IPO11

Summary

IPO11 (importin 11, HGNC:20628) is a protein-coding gene on chromosome 5q12.1, encoding Importin-11 (Q9UI26). Functions in nuclear protein import as nuclear transport receptor. It is a common-essential gene (DepMap: required in 97.0% of cancer cell lines).

Importins, including IPO11, are a members of the karyopherin/importin-beta family of transport receptors (see KPNB1; 602738) that mediate nucleocytoplasmic transport of protein and RNA cargoes (Plafker and Macara, 2000 [PubMed 11032817]).

Source: NCBI Gene 51194 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 236 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 97.0% of screened cell lines (common-essential)
• MANE Select transcript: NM_016338

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20628
Approved symbol	IPO11
Name	importin 11
Location	5q12.1
Locus type	gene with protein product
Status	Approved
Aliases	RanBP11
Ensembl gene	ENSG00000086200
Ensembl biotype	protein_coding
OMIM	610889
Entrez	51194

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 12 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000325324, ENST00000409296, ENST00000409534, ENST00000413749, ENST00000424533, ENST00000502862, ENST00000505902, ENST00000506200, ENST00000506905, ENST00000507640, ENST00000511133, ENST00000511713, ENST00000512177, ENST00000514647, ENST00000857349, ENST00000857350, ENST00000945044, ENST00000945045, ENST00000945046

RefSeq mRNA: 2 — MANE Select: NM_016338 NM_001134779, NM_016338

CCDS: CCDS34167, CCDS47217

Canonical transcript exons

ENST00000325324 — 30 exons

Exon	Start	End
ENSE00000748444	62442983	62443083
ENSE00000748445	62449927	62449999
ENSE00000837038	62506241	62506357
ENSE00000837044	62537209	62537289
ENSE00000837045	62550367	62550462
ENSE00000837046	62551223	62551336
ENSE00001082181	62484010	62484162
ENSE00001082183	62487771	62487861
ENSE00001082187	62483101	62483293
ENSE00001082188	62467131	62467263
ENSE00001082190	62485419	62485462
ENSE00001148703	62476683	62476753
ENSE00001286905	62489302	62489349
ENSE00001344361	62412763	62412929
ENSE00001505627	62504858	62504898
ENSE00001505628	62504667	62504700
ENSE00001505629	62493998	62494124
ENSE00001505630	62490115	62490220
ENSE00001580766	62627154	62628582
ENSE00003477422	62515388	62515501
ENSE00003478132	62591577	62591672
ENSE00003486351	62470250	62470308
ENSE00003495007	62451730	62451933
ENSE00003549963	62474416	62474464
ENSE00003569516	62561136	62561257
ENSE00003573791	62601764	62601848
ENSE00003578860	62526142	62526257
ENSE00003593365	62437274	62437417
ENSE00003597649	62536702	62536781
ENSE00003599079	62530709	62530785

Expression profiles

Bgee: expression breadth ubiquitous, 241 present calls, max score 93.44.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.7451 / max 185.4348, expressed in 1813 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
56646	24.3764	1811
56648	2.7318	376
56645	0.7660	510
56644	0.5935	257
56650	0.0092	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	93.44	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.20	gold quality
colonic epithelium	UBERON:0000397	91.23	gold quality
bronchial epithelial cell	CL:0002328	90.59	gold quality
ventricular zone	UBERON:0003053	89.93	gold quality
bronchus	UBERON:0002185	89.34	gold quality
right testis	UBERON:0004534	88.87	gold quality
testis	UBERON:0000473	88.53	gold quality
left testis	UBERON:0004533	88.47	gold quality
sperm	CL:0000019	88.11	gold quality
adrenal tissue	UBERON:0018303	87.04	gold quality
calcaneal tendon	UBERON:0003701	86.63	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	86.28	gold quality
omental fat pad	UBERON:0010414	86.20	gold quality
ganglionic eminence	UBERON:0004023	86.18	gold quality
peritoneum	UBERON:0002358	86.15	gold quality
bone marrow cell	CL:0002092	85.92	gold quality
adipose tissue of abdominal region	UBERON:0007808	85.56	gold quality
hindlimb stylopod muscle	UBERON:0004252	85.42	gold quality
islet of Langerhans	UBERON:0000006	85.41	gold quality
subcutaneous adipose tissue	UBERON:0002190	85.10	gold quality
smooth muscle tissue	UBERON:0001135	84.87	gold quality
heart left ventricle	UBERON:0002084	84.82	gold quality
secondary oocyte	CL:0000655	84.43	gold quality
cardiac ventricle	UBERON:0002082	84.30	gold quality
right atrium auricular region	UBERON:0006631	84.13	gold quality
muscle of leg	UBERON:0001383	83.94	gold quality
gastrocnemius	UBERON:0001388	83.83	gold quality
gall bladder	UBERON:0002110	83.82	gold quality
heart	UBERON:0000948	83.72	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-HCAD-11	yes	40.56
E-HCAD-1	yes	16.99
E-GEOD-135922	yes	10.48
E-ANND-3	yes	7.10
E-MTAB-7249	no	367.41

