreases methylation	1
jinfukang	affects cotreatment, decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	decreases expression	1
Air Pollutants	affects expression, increases abundance	1

ChEMBL screening assays

6 unique, capped per target: 6 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4345052	Binding	Inhibition of recombinant human brain INPP5A expressed in Escherichia coli incubated for 10 mins by malachite green reagent based phosphate assay	Regioisomeric Family of Novel Fluorescent Substrates for SHIP2. — ACS Med Chem Lett

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_SS67	HAP1 INPP5A (-) 1	Cancer cell line	Male
CVCL_XP81	HAP1 INPP5A (-) 2	Cancer cell line	Male
CVCL_XP82	HAP1 INPP5A (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

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