ILKAP

Summary

ILKAP (ILK associated serine/threonine phosphatase, HGNC:15566) is a protein-coding gene on chromosome 2q37.3, encoding Integrin-linked kinase-associated serine/threonine phosphatase 2C (Q9H0C8). Protein phosphatase that may play a role in regulation of cell cycle progression via dephosphorylation of its substrates whose appropriate phosphorylation states might be crucial for cell proliferation.

The protein encoded by this gene is a protein serine/threonine phosphatase of the PP2C family. This protein can interact with integrin-linked kinase (ILK/ILK1), a regulator of integrin mediated signaling, and regulate the kinase activity of ILK. Through the interaction with ILK, this protein may selectively affect the signaling process of ILK-mediated glycogen synthase kinase 3 beta (GSK3beta), and thus participate in Wnt signaling pathway.

Source: NCBI Gene 80895 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 54 total — 1 pathogenic
• Druggable target: yes
• MANE Select transcript: NM_030768

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15566
Approved symbol	ILKAP
Name	ILK associated serine/threonine phosphatase
Location	2q37.3
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP434J2031, FLJ10181, PPM1O
Ensembl gene	ENSG00000132323
Ensembl biotype	protein_coding
OMIM	618909
Entrez	80895

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 19 protein_coding, 6 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000254654, ENST00000450411, ENST00000457149, ENST00000463129, ENST00000465131, ENST00000466468, ENST00000467133, ENST00000479400, ENST00000490837, ENST00000498727, ENST00000612675, ENST00000622223, ENST00000857599, ENST00000857600, ENST00000857601, ENST00000857602, ENST00000857603, ENST00000857604, ENST00000857605, ENST00000939643, ENST00000939644, ENST00000939645, ENST00000951975, ENST00000951976, ENST00000951977, ENST00000951978

RefSeq mRNA: 1 — MANE Select: NM_030768 NM_030768

CCDS: CCDS2526

Canonical transcript exons

ENST00000254654 — 12 exons

Exon	Start	End
ENSE00000903433	238189853	238189972
ENSE00001893319	238203499	238203695
ENSE00001916220	238170402	238170676
ENSE00003463701	238182065	238182186
ENSE00003503580	238184020	238184113
ENSE00003523184	238188131	238188257
ENSE00003524331	238185181	238185287
ENSE00003607427	238194275	238194331
ENSE00003619352	238173534	238173653
ENSE00003658086	238170943	238171024
ENSE00003680713	238194805	238194870
ENSE00003686798	238183653	238183740

Expression profiles

Bgee: expression breadth ubiquitous, 276 present calls, max score 96.49.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.9657 / max 713.9909, expressed in 1822 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
34756	24.0371	1822
34757	1.3992	958
34754	1.0734	604
34755	0.4560	251

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cerebellar hemisphere	UBERON:0002245	96.49	gold quality
cerebellar cortex	UBERON:0002129	96.43	gold quality
right hemisphere of cerebellum	UBERON:0014890	96.33	gold quality
granulocyte	CL:0000094	95.76	gold quality
mucosa of stomach	UBERON:0001199	95.52	gold quality
muscle layer of sigmoid colon	UBERON:0035805	95.43	gold quality
adenohypophysis	UBERON:0002196	95.39	gold quality
body of uterus	UBERON:0009853	95.32	gold quality
right lobe of thyroid gland	UBERON:0001119	95.30	gold quality
cerebellum	UBERON:0002037	95.29	gold quality
left lobe of thyroid gland	UBERON:0001120	95.25	gold quality
tibial nerve	UBERON:0001323	95.24	gold quality
sural nerve	UBERON:0015488	95.20	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	95.17	gold quality
lower esophagus muscularis layer	UBERON:0035833	95.06	gold quality
lower esophagus	UBERON:0013473	95.05	gold quality
endocervix	UBERON:0000458	94.92	gold quality
skin of abdomen	UBERON:0001416	94.84	gold quality
left uterine tube	UBERON:0001303	94.78	gold quality
left ovary	UBERON:0002119	94.71	gold quality
skin of leg	UBERON:0001511	94.57	gold quality
pituitary gland	UBERON:0000007	94.56	gold quality
right ovary	UBERON:0002118	94.53	gold quality
small intestine Peyer’s patch	UBERON:0003454	94.37	gold quality
thyroid gland	UBERON:0002046	94.35	gold quality
ectocervix	UBERON:0012249	94.35	gold quality
tibial artery	UBERON:0007610	94.20	gold quality
popliteal artery	UBERON:0002250	94.19	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	94.14	gold quality
apex of heart	UBERON:0002098	93.97	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.36