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

87 targeting IPO11, 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-3163	100.00	77.23	8605
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-23B-5P	99.98	66.07	587
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-23A-5P	99.94	65.39	468
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-202-3P	99.84	71.41	1290
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-12129	99.72	67.45	1311
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-7154-5P	99.69	70.52	1900

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 97.0% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 8)

• Data indicate that ubiquitin-conjugating enzyme UBE2E3 and importin 11 (Imp-11)promote the nuclear accumulation and activity of transcription factor NF-E2 (Nrf2) by restricting the transcription factor from partitioning to the mitochondria (PMID:25378586)
• IPO11-HTR1A is a significant risk gene region for attention deficit hyperactivity disorder in Caucasians. (PMID:26079129)
• IPO11 copy number amplification and importin-11 overexpression are promising biomarkers for predicting the progression and poor prognosis of patients with NMIBC. (PMID:27689332)
• IPO11 provides protection in another way, the researchers found. The transport receptor also shuttles UBE2E1, an enzyme necessary for PTEN ubiquitination, into the nucleus. Thanks to IPO11, normal cells keep all of their UBE2E1 in the nucleus, allowing PTEN to continue functioning in the cytoplasm. In cells lacking IPO11, UBE2E1 remains in the cytoplasm and promotes the destruction of PTEN. (PMID:28258103)
• High IPO11 expression is associated with migration, invasion, and progression of bladder cancer. (PMID:29602637)
• IPO11 mediates betacatenin nuclear import in a subset of colorectal cancers. (PMID:31881079)
• The nuclear transporter importin-11 regulates the Wnt/beta-catenin pathway and acts as a tumor promoter in glioma. (PMID:33571591)
• Circular RNA circIPO11 drives self-renewal of liver cancer initiating cells via Hedgehog signaling. (PMID:34649567)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ipo11	ENSDARG00000054224
mus_musculus	Ipo11	ENSMUSG00000042590
rattus_norvegicus	Ipo11	ENSRNOG00000055661
rattus_norvegicus		ENSRNOG00000062438
drosophila_melanogaster	Impbeta11	FBGN0284254

Paralogs (4): CSE1L (ENSG00000124207), IPO8 (ENSG00000133704), IPO9 (ENSG00000198700), IPO7 (ENSG00000205339)

Protein

Protein identifiers

Importin-11 — Q9UI26 (reviewed: Q9UI26)

Alternative names: Ran-binding protein 11

All UniProt accessions (8): Q9UI26, D6RCN7, D6RCQ2, D6RJB1, E7EMB7, F8WBN4, F8WDV0, H0Y8M5

UniProt curated annotations — full annotation on UniProt →

Function. Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Mediates the nuclear import of UBE2E3, and of RPL12.

Subunit / interactions. Interacts with UBE2E3 and RPL12.

Subcellular location. Cytoplasm. Nucleus.

Similarity. Belongs to the importin beta family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UI26-1	1	yes
Q9UI26-2	2

RefSeq proteins (2): NP_001128251, NP_057422* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001494	Importin-beta_N	Domain
IPR011989	ARM-like	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR058669	TPR_IPO7/11-like	Domain

Pfam: PF03810, PF25758

UniProt features (29 total): repeat 15, sequence conflict 7, modified residue 2, sequence variant 2, chain 1, domain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UI26-F1	93.53	0.89

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 (2): 1, 343

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 180 (showing top): E2F_Q4_01, HORIUCHI_WTAP_TARGETS_DN, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOMF_GTPASE_BINDING, GOBP_NUCLEAR_TRANSPORT, WEI_MYCN_TARGETS_WITH_E_BOX, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, TGANTCA_AP1_C, GARY_CD5_TARGETS_DN, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, FISCHER_DREAM_TARGETS, DOUGLAS_BMI1_TARGETS_UP, JAATINEN_HEMATOPOIETIC_STEM_CELL_UP

GO Biological Process (4): protein import into nucleus (GO:0006606), ribosomal protein import into nucleus (GO:0006610), intracellular protein transport (GO:0006886), protein transport (GO:0015031)

GO Molecular Function (3): small GTPase binding (GO:0031267), nuclear import signal receptor activity (GO:0061608), protein binding (GO:0005515)

GO Cellular Component (5): nuclear envelope (GO:0005635), nucleoplasm (GO:0005654), cytosol (GO:0005829), nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
import into nucleus	2
intracellular protein localization	2
intracellular protein transport	1
protein localization to nucleus	1
establishment of protein localization to organelle	1
protein import into nucleus	1
protein transport	1
intracellular transport	1
transport	1
establishment of protein localization	1
GTPase binding	1
nucleocytoplasmic carrier activity	1
binding	1
nucleus	1
endomembrane system	1
organelle envelope	1
nuclear lumen	1
cytoplasm	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

850 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IPO11	UBE2E3	Q969T4	911
IPO11	IPO5	O00410	903
IPO11	LRRC70	Q7Z2Q7	847
IPO11	KPNB1	Q14974	843
IPO11	RPL12	P30050	831
IPO11	RPL23A	P29316	776
IPO11	IPO13	O94829	775
IPO11	TNPO3	Q9Y5L0	756
IPO11	IPO4	Q8TEX9	746
IPO11	IPO8	O15397	694
IPO11	TNPO1	Q92973	683
IPO11	TNPO2	O14787	680
IPO11	XPO4	Q9C0E2	617
IPO11	UBE2E2	Q96LR5	603
IPO11	XPO7	Q9UIA9	565

IntAct

142 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
SCN2B	EXOC5	psi-mi:“MI:0914”(association)	0.640
SLC16A3	CASK	psi-mi:“MI:0914”(association)	0.590
EIF4A2	IPO11	psi-mi:“MI:0915”(physical association)	0.560
C1orf94	IPO11	psi-mi:“MI:0915”(physical association)	0.560
IPO11	EIF4A2	psi-mi:“MI:0915”(physical association)	0.560
IPO11	C1orf94	psi-mi:“MI:0915”(physical association)	0.560
IPO11	BSG	psi-mi:“MI:0914”(association)	0.560
IPO11	BSG	psi-mi:“MI:0915”(physical association)	0.560
IPO11		psi-mi:“MI:0915”(physical association)	0.550
HTR2C	KLRG2	psi-mi:“MI:0914”(association)	0.530
SLC15A1	METTL15	psi-mi:“MI:0914”(association)	0.530
CD70	METTL15	psi-mi:“MI:0914”(association)	0.530
IL13RA2	METTL15	psi-mi:“MI:0914”(association)	0.530
APLNR	METTL15	psi-mi:“MI:0914”(association)	0.530
COMTD1	IFRD1	psi-mi:“MI:0914”(association)	0.530
ARL13B	STK25	psi-mi:“MI:0914”(association)	0.530
APLNR	SLC33A1	psi-mi:“MI:0914”(association)	0.530
CD40	EXOC5	psi-mi:“MI:0914”(association)	0.530
NPTN	TNPO2	psi-mi:“MI:0914”(association)	0.530
GPR17	IPO8	psi-mi:“MI:0914”(association)	0.530
ILVBL	SLC33A1	psi-mi:“MI:0914”(association)	0.530
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530
STOM	EI24	psi-mi:“MI:0914”(association)	0.510

BioGRID (226): IPO11 (Two-hybrid), C1orf94 (Two-hybrid), IPO11 (Affinity Capture-RNA), IPO11 (Affinity Capture-MS), IPO11 (Affinity Capture-MS), IPO11 (Affinity Capture-MS), IPO11 (Affinity Capture-MS), IPO11 (Affinity Capture-MS), IPO11 (Affinity Capture-MS), IPO11 (Affinity Capture-MS), IPO11 (Affinity Capture-MS), IPO11 (Affinity Capture-MS), IPO11 (Affinity Capture-MS), IPO11 (Affinity Capture-MS), IPO11 (Two-hybrid)

ESM2 similar proteins: A0JMW2, A2VE70, A5WW24, A7E2Y6, B9EJR8, E0CZ22, E1BP36, E7FBU4, O35638, O43156, O70576, O75155, Q08AM6, Q0P5A6, Q0V9L1, Q16401, Q5IFJ8, Q5JTH9, Q5R6L5, Q5ZIW5, Q5ZKD5, Q66L58, Q68F38, Q6DCF2, Q6P5B0, Q6ZQ73, Q7TMY7, Q80W92, Q80WQ2, Q84ZC0, Q86Y56, Q8C0Y0, Q8K2V6, Q8NDA8, Q8WVM7, Q91V83, Q96T76, Q99M76, Q9BPX3, Q9D071

Diamond homologs: A5D785, O13671, P33307, P55060, Q54E36, Q5R9J2, Q6GMY9, Q7SZC2, Q8AY73, Q8K2V6, Q9ERK4, Q9PTU3, Q9UI26, Q9XZU1, Q9ZPY7, Q04175

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 160 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
G alpha (q) signalling events	12	6.7×	1e-04
Class A/1 (Rhodopsin-like receptors)	9	6.5×	2e-03
G alpha (s) signalling events	8	5.7×	8e-03
GPCR ligand binding	9	5.6×	4e-03
G alpha (i) signalling events	12	4.5×	2e-03
GPCR downstream signalling	10	4.2×	1e-02

GO biological processes:

GO term	Partners	Fold	FDR
adenylate cyclase-modulating G protein-coupled receptor signaling pathway	6	14.3×	1e-03
T cell costimulation	5	13.3×	6e-03
G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	5	11.1×	1e-02
positive regulation of cytosolic calcium ion concentration	9	7.5×	1e-03
phospholipase C-activating G protein-coupled receptor signaling pathway	8	7.5×	2e-03
adenylate cyclase-activating G protein-coupled receptor signaling pathway	9	7.2×	1e-03
cell surface receptor signaling pathway	12	5.5×	1e-03
G protein-coupled receptor signaling pathway	19	4.9×	1e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	194
Likely benign	11
Benign	8

Top pathogenic / likely-pathogenic (0)

SpliceAI

5949 predictions. Top by Δscore:

Variant	Effect	Δscore
5:62403675:T:TA	donor_gain	1.0000
5:62412885:G:GT	donor_gain	1.0000
5:62412885:G:T	donor_gain	1.0000
5:62437414:GCTG:G	donor_gain	1.0000
5:62437417:GGT:G	donor_loss	1.0000
5:62437418:G:GA	donor_loss	1.0000
5:62437418:G:GG	donor_gain	1.0000
5:62437419:TAA:T	donor_loss	1.0000
5:62443084:G:GG	donor_gain	1.0000
5:62449923:A:AG	acceptor_gain	1.0000
5:62449923:ACAGT:A	acceptor_gain	1.0000
5:62449924:C:G	acceptor_gain	1.0000
5:62449924:CAG:C	acceptor_loss	1.0000
5:62449925:A:AG	acceptor_gain	1.0000
5:62449925:A:C	acceptor_loss	1.0000
5:62449925:AGT:A	acceptor_gain	1.0000
5:62449926:G:GA	acceptor_gain	1.0000
5:62449926:GT:G	acceptor_gain	1.0000
5:62449926:GTG:G	acceptor_gain	1.0000
5:62449926:GTGC:G	acceptor_gain	1.0000
5:62449926:GTGCT:G	acceptor_gain	1.0000
5:62449997:CAGG:C	donor_loss	1.0000
5:62449998:AGG:A	donor_loss	1.0000
5:62449998:AGGTT:A	donor_gain	1.0000
5:62449999:GGT:G	donor_loss	1.0000
5:62450000:G:C	donor_loss	1.0000
5:62450000:GTTA:G	donor_gain	1.0000
5:62451726:TCA:T	acceptor_loss	1.0000
5:62451728:A:AT	acceptor_loss	1.0000
5:62451931:GAT:G	donor_gain	1.0000

AlphaMissense

6432 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:62443064:T:A	W74R	1.000
5:62443064:T:C	W74R	1.000
5:62451790:T:A	W125R	1.000
5:62451790:T:C	W125R	1.000
5:62494041:T:A	W503R	1.000
5:62494041:T:C	W503R	1.000
5:62515433:T:A	W610R	1.000
5:62515433:T:C	W610R	1.000
5:62526233:T:C	L663P	1.000
5:62526256:T:A	W671R	1.000
5:62526256:T:C	W671R	1.000
5:62561169:T:A	W832R	1.000
5:62561169:T:C	W832R	1.000
5:62437374:T:C	L32S	0.999
5:62443020:G:C	R59T	0.999
5:62443020:G:T	R59M	0.999
5:62443021:G:C	R59S	0.999
5:62443021:G:T	R59S	0.999
5:62443028:G:C	A62P	0.999
5:62443029:C:A	A62D	0.999
5:62443066:G:C	W74C	0.999
5:62443066:G:T	W74C	0.999
5:62451767:C:A	A117D	0.999
5:62451792:G:C	W125C	0.999
5:62451792:G:T	W125C	0.999
5:62451812:T:C	L132P	0.999
5:62451890:T:C	L158P	0.999
5:62467167:T:A	W185R	0.999
5:62467167:T:C	W185R	0.999
5:62470256:G:C	R219P	0.999

dbSNP variants (sampled 300 via entrez): RS1000008643 (5:62615737 G>A,C), RS1000016558 (5:62441210 T>G), RS1000018489 (5:62562617 G>T), RS1000054572 (5:62611635 A>G), RS1000065607 (5:62445037 G>C), RS1000067836 (5:62435750 C>T), RS1000076044 (5:62531983 A>G), RS1000089674 (5:62600040 T>C), RS1000107721 (5:62606893 C>T), RS1000112908 (5:62590814 C>T), RS1000116544 (5:62483062 A>G,T), RS1000135660 (5:62446392 G>A), RS1000172309 (5:62542644 G>A,T), RS1000175971 (5:62546780 A>G), RS1000187982 (5:62433334 G>A)

Disease associations

OMIM: gene MIM:610889 | disease phenotypes: MIM:236600

GenCC curated gene-disease

Mondo (1): congenital hydrocephalus (MONDO:0016349)

Orphanet (1): Congenital hydrocephalus (Orphanet:2185)

HPO phenotypes

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

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST001769_2	Alcohol and nicotine co-dependence	1.000000e-09
GCST006473_8	Diffusing capacity of the lung for carbon monoxide traits	6.000000e-08
GCST007325_214	General risk tolerance (MTAG)	3.000000e-08
GCST009501_2	Interstitial lung abnormalities	4.000000e-08
GCST009502_4	Subpleural-predominant interstitial lung abnormalities	8.000000e-06
GCST012070_2	Plasma selenium concentration	3.000000e-07
GCST90002392_627	Mean corpuscular volume	1.000000e-09
GCST90002396_302	Mean reticulocyte volume	2.000000e-10
GCST90002397_37	Mean spheric corpuscular volume	5.000000e-11

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0009369	diffusing capacity of the lung for carbon monoxide
EFO:0008579	risk-taking behaviour
EFO:0010701	mean reticulocyte volume

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067259 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
9.09	Kd	0.82	nM	CHEMBL5653589
9.09	ED50	0.82	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 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
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148594: Binding affinity to human IPO11 incubated for 45 mins by Kinobead based pull down assay	kd	0.0008	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression	3
bisphenol A	decreases expression, increases expression	2
Acetaminophen	decreases expression	2
Benzo(a)pyrene	decreases expression	2
Valproic Acid	decreases methylation, increases expression, decreases expression	2
aristolochic acid I	decreases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
triphenyl phosphate	affects expression	1
decabromobiphenyl ether	decreases expression	1
trichostatin A	decreases expression	1
cobaltous chloride	decreases expression	1
tetrabromobisphenol A	decreases expression	1
manganese chloride	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
4-phenylbutyric acid	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Air Pollutants	increases abundance, increases expression	1
Atrazine	decreases expression	1
Calcitriol	decreases expression	1
Coumestrol	increases expression	1
Estradiol	increases expression	1
Ethyl Methanesulfonate	decreases expression	1
Formaldehyde	decreases expression	1
Ivermectin	decreases expression	1
Manganese	decreases expression	1
Methotrexate	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651636	Binding	Binding affinity to human IPO11 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT06664372	Not specified	NOT_YET_RECRUITING	Insertion of Frontal Ventricular Catheter of VP Shunt in Congenital Hydrocephalus Guided by Trans Fontanelle Ultrasound