IMPA2

Summary

IMPA2 (inositol monophosphatase 2, HGNC:6051) is a protein-coding gene on chromosome 18p11.21, encoding Inositol monophosphatase 2 (O14732). Phosphatase that can use myo-inositol monophosphates, myo-inositol 1,4-diphosphate, scyllo-inositol-1,4-diphosphate, glucose-1-phosphate, beta-glycerophosphate and 2’-AMP as substrates in vitro.

This locus encodes an inositol monophosphatase. The encoded protein catalyzes the dephosphoylration of inositol monophosphate and plays an important role in phosphatidylinositol signaling. This locus may be associated with susceptibility to bipolar disorder.

Source: NCBI Gene 3613 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 63 total
• MANE Select transcript: NM_014214

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6051
Approved symbol	IMPA2
Name	inositol monophosphatase 2
Location	18p11.21
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000141401
Ensembl biotype	protein_coding
OMIM	605922
Entrez	3613

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 6 protein_coding, 4 nonsense_mediated_decay, 3 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000269159, ENST00000383376, ENST00000586230, ENST00000588167, ENST00000588752, ENST00000588863, ENST00000588927, ENST00000589238, ENST00000589374, ENST00000590107, ENST00000590138, ENST00000625802, ENST00000886600, ENST00000922526

RefSeq mRNA: 1 — MANE Select: NM_014214 NM_014214

CCDS: CCDS11855

Canonical transcript exons

ENST00000269159 — 8 exons

Exon	Start	End
ENSE00001268526	12030343	12030877
ENSE00003461696	12014265	12014373
ENSE00003470150	12009883	12009987
ENSE00003485412	11999054	11999187
ENSE00003567685	12028043	12028151
ENSE00003569554	12012170	12012215
ENSE00003581234	12028842	12028993
ENSE00003842736	11981507	11981765

Expression profiles

Bgee: expression breadth ubiquitous, 262 present calls, max score 99.29.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.2133 / max 609.3379, expressed in 1689 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
169472	13.1548	1465
169471	5.3777	1468
169473	0.3902	191
169470	0.2906	118

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	99.29	gold quality
skin of abdomen	UBERON:0001416	98.67	gold quality
gastrocnemius	UBERON:0001388	98.56	gold quality
skin of leg	UBERON:0001511	98.52	gold quality
hindlimb stylopod muscle	UBERON:0004252	98.36	gold quality
lower esophagus mucosa	UBERON:0035834	98.34	gold quality
esophagus squamous epithelium	UBERON:0006920	98.31	gold quality
esophagus mucosa	UBERON:0002469	98.28	gold quality
adult mammalian kidney	UBERON:0000082	98.20	gold quality
epithelium of esophagus	UBERON:0001976	98.18	gold quality
zone of skin	UBERON:0000014	98.16	gold quality
mammalian vulva	UBERON:0000997	97.91	gold quality
upper leg skin	UBERON:0004262	97.82	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	97.78	gold quality
muscle of leg	UBERON:0001383	97.72	gold quality
muscle organ	UBERON:0001630	97.51	gold quality
skeletal muscle organ	UBERON:0014892	97.51	gold quality
mucosa of transverse colon	UBERON:0004991	97.38	gold quality
penis	UBERON:0000989	97.14	gold quality
esophagus	UBERON:0001043	97.14	gold quality
skeletal muscle tissue	UBERON:0001134	97.09	gold quality
metanephros cortex	UBERON:0010533	97.09	gold quality
upper arm skin	UBERON:0004263	97.07	gold quality
vastus lateralis	UBERON:0001379	97.02	gold quality
quadriceps femoris	UBERON:0001377	97.00	gold quality
mucosa of stomach	UBERON:0001199	96.90	gold quality
decidua	UBERON:0002450	96.90	gold quality
gingiva	UBERON:0001828	96.59	gold quality
squamous epithelium	UBERON:0006914	96.50	gold quality
nephron tubule	UBERON:0001231	96.23	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-6701	yes	74.56
E-ANND-3	yes	21.60
E-GEOD-81547	yes	19.60
E-MTAB-6911	no	198.46

