INPP5J

Summary

INPP5J (inositol polyphosphate-5-phosphatase J, HGNC:8956) is a protein-coding gene on chromosome 22q12.2, encoding Phosphatidylinositol 4,5-bisphosphate 5-phosphatase A (Q15735). Inositol 5-phosphatase, which converts inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate.

Predicted to enable inositol trisphosphate phosphatase activity; phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity; and phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. Predicted to be involved in negative regulation of microtubule polymerization. Predicted to act upstream of or within negative regulation of neuron projection development and negative regulation of peptidyl-serine phosphorylation. Located in cytoplasm and ruffle.

Source: NCBI Gene 27124 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 140 total
• MANE Select transcript: NM_001284285

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8956
Approved symbol	INPP5J
Name	inositol polyphosphate-5-phosphatase J
Location	22q12.2
Locus type	gene with protein product
Status	Approved
Aliases	INPP5, PIPP
Ensembl gene	ENSG00000185133
Ensembl biotype	protein_coding
OMIM	606481
Entrez	27124

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 6 nonsense_mediated_decay, 5 protein_coding, 1 retained_intron

ENST00000331075, ENST00000400294, ENST00000401755, ENST00000402238, ENST00000404390, ENST00000404453, ENST00000405300, ENST00000412985, ENST00000420017, ENST00000461241, ENST00000463528, ENST00000715268

RefSeq mRNA: 18 — MANE Select: NM_001284285 NM_001002837, NM_001284285, NM_001284286, NM_001284287, NM_001284288, NM_001284289, NM_001423472, NM_001423473, NM_001423474, NM_001423475, NM_001423476, NM_001423477, NM_001423478, NM_001423479, NM_001423480, NM_001423481, NM_001423482, NM_001423483

CCDS: CCDS46687, CCDS63453

Canonical transcript exons

ENST00000331075 — 13 exons

Exon	Start	End
ENSE00001318706	31133610	31133714
ENSE00001330355	31133406	31133483
ENSE00001678462	31126613	31126721
ENSE00001757387	31127357	31127532
ENSE00003506854	31126376	31126489
ENSE00003548844	31133098	31133235
ENSE00003552315	31128471	31128654
ENSE00003612272	31127951	31128062
ENSE00003619647	31128214	31128323
ENSE00003665853	31124845	31126010
ENSE00003673626	31122966	31123119
ENSE00003784082	31126921	31127037
ENSE00003849658	31133913	31134697

Expression profiles

Bgee: expression breadth ubiquitous, 173 present calls, max score 99.15.

FANTOM5 (CAGE): breadth broad, TPM avg 3.2490 / max 227.6836, expressed in 761 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
191761	2.9733	718
191766	0.1695	71
191758	0.0527	10
191760	0.0196	6
191756	0.0157	8
191757	0.0143	7
191759	0.0038	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of thyroid gland	UBERON:0001119	99.15	gold quality
left lobe of thyroid gland	UBERON:0001120	98.94	gold quality
thyroid gland	UBERON:0002046	98.62	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.62	gold quality
cerebellar hemisphere	UBERON:0002245	94.99	gold quality
cerebellar cortex	UBERON:0002129	94.85	gold quality
mucosa of transverse colon	UBERON:0004991	93.37	gold quality
cerebellum	UBERON:0002037	93.13	gold quality
parotid gland	UBERON:0001831	92.86	gold quality
metanephros cortex	UBERON:0010533	90.60	gold quality
apex of heart	UBERON:0002098	90.37	gold quality
right atrium auricular region	UBERON:0006631	89.73	gold quality
cardiac atrium	UBERON:0002081	88.47	gold quality
small intestine Peyer’s patch	UBERON:0003454	86.25	gold quality
heart left ventricle	UBERON:0002084	84.80	gold quality
small intestine	UBERON:0002108	84.76	gold quality
cardiac ventricle	UBERON:0002082	84.42	gold quality
duodenum	UBERON:0002114	84.38	gold quality
body of pancreas	UBERON:0001150	83.78	gold quality
ileal mucosa	UBERON:0000331	83.72	gold quality
right frontal lobe	UBERON:0002810	83.72	gold quality
transverse colon	UBERON:0001157	83.03	gold quality
body of stomach	UBERON:0001161	82.79	gold quality
adult mammalian kidney	UBERON:0000082	82.39	gold quality
heart	UBERON:0000948	82.24	gold quality
saliva-secreting gland	UBERON:0001044	82.08	gold quality
prefrontal cortex	UBERON:0000451	81.59	gold quality
hindlimb stylopod muscle	UBERON:0004252	80.96	gold quality
cingulate cortex	UBERON:0003027	80.82	gold quality
anterior cingulate cortex	UBERON:0009835	80.70	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.01

