CABIN1

Summary

CABIN1 (calcineurin binding protein 1, HGNC:24187) is a protein-coding gene on chromosome 22q11.23, encoding Calcineurin-binding protein cabin-1 (Q9Y6J0). May be required for replication-independent chromatin assembly.

Calcineurin plays an important role in the T-cell receptor-mediated signal transduction pathway. The protein encoded by this gene binds specifically to the activated form of calcineurin and inhibits calcineurin-mediated signal transduction. The encoded protein is found in the nucleus and contains a leucine zipper domain as well as several PEST motifs, sequences which confer targeted degradation to those proteins which contain them. Alternative splicing results in multiple transcript variants encoding two different isoforms.

Source: NCBI Gene 23523 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurofibromatosis (Limited, GenCC)
• GWAS associations: 7
• Clinical variants (ClinVar): 448 total
• MANE Select transcript: NM_012295

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24187
Approved symbol	CABIN1
Name	calcineurin binding protein 1
Location	22q11.23
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0330, PPP3IN
Ensembl gene	ENSG00000099991
Ensembl biotype	protein_coding
OMIM	604251
Entrez	23523

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 12 protein_coding, 5 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000263119, ENST00000337989, ENST00000398319, ENST00000405822, ENST00000445422, ENST00000454754, ENST00000459824, ENST00000467937, ENST00000474981, ENST00000484593, ENST00000485008, ENST00000495121, ENST00000496016, ENST00000617531, ENST00000883785, ENST00000883786, ENST00000883787, ENST00000883788, ENST00000940067

RefSeq mRNA: 3 — MANE Select: NM_012295 NM_001199281, NM_001201429, NM_012295

CCDS: CCDS13823, CCDS74830

Canonical transcript exons

ENST00000263119 — 37 exons

Exon	Start	End
ENSE00000651602	24038348	24038461
ENSE00000651603	24041139	24041273
ENSE00000651604	24042904	24043084
ENSE00000651605	24049091	24049220
ENSE00000651606	24050825	24050974
ENSE00000651607	24054873	24055159
ENSE00000651608	24056192	24056360
ENSE00000651609	24059227	24059363
ENSE00000651610	24059924	24060141
ENSE00000651611	24061947	24062025
ENSE00000651612	24062959	24063146
ENSE00000651613	24064035	24064187
ENSE00000651615	24070800	24071042
ENSE00000651616	24072354	24072510
ENSE00000651617	24076169	24076284
ENSE00000651618	24083228	24083389
ENSE00000651619	24084579	24084785
ENSE00000651620	24085006	24085151
ENSE00000651622	24087452	24087713
ENSE00000651625	24091583	24091843
ENSE00000651626	24095931	24096082
ENSE00000651628	24098014	24098192
ENSE00000651631	24119367	24119698
ENSE00000651632	24134302	24134415
ENSE00000651635	24164400	24164563
ENSE00000651649	24176111	24176275
ENSE00000879517	24165530	24165626
ENSE00000879518	24166639	24167313
ENSE00001256688	24066987	24067181
ENSE00001256752	24177504	24177817
ENSE00001257233	24036089	24036181
ENSE00001257253	24178053	24178628
ENSE00001361081	24035444	24035520
ENSE00003521419	24168447	24168521
ENSE00003539870	24113566	24113748
ENSE00003567260	24171713	24171995
ENSE00003845647	24011304	24011367

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 97.95.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.9649 / max 205.0809, expressed in 1808 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
191354	7.5016	1725
191353	6.0658	1668
191352	4.3928	1509
191359	2.3776	601
191361	2.1064	859
191364	0.6201	260
191360	0.4492	247
191363	0.2731	131
191362	0.1784	70

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	97.95	gold quality
cerebellar hemisphere	UBERON:0002245	97.84	gold quality
cerebellar cortex	UBERON:0002129	97.81	gold quality
cerebellum	UBERON:0002037	97.28	gold quality
paraflocculus	UBERON:0005351	96.69	gold quality
granulocyte	CL:0000094	96.59	gold quality
right uterine tube	UBERON:0001302	96.52	gold quality
right lobe of thyroid gland	UBERON:0001119	96.51	gold quality
right coronary artery	UBERON:0001625	96.46	gold quality
apex of heart	UBERON:0002098	96.22	gold quality
left lobe of thyroid gland	UBERON:0001120	96.14	gold quality
popliteal artery	UBERON:0002250	96.12	gold quality
tibial artery	UBERON:0007610	96.11	gold quality
sural nerve	UBERON:0015488	95.97	gold quality
descending thoracic aorta	UBERON:0002345	95.83	gold quality
adenohypophysis	UBERON:0002196	95.56	gold quality
thyroid gland	UBERON:0002046	95.53	gold quality
aorta	UBERON:0000947	95.42	gold quality
pituitary gland	UBERON:0000007	95.03	gold quality
mucosa of stomach	UBERON:0001199	94.97	gold quality
coronary artery	UBERON:0001621	94.85	gold quality
left coronary artery	UBERON:0001626	94.80	gold quality
right frontal lobe	UBERON:0002810	94.75	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	94.70	gold quality
thoracic aorta	UBERON:0001515	94.55	gold quality
endocervix	UBERON:0000458	94.52	gold quality
ascending aorta	UBERON:0001496	94.49	gold quality
lower esophagus muscularis layer	UBERON:0035833	94.23	gold quality
lower esophagus	UBERON:0013473	94.22	gold quality
blood	UBERON:0000178	94.02	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.29
E-MTAB-6386	no	560.71

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, JUN, MEF2A, NR3C2, NR4A1

miRNA regulators (miRDB)

13 targeting CABIN1, 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-6721-5P	99.93	68.92	2981
HSA-MIR-376A-3P	99.06	69.17	1128
HSA-MIR-376B-3P	99.06	69.17	1128
HSA-MIR-4717-3P	99.06	66.34	1072
HSA-MIR-10524-5P	99.05	66.08	963
HSA-MIR-6846-5P	98.81	65.86	1121
HSA-MIR-6742-3P	97.95	64.50	1490
HSA-MIR-5194	96.77	63.91	1021
HSA-MIR-4296	96.35	63.55	1233
HSA-MIR-6738-5P	96.33	63.61	815
HSA-MIR-4265	96.18	64.68	557
HSA-MIR-4322	96.18	64.85	539
HSA-MIR-1914-3P	95.07	63.37	762

Literature-anchored findings (GeneRIF, showing 12)

• Crystal structure of the MADS-box/MEF2S domain of human MEF2B bound to a motif of the transcriptional co-repressor Cabin1 and DNA at 2.2 A resolution (PMID:12700764)
• there is a 13-amino acid region within CN that is essential for the interaction with NFAT and with two other CN-binding proteins, AKAP79 and Cabin-1 (PMID:15671033)
• Here, we report that Cabin1 has additional CN binding domain in its 701-900 amino acid residues. (PMID:17531200)
• Cabin1 inhibits p53 function on chromatin in the quiescent state; the presence of inactive p53 on some promoters might allow a prompt response upon DNA damage. (PMID:19668210)
• the association of CAIN with intracellular domains involved in mGluR/G protein coupling provides a mechanism by which Group I mGluR endocytosis and signaling are regulated (PMID:19717561)
• CABIN1 may not confer increased susceptibility for schizophrenia in the Japanese population. (PMID:20075944)
• Data show that, like HIRA, UBN1, and ASF1a, CABIN1 is involved in heterochromatinization of the genome of senescent human cells. (PMID:21807893)
• Our findings demonstrate that hCABIN-1 plays a critical role in promoting apoptosis of fibroblast-like synoviocytes and in attenuating inflammation and cartilage and bone destruction in rheumatoid arthritis. (PMID:22275266)
• NHRD domain of UBN1 as being an essential region for HIRA interaction and chromatin organization by the HUCA complex (PMID:22401310)
• Two new susceptibility loci for amyotrophic lateral sclerosis in the Han Chinese population in chromosome 1, CAMK1G and chromosome 22, SUSD2 and CABIN1. (PMID:23624525)
• Results indicate an important role for LMP1 and Cabin1 in regulating apoptosis in nasopharyngeal carcinoma cells in response to genotoxic stress. (PMID:23939952)
• analysis of the trimeric HIRA, UBN1 and CABIN1 H3.3 histone chaperone complex (PMID:30082790)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	cabin1	ENSDARG00000079326
danio_rerio	si:ch73-313l22.2	ENSDARG00000094868
mus_musculus	Cabin1	ENSMUSG00000020196
rattus_norvegicus	Cabin1	ENSRNOG00000001237

Protein

Protein identifiers

Calcineurin-binding protein cabin-1 — Q9Y6J0 (reviewed: Q9Y6J0)

Alternative names: Calcineurin inhibitor

All UniProt accessions (5): Q9Y6J0, A0A087WWW8, B5MEB3, C9J068, C9JT60

UniProt curated annotations — full annotation on UniProt →

Function. May be required for replication-independent chromatin assembly. May serve as a negative regulator of T-cell receptor (TCR) signaling via inhibition of calcineurin. Inhibition of activated calcineurin is dependent on both PKC and calcium signals. Acts as a negative regulator of p53/TP53 by keeping p53 in an inactive state on chromatin at promoters of a subset of its target genes.

Subunit / interactions. Component of a complex that includes at least ASF1A, CABIN1, HIRA, histone H3.3 and UBN1. Interacts with calcineurin. Interacts with MEF2B.

Subcellular location. Nucleus.

Tissue specificity. Widely expressed in different tissues.

Post-translational modifications. Activated through PKC-mediated hyperphosphorylation. Phosphorylation by the DNA damage kinases ATM and CHK2 enhances ubiquitination. Upon genotoxic stress, ubiquitination by the DCX(DDB2) E3 ubiquitin-protein ligase complex targets CABIN1 for proteasomal degradation, leading to the release of p53/TP53.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9Y6J0-1	1	yes
Q9Y6J0-2	2

RefSeq proteins (3): NP_001186210, NP_001188358, NP_036427* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR015134	MEF2-bd	Domain
IPR019734	TPR_rpt	Repeat
IPR033053	Hir3/CABIN1	Family

Pfam: PF09047

UniProt features (50 total): compositionally biased region 14, modified residue 13, repeat 6, region of interest 6, sequence variant 6, splice variant 2, chain 1, mutagenesis site 1, helix 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1N6J	X-RAY DIFFRACTION	2.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y6J0-F1	65.03	0.25

Functional residue map

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

Post-translational modifications (13): 10, 11, 12, 20, 66, 433, 450, 673, 1439, 1924, 2094, 2151, 2154

Mutagenesis-validated functional residues (1):

Position	Phenotype
2172	abrogates binding to mef2b.

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-2559584	Formation of Senescence-Associated Heterochromatin Foci (SAHF)
R-HSA-2262752	Cellular responses to stress
R-HSA-2559583	Cellular Senescence
R-HSA-2559586	DNA Damage/Telomere Stress Induced Senescence
R-HSA-8953897	Cellular responses to stimuli

MSigDB gene sets: 128 (showing top): PID_NFAT_3PATHWAY, AMIT_EGF_RESPONSE_480_MCF10A, FONTAINE_PAPILLARY_THYROID_CARCINOMA_DN, GOBP_REGULATION_OF_CHROMATIN_ORGANIZATION, GOBP_PROTEIN_DNA_COMPLEX_ORGANIZATION, BIOCARTA_HDAC_PATHWAY, MODULE_397, GOBP_CHROMATIN_REMODELING, SCHLOSSER_SERUM_RESPONSE_AUGMENTED_BY_MYC, PARENT_MTOR_SIGNALING_UP, GOMF_CHROMATIN_BINDING, GOMF_PHOSPHATASE_INHIBITOR_ACTIVITY, GOMF_NUCLEOSOME_BINDING, GOMF_ENZYME_INHIBITOR_ACTIVITY, GOMF_ENZYME_REGULATOR_ACTIVITY

GO Biological Process (3): nucleosome assembly (GO:0006334), cell surface receptor signaling pathway (GO:0007166), chromatin organization (GO:0006325)

GO Molecular Function (3): protein phosphatase inhibitor activity (GO:0004864), protein binding (GO:0005515), nucleosome binding (GO:0031491)

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), aggresome (GO:0016235)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
DNA Damage/Telomere Stress Induced Senescence	1
Cellular responses to stimuli	1
Cellular responses to stress	1
Cellular Senescence	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
chromatin organization	1
nucleosome organization	1
protein-DNA complex assembly	1
signal transduction	1
cellular component organization	1
phosphoprotein phosphatase activity	1
phosphatase inhibitor activity	1
protein phosphatase regulator activity	1
binding	1
chromatin binding	1
protein-containing complex binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1
inclusion body	1

Protein interactions and networks

STRING

1410 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CABIN1	UBN1	Q9NPG3	997
CABIN1	HIRA	P54198	993
CABIN1	ASF1A	Q9Y294	973
CABIN1	MEF2B	Q02080	875
CABIN1	MEF2D	Q14814	846
CABIN1	UBN2	Q6ZU65	838
CABIN1	CALM1	P02593	835
CABIN1	CALML6	Q8TD86	835
CABIN1	CALML3	P27482	835
CABIN1	CALML5	Q9NZT1	835
CABIN1	CALML4	Q96GE6	835
CABIN1	HDAC9	Q9UKV0	796
CABIN1	MEF2A	Q02078	732
CABIN1	AKAP5	P24588	710
CABIN1	NR4A1	P22736	665

IntAct

80 interactions, top by confidence:

A	B	Type	Score
EAF1	ELL2	psi-mi:“MI:0914”(association)	0.840
MEF2B	CABIN1	psi-mi:“MI:0915”(physical association)	0.760
TFAP4	ANGPTL7	psi-mi:“MI:0914”(association)	0.640
ASF1A	HAT1	psi-mi:“MI:0914”(association)	0.640
ASF1B	HAT1	psi-mi:“MI:0914”(association)	0.640
XAGE1A	THAP12	psi-mi:“MI:0914”(association)	0.530
ASF1A	MCM4	psi-mi:“MI:0914”(association)	0.530
RBBP4	TNRC18	psi-mi:“MI:0914”(association)	0.530
HMGA1	MACROH2A1	psi-mi:“MI:0914”(association)	0.530
HIRA	CSPG5	psi-mi:“MI:0914”(association)	0.530
	MEF2B	psi-mi:“MI:0915”(physical association)	0.520
H3C1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.410
CABIN1	H1-1	psi-mi:“MI:0915”(physical association)	0.400
CABIN1		psi-mi:“MI:0915”(physical association)	0.400
ASF1A	CDAN1	psi-mi:“MI:0914”(association)	0.350
MEF2A	REV3L	psi-mi:“MI:0914”(association)	0.350
TCF7L2	LOC401309	psi-mi:“MI:0914”(association)	0.350
CDX1	ZNF724	psi-mi:“MI:0914”(association)	0.350
ASF1B	HAT1	psi-mi:“MI:0914”(association)	0.350
TLK2	RPS27A	psi-mi:“MI:0914”(association)	0.350

BioGRID (140): CABIN1 (Affinity Capture-MS), CABIN1 (Proximity Label-MS), CABIN1 (Affinity Capture-MS), CABIN1 (Affinity Capture-MS), CABIN1 (Affinity Capture-MS), CABIN1 (Affinity Capture-MS), CABIN1 (Affinity Capture-MS), CABIN1 (Affinity Capture-MS), CABIN1 (Affinity Capture-MS), CABIN1 (Affinity Capture-MS), CABIN1 (Affinity Capture-MS), CABIN1 (Affinity Capture-MS), CABIN1 (Affinity Capture-MS), CABIN1 (Affinity Capture-Western), CABIN1 (Affinity Capture-MS)

ESM2 similar proteins: A0JM23, A0M8T3, A1X154, A6H7D1, A7MBF6, A8Y5U1, B1WC10, E9Q9R9, F1M649, F1MHT9, O00750, O88480, O95876, P0CI65, P50851, Q008S8, Q00PJ3, Q07E17, Q07E30, Q07E43, Q09YN0, Q108U1, Q15052, Q2IBF5, Q2IBG0, Q2QLA4, Q2QLB5, Q32NR4, Q32NR9, Q3UP24, Q3V129, Q4V7F0, Q5XXR3, Q5ZLR6, Q692V3, Q6AZT7, Q6P2S7, Q6P3V7, Q6PIY5, Q6ZS30

Diamond homologs: F4JV59, O88480, Q9Y6J0

SIGNOR signaling

5 interactions.

A	Effect	B	Mechanism
CABIN1	down-regulates	MEF2A
CABIN1	down-regulates	MEF2C
CABIN1	down-regulates	MEF2D
CABIN1	“form complex”	“HIRA complex 1”	binding
CABIN1	“form complex”	“HIRA complex 2”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 94 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
SARS-CoV-1-host interactions	5	13.7×	4e-03
mRNA Polyadenylation	7	9.6×	2e-03
Dengue Virus-Host Interactions	10	7.1×	7e-04
mRNA Splicing - Major Pathway	8	6.8×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
nucleosome assembly	10	16.7×	2e-07
chromatin remodeling	8	7.0×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	297
Likely benign	48
Benign	49

Top pathogenic / likely-pathogenic (0)

SpliceAI

7745 predictions. Top by Δscore:

Variant	Effect	Δscore
22:24038343:TGCA:T	acceptor_loss	1.0000
22:24038344:GCAG:G	acceptor_loss	1.0000
22:24038346:A:AG	acceptor_gain	1.0000
22:24038346:AG:A	acceptor_gain	1.0000
22:24038346:AGG:A	acceptor_loss	1.0000
22:24038347:G:GA	acceptor_gain	1.0000
22:24038347:GG:G	acceptor_gain	1.0000
22:24038347:GGA:G	acceptor_gain	1.0000
22:24038347:GGAA:G	acceptor_gain	1.0000
22:24038459:G:GT	donor_gain	1.0000
22:24038459:G:T	donor_gain	1.0000
22:24041138:GGCA:G	acceptor_gain	1.0000
22:24041258:G:GT	donor_gain	1.0000
22:24043085:G:GG	donor_gain	1.0000
22:24049089:A:AG	acceptor_gain	1.0000
22:24049090:G:GG	acceptor_gain	1.0000
22:24049090:GC:G	acceptor_gain	1.0000
22:24049090:GCA:G	acceptor_gain	1.0000
22:24049090:GCAT:G	acceptor_gain	1.0000
22:24049216:AAATG:A	donor_gain	1.0000
22:24049217:AATG:A	donor_gain	1.0000
22:24049217:AATGG:A	donor_loss	1.0000
22:24049218:ATG:A	donor_gain	1.0000
22:24049218:ATGG:A	donor_loss	1.0000
22:24049219:TG:T	donor_gain	1.0000
22:24049219:TGG:T	donor_loss	1.0000
22:24049220:GG:G	donor_gain	1.0000
22:24049220:GGT:G	donor_loss	1.0000
22:24049221:G:GA	donor_loss	1.0000
22:24049221:G:GG	donor_gain	1.0000

AlphaMissense

14485 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:24038369:T:G	Y40D	1.000
22:24038436:T:C	L62P	1.000
22:24041191:T:C	L88P	1.000
22:24043006:G:T	G150W	1.000
22:24056282:C:A	A395D	1.000
22:24056284:C:A	R396S	1.000
22:24056284:C:G	R396G	1.000
22:24056284:C:T	R396C	1.000
22:24072420:T:A	W848R	1.000
22:24072420:T:C	W848R	1.000
22:24083324:T:C	C949R	1.000
22:24083348:A:G	K957E	1.000
22:24084645:T:C	F993L	1.000
22:24084647:T:A	F993L	1.000
22:24084647:T:G	F993L	1.000
22:24084663:A:C	S999R	1.000
22:24084665:C:A	S999R	1.000
22:24084665:C:G	S999R	1.000
22:24085067:T:C	L1060P	1.000
22:24085073:C:A	A1062D	1.000
22:24085075:G:C	D1063H	1.000
22:24085076:A:T	D1063V	1.000
22:24085084:T:C	F1066L	1.000
22:24085085:T:C	F1066S	1.000
22:24085086:C:A	F1066L	1.000
22:24085086:C:G	F1066L	1.000
22:24085087:A:G	K1067E	1.000
22:24085088:A:T	K1067I	1.000
22:24085089:A:C	K1067N	1.000
22:24085089:A:T	K1067N	1.000