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC

miRNA regulators (miRDB)

35 targeting IMPA2, 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-513A-5P	100.00	69.77	2465
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-556-3P	99.74	68.75	1203
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-5004-3P	99.54	68.27	1371
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-122B-3P	99.21	68.90	1333
HSA-MIR-21-3P	99.21	68.95	1312
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-4324	99.04	70.14	1569
HSA-MIR-625-5P	99.02	68.64	2031
HSA-MIR-7155-5P	98.65	66.14	1290
HSA-MIR-6887-5P	98.56	68.49	1295
HSA-MIR-6795-5P	98.52	68.51	1277
HSA-MIR-4277	98.34	67.17	1323
HSA-MIR-637	97.91	64.05	1517
HSA-MIR-6508-3P	96.73	65.48	576
HSA-MIR-1291	96.28	65.89	1224

Literature-anchored findings (GeneRIF, showing 17)

• Promoter is polymorphic in bipolar disorder. (PMID:14699425)
• IMPA2 may be a febrile seizure susceptibility gene. 6 SNPs were found: -708G/A, -461C/T, IVS1-15G/A, 159T/C, IVS5+13-14insA, & 558C/T. (PMID:15557493)
• IMPA2 has a separate function in vivo from that of IMPA1 (PMID:17068342)
• the present study suggests that a promoter haplotype of IMPA2 possibly contributes to risk for bipolar disorder by elevating IMPA2 levels in the brain, albeit the genetic effect varies among populations. (PMID:17251911)
• The crystal structures of human IMPA2 are useful for understanding the effect of nonsynonymous polymorphism reported in IMPA2, and will contribute to further functional analyses of IMPA2. (PMID:17340635)
• data suggest that the genetic variants in the IMPA2 gene are not associated with a risk of febrile seizures in Caucasian patients and patients from various genetic groups are likely to have different genetic causes of febrile seizures (PMID:17388992)
• Single nucleotide polymorphism in IMPA2 gene is associated with acute lymphoblastic leukemia. (PMID:19066393)
• The current study did not support a substantial role of the upregulation of IMPase in bipolar disorder, although the lithium-insensitivity trait seen in IMPA2 transgenic mice might represent some aspect relevant to the inositol depletion hypothesis. (PMID:20153384)
• No association is found between IMPA2 gene polymorphisms and bipolar disorder. (PMID:20800640)
• Authors propose that the human myo-inositol monophosphatase 2 interacts with myo-inositol monophosphates in the three-metal-ion bound form, and proceeds the dephosphorylation through the three-metal-ion theory. (PMID:21213002)
• results suggest that genetic variability at rs669838-IMPA2,rs4853694-INPP1, rs1732170-GSK3b and rs11921360-GSK3b genes is associated with a higher risk of attempting suicide in bipolar patients. (PMID:23453640)
• a correlation between an IMPA2 polymorphism rs589247 and ischemic stroke risk in a northwest Han Chinese (PMID:27661109)
• a promoter polymorphism of IMPA2 possibly contributed to risk for schizophrenia by elevating transcription activity in Han Chinese individuals. (PMID:27748550)
• IMPA2 is a protein-coding gene for a catalytic protein that converts inositol monophosphate into free inositol through dephosphorylation. (PMID:29499505)
• We conclude that miR-25-mediated IMPA2 downregulation constitutes a novel signature for cancer metastasis and poor outcomes in clear cell renal cell carcinoma (ccRCC). We further postulate that the therapeutic targeting of miR-25 can be useful for preventing the metastatic progression of ccRCC associated with IMPA2 downregulation. (PMID:31202813)
• A novel function of IMPA2, plays a tumor-promoting role in cervical cancer. (PMID:32409648)
• IMPA2 promotes basal-like breast cancer aggressiveness by a MYC-mediated positive feedback loop. (PMID:38048842)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	impa2	ENSDARG00000059411
mus_musculus	Impa2	ENSMUSG00000024525
rattus_norvegicus	Impa2	ENSRNOG00000018516
drosophila_melanogaster	CG17026	FBGN0036550
drosophila_melanogaster	CG17029	FBGN0036551
drosophila_melanogaster	CG17028	FBGN0036552
drosophila_melanogaster	CG17027	FBGN0036553