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ELF1

miRNA regulators (miRDB)

6 targeting ILKAP, 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-8485	100.00	77.57	4731
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-4311	99.31	70.47	3041
HSA-MIR-4433A-3P	97.75	62.82	1435
HSA-MIR-4433A-5P	96.79	65.01	599

Literature-anchored findings (GeneRIF, showing 7)

• these results suggested that palladin played a specific role in modulating the subcellular localization of the cytoplasmic ILKAP and promoting the ILKAP-induced apoptosis. (PMID:21782789)
• ILKAP is a nuclear protein that regulates cell survival and apoptosis through the regulation of RSK2 signaling. (PMID:23329845)
• Data show involvement of ANXA5 and ILKAP in susceptibility to malignant melanoma (PMID:24743186)
• The expression of ILKAP was considerably lower in eutopic and ectopic endometrial samples from women with endometriosis than in control endometrium. Expression varied depending on the phase of the menstrual cycle. (PMID:25872452)
• our data suggest an essential role of PINCH1, ILK and ILKAP for the radioresistance of p53-wildtype glioblastoma multiforme cells (PMID:26460618)
• ILKAP physically interacted with HIF-1A and induced its dephosphorylation. Both the HIF-1A-p53 interaction and apoptosis relied on ILKAP. (PMID:29742494)
• ILKAP Promotes the Metastasis of Hepatocellular Carcinoma Cells by Inhibiting beta-Catenin Degradation and Enhancing the WNT Signaling Pathway. (PMID:38379270)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ilkap	ENSDARG00000040615
mus_musculus	Ilkap	ENSMUSG00000026309
rattus_norvegicus	Ilkap	ENSRNOG00000020115
caenorhabditis_elegans		WBGENE00009354

Paralogs (16): PPM1F (ENSG00000100034), TAB1 (ENSG00000100324), PPM1A (ENSG00000100614), PPM1H (ENSG00000111110), PPM1G (ENSG00000115241), PPM1B (ENSG00000138032), PPM1J (ENSG00000155367), PPM1L (ENSG00000163590), PPM1K (ENSG00000163644), PPM1M (ENSG00000164088), PDP1 (ENSG00000164951), PPM1D (ENSG00000170836), PDP2 (ENSG00000172840), PPM1E (ENSG00000175175), PP2D1 (ENSG00000183977), PPM1N (ENSG00000213889)

Protein

Protein identifiers

Integrin-linked kinase-associated serine/threonine phosphatase 2C — Q9H0C8 (reviewed: Q9H0C8)

All UniProt accessions (5): Q9H0C8, E9PC05, F8SNU6, F8SNU7, H7C2I8

UniProt curated annotations — full annotation on UniProt →

Function. Protein phosphatase that may play a role in regulation of cell cycle progression via dephosphorylation of its substrates whose appropriate phosphorylation states might be crucial for cell proliferation. Selectively associates with integrin linked kinase (ILK), to modulate cell adhesion and growth factor signaling. Inhibits the ILK-GSK3B signaling axis and may play an important role in inhibiting oncogenic transformation.

Subunit / interactions. Interacts with ILK. Specific association with ILK is independent of the catalytic activity of either partner.

Subcellular location. Cytoplasm.

Tissue specificity. Widely expressed. Highest levels expressed in striated muscle. Much lower levels evident in various smooth muscle tissues.

Activity regulation. Inhibited rather than stimulated by magnesium.

Cofactor. Binds 2 magnesium or manganese ions per subunit.

Similarity. Belongs to the PP2C family.

RefSeq proteins (1): NP_110395* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000222	PP2C_BS	Binding_site
IPR001932	PPM-type_phosphatase-like_dom	Domain
IPR015655	PP2C	Family
IPR036457	PPM-type-like_dom_sf	Homologous_superfamily

Pfam: PF00481

Catalyzed reactions (Rhea), 2 shown:

• O-phospho-L-seryl-[protein] + H2O = L-seryl-[protein] + phosphate (RHEA:20629)
• O-phospho-L-threonyl-[protein] + H2O = L-threonyl-[protein] + phosphate (RHEA:47004)

UniProt features (17 total): binding site 5, modified residue 3, mutagenesis site 3, compositionally biased region 2, chain 1, domain 1, sequence variant 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H0C8-F1	81.99	0.69

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 (5): 152; 152; 153; 326; 381

Post-translational modifications (3): 1, 13, 210

Mutagenesis-validated functional residues (3):

