CDC42BPG

Summary

CDC42BPG (CDC42 binding protein kinase gamma, HGNC:29829) is a protein-coding gene on chromosome 11q13.1, encoding Serine/threonine-protein kinase MRCK gamma (Q6DT37). May act as a downstream effector of CDC42 in cytoskeletal reorganization.

Enables ATP binding activity; magnesium ion binding activity; and protein serine/threonine kinase activity. Involved in protein phosphorylation. Located in cell leading edge; centriolar satellite; and cytosol.

Source: NCBI Gene 55561 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 340 total
• Druggable target: yes — 9 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_017525

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29829
Approved symbol	CDC42BPG
Name	CDC42 binding protein kinase gamma
Location	11q13.1
Locus type	gene with protein product
Status	Approved
Aliases	HSMDPKIN, MRCKgamma, DMPK2, kappa-200
Ensembl gene	ENSG00000171219
Ensembl biotype	protein_coding
OMIM	613991
Entrez	55561

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 4 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000342711, ENST00000468512, ENST00000480767, ENST00000491280, ENST00000904236, ENST00000904237, ENST00000939060

RefSeq mRNA: 1 — MANE Select: NM_017525 NM_017525

CCDS: CCDS31601

Canonical transcript exons

ENST00000342711 — 37 exons

Exon	Start	End
ENSE00000731328	64839033	64839233
ENSE00000863722	64839478	64839571
ENSE00000863723	64840120	64840268
ENSE00000863724	64840553	64840648
ENSE00001171095	64838083	64838162
ENSE00001329274	64838654	64838902
ENSE00001365406	64832604	64832743
ENSE00001365686	64833231	64833336
ENSE00001368649	64830194	64830256
ENSE00001372180	64823052	64824529
ENSE00001372583	64827527	64827611
ENSE00001372770	64832428	64832509
ENSE00001373981	64833925	64833977
ENSE00001375031	64834266	64834354
ENSE00001380155	64826671	64826794
ENSE00001381206	64827686	64827783
ENSE00001382259	64827050	64827167
ENSE00001383546	64826470	64826555
ENSE00001384124	64832826	64832959
ENSE00001384961	64834429	64834577
ENSE00001386888	64829471	64830070
ENSE00001386945	64833738	64833836
ENSE00001387956	64834849	64834963
ENSE00001391299	64827278	64827398
ENSE00001399416	64835762	64835851
ENSE00001402492	64835047	64835153
ENSE00001406736	64835500	64835621
ENSE00001409930	64841813	64841904
ENSE00001411952	64844410	64844653
ENSE00001421257	64836739	64836819
ENSE00001421741	64836427	64836530
ENSE00001428016	64836117	64836296
ENSE00001430721	64835347	64835419
ENSE00001434387	64836922	64837019
ENSE00002469769	64841650	64841733
ENSE00003534788	64831505	64831721
ENSE00003690148	64833600	64833659

Expression profiles

Bgee: expression breadth ubiquitous, 155 present calls, max score 91.43.

FANTOM5 (CAGE): breadth broad, TPM avg 0.9055 / max 15.9413, expressed in 322 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
120472	0.5725	255
120471	0.3330	170

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skin of abdomen	UBERON:0001416	91.43	gold quality
cerebellar hemisphere	UBERON:0002245	91.30	gold quality
cerebellar cortex	UBERON:0002129	91.23	gold quality
skin of leg	UBERON:0001511	90.82	gold quality
right hemisphere of cerebellum	UBERON:0014890	90.48	gold quality
right uterine tube	UBERON:0001302	90.01	gold quality
lower esophagus mucosa	UBERON:0035834	89.61	gold quality
cerebellum	UBERON:0002037	89.02	gold quality
esophagus mucosa	UBERON:0002469	88.21	gold quality
mucosa of transverse colon	UBERON:0004991	87.07	gold quality
zone of skin	UBERON:0000014	86.74	gold quality
minor salivary gland	UBERON:0001830	86.27	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	86.06	gold quality
body of pancreas	UBERON:0001150	83.91	gold quality
mouth mucosa	UBERON:0003729	81.49	gold quality
metanephros cortex	UBERON:0010533	81.13	gold quality
saliva-secreting gland	UBERON:0001044	81.06	gold quality
adenohypophysis	UBERON:0002196	79.71	gold quality
pancreas	UBERON:0001264	79.27	gold quality
body of stomach	UBERON:0001161	78.94	gold quality
upper lobe of left lung	UBERON:0008952	78.86	gold quality
pituitary gland	UBERON:0000007	78.71	gold quality
right adrenal gland	UBERON:0001233	77.98	gold quality
transverse colon	UBERON:0001157	77.94	gold quality
small intestine Peyer’s patch	UBERON:0003454	77.88	gold quality
vagina	UBERON:0000996	77.26	gold quality
right lung	UBERON:0002167	77.16	gold quality
right adrenal gland cortex	UBERON:0035827	77.16	gold quality
upper lobe of lung	UBERON:0008948	77.02	gold quality
right lobe of thyroid gland	UBERON:0001119	76.85	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.30
E-MTAB-6379	no	1.75