Paralogs (4): BPNT2 (ENSG00000104331), IMPA1 (ENSG00000133731), INPP1 (ENSG00000151689), BPNT1 (ENSG00000162813)

Protein

Protein identifiers

Inositol monophosphatase 2 — O14732 (reviewed: O14732)

Alternative names: Inositol-1(or 4)-monophosphatase 2, Myo-inositol monophosphatase A2

All UniProt accessions (6): O14732, K7EIH6, K7EII9, K7EL65, K7ELF8, Q6PIP6

UniProt curated annotations — full annotation on UniProt →

Function. Phosphatase that can use myo-inositol monophosphates, myo-inositol 1,4-diphosphate, scyllo-inositol-1,4-diphosphate, glucose-1-phosphate, beta-glycerophosphate and 2’-AMP as substrates in vitro. It is likely that IMPA2 has an as yet unidentified in vivo substrate(s). Has been implicated as the pharmacological target for lithium (Li(+)) action in brain.

Subunit / interactions. Homodimer.

Subcellular location. Cytoplasm.

Activity regulation. Inhibited by high Li(+) and restricted Mg(2+) concentrations.

Induction. Repressed by Li(+).

Pathway. Polyol metabolism; myo-inositol biosynthesis; myo-inositol from D-glucose 6-phosphate: step 2/2.

Similarity. Belongs to the inositol monophosphatase superfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
O14732-1	1	yes
O14732-2	2, A2b

RefSeq proteins (1): NP_055029* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000760	Inositol_monophosphatase-like	Family
IPR020550	Inositol_monophosphatase_CS	Conserved_site
IPR020552	Inositol_monoPase_Li-sen	Family
IPR020583	Inositol_monoP_metal-BS	Binding_site
IPR033942	IMPase	Family

Pfam: PF00459

Catalyzed reactions (Rhea), 10 shown:

• glycerol 2-phosphate + H2O = glycerol + phosphate (RHEA:13105)
• alpha-D-glucose 1-phosphate + H2O = D-glucose + phosphate (RHEA:19933)
• a myo-inositol phosphate + H2O = myo-inositol + phosphate (RHEA:24056)
• 1D-myo-inositol 1-phosphate + H2O = myo-inositol + phosphate (RHEA:27670)
• 1D-myo-inositol 4-phosphate + H2O = myo-inositol + phosphate (RHEA:30735)
• 1D-myo-inositol 3-phosphate + H2O = myo-inositol + phosphate (RHEA:30739)
• adenosine 2’-phosphate + H2O = adenosine + phosphate (RHEA:37343)
• 1D-myo-inositol 2-phosphate + H2O = myo-inositol + phosphate (RHEA:44152)
• 1D-myo-inositol 5-phosphate + H2O = myo-inositol + phosphate (RHEA:44156)
• 1D-myo-inositol 6-phosphate + H2O = myo-inositol + phosphate (RHEA:44160)

UniProt features (39 total): strand 12, binding site 11, helix 10, turn 2, chain 1, splice variant 1, sequence variant 1, mutagenesis site 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
2FVZ	X-RAY DIFFRACTION	2.4
2CZH	X-RAY DIFFRACTION	2.7
2DDK	X-RAY DIFFRACTION	2.7
2CZK	X-RAY DIFFRACTION	2.9
2CZI	X-RAY DIFFRACTION	3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O14732-F1	94.94	0.92

Functional residue map

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

Ligand- & substrate-binding residues (11): 81; 231; 231; 81; 101; 101; 103–106; 103; 104; 205–207; 224

Mutagenesis-validated functional residues (1):