Position	Phenotype
152	loss of >90% of activity.
154	loss of >90% of activity.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 60 (showing top): GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS, GOMF_PROTEIN_SERINE_THREONINE_PHOSPHATASE_ACTIVITY, GOMF_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY, CASORELLI_ACUTE_PROMYELOCYTIC_LEUKEMIA_DN, CACTGCC_MIR34A_MIR34C_MIR449, GOMF_PHOSPHOPROTEIN_PHOSPHATASE_ACTIVITY, GOMF_PHOSPHATASE_ACTIVITY, ID1_TARGET_GENES, SKIL_TARGET_GENES, MIR8485, MIR4433A_3P, GSE13493_DP_VS_CD4INTCD8POS_THYMOCYTE_UP, GSE1432_CTRL_VS_IFNG_1H_MICROGLIA_UP

GO Biological Process (3): signal transduction (GO:0007165), protein dephosphorylation (GO:0006470), integrin-mediated signaling pathway (GO:0007229)

GO Molecular Function (7): protein serine/threonine phosphatase activity (GO:0004722), metal ion binding (GO:0046872), phosphoprotein phosphatase activity (GO:0004721), protein binding (GO:0005515), kinase activity (GO:0016301), hydrolase activity (GO:0016787), cation binding (GO:0043169)

GO Cellular Component (1): cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
dephosphorylation	1
protein modification process	1
cell surface receptor signaling pathway	1
phosphoprotein phosphatase activity	1
cation binding	1
phosphatase activity	1
catalytic activity, acting on a protein	1
binding	1
transferase activity, transferring phosphorus-containing groups	1
catalytic activity	1
ion binding	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

2034 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ILKAP	ILK	P57043	739
ILKAP	LIMS1	P48059	685
ILKAP	ANK1	P16157	627
ILKAP	GLTPD2	A6NH11	506
ILKAP	FAM131A	Q6UXB0	494
ILKAP	PARVB	Q9HBI1	478
ILKAP	PARVA	Q9NVD7	478
ILKAP	ANK3	Q12955	477
ILKAP	ANK2	Q01484	476
ILKAP	VTA1	Q9NP79	429
ILKAP	CDC42BPA	Q5VT25	428
ILKAP	PHLPP2	Q6ZVD8	427
ILKAP	PPTC7	Q8NI37	427
ILKAP	PARVG	Q9HBI0	412
ILKAP	PPM1J	Q5JR12	410

IntAct

66 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
NDUFS6	NDUFS8	psi-mi:“MI:0914”(association)	0.640
ILKAP	SPRED1	psi-mi:“MI:0915”(physical association)	0.560
SNRNP27	UBA6	psi-mi:“MI:0914”(association)	0.530
ILKAP	ILK	psi-mi:“MI:0915”(physical association)	0.510
ILK	ILKAP	psi-mi:“MI:0915”(physical association)	0.510
ILKAP	MATR3	psi-mi:“MI:0915”(physical association)	0.400
ILKAP	LMTK2	psi-mi:“MI:0915”(physical association)	0.370
ILKAP	AATK	psi-mi:“MI:0915”(physical association)	0.370
ILKAP	ERBB4	psi-mi:“MI:0915”(physical association)	0.370
ILKAP	ERBB2	psi-mi:“MI:0915”(physical association)	0.370
ILKAP	EGFR	psi-mi:“MI:0915”(physical association)	0.370
ILKAP	ERBB3	psi-mi:“MI:0915”(physical association)	0.370
ILKAP	TEK	psi-mi:“MI:0915”(physical association)	0.370
ILKAP	KIT	psi-mi:“MI:0915”(physical association)	0.370
ILKAP	KDR	psi-mi:“MI:0915”(physical association)	0.370
ILKAP	ROR1	psi-mi:“MI:0915”(physical association)	0.370
ILKAP	ROR2	psi-mi:“MI:0915”(physical association)	0.370
ILKAP	MUSK	psi-mi:“MI:0915”(physical association)	0.370
ILKAP	IGF1R	psi-mi:“MI:0915”(physical association)	0.370
ILKAP	PTK7	psi-mi:“MI:0915”(physical association)	0.370
ILKAP	EPHA3	psi-mi:“MI:0915”(physical association)	0.370
ILKAP	EPHA2	psi-mi:“MI:0915”(physical association)	0.370
OTUB1		psi-mi:“MI:0914”(association)	0.350