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SP1

miRNA regulators (miRDB)

27 targeting CDC42BPG, 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-4673	100.00	66.64	1490
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-670-5P	99.67	69.94	1565
HSA-MIR-940	99.37	66.14	2064
HSA-MIR-125A-5P	99.36	70.59	1640
HSA-MIR-125B-5P	99.36	70.36	1662
HSA-MIR-6808-5P	99.31	66.23	2150
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-331-3P	98.76	64.91	793
HSA-MIR-6796-3P	98.68	65.49	689
HSA-MIR-1237-3P	98.55	67.65	1423
HSA-MIR-7106-3P	97.33	65.33	644
HSA-MIR-4732-3P	97.15	65.45	881
HSA-MIR-6772-3P	97.04	65.89	784
HSA-MIR-5194	96.77	63.91	1021
HSA-MIR-6738-5P	96.33	63.61	815
HSA-MIR-1914-3P	95.07	63.37	762

Literature-anchored findings (GeneRIF, showing 2)

• CDC42BPG expression is regulated by promoter methylation and Sp1 binding. (PMID:15194684)
• Findings indicate that CDC42BPG may be a susceptibility locus for hyperuricemia. (PMID:29124443)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Cdc42bpg	ENSMUSG00000024769
rattus_norvegicus	Cdc42bpg	ENSRNOG00000027456
drosophila_melanogaster	gek	FBGN0023081
caenorhabditis_elegans		WBGENE00006437

Paralogs (5): ROCK1 (ENSG00000067900), CIT (ENSG00000122966), ROCK2 (ENSG00000134318), CDC42BPA (ENSG00000143776), CDC42BPB (ENSG00000198752)

Protein

Protein identifiers

Serine/threonine-protein kinase MRCK gamma — Q6DT37 (reviewed: Q6DT37)

Alternative names: CDC42-binding protein kinase gamma, DMPK-like gamma, Myotonic dystrophy kinase-related CDC42-binding kinase gamma, Myotonic dystrophy protein kinase-like alpha

All UniProt accessions (1): Q6DT37

UniProt curated annotations — full annotation on UniProt →

Function. May act as a downstream effector of CDC42 in cytoskeletal reorganization. Contributes to the actomyosin contractility required for cell invasion, through the regulation of MYPT1 and thus MLC2 phosphorylation.

Subunit / interactions. Homodimer and homotetramer via the coiled coil regions. Interacts tightly with GTP-bound but not GDP-bound CDC42.

Subcellular location. Cytoplasm.

Tissue specificity. Expressed in heart and skeletal muscle.

Activity regulation. Maintained in an inactive, closed conformation by an interaction between the kinase domain and the negative autoregulatory C-terminal coiled-coil region. Agonist binding to the phorbol ester binding site disrupts this, releasing the kinase domain to allow N-terminus-mediated dimerization and kinase activation by transautophosphorylation.

Similarity. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. DMPK subfamily.