Position	Phenotype
104	loss of activity.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-1855183	Synthesis of IP2, IP, and Ins in the cytosol
R-HSA-1430728	Metabolism
R-HSA-1483249	Inositol phosphate metabolism

MSigDB gene sets: 299 (showing top): GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS, JAEGER_METASTASIS_DN, MODULE_45, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, GOBP_POLYOL_METABOLIC_PROCESS, MITSIADES_RESPONSE_TO_APLIDIN_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, MODULE_16, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_RESPONSE_TO_METAL_ION, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS

GO Biological Process (6): inositol metabolic process (GO:0006020), inositol biosynthetic process (GO:0006021), phosphate-containing compound metabolic process (GO:0006796), signal transduction (GO:0007165), response to lithium ion (GO:0010226), phosphatidylinositol phosphate biosynthetic process (GO:0046854)

GO Molecular Function (10): glucose-1-phosphatase activity (GO:0008877), inositol monophosphate 1-phosphatase activity (GO:0008934), protein homodimerization activity (GO:0042803), metal ion binding (GO:0046872), glycerol-2-phosphatase activity (GO:0047954), inositol monophosphate 3-phosphatase activity (GO:0052832), inositol monophosphate 4-phosphatase activity (GO:0052833), protein binding (GO:0005515), hydrolase activity (GO:0016787), inositol monophosphate phosphatase activity (GO:0052834)

GO Cellular Component (2): cytoplasm (GO:0005737), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Inositol phosphate metabolism	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
inositol monophosphate phosphatase activity	3
cellular anatomical structure	2
polyol metabolic process	1
inositol metabolic process	1
polyol biosynthetic process	1
metabolic process	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
response to metal ion	1
glycerophospholipid biosynthetic process	1
sugar-phosphatase activity	1
identical protein binding	1
protein dimerization activity	1
cation binding	1
phosphatase activity	1
binding	1
catalytic activity	1
inositol phosphate phosphatase activity	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

1946 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IMPA2	GNAL	P38405	844
IMPA2	INPP1	P49441	668
IMPA2	ISYNA1	Q9NPH2	646
IMPA2	SYNJ1	O43426	507
IMPA2	BPNT2	Q9NX62	501
IMPA2	IMPA1	P29218	444
IMPA2	CDIPT	O14735	442
IMPA2	PI4K2B	Q8TCG2	437
IMPA2	LRRC42	Q9Y546	413
IMPA2	DTNBP1	Q96EV8	399
IMPA2	CYP2E1	P05181	374
IMPA2	CYP1A2	P05177	373
IMPA2	SAMM50	Q9Y512	371
IMPA2	CYP3A5	P20815	366
IMPA2	IPPK	Q9H8X2	365

IntAct

49 interactions, top by confidence:

A	B	Type	Score
UBA3	IMPA2	psi-mi:“MI:0915”(physical association)	0.720
IMPA2	UBA3	psi-mi:“MI:0915”(physical association)	0.720
IMPA2	IMPA1	psi-mi:“MI:0915”(physical association)	0.680
IMPA1	IMPA2	psi-mi:“MI:0915”(physical association)	0.680
IMPA2	SLC44A3	psi-mi:“MI:0915”(physical association)	0.560
IMPA2	IMPA1	psi-mi:“MI:0915”(physical association)	0.560
IMPA2	IMPA2	psi-mi:“MI:0915”(physical association)	0.370
IMPA2	TNFRSF14	psi-mi:“MI:0915”(physical association)	0.370
IMPA2	KRT1	psi-mi:“MI:0914”(association)	0.350
P		psi-mi:“MI:0914”(association)	0.350
rep	TAF4	psi-mi:“MI:0914”(association)	0.350
CUL4A	DDX39A	psi-mi:“MI:0914”(association)	0.350
CUL4B	GGTLC3	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
ATG16L1		psi-mi:“MI:0914”(association)	0.350
STX17	A2ML1	psi-mi:“MI:0914”(association)	0.350
TEFM	A2ML1	psi-mi:“MI:0914”(association)	0.350
RIPPLY3	A2ML1	psi-mi:“MI:0914”(association)	0.350
PTDSS1	IGLL5	psi-mi:“MI:0914”(association)	0.350
TSPAN6	IMPA2	psi-mi:“MI:0914”(association)	0.350
CCR1	UBA6	psi-mi:“MI:0914”(association)	0.350
KLRD1	TMEM131L	psi-mi:“MI:0914”(association)	0.350
NDST2	A2ML1	psi-mi:“MI:0914”(association)	0.350
ERCC3	A2ML1	psi-mi:“MI:0914”(association)	0.350
SH2D3A	A2ML1	psi-mi:“MI:0914”(association)	0.350
C18orf21	A2ML1	psi-mi:“MI:0914”(association)	0.350

BioGRID (86): IMPA2 (Two-hybrid), IMPA2 (Two-hybrid), UBA3 (Two-hybrid), IMPA2 (Affinity Capture-MS), IMPA2 (Affinity Capture-MS), IMPA2 (Affinity Capture-MS), ALDOA (Co-fractionation), ALDOC (Co-fractionation), ARHGDIA (Co-fractionation), DUT (Co-fractionation), FSCN1 (Co-fractionation), GPX4 (Co-fractionation), IMPA2 (Co-fractionation), IMPA2 (Co-fractionation), IMPA2 (Co-fractionation)

ESM2 similar proteins: A0A0F6B4W4, A0QX86, A1URA6, A7HYA5, B0B944, B0BAS3, B0TAY4, B4ED80, B4F224, O14732, O49071, O55023, O77591, O84822, P0ADG4, P0ADG5, P0ADG6, P20456, P29218, P29219, P44332, P44333, P54926, P54927, P54928, P56160, P56947, P58537, P73833, P74158, P97697, Q19420, Q3KKM5, Q3SJR2, Q54U72, Q5R4X0, Q6FYQ7, Q87BG1, Q8CIN7, Q91UZ5

Diamond homologs: A0A0F6B4W4, A0QX86, B4ED80, O14732, O26957, O30298, O33832, O49071, O53907, O55023, O67791, O77591, P0ADG4, P0ADG5, P0ADG6, P11634, P20456, P25416, P29218, P29219, P38710, P44333, P46813, P54926, P54927, P54928, P55450, P57372, P58537, P65166, P74158, P95189, P97697, P9WKI8, P9WKI9, Q05533, Q19420, Q45499, Q54U72, Q5JH93

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	46
Likely benign	2
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

1825 predictions. Top by Δscore:

Variant	Effect	Δscore
18:11999047:A:AG	acceptor_gain	1.0000
18:11999050:TCA:T	acceptor_loss	1.0000
18:11999051:CA:C	acceptor_loss	1.0000
18:11999052:A:AG	acceptor_gain	1.0000
18:11999053:G:GA	acceptor_gain	1.0000
18:11999053:GAT:G	acceptor_gain	1.0000
18:11999053:GATC:G	acceptor_gain	1.0000
18:11999188:G:GA	donor_loss	1.0000
18:11999188:G:GG	donor_gain	1.0000
18:12009879:GCAG:G	acceptor_loss	1.0000
18:12009881:AGGTT:A	acceptor_loss	1.0000
18:12014253:T:TA	acceptor_gain	1.0000
18:12028193:G:GT	donor_gain	1.0000
18:12028237:G:GT	donor_gain	1.0000
18:12028240:G:GT	donor_gain	1.0000
18:11981762:ACAGG:A	donor_loss	0.9900
18:11981763:CAGGT:C	donor_loss	0.9900
18:11981764:AGGT:A	donor_loss	0.9900
18:11981766:G:A	donor_loss	0.9900
18:11981767:T:G	donor_loss	0.9900
18:11999051:CAGAT:C	acceptor_gain	0.9900
18:11999053:GA:G	acceptor_gain	0.9900
18:11999053:GATCA:G	acceptor_gain	0.9900
18:11999141:G:GT	donor_gain	0.9900
18:12009881:A:AG	acceptor_gain	0.9900
18:12009882:G:GG	acceptor_gain	0.9900
18:12009882:GGTTC:G	acceptor_gain	0.9900
18:12009985:CAGG:C	donor_loss	0.9900
18:12009987:GGT:G	donor_loss	0.9900
18:12009989:T:G	donor_loss	0.9900

AlphaMissense

1844 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:12009944:T:A	W98R	0.998
18:12009944:T:C	W98R	0.998
18:12009976:T:A	N108K	0.997
18:12009976:T:G	N108K	0.997
18:12028934:A:C	D231A	0.997
18:12009894:A:T	E81V	0.996
18:12012189:A:C	S119R	0.996
18:12012191:C:A	S119R	0.996
18:12012191:C:G	S119R	0.996
18:12012196:G:A	G121E	0.996
18:12028934:A:T	D231V	0.996
18:11999130:A:T	D58V	0.995
18:11999131:T:A	D58E	0.995
18:11999131:T:G	D58E	0.995
18:12009895:A:C	E81D	0.994
18:12009895:A:T	E81D	0.994
18:12009946:G:C	W98C	0.994
18:12009946:G:T	W98C	0.994
18:12009955:C:A	D101E	0.994
18:12009955:C:G	D101E	0.994
18:12009977:T:C	F109L	0.994
18:12009979:T:A	F109L	0.994
18:12009979:T:G	F109L	0.994
18:12028934:A:G	D231G	0.994
18:12028935:T:A	D231E	0.994
18:12028935:T:G	D231E	0.994
18:12028966:G:C	A242P	0.994
18:11999130:A:C	D58A	0.993
18:12009954:A:G	D101G	0.993
18:12009964:C:A	D104E	0.993

dbSNP variants (sampled 300 via entrez): RS1000050585 (18:12029389 C>T), RS1000221246 (18:12028241 A>C), RS1000222223 (18:11997396 T>C), RS1000236548 (18:12021708 G>A), RS1000268738 (18:11982844 T>G), RS1000277016 (18:11994611 A>C,G), RS1000293292 (18:12028019 G>A,T), RS1000301515 (18:11994233 G>A), RS1000324168 (18:12027780 C>T), RS1000326914 (18:12001805 G>C), RS1000385325 (18:11990196 T>G), RS1000454790 (18:12014646 A>C,T), RS1000488008 (18:11995746 AC>A), RS1000507249 (18:12010365 A>G), RS1000653788 (18:11981607 A>G)

Disease associations

OMIM: gene MIM:605922 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST000032_1	Stroke	7.000000e-07
GCST004703_3	Obsessive-compulsive disorder or autism spectrum disorder	4.000000e-06
GCST008223_4	Diabetic peripheral neuropathy in type 2 diabetes	5.000000e-06
GCST90002384_429	Hemoglobin	7.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004509	hemoglobin measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs971363	IMPA2		0.00	0

GtoPdb / IUPHAR curated pharmacology

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

Target class: enzyme — Inositol monophosphatase

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	5
Cyclosporine	decreases expression, increases expression	4
Progesterone	increases expression	3
Tetrachlorodibenzodioxin	affects expression, decreases expression	3
sodium arsenite	increases abundance, decreases expression, affects cotreatment	2
Air Pollutants	decreases expression, increases abundance, increases expression	2
Arsenic	decreases expression, increases abundance, affects cotreatment	2
Tobacco Smoke Pollution	decreases expression, increases expression	2
Particulate Matter	affects cotreatment, increases expression, decreases expression, increases abundance	2
GSK-J4	decreases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases methylation	1
sodium arsenate	increases abundance, decreases expression	1
methotrexate polyglutamate	affects abundance	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
nickel sulfate	increases expression	1
avobenzone	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
entinostat	increases expression	1
K 7174	decreases expression	1
ICG 001	increases expression	1
abrine	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
jinfukang	increases expression	1
Sunitinib	decreases expression	1
Arsenic Trioxide	decreases expression	1

Clinical trials (associated diseases)

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