BioGRID (118): CDK9 (Co-fractionation), CHEK2 (Co-fractionation), ILKAP (Co-fractionation), ILKAP (Co-fractionation), ILKAP (Co-fractionation), ILKAP (Co-fractionation), ILKAP (Co-fractionation), ILKAP (Co-fractionation), ILKAP (Co-fractionation), PAK1 (Co-fractionation), PAK2 (Co-fractionation), SMAD4 (Co-fractionation), ILKAP (Proximity Label-MS), ILKAP (Affinity Capture-MS), ILKAP (Affinity Capture-MS)

ESM2 similar proteins: A0A7U2MSD6, F1LNI5, G0RT93, O15355, O80492, O81716, P34221, P36982, P39966, P40371, P49594, P49595, P49596, P79126, Q09172, Q09173, Q0IIF0, Q0J2R1, Q0JAA0, Q19775, Q29AP0, Q2R637, Q2RBJ6, Q4R4V2, Q4WTH5, Q61074, Q653S3, Q67J17, Q67UP9, Q6ETK3, Q6NKS1, Q6YTI2, Q6Z8B9, Q7XU84, Q8GY60, Q8H4S6, Q8LAY8, Q8R0F6, Q8RXZ4, Q94AT1

Diamond homologs: A0A7U2MSD6, A0BLX0, A0BQL0, A0CUB5, A0DSB3, A0DTY1, A3A8W2, A3A8W6, A3CCP9, A5PJZ2, A6K136, B8NLZ3, G0RT93, O04719, O62829, O62830, O75688, O81716, O88483, P20650, P34221, P35813, P35814, P35815, P35816, P36982, P36993, P39966, P49443, P49444, P49595, P49596, P49597, P49598, P93006, Q09172, Q09173, Q0DBU3, Q0IIF0, Q0JL75

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 79 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
Constitutive Signaling by Aberrant PI3K in Cancer	5	11.5×	2e-03
mRNA Splicing	5	10.0×	3e-03
Processing of Capped Intron-Containing Pre-mRNA	6	9.0×	2e-03
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	5	8.8×	5e-03
PIP3 activates AKT signaling	7	8.5×	8e-04
mRNA Polyadenylation	5	8.0×	8e-03
mRNA Splicing - Major Pathway	8	8.0×	5e-04
RAF/MAP kinase cascade	7	7.8×	1e-03

GO biological processes:

GO term	Partners	Fold	FDR
cell surface receptor protein tyrosine kinase signaling pathway	9	21.4×	3e-07
positive regulation of protein phosphorylation	5	18.9×	7e-04
phosphatidylinositol 3-kinase/protein kinase B signal transduction	6	17.3×	3e-04
epidermal growth factor receptor signaling pathway	5	17.0×	1e-03
protein autophosphorylation	6	11.9×	1e-03
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	9	9.7×	1e-04
positive regulation of MAPK cascade	8	8.8×	4e-04
cell migration	9	7.6×	4e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	31
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1684635	Single allele	Pathogenic

SpliceAI

2215 predictions. Top by Δscore:

Variant	Effect	Δscore
2:238170672:TCATC:T	acceptor_gain	1.0000
2:238170673:CATC:C	acceptor_gain	1.0000
2:238170673:CATCC:C	acceptor_gain	1.0000
2:238170674:ATC:A	acceptor_gain	1.0000
2:238170675:TC:T	acceptor_gain	1.0000
2:238170675:TCC:T	acceptor_loss	1.0000
2:238170676:CC:C	acceptor_gain	1.0000
2:238170677:C:CC	acceptor_gain	1.0000
2:238170678:T:G	acceptor_loss	1.0000
2:238170680:CCAGA:C	acceptor_gain	1.0000
2:238170681:C:T	acceptor_gain	1.0000
2:238170681:CAGA:C	acceptor_gain	1.0000
2:238170682:A:T	acceptor_gain	1.0000
2:238170684:A:AC	acceptor_gain	1.0000
2:238170684:A:C	acceptor_gain	1.0000
2:238170937:TCTCA:T	donor_loss	1.0000
2:238170938:CTCA:C	donor_loss	1.0000
2:238170939:TCACC:T	donor_loss	1.0000
2:238170940:CA:C	donor_loss	1.0000
2:238170941:A:C	donor_loss	1.0000
2:238171020:TGAAC:T	acceptor_gain	1.0000
2:238171022:AACC:A	acceptor_loss	1.0000
2:238171025:C:CA	acceptor_loss	1.0000
2:238171025:C:CC	acceptor_gain	1.0000
2:238171034:C:CT	acceptor_gain	1.0000
2:238173649:CATCC:C	acceptor_gain	1.0000
2:238173652:CC:C	acceptor_gain	1.0000
2:238173653:CC:C	acceptor_gain	1.0000
2:238182051:AGTC:A	donor_gain	1.0000
2:238183646:CACAT:C	donor_loss	1.0000