RefSeq proteins (1): NP_059995* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000095	CRIB_dom	Domain
IPR000719	Prot_kinase_dom	Domain
IPR000961	AGC-kinase_C	Domain
IPR001180	CNH_dom	Domain
IPR001849	PH_domain	Domain
IPR002219	PKC_DAG/PE	Domain
IPR008271	Ser/Thr_kinase_AS	Active_site
IPR011009	Kinase-like_dom_sf	Homologous_superfamily
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR014930	Myotonic_dystrophy_kinase_coil	Domain
IPR017441	Protein_kinase_ATP_BS	Binding_site
IPR017892	Pkinase_C	Domain
IPR046349	C1-like_sf	Homologous_superfamily
IPR050839	Rho-assoc_Ser/Thr_Kinase	Family
IPR057529	MRCK/ROCK_PH	Domain

Pfam: PF00069, PF00130, PF00433, PF00780, PF08826, PF25346

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 (32 total): domain 5, region of interest 5, compositionally biased region 5, sequence variant 5, modified residue 4, coiled-coil region 2, binding site 2, chain 1, active site 1, sequence conflict 1, zinc finger region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6DT37-F1	72.90	0.26

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): 195 (proton acceptor)

Ligand- & substrate-binding residues (2): 77–85; 100

Post-translational modifications (4): 216, 228, 234, 1482

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 85 (showing top): chr11q13, GOBP_ACTOMYOSIN_STRUCTURE_ORGANIZATION, CUI_TCF21_TARGETS_2_DN, GOMF_MAGNESIUM_ION_BINDING, GOCC_CELL_LEADING_EDGE, GOMF_PROTEIN_KINASE_ACTIVITY, GOMF_KINASE_ACTIVITY, GOMF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY, GOMF_ADENYL_NUCLEOTIDE_BINDING, GOMF_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS, CHEMNITZ_RESPONSE_TO_PROSTAGLANDIN_E2_DN, ZWANG_EGF_INTERVAL_DN, NCOA6_TARGET_GENES, NFKBIA_TARGET_GENES, SFMBT1_TARGET_GENES

GO Biological Process (3): protein phosphorylation (GO:0006468), actin cytoskeleton organization (GO:0030036), actomyosin structure organization (GO:0031032)

GO Molecular Function (11): magnesium ion binding (GO:0000287), protein serine/threonine kinase activity (GO:0004674), ATP binding (GO:0005524), zinc ion binding (GO:0008270), protein serine kinase activity (GO:0106310), nucleotide binding (GO:0000166), protein kinase activity (GO:0004672), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (5): cytoplasm (GO:0005737), cytosol (GO:0005829), cytoskeleton (GO:0005856), cell leading edge (GO:0031252), centriolar satellite (GO:0034451)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
protein kinase activity	2
phosphorylation	1
protein modification process	1
cytoskeleton organization	1
actin filament-based process	1
actin cytoskeleton organization	1
metal ion binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
transition metal ion binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
kinase activity	1
phosphotransferase activity, alcohol group as acceptor	1
catalytic activity, acting on a protein	1
binding	1
transferase activity, transferring phosphorus-containing groups	1
catalytic activity	1
cation binding	1
intracellular anatomical structure	1
cytoplasm	1
intracellular membraneless organelle	1
centrosome	1

Protein interactions and networks

STRING

909 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CDC42BPG	RHOQ	P17081	470
CDC42BPG	KRTAP10-6	P60371	419
CDC42BPG	CIMAP1C	Q8IXM7	371
CDC42BPG	PHF14	O94880	368
CDC42BPG	ARHGAP33	O14559	353
CDC42BPG	SLC22A12	Q96S37	322
CDC42BPG	TMEFF2	Q9UIK5	314
CDC42BPG	PROSER2	Q86WR7	311
CDC42BPG	CDC42	P21181	300
CDC42BPG	SLC2A9	Q9NRM0	290
CDC42BPG	RABL3	Q5HYI8	289
CDC42BPG	RHOF	Q9HBH0	287
CDC42BPG	KLHDC7A	Q5VTJ3	282
CDC42BPG	PCNX3	Q9H6A9	275
CDC42BPG	IGDCC4	Q8TDY8	273

IntAct

44 interactions, top by confidence:

