CILK1

Summary

CILK1 (ciliogenesis associated kinase 1, HGNC:21219) is a protein-coding gene on chromosome 6p12.1, encoding Serine/threonine-protein kinase ICK (Q9UPZ9). Required for ciliogenesis.

Eukaryotic protein kinases are enzymes that belong to a very extensive family of proteins which share a conserved catalytic core common with both serine/threonine and tyrosine protein kinases. This gene encodes an intestinal serine/threonine kinase harboring a dual phosphorylation site found in mitogen-activating protein (MAP) kinases. The protein localizes to the intestinal crypt region and is thought to be important in intestinal epithelial cell proliferation and differentiation. Alternative splicing has been observed at this locus and two variants, encoding the same isoform, have been identified.

Source: NCBI Gene 22858 — RefSeq curated summary.

At a glance

• Gene–disease (curated): endocrine-cerebro-osteodysplasia syndrome (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 289 total — 6 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 153
• Druggable target: yes — 24 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_014920

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21219
Approved symbol	CILK1
Name	ciliogenesis associated kinase 1
Location	6p12.1
Locus type	gene with protein product
Status	Approved
Aliases	MRK, LCK2, KIAA0936, MGC46090
Ensembl gene	ENSG00000112144
Ensembl biotype	protein_coding
OMIM	612325
Entrez	22858

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000350082, ENST00000356971, ENST00000676107

RefSeq mRNA: 8 — MANE Select: NM_014920 NM_001375397, NM_001375398, NM_001375399, NM_001375400, NM_001375401, NM_001375402, NM_014920, NM_016513

CCDS: CCDS4949, CCDS93933

Canonical transcript exons

ENST00000676107 — 14 exons

Exon	Start	End
ENSE00000756474	53006315	53006437
ENSE00000756475	53009439	53009567
ENSE00000756477	53011769	53011917
ENSE00000756482	53013662	53013982
ENSE00000756486	53018330	53018501
ENSE00000756492	53031065	53031144
ENSE00001015626	53041136	53041408
ENSE00001211685	53037939	53037993
ENSE00001317688	53016083	53016250
ENSE00001384446	53012037	53012227
ENSE00001987039	53019227	53019359
ENSE00001989211	53032533	53032654
ENSE00003900408	53001303	53005303
ENSE00003904073	53061596	53061824

Expression profiles

Bgee: expression breadth ubiquitous, 268 present calls, max score 90.93.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.3682 / max 111.9818, expressed in 1743 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
73987	11.5064	1737
73985	0.4706	258
73986	0.3912	210

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	90.93	gold quality
palpebral conjunctiva	UBERON:0001812	89.41	gold quality
cortical plate	UBERON:0005343	88.99	gold quality
left adrenal gland	UBERON:0001234	87.21	gold quality
left adrenal gland cortex	UBERON:0035825	86.87	gold quality
right adrenal gland cortex	UBERON:0035827	86.47	gold quality
adrenal gland	UBERON:0002369	86.45	gold quality
right adrenal gland	UBERON:0001233	86.04	gold quality
adrenal cortex	UBERON:0001235	85.76	gold quality
ganglionic eminence	UBERON:0004023	85.25	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	84.49	gold quality
nasal cavity mucosa	UBERON:0001826	83.75	gold quality
rectum	UBERON:0001052	82.64	gold quality
placenta	UBERON:0001987	82.37	gold quality
calcaneal tendon	UBERON:0003701	81.63	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	81.10	gold quality
epithelium of nasopharynx	UBERON:0001951	81.06	gold quality
upper leg skin	UBERON:0004262	80.62	gold quality
mucosa of paranasal sinus	UBERON:0005030	80.10	gold quality
muscle layer of sigmoid colon	UBERON:0035805	80.02	gold quality
ventricular zone	UBERON:0003053	79.83	gold quality
tendon	UBERON:0000043	79.69	gold quality
lower lobe of lung	UBERON:0008949	79.68	gold quality
popliteal artery	UBERON:0002250	79.44	gold quality
tibial artery	UBERON:0007610	79.44	gold quality
amniotic fluid	UBERON:0000173	79.23	gold quality
spinal cord	UBERON:0002240	79.15	gold quality
mucosa of stomach	UBERON:0001199	79.14	gold quality
lower esophagus muscularis layer	UBERON:0035833	78.98	gold quality
lower esophagus	UBERON:0013473	78.97	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.24
E-GEOD-100618	no	742.84

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

203 targeting CILK1, 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-3613-3P	100.00	76.36	7965
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-12136	99.98	72.81	5713

Literature-anchored findings (GeneRIF, showing 20)

• ICK is the prototype for a new group of MAPK-like kinases requiring dual phosphorylation at TDY motifs. (PMID:15988018)
• PP5 (protein phosphatase 5)and CCRK (cell cycle-related kinase) are yin-yang regulators of T157 phosphorylation. ICK interacts with and phosphorylates human Scythe, an essential regulator of proliferation and apoptosis during mammalian development. (PMID:16954377)
• ICK may play a role in the development of multiple organ systems. R272Q has been associated with endocrine-cerebro-osteodysplasia and may explain loss of function since the R272Q mutant fails to localize at the nucleus and has diminished kinase activity (PMID:19185282)
• Findings demonstrate an important role for ICK in proliferation and differentiation of intestinal epithelial cells. (PMID:19696144)
• ICK plays an important role in the regulation of proliferation and differentiation of intestinal epithelial cells. ICK may control G1 cell cycle progression by regulating expression of cell cycle regulators cyclin D1, c-Myc and p21Cip1. (PMID:19696144)
• ICK and FBX9 are divergently transcribed from a bidirectional promoter that is GC-rich and contains a CpG island. (PMID:20459822)
• an important role for ICK in modulating the activity of mTORC1 through phosphorylation of Raptor Thr-908. (PMID:22356909)
• High ICK expression is associated with prostate cancer. (PMID:22761715)
• In glioblastoma cells with deregulated high levels of CCRK, its depletion restores cilia through ICK and an ICK-related kinase MAK, thereby inhibiting glioblastoma cell proliferation. (PMID:23743448)
• the expressions of ICK/MAK/MOK proteins in the intestinal tract can be differentially and dynamically regulated, implicating a significant functional diversity within this group of protein kinases. (PMID:24244486)
• findings suggest that increased ICK expression/activity in response to protein deprivation likely provides a novel protective mechanism to limit apoptosis and support compensatory mucosal growth under nutritional stress. (PMID:25184386)
• These data identify ICK as an short rib polydactyly syndromes (SRPS)-associated gene and reveal that abnormalities in signalling pathways contribute to defective skeletogenesis (PMID:27466187)
• Our data provide evidence that heterozygous variants in ICK caused juvenile myoclonic epilepsy in 7% of the patients included in our analysis. Variant ICK affects cell processes that help explain microdysgenesis and polyspike networks observed on EEG in juvenile myoclonic epilepsy. (PMID:29539279)
• Study demonstrates that human ICK (intestinal cell kinase) that authors herein call CAPK (ciliopathy-associated protein kinase) interacts with human KIF3A and phosphorylates a conserved site Thr672 both in vitro and in vivo. Long, unstructured, non-catalytic carboxyl-terminal domain (CTD) of CAPK is required for this interaction with and phosphorylation of KIF3A. (PMID:31277411)
• Previously known as intestinal cell kinase because it was cloned from that origin, CILK1 is now recognized as a widely expressed and highly conserved. Mutations in the human CILK1 gene have been associated with ciliopathies. Thus, CILK1 has a fundamental role in the function of the cilium. Several candidate substrates have been proposed for CILK1. [review] (PMID:31506943)
• Functional Alterations in Ciliogenesis-Associated Kinase 1 (CILK1) that Result from Mutations Linked to Juvenile Myoclonic Epilepsy. (PMID:32178256)
• Anterograde trafficking of ciliary MAP kinase-like ICK/CILK1 by the intraflagellar transport machinery is required for intraciliary retrograde protein trafficking. (PMID:32732286)
• BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1. (PMID:35609210)
• The Scaffold Protein KATNIP Enhances CILK1 Control of Primary Cilia. (PMID:37665596)
• Ciliogenesis-associated Kinase 1 Promotes Breast Cancer Cell Proliferation and Chemoresistance via Phosphorylating ERK1. (PMID:38725848)

Cross-species orthologs

13 orthologs

Organism	Symbol	Gene ID
mus_musculus	Cilk1	ENSMUSG00000009828
rattus_norvegicus	Cilk1	ENSRNOG00000008691
drosophila_melanogaster	nmo	FBGN0011817
drosophila_melanogaster	CG8565	FBGN0030697
drosophila_melanogaster	SRPK	FBGN0286813
caenorhabditis_elegans		WBGENE00002187
caenorhabditis_elegans		WBGENE00002188
caenorhabditis_elegans		WBGENE00003048
caenorhabditis_elegans		WBGENE00004055
caenorhabditis_elegans		WBGENE00004056
caenorhabditis_elegans		WBGENE00004980
caenorhabditis_elegans	gskl-2	WBGENE00007977
caenorhabditis_elegans	Y106G6E.1	WBGENE00013705

Paralogs (19): MAPK9 (ENSG00000050748), MAPK6 (ENSG00000069956), MOK (ENSG00000080823), NLK (ENSG00000087095), SRPK1 (ENSG00000096063), MAPK1 (ENSG00000100030), MAPK3 (ENSG00000102882), MAPK8 (ENSG00000107643), MAPK10 (ENSG00000109339), MAK (ENSG00000111837), MAPK14 (ENSG00000112062), SRPK2 (ENSG00000135250), MAPK4 (ENSG00000141639), MAPK13 (ENSG00000156711), MAPK7 (ENSG00000166484), MAPK15 (ENSG00000181085), SRPK3 (ENSG00000184343), MAPK11 (ENSG00000185386), MAPK12 (ENSG00000188130)

Protein

Protein identifiers

Serine/threonine-protein kinase ICK — Q9UPZ9 (reviewed: Q9UPZ9)

Alternative names: Ciliogenesis associated kinase 1, Intestinal cell kinase, Laryngeal cancer kinase 2, MAK-related kinase

All UniProt accessions (2): Q9UPZ9, A0A7I2PIU1

UniProt curated annotations — full annotation on UniProt →

Function. Required for ciliogenesis. Phosphorylates KIF3A. Involved in the control of ciliary length. Regulates the ciliary localization of SHH pathway components as well as the localization of IFT components at ciliary tips. May play a key role in the development of multiple organ systems and particularly in cardiac development. Regulates intraflagellar transport (IFT) speed and negatively regulates cilium length in a cAMP and mTORC1 signaling-dependent manner and this regulation requires its kinase activity.

Subcellular location. Nucleus. Cytoplasm. Cytosol. Cell projection. Cilium. Cytoskeleton. Cilium basal body Cytoplasm.

Tissue specificity. Expressed in heart, brain, placenta, pancreas, thymus, prostate, testis, ovary, small intestine and colon, with highest levels in placenta and testis. Not detected in spleen. Also expressed in many cancer cell lines.

Post-translational modifications. Autophosphorylated on serine and threonine residues. Phosphorylation at Thr-157 increases kinase activity.

Disease relevance. Endocrine-cerebroosteodysplasia (ECO) [MIM:612651] Previously unidentified neonatal lethal recessive disorder with multiple anomalies involving the endocrine, cerebral, and skeletal systems. The disease is caused by variants affecting the gene represented in this entry. Juvenile myoclonic epilepsy 10 (EJM10) [MIM:617924] A form of juvenile myoclonic epilepsy, a subtype of idiopathic generalized epilepsy generally characterized by afebrile seizures with onset in adolescence (rather than in childhood) and myoclonic jerks, which usually occur after awakening and are triggered by sleep deprivation and fatigue. EJM10 is an autosomal dominant seizure disorder with variable manifestations, even within families. Affected individuals have febrile, myoclonic, tonic-clonic, or absence seizures, although several seizure types can occur in the same individual. Some patients have onset of seizures in the first years of life. The disease is caused by variants affecting the gene represented in this entry. Cranioectodermal dysplasia 6 (CED6) [MIM:621337] A form of cranioectodermal dysplasia, a disorder primarily characterized by craniofacial, skeletal and ectodermal abnormalities. CED6 is an autosomal recessive form characterized by dolichocephaly, relative macrocephaly due to external hydrocephalus, dysmorphic facial features, growth retardation, skeletal anomalies, joint laxity, sparse hair, sparse eyebrows and eyelashes, and dental abnormalities. Renal and hepatic abnormalities have also been observed. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UPZ9-1	1	yes
Q9UPZ9-2	2

RefSeq proteins (8): NP_001362326, NP_001362327, NP_001362328, NP_001362329, NP_001362330, NP_001362331, NP_055735, NP_057597 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000719	Prot_kinase_dom	Domain
IPR008271	Ser/Thr_kinase_AS	Active_site
IPR011009	Kinase-like_dom_sf	Homologous_superfamily
IPR017441	Protein_kinase_ATP_BS	Binding_site
IPR050117	MAPK	Family

Pfam: PF00069

Catalyzed reactions (Rhea), 2 shown:

• L-seryl-[protein] + ATP = O-phospho-L-seryl-[protein] + ADP + H(+) (RHEA:17989)
• L-threonyl-[protein] + ATP = O-phospho-L-threonyl-[protein] + ADP + H(+) (RHEA:46608)

UniProt features (39 total): sequence variant 12, mutagenesis site 6, sequence conflict 5, modified residue 3, region of interest 3, compositionally biased region 3, binding site 2, splice variant 2, chain 1, domain 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UPZ9-F1	61.47	0.33

Functional residue map

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

Catalytic / active sites (1): 125 (proton acceptor)

Ligand- & substrate-binding residues (2): 33; 10–18

Post-translational modifications (3): 157, 159, 161

Mutagenesis-validated functional residues (6):

Position	Phenotype
33	loss of activity and autophosphorylation; when associated with r-34; r-36 and r-38.
34	loss of activity and autophosphorylation; when associated with r-33; r-36 and r-38.
36	loss of activity and autophosphorylation; when associated with r-33; r-34 and r-38.
38	loss of activity and autophosphorylation; when associated with r-33; r-34 and r-36.
157	reduction of activity and loss of autophosphorylation. loss of activity and autophosphorylation; when associated with f-
159	reduction of activity and loss of autophosphorylation. loss of activity and autophosphorylation; when associated with a-

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 397 (showing top): AP1_01, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, TATTATA_MIR374, GOCC_MICROTUBULE_ORGANIZING_CENTER, FOXD3_01, chr6p12, GOBP_CILIUM_ORGANIZATION, BACH2_01, FOXJ2_01, HFH4_01, HFH3_01, GOBP_ORGANELLE_ASSEMBLY, ONDER_CDH1_TARGETS_2_UP, HFH1_01

GO Biological Process (8): protein phosphorylation (GO:0006468), signal transduction (GO:0007165), intracellular signal transduction (GO:0035556), intraciliary anterograde transport (GO:0035720), intraciliary retrograde transport (GO:0035721), intraciliary transport (GO:0042073), cilium assembly (GO:0060271), cell projection organization (GO:0030030)

GO Molecular Function (10): magnesium ion binding (GO:0000287), protein kinase activity (GO:0004672), protein serine/threonine kinase activity (GO:0004674), ATP binding (GO:0005524), protein serine kinase activity (GO:0106310), nucleotide binding (GO:0000166), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (9): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), cilium (GO:0005929), ciliary basal body (GO:0036064), ciliary tip (GO:0097542), ciliary base (GO:0097546), cytoskeleton (GO:0005856), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
cilium	4
intracellular anatomical structure	2
intraciliary transport	2
cilium organization	2
protein kinase activity	2
phosphorylation	1
protein modification process	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
signal transduction	1
transport along microtubule	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
cellular component organization	1
metal ion binding	1
kinase activity	1
phosphotransferase activity, alcohol group as acceptor	1
catalytic activity, acting on a protein	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
transferase activity, transferring phosphorus-containing groups	1
catalytic activity	1
cation binding	1
intracellular membrane-bounded organelle	1
cytoplasm	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

1165 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CILK1	CCNL2	Q96S94	865
CILK1	GSTA1	P08263	714
CILK1	MAGEA1	P43355	634
CILK1	GSTA3	Q16772	548
CILK1	GSTA5	Q7RTV2	511
CILK1	EFHC1	Q5JVL4	509
CILK1	GSTA4	O15217	499
CILK1	DYNC2LI1	Q8TCX1	475
CILK1	CDC37	Q16543	464
CILK1	IFT88	Q13099	461
CILK1	MBP	P02686	457
CILK1	WDR19	Q8NEZ3	448
CILK1	DYNC2I2	Q96EX3	447
CILK1	CDK2	P24941	440
CILK1	KIF3A	Q9Y496	440

IntAct

41 interactions, top by confidence:

A	B	Type	Score
CDK1	CCNB2	psi-mi:“MI:0914”(association)	0.840
KATNIP	MAK	psi-mi:“MI:0914”(association)	0.730
CILK1	SMYD2	psi-mi:“MI:0915”(physical association)	0.660
CILK1	HSP90AB1	psi-mi:“MI:0915”(physical association)	0.640
CILK1	FKBP5	psi-mi:“MI:0914”(association)	0.620
CILK1	FKBP5	psi-mi:“MI:0915”(physical association)	0.620
CDK16	CDK17	psi-mi:“MI:0914”(association)	0.620
A4GNT	POTEF	psi-mi:“MI:0914”(association)	0.530
FAM217B	NCK2	psi-mi:“MI:0914”(association)	0.530
CKS1B	GMNN	psi-mi:“MI:0914”(association)	0.530
CDK1	GMNN	psi-mi:“MI:0914”(association)	0.530
CILK1	SPTAN1	psi-mi:“MI:0915”(physical association)	0.400
NR0B2	CILK1	psi-mi:“MI:0915”(physical association)	0.400
CILK1	SMAD1	psi-mi:“MI:0915”(physical association)	0.370
KATNIP		psi-mi:“MI:0914”(association)	0.350
CILK1	MAST4	psi-mi:“MI:0914”(association)	0.350
BMP7	VWA8	psi-mi:“MI:0914”(association)	0.350
A4GALT	VPS37C	psi-mi:“MI:0914”(association)	0.350
LSM14B	PSMD9	psi-mi:“MI:0914”(association)	0.350
IL1R1	TNFRSF10B	psi-mi:“MI:0914”(association)	0.350
ZBTB44	WDR46	psi-mi:“MI:0914”(association)	0.350
FCGR3B	NRP2	psi-mi:“MI:0914”(association)	0.350
CDK14	FGR	psi-mi:“MI:0914”(association)	0.350
TMEM45A	MYH1	psi-mi:“MI:0914”(association)	0.350
CENPL	RPL13	psi-mi:“MI:0914”(association)	0.350
MSI2	ANXA13	psi-mi:“MI:0914”(association)	0.350
CDK16	BRCA1	psi-mi:“MI:0914”(association)	0.350
DEPDC1	SAPCD2	psi-mi:“MI:0914”(association)	0.350
SLC35A1	ACBD3	psi-mi:“MI:0914”(association)	0.350

BioGRID (111): ICK (Affinity Capture-MS), ICK (Affinity Capture-MS), ICK (Affinity Capture-MS), ICK (Affinity Capture-MS), ICK (Affinity Capture-MS), ICK (Affinity Capture-MS), ICK (Affinity Capture-MS), ICK (Affinity Capture-MS), ICK (Affinity Capture-MS), ICK (Affinity Capture-MS), ICK (Affinity Capture-MS), ICK (Affinity Capture-MS), ICK (Synthetic Growth Defect), ICK (Reconstituted Complex), ICK (Affinity Capture-MS)

ESM2 similar proteins: A0A078CGE6, A2VDZ4, A2ZMH2, A7SNN5, B0WAU8, B2GUY1, B3DL84, B3M6I4, B3NE99, B4HBU3, B4IAQ8, B4J3F1, B4KYX8, B4LDJ6, B4MXR8, B4PDM5, B4QK53, F4IRW0, F4JY37, O00444, O13839, O97143, P0CP71, P13185, P13186, P22987, Q03407, Q09690, Q0WPH8, Q16W24, Q19469, Q2LYK3, Q2QMH1, Q5B4Z3, Q5R9Z7, Q60DG4, Q621J7, Q64702, Q6PAD2, Q6T8E9

Diamond homologs: A0A509AH51, A0QNG1, A3B529, A3LUB9, A5D791, A6ZU08, A7E3S4, A8X0C4, A8XSC1, D0Z5N4, D4A7V9, E2QWQ2, O19004, P00531, P00532, P04049, P04627, P05625, P07527, P0CS76, P0CS77, P10398, P11345, P14056, P17157, P19525, P27636, P32490, P33279, P34331, P38990, P41676, P43637, P50750, P52304, P53351, P54666, Q03957, Q03963, Q04770

SIGNOR signaling

8 interactions.

A	Effect	B	Mechanism
CDK20	up-regulates	CILK1	phosphorylation
CILK1	up-regulates	CILK1	phosphorylation
PPP2CA	down-regulates	CILK1	dephosphorylation
CILK1	up-regulates	RPTOR	phosphorylation
CILK1	up-regulates	mTORC1	phosphorylation
PPP5C	“down-regulates activity”	CILK1	dephosphorylation
FGFR3	“down-regulates activity”	CILK1	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 52 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
G2/M Checkpoints	5	19.2×	2e-03
Cell Cycle Checkpoints	5	12.7×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	6
Likely pathogenic	3
Uncertain significance	140
Likely benign	90
Benign	18

Top pathogenic / likely-pathogenic (9)

Variant ID	HGVS	Classification
147999	GRCh38/hg38 6p12.3-12.1(chr6:51093754-53859634)x4	Pathogenic
2685203	GRCh37/hg19 6p12.3-12.1(chr6:50181657-55538355)x1	Pathogenic
3366972	NM_014920.5(CILK1):c.1664_1665del (p.Tyr555fs)	Pathogenic
4082157	CILK1, GLU80LYS	Pathogenic
625143	NM_014920.5(CILK1):c.358G>T (p.Gly120Cys)	Pathogenic
640	NM_014920.5(CILK1):c.815G>A (p.Arg272Gln)	Pathogenic
4526597	NM_014920.5(CILK1):c.-172-1G>A	Likely pathogenic
617858	NM_014920.5(CILK1):c.238G>A (p.Glu80Lys)	Likely pathogenic
809947	NM_014920.5(CILK1):c.814C>T (p.Arg272Ter)	Likely pathogenic

SpliceAI

2118 predictions. Top by Δscore:

Variant	Effect	Δscore
6:53005300:TAAC:T	acceptor_gain	1.0000
6:53006433:ACCAA:A	acceptor_gain	1.0000
6:53006434:CCAA:C	acceptor_gain	1.0000
6:53006434:CCAAC:C	acceptor_gain	1.0000
6:53006435:CAA:C	acceptor_gain	1.0000
6:53006435:CAAC:C	acceptor_gain	1.0000
6:53006438:C:CC	acceptor_gain	1.0000
6:53006438:C:T	acceptor_loss	1.0000
6:53006443:T:C	acceptor_gain	1.0000
6:53006443:T:TC	acceptor_gain	1.0000
6:53006446:C:CT	acceptor_gain	1.0000
6:53011918:CTGA:C	acceptor_loss	1.0000
6:53011919:T:A	acceptor_loss	1.0000
6:53013661:CCGA:C	donor_gain	1.0000
6:53016086:A:AC	donor_gain	1.0000
6:53016087:C:CC	donor_gain	1.0000
6:53016087:CTAG:C	donor_gain	1.0000
6:53016090:G:C	donor_gain	1.0000
6:53016247:CAGT:C	acceptor_gain	1.0000
6:53016251:C:CC	acceptor_gain	1.0000
6:53032532:CCT:C	donor_gain	1.0000
6:53032532:CCTCT:C	donor_gain	1.0000
6:53032655:C:CC	acceptor_gain	1.0000
6:53037994:C:CC	acceptor_gain	1.0000
6:53041131:CTTA:C	donor_gain	1.0000
6:53041132:TTA:T	donor_loss	1.0000
6:53041133:TA:T	donor_loss	1.0000
6:53041134:A:AC	donor_gain	1.0000
6:53041135:C:CT	donor_gain	1.0000
6:53041135:CT:C	donor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000034089 (6:53028530 C>T), RS1000044763 (6:53056742 A>G), RS1000067930 (6:53017433 G>C), RS1000081108 (6:53009841 T>G), RS1000088890 (6:53035199 T>C), RS1000132330 (6:53015435 G>A), RS1000134439 (6:53002493 A>G), RS1000208399 (6:53002801 C>T), RS1000214563 (6:53010063 C>T), RS1000249790 (6:53050294 C>T), RS1000266556 (6:53042140 A>G), RS1000338737 (6:53049560 T>C), RS1000360509 (6:53043136 T>C), RS1000486975 (6:53002949 A>C,G), RS1000523537 (6:53035683 G>A)

Disease associations

OMIM: gene MIM:612325 | disease phenotypes: MIM:612651, MIM:617924, MIM:218330, MIM:621337

GenCC curated gene-disease

Disease	Classification	Inheritance
endocrine-cerebro-osteodysplasia syndrome	Strong	Autosomal recessive
juvenile myoclonic epilepsy	Supportive	Autosomal dominant

Mondo (8): endocrine-cerebro-osteodysplasia syndrome (MONDO:0012980), epilepsy, juvenile myoclonic, susceptibility to, 10 (MONDO:0060671), cranioectodermal dysplasia (MONDO:0009032), cranioectodermal dysplasia 6 (MONDO:0979883), short rib-polydactyly syndrome (MONDO:0015461), coloboma (MONDO:0001476), microphthalmia (MONDO:0021129), juvenile myoclonic epilepsy (MONDO:0009696)

Orphanet (4): Endocrine-cerebro-osteodysplasia syndrome (Orphanet:199332), Cranioectodermal dysplasia (Orphanet:1515), Short rib-polydactyly syndrome (Orphanet:1505), OBSOLETE: Ocular coloboma (Orphanet:194)

HPO phenotypes

153 total (30 of 153 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000046	Small scrotum
HP:0000047	Hypospadias
HP:0000062	Ambiguous genitalia
HP:0000103	Polyuria
HP:0000105	Enlarged kidney
HP:0000107	Renal cyst
HP:0000153	Abnormality of the mouth
HP:0000161	Median cleft upper lip
HP:0000215	Thick upper lip vermilion
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000260	Wide anterior fontanel
HP:0000268	Dolichocephaly
HP:0000293	Full cheeks
HP:0000316	Hypertelorism
HP:0000347	Micrognathia
HP:0000348	High forehead
HP:0000369	Low-set ears
HP:0000431	Wide nasal bridge
HP:0000437	Depressed nasal tip
HP:0000490	Deeply set eye
HP:0000496	Abnormality of eye movement
HP:0000506	Telecanthus
HP:0000545	Myopia
HP:0000556	Retinal dystrophy
HP:0000601	Hypotelorism
HP:0000639	Nystagmus

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST003181_5	Staphylococcus aureus nasal carriage (intermittent)	9.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007758	intermittent Staphylococcus aureus carrier status

MeSH disease descriptors (5)

Descriptor	Name	Tree numbers
D003103	Coloboma	C11.250.110; C11.270.147; C16.131.384.282
D008850	Microphthalmos	C11.250.566; C16.131.384.666
D020190	Myoclonic Epilepsy, Juvenile	C10.228.140.490.375.130.670; C10.228.140.490.493.063.670
D012779	Short Rib-Polydactyly Syndrome	C05.116.099.708.857; C05.660.585.600.750; C16.131.077.850; C16.131.621.585.600.750
C567210	Endocrine-Cerebroosteodysplasia (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL1163126 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

24 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 158,105 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1078178	MOMELOTINIB	4	3,481
CHEMBL1287853	FEDRATINIB	4	3,554
CHEMBL2035187	PACRITINIB	4	3,345
CHEMBL3301610	ABEMACICLIB	4	7,045
CHEMBL502835	NINTEDANIB	4	8,545
CHEMBL535	SUNITINIB	4	79,020
CHEMBL608533	MIDOSTAURIN	4	7,259
CHEMBL2103840	DINACICLIB	3	2,257
CHEMBL300138	ENZASTAURIN	3	3,209
CHEMBL428690	ALVOCIDIB	3	27,781
CHEMBL603469	LESTAURTINIB	3
CHEMBL91829	RUBOXISTAURIN	3	77
CHEMBL1230165	SILMITASERTIB	2	593
CHEMBL1721885	SU-014813	2	363
CHEMBL384304	RG-547	2	93
CHEMBL445813	AT-7519	2	2,614
CHEMBL521851	PICTILISIB	2	6,071
CHEMBL564829	MILCICLIB	2	821
CHEMBL565612	SOTRASTAURIN	2	1,355
CHEMBL1908397	KW-2449	1	622
CHEMBL296468	BMS-387032	1
CHEMBL3128043	PF-03758309	1
CHEMBL3545083	RGB-286638	1
CHEMBL574738	AST-487	1

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

GtoPdb / IUPHAR curated pharmacology

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

Target class: enzyme — RCK family

ChEMBL bioactivities

43 potent at pChembl≥5 of 43 total, top 41 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
9.16	Kd	0.69	nM	ALVOCIDIB
8.66	Kd	2.2	nM	RG-547
8.10	Kd	8	nM	RGB-286638
8.08	Kd	8.3	nM	AT-7519
7.80	Kd	16	nM	STAUROSPORINE
7.70	Kd	19.79	nM	CHEMBL5653589
7.54	ED50	29.2	nM	CHEMBL5653589
7.53	Kd	29.32	nM	CHEMBL3752910
7.41	IC50	38.6	nM	STAUROSPORINE
7.41	Kd	39	nM	LESTAURTINIB
7.39	IC50	41.06	nM	STAUROSPORINE
7.36	ED50	43.26	nM	CHEMBL3752910
7.34	IC50	45.4	nM	STAUROSPORINE
7.28	Kd	53	nM	ABEMACICLIB
7.27	IC50	53.3	nM	STAUROSPORINE
6.82	Kd	150	nM	BMS-387032
6.62	Kd	237	nM	PF-03758309
6.62	Kd	240	nM	RUBOXISTAURIN
6.57	Kd	270	nM	PACRITINIB
6.57	Kd	271	nM	DINACICLIB
6.40	Kd	400	nM	PHA-665752
6.33	Kd	470	nM	SUNITINIB
6.26	Kd	550	nM	CHEMBL379218
6.17	Kd	680	nM	ENZASTAURIN
6.14	Kd	720	nM	MOMELOTINIB
6.06	Kd	863	nM	MILCICLIB
6.05	Kd	892	nM	CHEMBL3991935
6.05	Kd	884	nM	SILMITASERTIB
6.00	IC50	1000	nM	TP-030-1
6.00	IC50	1000	nM	TP-030-2
6.00	IC50	1000	nM	TP-030n
5.92	Kd	1200	nM	SU-014813
5.77	Kd	1700	nM	NINTEDANIB
5.72	Kd	1900	nM	FEDRATINIB
5.66	Kd	2200	nM	KW-2449
5.62	IC50	2390	nM	CHEMBL4455382
5.60	Kd	2500	nM	AST-487
5.40	Kd	4000	nM	TAE-684
5.23	Kd	5900	nM	MIDOSTAURIN
5.17	Kd	6689	nM	SOTRASTAURIN
5.03	Kd	9300	nM	PICTILISIB

PubChem BioAssay actives

37 with measured affinity, of 391 total; 31 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
2-(2-chlorophenyl)-5,7-dihydroxy-8-[(3S,4R)-3-hydroxy-1-methylpiperidin-4-yl]chromen-4-one	625090: Binding constant for ICK kinase domain	kd	0.0007	uM
[4-amino-2-[(1-methylsulfonylpiperidin-4-yl)amino]pyrimidin-5-yl]-(2,3-difluoro-6-methoxyphenyl)methanone	625090: Binding constant for ICK kinase domain	kd	0.0022	uM
1-[3-[4-[[4-(2-methoxyethyl)piperazin-1-yl]methyl]phenyl]-4-oxo-1H-indeno[2,1-d]pyrazol-5-yl]-3-morpholin-4-ylurea	1425021: Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by mass spectrometry.	kd	0.0080	uM
4-[(2,6-dichlorobenzoyl)amino]-N-piperidin-4-yl-1H-pyrazole-5-carboxamide	625090: Binding constant for ICK kinase domain	kd	0.0083	uM
(2S,3R,4R,6R)-3-methoxy-2-methyl-4-(methylamino)-29-oxa-1,7,17-triazaoctacyclo[12.12.2.12,6.07,28.08,13.015,19.020,27.021,26]nonacosa-8,10,12,14,19,21,23,25,27-nonaen-16-one	625090: Binding constant for ICK kinase domain	kd	0.0160	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148567: Binding affinity to human ICK incubated for 45 mins by Kinobead based pull down assay	kd	0.0198	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148567: Binding affinity to human ICK incubated for 45 mins by Kinobead based pull down assay	kd	0.0293	uM
(15S,16S,18R)-16-hydroxy-16-(hydroxymethyl)-15-methyl-28-oxa-4,14,19-triazaoctacyclo[12.11.2.115,18.02,6.07,27.08,13.019,26.020,25]octacosa-1,6,8,10,12,20,22,24,26-nonaen-3-one	507975: Binding affinity to ICK	kd	0.0390	uM
Abemaciclib	1425021: Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by mass spectrometry.	kd	0.0530	uM
N-[5-[(5-tert-butyl-1,3-oxazol-2-yl)methylsulfanyl]-1,3-thiazol-2-yl]piperidine-4-carboxamide	625090: Binding constant for ICK kinase domain	kd	0.1500	uM
N-[(1S)-2-(dimethylamino)-1-phenylethyl]-6,6-dimethyl-3-[(2-methylthieno[3,2-d]pyrimidin-4-yl)amino]-1,4-dihydropyrrolo[3,4-d]pyrazole-5-carboxamide	1425021: Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by mass spectrometry.	kd	0.2370	uM
(18S)-18-[(dimethylamino)methyl]-17-oxa-4,14,21-triazahexacyclo[19.6.1.17,14.02,6.08,13.022,27]nonacosa-1(28),2(6),7(29),8,10,12,22,24,26-nonaene-3,5-dione	625090: Binding constant for ICK kinase domain	kd	0.2400	uM
Pacritinib	1425021: Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by mass spectrometry.	kd	0.2700	uM
2-[(2S)-1-[3-ethyl-7-[(1-oxidopyridin-1-ium-3-yl)methylamino]pyrazolo[1,5-a]pyrimidin-5-yl]piperidin-2-yl]ethanol	1425021: Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by mass spectrometry.	kd	0.2710	uM
(3Z)-5-[(2,6-dichlorophenyl)methylsulfonyl]-3-[[3,5-dimethyl-4-[(2R)-2-(pyrrolidin-1-ylmethyl)pyrrolidine-1-carbonyl]-1H-pyrrol-2-yl]methylidene]-1H-indol-2-one	625090: Binding constant for ICK kinase domain	kd	0.4000	uM
Sunitinib	507975: Binding affinity to ICK	kd	0.4700	uM
(2S)-1-[[5-(3-methyl-2H-indazol-5-yl)-3-pyridinyl]oxy]-3-phenylpropan-2-amine	625090: Binding constant for ICK kinase domain	kd	0.5500	uM
3-(1-methylindol-3-yl)-4-[1-[1-(pyridin-2-ylmethyl)piperidin-4-yl]indol-3-yl]pyrrole-2,5-dione	625090: Binding constant for ICK kinase domain	kd	0.6800	uM
Momelotinib	1425021: Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by mass spectrometry.	kd	0.7200	uM
N,1,4,4-tetramethyl-8-[4-(4-methylpiperazin-1-yl)anilino]-5H-pyrazolo[4,5-h]quinazoline-3-carboxamide	1425021: Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by mass spectrometry.	kd	0.8630	uM
5-(3-chloroanilino)benzo[c][2,6]naphthyridine-8-carboxylic acid	1425021: Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by mass spectrometry.	kd	0.8840	uM
2-(2-chlorophenyl)-5,7-dihydroxy-8-[(2R,3S)-2-(hydroxymethyl)-1-methylpyrrolidin-3-yl]chromen-4-one;hydrochloride	1425021: Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by mass spectrometry.	kd	0.8920	uM
5-[(Z)-(5-fluoro-2-oxo-1H-indol-3-ylidene)methyl]-N-[(2S)-2-hydroxy-3-morpholin-4-ylpropyl]-2,4-dimethyl-1H-pyrrole-3-carboxamide	625090: Binding constant for ICK kinase domain	kd	1.2000	uM
methyl 2-hydroxy-3-[N-[4-[methyl-[2-(4-methylpiperazin-1-yl)acetyl]amino]phenyl]-C-phenylcarbonimidoyl]-1H-indole-6-carboxylate	625090: Binding constant for ICK kinase domain	kd	1.7000	uM
Fedratinib	625090: Binding constant for ICK kinase domain	kd	1.9000	uM
[4-[(E)-2-(1H-indazol-3-yl)ethenyl]phenyl]-piperazin-1-ylmethanone	625090: Binding constant for ICK kinase domain	kd	2.2000	uM
1-[4-[(4-ethylpiperazin-1-yl)methyl]-3-(trifluoromethyl)phenyl]-3-[4-[6-(methylamino)pyrimidin-4-yl]oxyphenyl]urea	625090: Binding constant for ICK kinase domain	kd	2.5000	uM
5-chloro-2-N-[2-methoxy-4-[4-(4-methylpiperazin-1-yl)piperidin-1-yl]phenyl]-4-N-(2-propan-2-ylsulfonylphenyl)pyrimidine-2,4-diamine	625090: Binding constant for ICK kinase domain	kd	4.0000	uM
Midostaurin	625090: Binding constant for ICK kinase domain	kd	5.9000	uM
3-(1H-indol-3-yl)-4-[2-(4-methylpiperazin-1-yl)quinazolin-4-yl]pyrrole-2,5-dione	1425021: Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by mass spectrometry.	kd	6.6890	uM
4-[2-(1H-indazol-4-yl)-6-[(4-methylsulfonylpiperazin-1-yl)methyl]thieno[3,2-d]pyrimidin-4-yl]morpholine	625090: Binding constant for ICK kinase domain	kd	9.3000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	decreases expression	2
Cisplatin	decreases expression, increases expression	2
Silicon Dioxide	decreases expression	2
GSK-J4	increases expression	1
FR900359	increases phosphorylation	1
sodium arsenite	affects cotreatment, increases abundance, increases expression	1
cobaltous chloride	increases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
perfluorooctane sulfonic acid	decreases expression	1
jinfukang	decreases expression	1
Bortezomib	increases expression	1
Temozolomide	increases expression	1
Arsenic Trioxide	increases expression	1
Arsenic	increases expression, affects cotreatment, increases abundance	1
Atrazine	decreases expression	1
Vehicle Emissions	increases abundance, increases expression	1
Cadmium	increases abundance, decreases expression	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Manganese	increases abundance, increases expression, affects cotreatment	1
Methyl Methanesulfonate	increases expression	1
Methylcholanthrene	affects binding, increases reaction	1
Valproic Acid	decreases methylation	1
Metribolone	increases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	decreases expression, increases abundance	1
Lactic Acid	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

ChEMBL screening assays

119 unique, capped per target: 119 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1166021	Binding	Inhibition of ICK at 1 uM	Synthesis and structure-activity relationships of 1,2,3,4-tetrahydropyrido[2,3-b]pyrazines as potent and selective inhibitors of the anaplastic lymphoma kinase. — Bioorg Med Chem

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SR95	HAP1 ICK (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT06153186	PHASE2	TERMINATED	Flunarizine for Treatment Resistant Absence Epilepsy
NCT03400371	Not specified	RECRUITING	Biology of Juvenile Myoclonic Epilepsy
NCT04032756	Not specified	TERMINATED	Tofacitinib Registry of Patients With Ulcerative Colitis in Germany
NCT04184531	Not specified	UNKNOWN	Sensenbrenner Clinical Study
NCT06626282	Not specified	RECRUITING	Fertility and Ovarian Reserve in Female Childhood Cancer Survivors
NCT00368004	Not specified	TERMINATED	Family Studies of Uveal Coloboma
NCT01778543	Not specified	RECRUITING	Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC)
NCT04833361	Not specified	COMPLETED	Potential Environmental Causes of Uveal Coloboma
NCT06293560	Not specified	RECRUITING	Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children
NCT03748732	Not specified	UNKNOWN	Extensive Circumferential Partial Thickness Sclerectomy in Nanophthalmic Eyes
NCT04759560	Not specified	UNKNOWN	Biometric Characteristics of the Eye With Microcornea/Microphthalmia and Congenital Cataract Before And After Cataract Extraction
NCT05954403	Not specified	RECRUITING	National Cohort on Congenital Defects of the Eye