AlphaMissense

2561 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:238170567:A:T	V383D	1.000
2:238170569:G:C	N382K	1.000
2:238170569:G:T	N382K	1.000
2:238170570:T:A	N382I	1.000
2:238170573:T:A	D381V	1.000
2:238170573:T:G	D381A	1.000
2:238170574:C:G	D381H	1.000
2:238171001:C:T	G327E	1.000
2:238171002:C:A	G327W	1.000
2:238171002:C:G	G327R	1.000
2:238171002:C:T	G327R	1.000
2:238171003:A:C	D326E	1.000
2:238171003:A:T	D326E	1.000
2:238171004:T:A	D326V	1.000
2:238171004:T:G	D326A	1.000
2:238171006:A:C	C325W	1.000
2:238171007:C:A	C325F	1.000
2:238171007:C:T	C325Y	1.000
2:238171008:A:G	C325R	1.000
2:238173570:G:C	P307R	1.000
2:238173570:G:T	P307H	1.000
2:238173582:A:T	V303D	1.000
2:238173585:C:T	G302D	1.000
2:238173593:C:A	K299N	1.000
2:238173593:C:G	K299N	1.000
2:238173595:T:C	K299E	1.000
2:238173605:G:C	D295E	1.000
2:238173605:G:T	D295E	1.000
2:238173606:T:A	D295V	1.000
2:238173606:T:C	D295G	1.000

dbSNP variants (sampled 300 via entrez): RS1000036370 (2:238181200 C>T), RS1000139261 (2:238201967 G>A), RS1000189292 (2:238187109 C>T), RS1000195197 (2:238180891 G>A), RS1000252295 (2:238196497 GATTAC>G), RS1000326154 (2:238192811 G>A), RS1000402938 (2:238190660 T>C), RS1000434126 (2:238190973 G>C), RS1000443057 (2:238179675 C>T), RS1000461950 (2:238192569 G>A,T), RS1000597245 (2:238185664 C>A,T), RS1000661589 (2:238191342 G>A,T), RS1000713740 (2:238201730 G>A), RS1000838811 (2:238186365 A>T), RS1000841425 (2:238179909 T>G)

Disease associations

OMIM: gene MIM:618909 | disease phenotypes: MIM:600430

GenCC curated gene-disease

Mondo (1): 2q37 microdeletion syndrome (MONDO:0010886)

Orphanet (1): 2q37 microdeletion syndrome (Orphanet:1001)

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST001414_2	Phospholipid levels (plasma)	2.000000e-08
GCST004602_97	Mean corpuscular volume	1.000000e-09
GCST004621_54	Red cell distribution width	5.000000e-10
GCST004630_110	Mean corpuscular hemoglobin	2.000000e-15
GCST010083_40	Hemoglobin levels	3.000000e-09

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0009188	Red cell distribution width
EFO:0004527	mean corpuscular hemoglobin
EFO:0004509	hemoglobin measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C538317	Chromosome 2q37 deletion syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2290 (SINGLE PROTEIN)

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs113095083	Efficacy	3	hydrochlorothiazide	Essential hypertension

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs113095083	ILKAP	3	0.00	1	hydrochlorothiazide

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases expression, increases methylation	2
Valproic Acid	affects expression, increases expression	2
GSK-J4	increases expression	1
FR900359	increases phosphorylation	1
bisphenol A	decreases expression	1
sodium arsenite	decreases expression	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
CGP 52608	increases reaction, affects binding	1
abrine	increases expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Arsenic Trioxide	affects binding, decreases reaction	1
Air Pollutants	decreases expression, increases abundance	1
Caffeine	decreases phosphorylation	1
Daunorubicin	affects response to substance	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Ivermectin	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Silicon Dioxide	increases expression	1
Tretinoin	decreases expression	1
Cyclosporine	increases expression	1
Okadaic Acid	increases expression	1
Particulate Matter	decreases 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
CHEMBL5697273	Binding	Inhibition of ILKAP (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature

Cellosaurus cell lines

3 cell lines: 2 cancer cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2ZB	Abcam HEK293T ILKAP KO	Transformed cell line	Female
CVCL_SS51	HAP1 ILKAP (-) 1	Cancer cell line	Male
CVCL_SS52	HAP1 ILKAP (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01238250	Not specified	RECRUITING	Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight