CMPK2

Summary

CMPK2 (cytidine/uridine monophosphate kinase 2, HGNC:27015) is a protein-coding gene on chromosome 2p25.2, encoding UMP-CMP kinase 2, mitochondrial (Q5EBM0). Mitochondrial nucleotide monophosphate kinase needed for salvage dNTP synthesis that mediates immunomodulatory and antiviral activities through IFN-dependent and IFN-independent pathways.

This gene encodes one of the enzymes in the nucleotide synthesis salvage pathway that may participate in terminal differentiation of monocytic cells. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 129607 — RefSeq curated summary.

At a glance

• Gene–disease (curated): basal ganglia calcification, idiopathic, 10, autosomal recessive (Limited, GenCC)
• GWAS associations: 2
• Clinical variants (ClinVar): 119 total — 3 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 48
• MANE Select transcript: NM_207315

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27015
Approved symbol	CMPK2
Name	cytidine/uridine monophosphate kinase 2
Location	2p25.2
Locus type	gene with protein product
Status	Approved
Aliases	TYKi, UMP-CMPK2, NDK
Ensembl gene	ENSG00000134326
Ensembl biotype	protein_coding
OMIM	611787
Entrez	129607

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 4 protein_coding_CDS_not_defined, 3 protein_coding

ENST00000256722, ENST00000404168, ENST00000458098, ENST00000465619, ENST00000470479, ENST00000478738, ENST00000491738

RefSeq mRNA: 3 — MANE Select: NM_207315 NM_001256477, NM_001256478, NM_207315

CCDS: CCDS42648, CCDS58695, CCDS58696

Canonical transcript exons

ENST00000256722 — 5 exons

Exon	Start	End
ENSE00001862268	6848316	6849973
ENSE00001935604	6865022	6865907
ENSE00003497098	6851450	6851683
ENSE00003521409	6863464	6863578
ENSE00003629631	6861184	6861385

Expression profiles

Bgee: expression breadth ubiquitous, 247 present calls, max score 96.63.

FANTOM5 (CAGE): breadth broad, TPM avg 8.4259 / max 742.3218, expressed in 802 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
26740	6.1189	650
26739	1.4680	242
26741	0.3306	132
26743	0.1914	78
26742	0.1374	51
26738	0.0936	32
26744	0.0859	41

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
palpebral conjunctiva	UBERON:0001812	96.63	gold quality
epithelial cell of pancreas	CL:0000083	96.48	gold quality
trabecular bone tissue	UBERON:0002483	95.76	gold quality
decidua	UBERON:0002450	95.52	gold quality
amniotic fluid	UBERON:0000173	93.40	gold quality
jejunal mucosa	UBERON:0000399	93.09	gold quality
bronchial epithelial cell	CL:0002328	92.19	gold quality
ileal mucosa	UBERON:0000331	92.11	gold quality
Brodmann (1909) area 23	UBERON:0013554	91.87	gold quality
endothelial cell	CL:0000115	91.79	gold quality
visceral pleura	UBERON:0002401	91.75	gold quality
bronchus	UBERON:0002185	91.05	gold quality
pigmented layer of retina	UBERON:0001782	89.42	gold quality
bone marrow	UBERON:0002371	89.09	gold quality
middle temporal gyrus	UBERON:0002771	88.77	gold quality
monocyte	CL:0000576	88.76	gold quality
leukocyte	CL:0000738	88.50	gold quality
germinal epithelium of ovary	UBERON:0001304	88.27	gold quality
parietal pleura	UBERON:0002400	88.10	gold quality
epithelium of nasopharynx	UBERON:0001951	87.91	gold quality
heart right ventricle	UBERON:0002080	87.05	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.62	gold quality
tendon of biceps brachii	UBERON:0008188	85.47	gold quality
duodenum	UBERON:0002114	85.43	gold quality
colonic mucosa	UBERON:0000317	84.18	gold quality
caput epididymis	UBERON:0004358	83.83	gold quality
nasal cavity mucosa	UBERON:0001826	83.66	gold quality
lower lobe of lung	UBERON:0008949	83.60	gold quality
mucosa of sigmoid colon	UBERON:0004993	83.28	gold quality
primary visual cortex	UBERON:0002436	83.20	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.81
E-GEOD-75367	no	507.06
E-MTAB-7052	no	132.98

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

113 targeting CMPK2, 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-3924	100.00	72.09	2394
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502

Literature-anchored findings (GeneRIF, showing 6)

• a human mitochondrial UMP-CMP kinase (UMP-CMPK, cytidylate kinase; EC 2.7.4.14), designated as UMP-CMP kinase 2 (UMP-CMPK2), is identified. (PMID:17999954)
• Upregulated in monocyte/macrophage differentiating cells, suggesting coordinated regulation with the terminal differentiation program. (PMID:18498354)
• Mitochondrial protein CMPK2 regulates IFN alpha-enhanced foam cell formation, potentially contributing to premature atherosclerosis in SLE. (PMID:33874983)
• The mitochondrial gene-CMPK2 functions as a rheostat for macrophage homeostasis. (PMID:36451821)
• CMPK2 restricts Zika virus replication by inhibiting viral translation. (PMID:37075076)
• Microglial CMPK2 promotes neuroinflammation and brain injury after ischemic stroke. (PMID:38701781)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	cmpk2	ENSDARG00000031359
mus_musculus	Cmpk2	ENSMUSG00000020638
rattus_norvegicus	Cmpk2	ENSRNOG00000007690
caenorhabditis_elegans		WBGENE00011272

Paralogs (1): DTYMK (ENSG00000168393)

Protein

Protein identifiers

UMP-CMP kinase 2, mitochondrial — Q5EBM0 (reviewed: Q5EBM0)

Alternative names: Nucleoside-diphosphate kinase

All UniProt accessions (1): Q5EBM0

UniProt curated annotations — full annotation on UniProt →

Function. Mitochondrial nucleotide monophosphate kinase needed for salvage dNTP synthesis that mediates immunomodulatory and antiviral activities through IFN-dependent and IFN-independent pathways. Restricts the replication of multiple viruses including flaviviruses or coronaviruses. Together with viperin/RSAD2 and ddhCTP, suppresses the replication of several coronaviruses through inhibition of the viral RNA-dependent RNA polymerase activities. Concerning flaviviruses, restricts RNA translation when localized to the mitochondria independently of its kinase activity. Is able to phosphorylate dUMP, dCMP, CMP, UMP and monophosphates of the pyrimidine nucleoside analogs ddC, dFdC, araC, BVDU and FdUrd with ATP as phosphate donor. Efficacy is highest for dUMP followed by dCMP while CMP and UMP are poor substrates. Controls therefore mitochondrial DNA synthesis by supplying required deoxyribonucleotides. CMPK2-dependent mitochondrial DNA synthesis is necessary for the production of oxidized mitochondrial DNA fragments after exposure to NLRP3 activators. In turn, cytosolic oxidized mtDNA associates with the NLRP3 inflammasome complex and is required for its activation.

Subcellular location. Mitochondrion.

Tissue specificity. High levels are observed in myeloid, lymphoid and mesenchymal tissues.

Disease relevance. Basal ganglia calcification, idiopathic, 10, autosomal recessive (IBGC10) [MIM:621018] A form of basal ganglia calcification, a genetically heterogeneous condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. IBGC10 is a progressive form characterized by motor dysfunction, speech impairment, and impaired cognition. The disease may be caused by variants affecting the gene represented in this entry.

Induction. By interferon-alpha. IRF1 is crucial for the transcriptional activation of CMPK2.

Similarity. Belongs to the thymidylate kinase family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q5EBM0-1	1	yes
Q5EBM0-2	2
Q5EBM0-3	3
Q5EBM0-4	4

RefSeq proteins (3): NP_001243406, NP_001243407, NP_997198* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR014505	UMP-CMP_kinase_2	Family
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR039430	Thymidylate_kin-like_dom	Domain

Pfam: PF02223

Enzyme classification (BRENDA):

• EC 2.7.4.14 — UMP/CMP kinase (BRENDA: 12 organisms, 125 substrates, 43 inhibitors, 132 Km, 30 kcat entries)

Substrate kinetics (BRENDA)

39 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
CMP	0.0053–3.09	23
UMP	0.02–6.3	23
DCMP	0.017–2.77	17
ATP	0.029–0.68	12
DUMP	0.1–8.5	6
ARA-CMP	0.26–0.917	3
BETA-L-2’,3’-DIDEOXY-3’-THIACYTIDINE MONOPHOSPHA	0.15–2	3
DATP	0.074–0.61	3
BETA-D-2’,3’-DIDEOXY-CMP	0.272–1.037	2
CIDOFOVIR	1–2.3	2
CYTARABINE	0.315–0.327	2
D-CMP	0.02	2
D-DCMP	1	2
D-DUMP	1.3	2
D-UMP	0.05	2

Catalyzed reactions (Rhea), 4 shown:

• CMP + ATP = CDP + ADP (RHEA:11600)
• a ribonucleoside 5’-diphosphate + ATP = a ribonucleoside 5’-triphosphate + ADP (RHEA:18113)
• dCMP + ATP = dCDP + ADP (RHEA:25094)
• a 2’-deoxyribonucleoside 5’-diphosphate + ATP = a 2’-deoxyribonucleoside 5’-triphosphate + ADP (RHEA:44640)

UniProt features (11 total): splice variant 4, sequence variant 2, transit peptide 1, chain 1, sequence conflict 1, coiled-coil region 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5EBM0-F1	87.26	0.66

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 (1): 259–266

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 427 (showing top): chr2p25, GOBP_NUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_PYRIMIDINE_NUCLEOSIDE_TRIPHOSPHATE_BIOSYNTHETIC_PROCESS, DARWICHE_SKIN_TUMOR_PROMOTER_UP, DARWICHE_PAPILLOMA_RISK_LOW_UP, DARWICHE_PAPILLOMA_RISK_HIGH_UP, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, DARWICHE_SQUAMOUS_CELL_CARCINOMA_UP, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND

GO Biological Process (6): dUDP biosynthetic process (GO:0006227), dTDP biosynthetic process (GO:0006233), dTTP biosynthetic process (GO:0006235), cellular response to lipopolysaccharide (GO:0071222), pyrimidine nucleotide biosynthetic process (GO:0006221), nucleoside monophosphate phosphorylation (GO:0046940)

GO Molecular Function (11): nucleoside diphosphate kinase activity (GO:0004550), dTMP kinase activity (GO:0004798), ATP binding (GO:0005524), UMP kinase activity (GO:0033862), CMP kinase activity (GO:0036430), dCMP kinase activity (GO:0036431), dUMP kinase activity (GO:0120136), nucleotide binding (GO:0000166), kinase activity (GO:0016301), transferase activity (GO:0016740), nucleoside monophosphate kinase activity (GO:0050145)

GO Cellular Component (3): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), mitochondrion (GO:0005739)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
pyrimidine deoxyribonucleotide biosynthetic process	3
deoxynucleoside phosphate kinase activity, ATP as phosphate donor	3
pyrimidine deoxyribonucleoside diphosphate biosynthetic process	2
nucleotide biosynthetic process	2
phosphotransferase activity, phosphate group as acceptor	2
nucleobase-containing compound kinase activity	2
nucleoside monophosphate kinase activity	2
cellular anatomical structure	2
deoxyribonucleoside diphosphate biosynthetic process	1
dUDP metabolic process	1
dTDP metabolic process	1
deoxyribonucleoside triphosphate biosynthetic process	1
pyrimidine deoxyribonucleoside triphosphate biosynthetic process	1
dTTP metabolic process	1
response to lipopolysaccharide	1
cellular response to molecule of bacterial origin	1
cellular response to lipid	1
cellular response to oxygen-containing compound	1
pyrimidine nucleotide metabolic process	1
pyrimidine-containing compound biosynthetic process	1
nucleoside monophosphate metabolic process	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
transferase activity, transferring phosphorus-containing groups	1
catalytic activity	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1702 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CMPK2	CMPK1	P30085	918
CMPK2	DTYMK	P23919	899
CMPK2	RSAD2	Q8WXG1	800
CMPK2	NME4	O00746	715
CMPK2	USP18	Q9UMW8	669
CMPK2	IFIT1	P09914	666
CMPK2	IFIT5	Q13325	645
CMPK2	DGUOK	P78532	636
CMPK2	AK4	P27144	633
CMPK2	NT5M	Q9NPB1	632
CMPK2	IFIH1	Q9BYX4	627
CMPK2	IFI44L	Q53G44	618
CMPK2	EPSTI1	Q96J88	614
CMPK2	AK3	Q9UIJ7	605
CMPK2	EIF2AK2	P19525	594

IntAct

0 interactions, top by confidence:

BioGRID (2): CMPK2 (Affinity Capture-MS), CMPK2 (Affinity Capture-MS)

ESM2 similar proteins: A1L515, A4D2P6, A6QQD2, A8VU90, E1BDF2, O75808, O88995, P0CG25, P22083, Q0IIA6, Q2TA57, Q3B7L1, Q3MIP1, Q3U5Q7, Q3UR50, Q3UR97, Q3UV16, Q400G9, Q5BKX5, Q5EBM0, Q5GH72, Q5SZI1, Q5TM19, Q5U4P2, Q62994, Q659K9, Q6PRD1, Q7Z736, Q861W0, Q86UR1, Q8BNN1, Q8C0R7, Q8CG70, Q8IUW3, Q8IVL6, Q8N398, Q8NAG6, Q8NCW0, Q8R2H1, Q8VCE9

Diamond homologs: Q3U5Q7, Q5EBM0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	1
Uncertain significance	98
Likely benign	9
Benign	0

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
3381199	NM_207315.4(CMPK2):c.2T>C (p.Met1Thr)	Pathogenic
3381200	NM_207315.4(CMPK2):c.1A>C (p.Met1Leu)	Pathogenic
3381201	NM_207315.4(CMPK2):c.1241A>G (p.Tyr414Cys)	Pathogenic
2664507	GRCh37/hg19 2p25.2-25.1(chr2:5689487-7379378)x3	Likely pathogenic

SpliceAI

965 predictions. Top by Δscore:

Variant	Effect	Δscore
2:6861179:CCTA:C	donor_loss	1.0000
2:6861181:TAC:T	donor_loss	1.0000
2:6861182:ACC:A	donor_loss	1.0000
2:6861382:TTACC:T	acceptor_loss	1.0000
2:6861384:ACCT:A	acceptor_loss	1.0000
2:6861385:CCTG:C	acceptor_loss	1.0000
2:6861387:T:A	acceptor_loss	1.0000
2:6863458:TCTTA:T	donor_loss	1.0000
2:6863459:CTTA:C	donor_loss	1.0000
2:6863460:TTA:T	donor_loss	1.0000
2:6863461:TACCC:T	donor_loss	1.0000
2:6863462:A:T	donor_loss	1.0000
2:6863462:AC:A	donor_gain	1.0000
2:6863463:CC:C	donor_gain	1.0000
2:6863577:CA:C	acceptor_gain	1.0000
2:6863579:C:CC	acceptor_gain	1.0000
2:6865016:TCTTA:T	donor_loss	1.0000
2:6865017:CTTAC:C	donor_loss	1.0000
2:6865018:TTA:T	donor_loss	1.0000
2:6865019:TA:T	donor_loss	1.0000
2:6865020:A:AT	donor_loss	1.0000
2:6865020:ACCT:A	donor_gain	1.0000
2:6865021:C:CT	donor_loss	1.0000
2:6865021:CCTC:C	donor_gain	1.0000
2:6865023:T:TA	donor_gain	1.0000
2:6849969:CTACC:C	acceptor_gain	0.9900
2:6849972:CC:C	acceptor_gain	0.9900
2:6849973:CC:C	acceptor_gain	0.9900
2:6861183:CCTGT:C	donor_gain	0.9900
2:6861386:C:CC	acceptor_gain	0.9900

AlphaMissense

2871 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:6861382:T:A	K265I	0.997
2:6851592:A:G	W362R	0.996
2:6851592:A:T	W362R	0.996
2:6851671:G:C	S335R	0.996
2:6851671:G:T	S335R	0.996
2:6851673:T:G	S335R	0.996
2:6861184:C:A	R331M	0.996
2:6863479:C:G	G259R	0.995
2:6863479:C:T	G259R	0.995
2:6861383:T:G	K265Q	0.994
2:6851651:G:T	A342D	0.993
2:6851679:A:G	W333R	0.993
2:6851679:A:T	W333R	0.993
2:6861381:T:A	K265N	0.993
2:6861381:T:G	K265N	0.993
2:6851579:A:G	L366P	0.992
2:6861184:C:G	R331T	0.991
2:6861243:A:C	N311K	0.991
2:6861243:A:T	N311K	0.991
2:6861258:A:C	F306L	0.991
2:6861258:A:T	F306L	0.991
2:6861260:A:G	F306L	0.991
2:6851590:C:A	W362C	0.990
2:6851590:C:G	W362C	0.990
2:6861382:T:G	K265T	0.990
2:6861385:C:T	G264D	0.990
2:6863470:C:G	A262P	0.990
2:6863471:A:C	D261E	0.990
2:6863471:A:T	D261E	0.990
2:6863472:T:A	D261V	0.990

dbSNP variants (sampled 300 via entrez): RS1000197199 (2:6856404 G>A), RS1000218848 (2:6854104 G>A), RS1000248419 (2:6845585 A>C), RS1000305363 (2:6855602 A>G), RS1000563095 (2:6856822 C>T), RS1000582875 (2:6851287 G>A), RS1000836318 (2:6843932 C>A,T), RS1001027411 (2:6860918 T>C), RS1001039768 (2:6857017 T>C), RS1001046885 (2:6867325 C>T), RS1001255321 (2:6841071 A>G), RS1001279626 (2:6845874 G>A), RS1001351489 (2:6841280 G>A), RS1001423385 (2:6840206 A>G), RS1001562174 (2:6857313 T>C)

Disease associations

OMIM: gene MIM:611787 | disease phenotypes: MIM:621018

GenCC curated gene-disease

Disease	Classification	Inheritance
basal ganglia calcification, idiopathic, 10, autosomal recessive	Limited	Autosomal recessive

Mondo (2): syndromic craniosynostosis (MONDO:0015338), basal ganglia calcification, idiopathic, 10, autosomal recessive (MONDO:0975875)

Orphanet (1): Syndromic craniosynostosis (Orphanet:139393)

HPO phenotypes

48 total (30 of 48 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000012	Urinary urgency
HP:0000298	Mask-like facies
HP:0000709	Psychosis
HP:0000726	Dementia
HP:0000739	Anxiety
HP:0000751	Personality changes
HP:0000802	Impotence
HP:0000822	Hypertension
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001260	Dysarthria
HP:0001266	Choreoathetosis
HP:0001332	Dystonia
HP:0001337	Tremor
HP:0001350	Slurred speech
HP:0002015	Dysphagia
HP:0002063	Rigidity
HP:0002067	Bradykinesia
HP:0002135	Basal ganglia calcification
HP:0002312	Clumsiness
HP:0002315	Headache
HP:0002317	Unsteady gait
HP:0002321	Vertigo
HP:0002344	Progressive neurologic deterioration
HP:0002354	Memory impairment
HP:0002401	Stroke-like episode
HP:0003165	Elevated circulating parathyroid hormone level
HP:0003388	Easy fatigability
HP:0003394	Muscle spasm

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST007324_2	Adventurousness	7.000000e-10
GCST007325_243	General risk tolerance (MTAG)	2.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008579	risk-taking behaviour

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects expression, affects methylation, decreases expression, increases expression	4
Valproic Acid	decreases expression, increases expression	4
Estradiol	affects cotreatment, decreases expression, increases expression	3
bisphenol A	decreases expression, increases expression	2
Acetaminophen	decreases expression	2
Lipopolysaccharides	decreases reaction, increases expression, affects binding, increases reaction, affects cotreatment	2
TL8-506	affects cotreatment, increases expression	1
alpha phellandrene	increases expression	1
perfluorooctanoic acid	decreases expression	1
benzo(e)pyrene	increases methylation	1
ferrous chloride	decreases expression	1
nickel sulfate	decreases expression	1
hydroquinone	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases reaction, affects cotreatment, increases expression	1
epigallocatechin gallate	decreases expression	1
2-chloro-5-nitrobenzanilide	decreases reaction, increases expression	1
belinostat	decreases expression	1
bisphenol S	increases expression	1
(+)-JQ1 compound	decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	increases methylation	1
Cannabidiol	decreases reaction, increases expression, affects binding, increases reaction, decreases expression	1
Carbamazepine	affects expression	1
Chenodeoxycholic Acid	affects cotreatment, increases expression	1
Cisplatin	increases expression	1
Deoxycholic Acid	affects cotreatment, increases expression	1
Diclofenac	affects expression	1
Dinitrochlorobenzene	decreases expression	1
Doxorubicin	decreases expression	1
Glycochenodeoxycholic Acid	affects cotreatment, increases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1EX	Abcam A-549 CMPK2 KO 2	Cancer cell line	Male
CVCL_B2MF	Abcam A-549 CMPK2 KO 1	Cancer cell line	Male

Clinical trials (associated diseases)

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