A	B	Type	Score
TBK1	TBKBP1	psi-mi:“MI:0914”(association)	0.860
DYNLL1	BLTP3B	psi-mi:“MI:0914”(association)	0.730
DYNLL2	BLTP3B	psi-mi:“MI:0914”(association)	0.640
CDC42BPG	TBK1	psi-mi:“MI:0915”(physical association)	0.620
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
RPL28	MAGEB2	psi-mi:“MI:0914”(association)	0.560
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
ZNRD2	MYO9A	psi-mi:“MI:0914”(association)	0.530
KXD1	TRAK2	psi-mi:“MI:0914”(association)	0.530
KXD1	HIP1	psi-mi:“MI:0914”(association)	0.530
LURAP1	TRIM24	psi-mi:“MI:0914”(association)	0.530
ZNRD2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
YWHAQ	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
CDC42BPG	CDC42	psi-mi:“MI:0915”(physical association)	0.400
CDC42BPG	RHOQ	psi-mi:“MI:0915”(physical association)	0.400
CDC42BPG	SFN	psi-mi:“MI:0915”(physical association)	0.400
FAM167A	SHTN1	psi-mi:“MI:0914”(association)	0.350
RALBP1	ABLIM1	psi-mi:“MI:0914”(association)	0.350
	HLA-C	psi-mi:“MI:0914”(association)	0.350
HCN1	POTEF	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
YWHAH	FOXO6	psi-mi:“MI:0914”(association)	0.350
LURAP1	CIBAR1	psi-mi:“MI:0914”(association)	0.350
POU1F1	CDC42BPG	psi-mi:“MI:0914”(association)	0.350
FAM167A	IFT56	psi-mi:“MI:0914”(association)	0.350

BioGRID (42): CDC42BPG (Affinity Capture-MS), CDC42BPG (Affinity Capture-RNA), CDC42BPG (Affinity Capture-MS), CDC42BPG (Affinity Capture-MS), RAC1 (Reconstituted Complex), CDC42 (Reconstituted Complex), RHOQ (Reconstituted Complex), CDC42BPG (Affinity Capture-MS), CDC42BPG (Affinity Capture-MS), CDC42BPG (Affinity Capture-MS), CDC42BPG (Affinity Capture-MS), CDC42BPG (Affinity Capture-MS), CDC42BPG (Affinity Capture-MS), CDC42BPG (Affinity Capture-MS), CDC42BPG (Affinity Capture-MS)

ESM2 similar proteins: A1L3T7, A2A3L6, A4IFI1, A7E3N7, A8MYJ7, A8VU90, O94761, O94812, O95153, O95382, P97680, Q0P5G1, Q13671, Q14154, Q3UYR4, Q4V896, Q53GL7, Q569K6, Q58CQ5, Q58EX7, Q66H85, Q6DT37, Q6F5E8, Q6ZVH7, Q76MJ5, Q7TNF8, Q7Z3H0, Q80UU1, Q80UW5, Q8BWA8, Q8BXP5, Q8BYG0, Q8CIE4, Q8CJ00, Q8IYJ3, Q8NAG6, Q8TE82, Q91WA6, Q91WE1, Q921Q7

Diamond homologs: A0A7J6K7I9, A0A7J6K7Y0, A0A7J6KD88, A8X775, B1WAR9, C4YRB7, D2HXI8, E1C2I2, E9PSL7, G1X456, G5EGQ3, M3TYT0, O00506, O01583, O01700, O14578, O54874, O61267, O75116, O77819, O80902, O88643, O97627, P05131, P0CY23, P0CY24, P13677, P21146, P25098, P26817, P26818, P32865, P34100, P35465, P38070, P48562, P49025, P49673, P54265, P70335

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 57 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
Activation of BAD and translocation to mitochondria	5	102.9×	8e-08
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	5	90.8×	1e-07
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	5	90.8×	1e-07
Activation of BH3-only proteins	5	67.1×	4e-07
RHO GTPases activate PKNs	5	42.9×	3e-06
Intrinsic Pathway for Apoptosis	5	39.6×	4e-06
SARS-CoV-1-host interactions	6	28.5×	2e-06
Translocation of SLC2A4 (GLUT4) to the plasma membrane	6	25.0×	4e-06

GO biological processes:

GO term	Partners	Fold	FDR
small GTPase-mediated signal transduction	5	16.6×	1e-03
intracellular protein localization	7	13.3×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	270
Likely benign	22
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

6109 predictions. Top by Δscore:

Variant	Effect	Δscore
11:64826465:CTCA:C	donor_loss	1.0000
11:64826466:TCA:T	donor_loss	1.0000
11:64826467:CACCT:C	donor_loss	1.0000
11:64826469:C:G	donor_loss	1.0000
11:64826563:A:T	acceptor_gain	1.0000
11:64826565:C:CT	acceptor_gain	1.0000
11:64826566:A:T	acceptor_gain	1.0000
11:64826568:C:CT	acceptor_gain	1.0000
11:64826569:A:T	acceptor_gain	1.0000
11:64826572:C:CT	acceptor_gain	1.0000
11:64826573:G:T	acceptor_gain	1.0000
11:64826580:C:CT	acceptor_gain	1.0000
11:64826669:A:AC	donor_gain	1.0000
11:64826670:C:CC	donor_gain	1.0000
11:64827276:A:AC	donor_gain	1.0000
11:64827277:C:CC	donor_gain	1.0000
11:64827394:CTTCT:C	acceptor_gain	1.0000
11:64827395:TTCT:T	acceptor_gain	1.0000
11:64827397:CT:C	acceptor_gain	1.0000
11:64827399:C:CC	acceptor_gain	1.0000
11:64827400:T:A	acceptor_loss	1.0000
11:64827401:G:C	acceptor_gain	1.0000
11:64827520:C:CA	donor_gain	1.0000
11:64827524:CACC:C	donor_loss	1.0000
11:64827525:A:AT	donor_loss	1.0000
11:64827526:C:A	donor_loss	1.0000
11:64827539:T:TA	donor_gain	1.0000
11:64827611:CCTGA:C	acceptor_loss	1.0000
11:64827612:CT:C	acceptor_loss	1.0000
11:64827613:T:C	acceptor_loss	1.0000

AlphaMissense

9937 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:64839515:T:A	D213V	1.000
11:64839131:A:G	W260R	0.999
11:64839131:A:T	W260R	0.999
11:64839514:G:C	D213E	0.999
11:64839514:G:T	D213E	0.999
11:64839515:T:G	D213A	0.999
11:64841686:T:A	K100N	0.999
11:64841686:T:G	K100N	0.999
11:64841687:T:A	K100I	0.999
11:64832711:C:A	W966C	0.998
11:64832711:C:G	W966C	0.998
11:64834519:A:G	L745P	0.998
11:64839121:C:T	G263E	0.998
11:64839122:C:G	G263R	0.998
11:64839122:C:T	G263R	0.998
11:64839129:C:A	W260C	0.998
11:64839129:C:G	W260C	0.998
11:64839137:C:A	D258Y	0.998
11:64839181:A:G	L243P	0.998
11:64839515:T:C	D213G	0.998
11:64839516:C:G	D213H	0.998
11:64839569:T:A	D195V	0.998
11:64839569:T:G	D195A	0.998
11:64841819:A:C	F82L	0.998
11:64841819:A:T	F82L	0.998
11:64841821:A:G	F82L	0.998
11:64841853:A:G	F71S	0.998
11:64832713:A:G	W966R	0.997
11:64832713:A:T	W966R	0.997
11:64838787:A:G	F331S	0.997

dbSNP variants (sampled 300 via entrez): RS1000462747 (11:64834940 C>A,T), RS1000480085 (11:64823603 CCT>C), RS1000504371 (11:64831341 G>C), RS1000523292 (11:64823276 T>A,C), RS1000743324 (11:64834634 C>A), RS1000844588 (11:64845326 G>A), RS1001034216 (11:64838503 G>A,C), RS1001252663 (11:64839233 C>T), RS1001290714 (11:64833754 C>A,T), RS1001327229 (11:64844745 C>G), RS1001389638 (11:64838304 C>A,G,T), RS1001400397 (11:64844980 C>G,T), RS1001589012 (11:64829294 T>C), RS1001670359 (11:64842837 C>T), RS1001722761 (11:64843031 G>A,T)

Disease associations

OMIM: gene MIM:613991 | 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
GCST001163_5	Urate levels	6.000000e-11
GCST007918_14	Serum uric acid levels	4.000000e-12
GCST010274_8	Gout (combined type)	8.000000e-10
GCST012020_218	Serum metabolite levels	7.000000e-12

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement
EFO:0004761	uric acid measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5615 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

9 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 162,726 (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
CHEMBL24828	VANDETANIB	4	42,230
CHEMBL5416410	DASATINIB	4	655
CHEMBL553	ERLOTINIB	4	108,300
CHEMBL223360	LINIFANIB	3	3,925
CHEMBL603469	LESTAURTINIB	3
CHEMBL103667	DORAMAPIMOD	2	1,681
CHEMBL1230609	FORETINIB	2	3,096
CHEMBL574737	UCN-01	2	2,217
CHEMBL1908397	KW-2449	1	622

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

GtoPdb / IUPHAR curated pharmacology

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

Target class: enzyme — GEK subfamily

Binding affinities (BindingDB)

7 measured of 7 human assays (7 total across all organisms); most potent 7 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value
1-[2-(4-methylphenyl)-5-tert-butyl-pyrazol-3-yl]-3-[4-(2-morpholin-4-ylethoxy)naphthalen-1-yl]urea	KD	0.37 nM
Staurosporine	KD	1.7 nM
4-(4-Fluorophenyl)-2-(4-hydroxyphenyl)-5-(4-pyridyl)-1H-imidazole	KD	9.8 nM
4-[4-(4-fluorophenyl)-2-(4-methanesulfinylphenyl)-1H-imidazol-5-yl]pyridine	KD	12 nM
BMS-354825	KD	27 nM
N-(4-bromo-2-fluorophenyl)-6-methoxy-7-[(1-methylpiperidin-4-yl)methoxy]quinazolin-4-amine	KD	150 nM
ERLOTINIB HYDROCHLORIDE	KD	1200 nM

ChEMBL bioactivities

30 potent at pChembl≥5 of 32 total, top 23 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
9.72	IC50	0.19	nM	STAUROSPORINE
9.31	IC50	0.484	nM	STAUROSPORINE
9.07	IC50	0.848	nM	STAUROSPORINE
8.15	Kd	7	nM	CHEMBL4465866
7.43	Kd	37	nM	STAUROSPORINE
7.20	Kd	63	nM	CHEMBL3688339
7.02	Kd	94.73	nM	CHEMBL5653589
7.02	ED50	94.73	nM	CHEMBL5653589
6.75	Kd	180	nM	FORETINIB
6.60	Kd	250	nM	CHEMBL386051
6.57	Kd	269	nM	UCN-01
6.40	Kd	400	nM	SB-203580
6.34	Kd	460	nM	CHEMBL379218
6.19	Kd	640	nM	SB-202190
6.07	Kd	850	nM	CHEMBL5084426
5.92	Kd	1200	nM	DORAMAPIMOD
5.92	Kd	1200	nM	DASATINIB
5.68	Kd	2100	nM	KW-2449
5.66	Kd	2200	nM	VANDETANIB
5.60	Kd	2500	nM	LESTAURTINIB
5.47	Kd	3400	nM	ERLOTINIB
5.08	Kd	8300	nM	LINIFANIB
5.02	Kd	9500	nM	TAE-684

PubChem BioAssay actives

28 with measured affinity, of 416 total; 18 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
(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	1715378: Inhibition of human DMPK2 using KKRPQRRYSNVF as substrate by [gamma-33P]-ATP assay	ic50	0.0002	uM
3-(2,2-difluoro-10,12-dimethyl-1-aza-3-azonia-2-boranuidatricyclo[7.3.0.03,7]dodeca-3,5,7,9,11-pentaen-4-yl)-N-[2-[2-[2-[2-[[(2S,3R,4R,6R)-3-methoxy-2-methyl-16-oxo-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-4-yl]amino]ethoxy]ethoxy]ethoxy]ethyl]propanamide	1526130: Binding affinity to recombinant full-length N-terminal His-FLAG-GST-tagged DMPK2 (unknown origin) expressed in baculovirus infected Sf9 insect cells incubated for 1 hr by TR-FRET assay	kd	0.0070	uM
1-[6-(3,5-dichloro-4-hydroxyphenyl)-4-[[4-[(dimethylamino)methyl]cyclohexyl]amino]-1,5-naphthyridin-3-yl]ethanone	1424935: 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	0.0630	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148038: Binding affinity to human CDC42BPG incubated for 45 mins by Kinobead based pull down assay	kd	0.0947	uM
1-N’-[3-fluoro-4-[6-methoxy-7-(3-morpholin-4-ylpropoxy)quinolin-4-yl]oxyphenyl]-1-N-(4-fluorophenyl)cyclopropane-1,1-dicarboxamide	625107: Binding constant for DMPK2 kinase domain	kd	0.1800	uM
6-(2,6-dichlorophenyl)-8-methyl-2-(3-methylsulfanylanilino)pyrido[2,3-d]pyrimidin-7-one	625107: Binding constant for DMPK2 kinase domain	kd	0.2500	uM
(2S,3R,4R,6R,18S)-18-hydroxy-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	1424935: 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	0.2690	uM
4-[4-(4-fluorophenyl)-2-(4-methylsulfinylphenyl)-1H-imidazol-5-yl]pyridine	436013: Binding constant for DMPK2 kinase domain	kd	0.4000	uM
(2S)-1-[[5-(3-methyl-2H-indazol-5-yl)-3-pyridinyl]oxy]-3-phenylpropan-2-amine	625107: Binding constant for DMPK2 kinase domain	kd	0.4600	uM
4-[4-(4-fluorophenyl)-5-pyridin-4-yl-1H-imidazol-2-yl]phenol	436013: Binding constant for DMPK2 kinase domain	kd	0.6400	uM
N-(2-chloro-6-methylphenyl)-2-[[6-[4-(2-hydroxyethyl)piperazin-1-yl]-2-methylpyrimidin-4-yl]amino]-1,3-thiazole-5-carboxamide;hydrate	436013: Binding constant for DMPK2 kinase domain	kd	1.2000	uM
1-[3-tert-butyl-1-(4-methylphenyl)pyrazol-5-yl]-3-[4-(2-morpholin-4-ylethoxy)naphthalen-1-yl]urea	436013: Binding constant for DMPK2 kinase domain	kd	1.2000	uM
[4-[(E)-2-(1H-indazol-3-yl)ethenyl]phenyl]-piperazin-1-ylmethanone	625107: Binding constant for DMPK2 kinase domain	kd	2.1000	uM
Vandetanib	436013: Binding constant for DMPK2 kinase domain	kd	2.2000	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	507902: Binding affinity to DMPK2	kd	2.5000	uM
Erlotinib	436013: Binding constant for DMPK2 kinase domain	kd	3.4000	uM
1-[4-(3-amino-1H-indazol-4-yl)phenyl]-3-(2-fluoro-5-methylphenyl)urea	625107: Binding constant for DMPK2 kinase domain	kd	8.3000	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	625107: Binding constant for DMPK2 kinase domain	kd	9.5000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression	2
Air Pollutants	decreases expression, increases abundance, increases expression	2
Benzo(a)pyrene	affects methylation, increases expression, increases methylation	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
FR900359	affects phosphorylation	1
lasiocarpine	increases expression	1
propionaldehyde	increases expression	1
ethyl-p-hydroxybenzoate	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
sulforaphane	decreases expression	1
nutlin 3	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Acetaminophen	increases expression	1
Arsenic	increases abundance, increases expression	1
Caffeine	affects phosphorylation	1
Camptothecin	increases expression	1
Cisplatin	increases expression, affects cotreatment	1
Copper	decreases expression, affects cotreatment	1
Dactinomycin	affects cotreatment, increases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Estradiol	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	decreases expression	1
Valproic Acid	increases methylation	1
Aflatoxin B1	decreases methylation	1
Okadaic Acid	increases expression	1

ChEMBL screening assays

94 unique, capped per target: 94 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1034103	Binding	Inhibition of DMPK2 at 3 uM	Discovery of substituted 4-(pyrazol-4-yl)-phenylbenzodioxane-2-carboxamides as potent and highly selective Rho kinase (ROCK-II) inhibitors. — J 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_SI09	HAP1 CDC42BPG (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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