CAMKMT

Summary

CAMKMT (calmodulin-lysine N-methyltransferase, HGNC:26276) is a protein-coding gene on chromosome 2p21, encoding Calmodulin-lysine N-methyltransferase (Q7Z624). Catalyzes the trimethylation of ‘Lys-116’ in calmodulin.

This gene encodes a class I protein methyltransferase that acts in the formation of trimethyllysine in calmodulin. The protein contains a AdoMet-binding motif and may play a role in calcium-dependent signaling.

Source: NCBI Gene 79823 — RefSeq curated summary.

At a glance

• GWAS associations: 26
• Clinical variants (ClinVar): 86 total — 3 pathogenic
• Phenotypes (HPO): 19
• MANE Select transcript: NM_024766

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26276
Approved symbol	CAMKMT
Name	calmodulin-lysine N-methyltransferase
Location	2p21
Locus type	gene with protein product
Status	Approved
Aliases	CLNMT
Ensembl gene	ENSG00000143919
Ensembl biotype	protein_coding
OMIM	609559
Entrez	79823

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 5 protein_coding, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000378494, ENST00000402247, ENST00000403853, ENST00000407131, ENST00000428929, ENST00000428993, ENST00000454433, ENST00000477623, ENST00000477830

RefSeq mRNA: 1 — MANE Select: NM_024766 NM_024766

CCDS: CCDS1820

Canonical transcript exons

ENST00000378494 — 11 exons

Exon	Start	End
ENSE00001159027	44372716	44372888
ENSE00001298716	44766430	44766561
ENSE00001308254	44754055	44754118
ENSE00001329032	44743622	44743696
ENSE00001477705	44772036	44772592
ENSE00003498715	44707399	44707462
ENSE00003539666	44706287	44706341
ENSE00003570049	44715287	44715353
ENSE00003591328	44390241	44390305
ENSE00003647584	44704283	44704343
ENSE00003850095	44361947	44362145

Expression profiles

Bgee: expression breadth ubiquitous, 223 present calls, max score 84.99.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.6013 / max 312.3710, expressed in 1762 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
19999	9.0307	1759
20007	0.2050	12
20001	0.1338	39
20005	0.1228	6
20000	0.0837	16
20006	0.0254	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
nucleus accumbens	UBERON:0001882	84.99	gold quality
left testis	UBERON:0004533	84.38	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.12	gold quality
right testis	UBERON:0004534	83.79	gold quality
cranial nerve II	UBERON:0000941	83.16	gold quality
anterior cingulate cortex	UBERON:0009835	83.13	gold quality
caudate nucleus	UBERON:0001873	83.06	gold quality
cingulate cortex	UBERON:0003027	83.06	gold quality
calcaneal tendon	UBERON:0003701	82.89	gold quality
putamen	UBERON:0001874	82.72	gold quality
testis	UBERON:0000473	82.44	gold quality
gastrocnemius	UBERON:0001388	81.80	gold quality
body of pancreas	UBERON:0001150	81.66	gold quality
right frontal lobe	UBERON:0002810	81.54	gold quality
lower esophagus mucosa	UBERON:0035834	81.21	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.19	gold quality
Brodmann (1909) area 9	UBERON:0013540	81.14	gold quality
muscle of leg	UBERON:0001383	81.10	gold quality
amygdala	UBERON:0001876	80.66	gold quality
mucosa of transverse colon	UBERON:0004991	80.43	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	80.18	gold quality
hypothalamus	UBERON:0001898	79.99	gold quality
prefrontal cortex	UBERON:0000451	79.90	gold quality
pancreas	UBERON:0001264	79.80	gold quality
monocyte	CL:0000576	79.34	gold quality
colonic epithelium	UBERON:0000397	79.24	gold quality
cerebellar cortex	UBERON:0002129	79.21	gold quality
cerebellar hemisphere	UBERON:0002245	79.20	gold quality
mononuclear cell	CL:0000842	79.18	gold quality
descending thoracic aorta	UBERON:0002345	79.15	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.32
E-ENAD-17	no	642.82

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

26 targeting CAMKMT, 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-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-4789-5P	99.98	70.76	2721
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-1249-5P	99.61	66.55	2049
HSA-MIR-6797-5P	99.61	66.55	2084
HSA-MIR-6839-3P	99.39	68.86	1301
HSA-MIR-12135	98.99	70.26	1814
HSA-MIR-6760-5P	98.87	66.73	1515
HSA-MIR-629-5P	98.78	68.72	1032
HSA-MIR-3938	98.72	66.07	834
HSA-MIR-4710	98.61	65.96	1048
HSA-MIR-5589-5P	98.34	64.82	1148
HSA-MIR-6883-3P	97.97	67.35	643
HSA-MIR-4275	97.96	68.42	1549
HSA-MIR-1289	97.46	65.37	655
HSA-MIR-1468-5P	94.18	69.04	176
HSA-MIR-136-3P	93.27	66.31	131

Literature-anchored findings (GeneRIF, showing 5)

• a deletion of C2orf34 causes atypical hypotonia-cystinuria syndrome (PMID:18234729)
• Two key transcription factors, NRF-2 and YY-1, were further identified to coordinately participate in driving gene expressions of PREPL-C2ORF34 genes pairin an additive manner. (PMID:19575798)
• Calmodulin methyltransferase is an evolutionarily conserved enzyme that trimethylates Lys-115 in calmodulin. (PMID:20975703)
• The CaM KMT is the major, possibly the single, methyltransferase of calmodulin in human cells with a wide tissue distribution and is a novel Hsp90 client protein. (PMID:23285036)
• Deletion of CAMKMT is associated with Hypotonia-cystinuria syndrome. (PMID:23794250)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	camkmt	ENSDARG00000091900
danio_rerio	camkmt	ENSDARG00000095224
mus_musculus	Camkmt	ENSMUSG00000071037
rattus_norvegicus	Camkmt	ENSRNOG00000030629
drosophila_melanogaster	CG10947	FBGN0032857

Protein

Protein identifiers

Calmodulin-lysine N-methyltransferase — Q7Z624 (reviewed: Q7Z624)

All UniProt accessions (6): Q7Z624, B5MC16, B5MC79, H7C2N4, H7C2T0, H7C3B0

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the trimethylation of ‘Lys-116’ in calmodulin.

Subunit / interactions. Monomer. Interacts with HSP90, probably as a client.

Subcellular location. Cytoplasm. Nucleus Golgi apparatus.

Tissue specificity. Isoform 1 is expressed in brain, liver, muscle colon and lung. Isoform 2 is expressed in colon, testis, kidney and brain. Isoform 1 and isoform 2 are expressed in normal lymphoblastoid cells but not in lymphoblastoid cells from patients with hypotonia-cystinuria syndrome.

Disease relevance. Hypotonia-cystinuria syndrome (HCS) [MIM:606407] Characterized generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to thrive, followed by hyperphagia and rapid weight gain in late childhood. The gene represented in this entry is involved in disease pathogenesis. A homozygous 77.4-kb deletion that disrupts the gene represented in this entry, PREPL, and SLC3A1, causes atypical hypotonia-cystinuria syndrome, characterized by mild to moderate intellectual disability and respiratory chain complex IV deficiency.

Similarity. Belongs to the class I-like SAM-binding methyltransferase superfamily. CLNMT methyltransferase family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q7Z624-1	1	yes
Q7Z624-2	2

RefSeq proteins (1): NP_079042* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019410	Methyltransf_16	Family
IPR025800	CaM-Lys-N-MeTrfase	Family
IPR029063	SAM-dependent_MTases_sf	Homologous_superfamily

Pfam: PF10294

Enzyme classification (BRENDA):

• EC 2.1.1.60 — calmodulin-lysine N-methyltransferase (BRENDA: 8 organisms, 15 substrates, 10 inhibitors, 8 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

5 substrates with measured Km, best-characterized 5. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
S-ADENOSYL-L-METHIONINE	0.0008–0.002	3
CALMODULIN	—	1
MUSHROOM DEMETHYLCALMODULIN	0.0002	1
OCTOPUS CALMODULIN	—	1
VU-1 CALMODULIN	0.0001	1

Catalyzed reactions (Rhea), 1 shown:

• [calmodulin]-L-lysine + S-adenosyl-L-methionine = [calmodulin]-N(6)-methyl-L-lysine + S-adenosyl-L-homocysteine + H(+) (RHEA:21556)

UniProt features (31 total): helix 11, strand 10, turn 4, splice variant 2, chain 1, region of interest 1, compositionally biased region 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
4PWY	X-RAY DIFFRACTION	1.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z624-F1	85.97	0.69

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-2514859	Inactivation, recovery and regulation of the phototransduction cascade
R-HSA-8876725	Protein methylation

MSigDB gene sets: 170 (showing top): GOBP_CELLULAR_RESPONSE_TO_LIGHT_STIMULUS, GOBP_PHOTOTRANSDUCTION, YY1_Q6, MODULE_205, GOBP_PHOTOTRANSDUCTION_VISIBLE_LIGHT, GOBP_RESPONSE_TO_RADIATION, CCCNNNNNNAAGWT_UNKNOWN, GOBP_DETECTION_OF_LIGHT_STIMULUS, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOBP_DETECTION_OF_ABIOTIC_STIMULUS, GOBP_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_DETECTION_OF_STIMULUS, GOBP_CELLULAR_RESPONSE_TO_RADIATION, GOBP_METHYLATION, GOBP_RESPONSE_TO_LIGHT_STIMULUS

GO Biological Process (3): mitochondrion organization (GO:0007005), regulation of opsin-mediated signaling pathway (GO:0022400), methylation (GO:0032259)

GO Molecular Function (4): calmodulin-lysine N-methyltransferase activity (GO:0018025), heat shock protein binding (GO:0031072), methyltransferase activity (GO:0008168), transferase activity (GO:0016740)

GO Cellular Component (7): nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), cytosol (GO:0005829), protein-containing complex (GO:0032991), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
The phototransduction cascade	1
Post-translational protein modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
nuclear lumen	2
cytoplasm	2
intracellular membrane-bounded organelle	2
organelle organization	1
regulation of G protein-coupled receptor signaling pathway	1
G protein-coupled opsin signaling pathway	1
regulation of response to external stimulus	1
metabolic process	1
protein-lysine N-methyltransferase activity	1
protein binding	1
transferase activity, transferring one-carbon groups	1
catalytic activity	1
intracellular membraneless organelle	1
intracellular anatomical structure	1
endomembrane system	1
cellular_component	1

Protein interactions and networks

STRING

942 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CAMKMT	PREPL	Q4J6C6	977
CAMKMT	PPM1B	O75688	953
CAMKMT	SLC3A1	Q07837	935
CAMKMT	NDC80	O14777	735
CAMKMT	ETFBKMT	Q8IXQ9	661
CAMKMT	METTL21A	Q8WXB1	649
CAMKMT	METTL22	Q9BUU2	647
CAMKMT	CENPE	Q02224	628
CAMKMT	ASH2L	Q9UBL3	628
CAMKMT	VCPKMT	Q9H867	623
CAMKMT	EHMT2	Q96KQ7	621
CAMKMT	DOT1L	Q8TEK3	620
CAMKMT	PRDM2	Q13029	599
CAMKMT	METTL18	O95568	585
CAMKMT	SUV39H1	O43463	584

IntAct

11 interactions, top by confidence:

A	B	Type	Score
CAMKMT	COL1A1	psi-mi:“MI:0914”(association)	0.530
CAMKMT	H1-5	psi-mi:“MI:0915”(physical association)	0.400
SELENBP1	CAMKMT	psi-mi:“MI:0914”(association)	0.350
CALML3	MYO1C	psi-mi:“MI:0914”(association)	0.350
SPX	ERI3	psi-mi:“MI:0914”(association)	0.350
DEFB110	NME2P1	psi-mi:“MI:0914”(association)	0.350
SELENBP1	ZNF24	psi-mi:“MI:0914”(association)	0.350
SELENBP1	TRMT5	psi-mi:“MI:0914”(association)	0.350
CALM1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350

BioGRID (49): CAMKMT (Affinity Capture-RNA), CAMKMT (Affinity Capture-RNA), RIC8B (Affinity Capture-MS), COL1A1 (Affinity Capture-MS), HECTD1 (Affinity Capture-MS), SNX6 (Affinity Capture-MS), IREB2 (Affinity Capture-MS), SPATA5L1 (Affinity Capture-MS), FEM1B (Affinity Capture-MS), COL1A2 (Affinity Capture-MS), AMBRA1 (Affinity Capture-MS), COL1A2 (Affinity Capture-MS), COL1A1 (Affinity Capture-MS), CAMKMT (Affinity Capture-MS), SNX6 (Affinity Capture-MS)

ESM2 similar proteins: A2AA28, A2RRH5, A4FV42, A6NDL7, A7MCT6, B0K012, B2RYG8, D3YWP0, D3ZRW8, E1B8U2, J3S6Y1, P21964, P50747, Q0V8R7, Q1JP61, Q2TBI8, Q3SZD4, Q3U2J5, Q4VBE8, Q58DC7, Q5E9Y6, Q5RJL2, Q5VZV1, Q6DJF8, Q6GQ33, Q6P9U1, Q7Z624, Q80WC9, Q86XA0, Q8BNV1, Q8C436, Q8CDZ2, Q8IZ69, Q8N371, Q8R1C6, Q8WU66, Q920N2, Q96AZ1, Q96CB9, Q96RR1

Diamond homologs: B0K012, F4JNX3, Q3U2J5, Q6GQ33, Q7Z624, A4FV98, Q05874, Q5BLD8, Q86JB0, Q8WXB1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	65
Likely benign	5
Benign	1

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
393873	GRCh37/hg19 2p21(chr2:44914980-45172628)x1	Pathogenic
4279129	GRCh37/hg19 2p21(chr2:44546016-44631587)x1	Pathogenic
4526826	NC_000002.12:g.(?44507855)(44548633_?)del	Pathogenic

SpliceAI

5768 predictions. Top by Δscore:

Variant	Effect	Δscore
2:44362142:GCAG:G	donor_gain	1.0000
2:44362144:AGGT:A	donor_loss	1.0000
2:44362145:GGT:G	donor_loss	1.0000
2:44362147:T:A	donor_loss	1.0000
2:44390302:GTTT:G	donor_gain	1.0000
2:44390306:G:GG	donor_gain	1.0000
2:44443970:GTA:G	acceptor_gain	1.0000
2:44480024:G:GT	donor_gain	1.0000
2:44480067:GAGC:G	donor_gain	1.0000
2:44480070:C:G	donor_gain	1.0000
2:44707460:G:GT	donor_gain	1.0000
2:44707515:GC:G	donor_gain	1.0000
2:44743621:GC:G	acceptor_gain	1.0000
2:44754047:A:AG	acceptor_gain	1.0000
2:44754049:T:G	acceptor_gain	1.0000
2:44766557:CCAAG:C	donor_loss	1.0000
2:44766558:CAAGG:C	donor_loss	1.0000
2:44766559:AAG:A	donor_loss	1.0000
2:44766560:AGGTT:A	donor_loss	1.0000
2:44766561:GGTT:G	donor_loss	1.0000
2:44766562:G:T	donor_loss	1.0000
2:44766563:T:G	donor_loss	1.0000
2:44772034:A:AG	acceptor_gain	1.0000
2:44772035:G:GG	acceptor_gain	1.0000
2:44362141:GGCAG:G	donor_gain	0.9900
2:44362142:GCAGG:G	donor_gain	0.9900
2:44362143:C:T	donor_gain	0.9900
2:44362146:G:GG	donor_gain	0.9900
2:44373442:A:G	donor_gain	0.9900
2:44390297:G:GT	donor_gain	0.9900

AlphaMissense

2114 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:44743632:T:A	W212R	0.999
2:44743632:T:C	W212R	0.999
2:44743634:G:C	W212C	0.999
2:44743634:G:T	W212C	0.999
2:44704288:T:A	W128R	0.998
2:44704288:T:C	W128R	0.998
2:44754059:T:C	F235L	0.997
2:44754061:T:A	F235L	0.997
2:44754061:T:G	F235L	0.997
2:44706333:G:T	G162W	0.996
2:44743681:T:A	V228D	0.996
2:44743693:A:T	D232V	0.996
2:44704290:G:C	W128C	0.995
2:44704290:G:T	W128C	0.995
2:44743633:G:C	W212S	0.995
2:44743692:G:C	D232H	0.995
2:44707442:G:A	G179E	0.994
2:44390284:T:C	F119L	0.993
2:44390286:T:A	F119L	0.993
2:44390286:T:G	F119L	0.993
2:44706326:C:G	C159W	0.993
2:44707436:C:T	T177I	0.993
2:44743689:G:C	A231P	0.993
2:44743693:A:C	D232A	0.993
2:44754060:T:C	F235S	0.993
2:44704310:C:A	A135D	0.992
2:44706300:T:C	C151R	0.992
2:44706310:G:A	G154E	0.992
2:44743671:T:C	F225L	0.992
2:44743673:T:A	F225L	0.992

dbSNP variants (sampled 300 via entrez): RS1000007622 (2:44365182 A>G), RS1000033758 (2:44665133 C>T), RS1000035144 (2:44417609 T>C), RS1000036992 (2:44519446 G>A), RS1000040288 (2:44364989 T>C,G), RS1000044090 (2:44377737 C>T), RS1000045912 (2:44399084 C>G), RS1000056350 (2:44592623 C>G), RS1000056796 (2:44694983 G>A), RS1000064579 (2:44507844 G>A), RS1000073538 (2:44772334 C>G), RS1000073704 (2:44382995 A>C,T), RS1000075054 (2:44682836 G>A,C), RS1000096255 (2:44429307 G>A,C), RS1000108690 (2:44754214 A>G)

Disease associations

OMIM: gene MIM:609559 | disease phenotypes: MIM:220100

GenCC curated gene-disease

Mondo (1): cystinuria (MONDO:0009067)

Orphanet (1): Cystinuria (Orphanet:214)

HPO phenotypes

19 total (19 of 19 shown, HPO-id order):

HPO	Term
HP:0000135	Hypogonadism
HP:0000358	Posteriorly rotated ears
HP:0000527	Long eyelashes
HP:0000787	Nephrolithiasis
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001508	Failure to thrive
HP:0001510	Growth delay
HP:0001558	Decreased fetal movement
HP:0001611	Hypernasal speech
HP:0001943	Hypoglycemia
HP:0002007	Frontal bossing
HP:0002342	Moderate intellectual disability
HP:0002901	Hypocalcemia
HP:0003128	Lactic acidosis
HP:0003131	Cystinuria
HP:0005280	Depressed nasal bridge
HP:0200125	Mitochondrial respiratory chain defects

GWAS associations

26 associations (top):

Study	Trait	p-value
GCST000817_36	Height	8.000000e-10
GCST001536_2	Immune reponse to smallpox (secreted TNF-alpha)	7.000000e-08
GCST002179_4	Adverse response to chemotherapy in breast cancer (alopecia) (paclitaxel)	1.000000e-06
GCST002647_25	Height	2.000000e-16
GCST003341_12	antipsychotic drug dosage in schizophrenia or schizoaffective disorder	2.000000e-06
GCST003369_1	Anxiety disorder (factor score)	3.000000e-09
GCST003997_16	Myopia	8.000000e-12
GCST006291_99	Spherical equivalent or myopia (age of diagnosis)	8.000000e-09
GCST006941_52	Irritable mood	9.000000e-10
GCST007102_5	Seasonality and depression	5.000000e-06
GCST007324_108	Adventurousness	1.000000e-08
GCST007325_164	General risk tolerance (MTAG)	2.000000e-11
GCST007325_48	General risk tolerance (MTAG)	5.000000e-08
GCST007335_3	Age at first sexual intercourse	1.000000e-11
GCST007565_44	Morning person	1.000000e-14
GCST007565_46	Morning person	7.000000e-15
GCST007576_365	Chronotype	1.000000e-09
GCST010002_389	Refractive error	3.000000e-26
GCST010989_198	Body size at age 10	1.000000e-09
GCST011703_43	Smoking initiation	7.000000e-22
GCST011704_4	Smoking status (current vs never)	4.000000e-08
GCST012490_507	Femur bone mineral density x serum urate levels interaction	3.000000e-08
GCST012490_76	Femur bone mineral density x serum urate levels interaction	1.000000e-10
GCST90000025_737	Appendicular lean mass	2.000000e-09
GCST90000047_31	Age at first sexual intercourse	1.000000e-19
GCST90026610_3	Bevacizumab-induced proteinuria	7.000000e-06

EFO canonical traits (16, from GWAS)

EFO ID	Trait name
EFO:0004645	response to vaccine
EFO:0004873	cytokine measurement
EFO:0007792	antipsychotic drug use measurement
EFO:0007795	anxiety disorder measurement
EFO:0004847	age at onset
EFO:0009594	irritability measurement
EFO:0006876	seasonality measurement
EFO:0008579	risk-taking behaviour
EFO:0009749	age at first sexual intercourse measurement
EFO:0008328	chronotype measurement
EFO:0009819	comparative body size at age 10, self-reported
EFO:0005670	smoking initiation
EFO:0006527	smoking status measurement
EFO:0004531	urate measurement
EFO:0004980	appendicular lean mass
EFO:0005943	response to bevacizumab

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D003555	Cystinuria	C12.050.351.968.419.815.885.250; C12.200.777.419.815.885.250; C12.950.419.815.885.250; C16.320.831.885.250

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	5
Benzo(a)pyrene	decreases expression	3
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tretinoin	decreases expression	2
aristolochic acid I	decreases expression	1
testosterone enanthate	affects expression	1
beta-lapachone	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
2-palmitoylglycerol	increases expression	1
monomethylarsonous acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	decreases expression, affects cotreatment	1
Atrazine	increases expression	1
Cisplatin	affects cotreatment, decreases expression	1
Diethylhexyl Phthalate	increases expression	1
Ethyl Methanesulfonate	decreases expression	1
Formaldehyde	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Quercetin	decreases expression	1
Antirheumatic Agents	increases expression	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02125721	PHASE4	COMPLETED	Effect of Increasing Doses of Cystine Binding Thiol Drugs on Cystine Capacity in Patients With Cystinuria
NCT02910531	PHASE2	COMPLETED	Lipoic Acid Supplement for Cystine Stone
NCT02942420	PHASE2	UNKNOWN	Bucillamine Phase 2 Trial in Patients With Cystinuria
NCT03663855	PHASE2	COMPLETED	Effect of Increasing Doses of Tiopronin on Cystine Capacity in Patients With Cystinuria
NCT04818034	PHASE2	COMPLETED	The Effect of Sodium-glucose Cotransporter (SGLT) 2 Inhibitors on Cystine Stone Formation: A Preliminary Study
NCT05058859	PHASE2	WITHDRAWN	Long Term Clinical Efficacy of Sodium-glucose Cotransporter-2 (SGLT-2) Inhibitor in Cystinurics
NCT04137978	PHASE2/PHASE3	WITHDRAWN	Study Evaluating Patients With Cystinuria
NCT04147871	PHASE2/PHASE3	WITHDRAWN	Study Evaluating Patients With Cystinuria and Efficacy and Safety Exploratory Study in the Youngest Children
NCT00381849	PHASE1/PHASE2	COMPLETED	Use of an Herbal Preparation to Prevent and Dissolve Kidney Stones
NCT00169806	Not specified	ACTIVE_NOT_RECRUITING	Randall’s Plaque Study: Pathogenesis and Relationship to Nephrolithiasis
NCT00588562	Not specified	RECRUITING	Rare Kidney Stone Consortium Patient Registry
NCT02026388	Not specified	RECRUITING	Rare Kidney Stone Consortium Biobank
NCT02120105	Not specified	COMPLETED	Cystine Capacity Clinical Study (CysCap)
NCT02124395	Not specified	COMPLETED	Health-related Quality of Life in Rare Kidney Stone
NCT02538016	Not specified	COMPLETED	TCUPS- Tolvaptan Use in Cystinuria and Urolithiasis: A Pilot Study
NCT02780297	Not specified	RECRUITING	Prospective Research Rare Kidney Stones (ProRKS)
NCT03539926	Not specified	UNKNOWN	This Study Evaluates the Superiority of Daily Self-pH Monitorization of Lit-control®pH Meter Compared to the Monitorization of Reactive Strips (Standard of Care).
NCT03836144	Not specified	COMPLETED	Effect of Urine Alkalinazation on Urinary Inflammatory Markers in Patients With Cystinuria
NCT05048563	Not specified	COMPLETED	Registry of Thiola EC Therapy
NCT06065852	Not specified	RECRUITING	National Registry of Rare Kidney Diseases