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SP1

miRNA regulators (miRDB)

30 targeting INPP5J, 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-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-6744-5P	99.93	66.82	748
HSA-MIR-219A-5P	99.91	73.36	735
HSA-MIR-4782-3P	99.88	73.31	735
HSA-MIR-6766-3P	99.88	73.38	732
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-12122	99.56	69.33	1672
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-7854-3P	99.08	66.26	1117
HSA-MIR-508-3P	98.66	69.62	887
HSA-MIR-3135B	98.61	65.33	1470
HSA-MIR-6511A-5P	98.13	67.47	1770
HSA-MIR-1302	97.92	67.27	844
HSA-MIR-4445-5P	97.21	66.16	832
HSA-MIR-4327	97.21	67.71	676
HSA-MIR-6857-3P	96.70	65.43	915
HSA-MIR-3169	96.40	67.58	698
HSA-MIR-4740-5P	96.25	67.96	726
HSA-MIR-6821-3P	95.21	66.79	578
HSA-MIR-6790-3P	88.15	62.55	113

Literature-anchored findings (GeneRIF, showing 4)

• these results establish the tumour suppressive role of phosphatidylinositol 4,5-bisphosphate 5-phosphatase and reveal mechanisms involved in its downregulation in melanoma. (PMID:23443536)
• miR-508 has a role in sustaining phosphoinositide signalling and promotes aggressive phenotype of oesophageal squamous cell carcinoma by suppressing INPP5J (PMID:25099196)
• Findings indicate inositol polyphosphate 5-phosphatase PIPP (INPP5J) as a suppressor of oncogenic phosphoinositide 3-kinase (PI3K)/AKT signaling in breast cancer. (PMID:26267533)
• Suggest miR-661 functions as a tumor promoter by targeting the INPP5J gene, and then promoting cell proliferation of ovarian cancer cells. (PMID:26282217)

Cross-species orthologs

10 orthologs

Organism	Symbol	Gene ID
danio_rerio	inpp5ja	ENSDARG00000078542
danio_rerio	inpp5jb	ENSDARG00000093359
mus_musculus	Inpp5j	ENSMUSG00000034570
rattus_norvegicus	Inpp5j	ENSRNOG00000019361
drosophila_melanogaster	CG9784	FBGN0030761
drosophila_melanogaster	CG6805	FBGN0034179
drosophila_melanogaster	Synj	FBGN0034691
drosophila_melanogaster	sp3	FBGN0038890
caenorhabditis_elegans		WBGENE00006763
caenorhabditis_elegans	sac-2	WBGENE00012353

Paralogs (13): SYNJ2 (ENSG00000078269), FIG4 (ENSG00000112367), OCRL (ENSG00000122126), INPP5K (ENSG00000132376), INPP5E (ENSG00000148384), SYNJ1 (ENSG00000159082), INPPL1 (ENSG00000165458), INPP5D (ENSG00000168918), SH2D1A (ENSG00000183918), SH2D1B (ENSG00000198574), INPP5F (ENSG00000198825), INPP5B (ENSG00000204084), SACM1L (ENSG00000211456)

Protein

Protein identifiers

Phosphatidylinositol 4,5-bisphosphate 5-phosphatase A — Q15735 (reviewed: Q15735)

Alternative names: Inositol polyphosphate 5-phosphatase J, Phosphatidylinositol 1,3,4,5-tetrakisphosphate 5-phosphatase, Phosphatidylinositol 1,4,5-trisphosphate 5-phosphatase

All UniProt accessions (8): A0AAQ5BIH3, Q15735, A0AAQ5BIH4, A0AAZ3TA57, B5MBZ3, B5MCL8, C9J0H5, C9K0M5

UniProt curated annotations — full annotation on UniProt →

Function. Inositol 5-phosphatase, which converts inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate. Also converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate and inositol 1,3,4,5-tetrakisphosphate to inositol 1,3,4-trisphosphate in vitro. May be involved in modulation of the function of inositol and phosphatidylinositol polyphosphate-binding proteins that are present at membranes ruffles.

Subcellular location. Cytoplasm.

Domain organisation. The 5 Arg-Ser-Xaa-Ser-Xaa-Xaa (RSXSXX) motifs may constitute binding sites for the 14-3-3 protein.

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

Isoforms (3)

UniProt ID	Names	Canonical?
Q15735-1	1	yes
Q15735-2	2
Q15735-3	3

RefSeq proteins (18): NP_001002837, NP_001271214, NP_001271215, NP_001271216, NP_001271217, NP_001271218, NP_001410401, NP_001410402, NP_001410403, NP_001410404, NP_001410405, NP_001410406, NP_001410407, NP_001410408, NP_001410409, NP_001410410, NP_001410411, NP_001410412 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000300	IPPc	Domain
IPR036691	Endo/exonu/phosph_ase_sf	Homologous_superfamily
IPR041611	SKICH	Domain
IPR046985	IP5	Family

Pfam: PF17751, 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), 3 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)
• a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate) + phosphate (RHEA:22764)

UniProt features (38 total): compositionally biased region 11, modified residue 10, short sequence motif 6, region of interest 4, sequence conflict 3, splice variant 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q15735-F1	61.20	0.37

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 (10): 56, 56, 65, 76, 83, 83, 291, 324, 903, 990

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-1660499	Synthesis of PIPs at the plasma membrane
R-HSA-1855183	Synthesis of IP2, IP, and Ins in the cytosol
R-HSA-1855204	Synthesis of IP3 and IP4 in the cytosol

MSigDB gene sets: 153 (showing top): GOBP_LIPID_MODIFICATION, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, YANG_BREAST_CANCER_ESR1_BULK_UP, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_PHOSPHOLIPID_DEPHOSPHORYLATION, GOBP_INOSITOL_PHOSPHATE_METABOLIC_PROCESS, GOBP_POLYOL_METABOLIC_PROCESS, GOBP_NEUROGENESIS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOCC_RUFFLE

GO Biological Process (7): phosphatidylinositol biosynthetic process (GO:0006661), negative regulation of neuron projection development (GO:0010977), negative regulation of microtubule polymerization (GO:0031115), inositol phosphate metabolic process (GO:0043647), phosphatidylinositol dephosphorylation (GO:0046856), phospholipid metabolic process (GO:0006644), glycerolipid metabolic process (GO:0046486)

GO Molecular Function (10): phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439), SH3 domain binding (GO:0017124), phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485), inositol trisphosphate phosphatase activity (GO:0046030), inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658), inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659), inositol-polyphosphate 5-phosphatase activity (GO:0004445), protein binding (GO:0005515), hydrolase activity (GO:0016787), phosphatase activity (GO:0016791)

GO Cellular Component (8): ruffle (GO:0001726), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), growth cone (GO:0030426), neuron projection (GO:0043005), dendritic shaft (GO:0043198), plasma membrane bounded cell projection (GO:0120025)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Inositol phosphate metabolism	2
PI Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
phosphatidylinositol metabolic process	2
organophosphate metabolic process	2
lipid metabolic process	2
phosphatidylinositol phosphate 5-phosphatase activity	2
inositol-polyphosphate 5-phosphatase activity	2
plasma membrane bounded cell projection	2
biosynthetic process	1
regulation of neuron projection development	1
neuron projection development	1
negative regulation of cell projection organization	1
negative regulation of microtubule polymerization or depolymerization	1
regulation of microtubule polymerization	1
negative regulation of protein polymerization	1
microtubule polymerization	1
negative regulation of supramolecular fiber organization	1
polyol metabolic process	1
phospholipid dephosphorylation	1
phosphatidylinositol-4,5-bisphosphate phosphatase activity	1
protein domain specific binding	1
phosphatidylinositol trisphosphate phosphatase activity	1
inositol phosphate phosphatase activity	1
inositol tetrakisphosphate phosphatase activity	1
inositol trisphosphate phosphatase activity	1
binding	1
catalytic activity	1
phosphoric ester hydrolase activity	1
cell leading edge	1
intracellular anatomical structure	1
cytoplasm	1
membrane	1
cell periphery	1
site of polarized growth	1
distal axon	1
dendrite	1
cell projection	1
plasma membrane region	1

Protein interactions and networks

STRING

1000 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
INPP5J	INPP5A	Q14642	912
INPP5J	PRR5	P85299	716
INPP5J	INPP4A	Q96PE3	612
INPP5J	YWHAH	Q04917	585
INPP5J	INPP4B	O15327	584
INPP5J	INPP1	P49441	538
INPP5J	TMEM132C	Q8N3T6	489
INPP5J	PLA2G3	Q9NZ20	447
INPP5J	LRRC38	Q5VT99	444
INPP5J	SHC1	P29353	402
INPP5J	INPP5B	P32019	386
INPP5J	ARL15	Q9NXU5	385
INPP5J	CNTN3	Q9P232	383
INPP5J	INPP5D	Q92835	379
INPP5J	FAM117A	Q9C073	375

IntAct

65 interactions, top by confidence:

A	B	Type	Score
GOLGA2	INPP5J	psi-mi:“MI:0915”(physical association)	0.720
INPP5J	TRIM54	psi-mi:“MI:0915”(physical association)	0.720
INPP5J	TRIM27	psi-mi:“MI:0915”(physical association)	0.560
EPS8	INPP5J	psi-mi:“MI:0915”(physical association)	0.560
DNAJA3	INPP5J	psi-mi:“MI:0915”(physical association)	0.560
INPP5J	CDC23	psi-mi:“MI:0915”(physical association)	0.560
TRIM27	INPP5J	psi-mi:“MI:0915”(physical association)	0.560
CDC23	INPP5J	psi-mi:“MI:0915”(physical association)	0.560
PSME3	INPP5J	psi-mi:“MI:0915”(physical association)	0.560
INPP5J	MEOX2	psi-mi:“MI:0915”(physical association)	0.560
TLE5	INPP5J	psi-mi:“MI:0915”(physical association)	0.560
FXR2	INPP5J	psi-mi:“MI:0915”(physical association)	0.560
MEOX1	INPP5J	psi-mi:“MI:0915”(physical association)	0.560
INPP5J	EFHC2	psi-mi:“MI:0915”(physical association)	0.560
INPP5J	RINT1	psi-mi:“MI:0915”(physical association)	0.560
HSF2BP	INPP5J	psi-mi:“MI:0915”(physical association)	0.560
INPP5J	CEP70	psi-mi:“MI:0915”(physical association)	0.560
INPP5J	PICK1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (21): INPP5J (Two-hybrid), INPP5J (Two-hybrid), INPP5J (Two-hybrid), INPP5J (Two-hybrid), INPP5J (Two-hybrid), TRIM54 (Two-hybrid), INPP5J (Two-hybrid), INPP5J (Two-hybrid), INPP5J (Two-hybrid), INPP5J (Two-hybrid), INPP5J (Two-hybrid), INPP5J (Two-hybrid), INPP5J (Two-hybrid), INPP5J (Two-hybrid), INPP5J (Two-hybrid)

ESM2 similar proteins: A0A0J9YX94, A0A0J9YXQ4, A0A0J9YY54, A0A494C1R9, A5D7L8, A6NDY0, A6NKD2, A7E321, E9PGG2, F6SZT2, O14771, O19110, O75807, O88852, P0CV98, P0CV99, P0CW00, P0CW01, P0CW24, P17564, P78358, Q01534, Q0P5N2, Q15735, Q2KI51, Q2M329, Q587J8, Q5DTT8, Q5R5G8, Q5R6R8, Q5SV97, Q60465, Q62881, Q69ZB3, Q6P752, Q86V59, Q8BSI6, Q8IWY8, Q8N3D4, Q8VD63

Diamond homologs: A0FI79, A8MR21, D3ZGS3, G5ECL2, O14306, O15056, O18964, O43001, O43426, O55207, O76745, O80560, P32019, P34370, P40559, P50942, P59644, P97573, Q01968, Q0WQ41, Q0WT19, Q12271, Q15735, Q2I6J1, Q5EAF2, Q62910, Q66GQ6, Q6NVF0, Q6P4S2, Q84MA2, Q84W55, Q8C5L6, Q8CHC4, Q8GTS0, Q8H0Z6, Q8K337, Q9D2G5, Q9ES52, Q9FUR2, Q9JII1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	118
Likely benign	4
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

2442 predictions. Top by Δscore:

Variant	Effect	Δscore
22:31126488:GG:G	donor_gain	1.0000
22:31126488:GGGT:G	donor_loss	1.0000
22:31126489:GG:G	donor_gain	1.0000
22:31126490:GTGAG:G	donor_loss	1.0000
22:31126611:AG:A	acceptor_gain	1.0000
22:31126612:GG:G	acceptor_gain	1.0000
22:31126612:GGT:G	acceptor_gain	1.0000
22:31126673:GTGGA:G	donor_gain	1.0000
22:31126678:G:GG	donor_gain	1.0000
22:31127042:GCCT:G	donor_gain	1.0000
22:31127355:AG:A	acceptor_gain	1.0000
22:31127356:GG:G	acceptor_gain	1.0000
22:31127516:G:GT	donor_gain	1.0000
22:31127525:GATCA:G	donor_gain	1.0000
22:31127529:A:AG	donor_gain	1.0000
22:31127529:A:G	donor_gain	1.0000
22:31127531:GA:G	donor_gain	1.0000
22:31127533:G:GG	donor_gain	1.0000
22:31127945:A:AG	acceptor_gain	1.0000
22:31127947:ACAGC:A	acceptor_loss	1.0000
22:31127948:CAGC:C	acceptor_loss	1.0000
22:31127949:AGCCT:A	acceptor_loss	1.0000
22:31127950:GC:G	acceptor_gain	1.0000
22:31127950:GCCT:G	acceptor_gain	1.0000
22:31127950:GCCTC:G	acceptor_gain	1.0000
22:31128200:T:TA	acceptor_gain	1.0000
22:31128322:AG:A	donor_loss	1.0000
22:31128325:T:A	donor_loss	1.0000
22:31128466:T:A	acceptor_gain	1.0000
22:31128469:A:AG	acceptor_gain	1.0000

AlphaMissense

6461 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:31126392:T:A	W430R	1.000
22:31126392:T:C	W430R	1.000
22:31126397:C:A	N431K	1.000
22:31126397:C:G	N431K	1.000
22:31126674:T:A	W483R	1.000
22:31126674:T:C	W483R	1.000
22:31127967:G:T	G602W	1.000
22:31127968:G:A	G602E	1.000
22:31127968:G:T	G602V	1.000
22:31127971:A:C	D603A	1.000
22:31127971:A:G	D603G	1.000
22:31127971:A:T	D603V	1.000
22:31127974:T:C	L604P	1.000
22:31127978:C:A	N605K	1.000
22:31127978:C:G	N605K	1.000
22:31127979:T:C	F606L	1.000
22:31127981:C:A	F606L	1.000
22:31127981:C:G	F606L	1.000
22:31128010:T:A	V616D	1.000
22:31128057:G:C	D632H	1.000
22:31128058:A:C	D632A	1.000
22:31128281:C:A	P656H	1.000
22:31128286:T:C	F658L	1.000
22:31128288:C:A	F658L	1.000
22:31128288:C:G	F658L	1.000
22:31128289:A:G	K659E	1.000
22:31128291:G:C	K659N	1.000
22:31128291:G:T	K659N	1.000
22:31128292:T:C	F660L	1.000
22:31128294:T:A	F660L	1.000

dbSNP variants (sampled 300 via entrez): RS1001043294 (22:31131388 C>A,T), RS1001389595 (22:31131810 C>T), RS1001404651 (22:31129627 T>A), RS1001460482 (22:31122601 A>T), RS1001493412 (22:31130584 A>G), RS1001729228 (22:31135086 G>C), RS1002365345 (22:31132503 G>A), RS1002450053 (22:31124284 G>A), RS1002796999 (22:31131248 T>G), RS1003211757 (22:31127243 A>G), RS1003235630 (22:31121096 T>C), RS1003804956 (22:31127095 C>A,G,T), RS1003900231 (22:31129439 C>T), RS1004239585 (22:31123593 G>C), RS1004399519 (22:31130500 C>T)

Disease associations

OMIM: gene MIM:606481 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST003876_1	Gut microbiota (beta diversity)	5.000000e-08
GCST010135_20	Oily fish consumption	3.000000e-10
GCST010135_5	Oily fish consumption	1.000000e-15
GCST010140_12	Pork consumption	3.000000e-10
GCST010140_49	Pork consumption	1.000000e-15
GCST010142_11	Fish- and plant-related diet	1.000000e-11

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007874	gut microbiome measurement
EFO:0008111	diet measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

GtoPdb / IUPHAR curated pharmacology

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

Target class: enzyme — Inositol polyphosphate phosphatases

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases methylation, increases expression	3
Cisplatin	affects expression, increases expression	2
aristolochic acid I	increases expression	1
beta-lapachone	decreases expression	1
sulforaphane	decreases expression	1
nutlin 3	affects cotreatment, increases expression	1
Decitabine	affects expression	1
Dactinomycin	increases expression, affects cotreatment	1
Doxorubicin	decreases expression	1
Estradiol	decreases expression	1
Niclosamide	increases expression	1
Smoke	decreases expression	1
Testosterone	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Okadaic Acid	increases expression	1
Acrylamide	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SS71	HAP1 INPP5J (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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