dbSNP variants (sampled 300 via entrez): RS1000002803 (22:24108289 C>A,T), RS1000024299 (22:24176818 T>C), RS1000024875 (22:24168949 C>T), RS1000048059 (22:24105611 G>C), RS1000060776 (22:24084751 A>G,T), RS1000069427 (22:24062550 G>A,T), RS1000078440 (22:24083670 G>A), RS1000090765 (22:24147570 TC>T), RS1000094878 (22:24174548 G>A), RS1000098499 (22:24105211 A>G), RS1000106939 (22:24041858 C>T), RS1000124029 (22:24020735 G>A,C), RS1000141757 (22:24041574 A>C,T), RS1000159143 (22:24093221 C>G), RS1000168548 (22:24174359 G>A)

Disease associations

OMIM: gene MIM:604251 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
neurofibromatosis	Limited	Autosomal dominant

Mondo (2): prostate cancer (MONDO:0008315), neurofibromatosis (MONDO:0021061)

Orphanet (1): Familial prostate cancer (Orphanet:1331)

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST001981_2	Amyotrophic lateral sclerosis	2.000000e-09
GCST002481_6	Acne (severe)	6.000000e-07
GCST003483_1	S-phenylmercapturic acid levels in smokers	3.000000e-134
GCST005196_252	Coronary artery disease	1.000000e-07
GCST009733_11	Urinary metabolite levels in chronic kidney disease	3.000000e-37
GCST012490_445	Femur bone mineral density x serum urate levels interaction	8.000000e-10
GCST90002393_586	Monocyte count	6.000000e-10

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0007651	urinary S-phenylmercapturic acid measurement
EFO:0005116	urinary metabolite measurement
EFO:0004531	urate measurement
EFO:0005091	monocyte count

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D017253	Neurofibromatoses	C04.557.580.600.580.590; C04.700.631; C10.562.600; C10.574.500.549; C16.320.400.560; C16.320.700.633
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance	2
Air Pollutants	increases abundance, increases expression, affects cotreatment, decreases expression	2
FR900359	affects phosphorylation	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	increases abundance, affects cotreatment, decreases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
bisphenol S	decreases methylation	1
Irinotecan	decreases expression	1
Arsenic Trioxide	decreases expression	1
Acrolein	affects cotreatment, decreases expression, increases abundance	1
Arsenic	decreases expression, increases abundance	1
Benzo(a)pyrene	decreases expression	1
Caffeine	increases phosphorylation	1
Cannabidiol	decreases expression	1
Doxorubicin	decreases expression	1
Ozone	affects cotreatment, decreases expression, increases abundance	1
Phthalic Acids	increases methylation	1
Quercetin	decreases expression	1
Selenium	increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation	1
Mifepristone	increases expression	1
Aflatoxin B1	decreases methylation	1
Copper Sulfate	decreases expression	1
Acrylamide	decreases expression	1
Particulate Matter	increases abundance, increases expression	1
Volatile Organic Compounds	affects cotreatment, decreases expression	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SG43	HAP1 CABIN1 (-) 1	Cancer cell line	Male
CVCL_XM40	HAP1 CABIN1 (-) 2	Cancer cell line	Male
CVCL_XM41	HAP1 CABIN1 (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	PHASE4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	PHASE4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	PHASE4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	PHASE4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	PHASE4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	PHASE4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	PHASE4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	PHASE4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	PHASE4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	PHASE4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	PHASE4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	PHASE4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	PHASE4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	PHASE4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	PHASE4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	PHASE4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	PHASE4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	PHASE4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	PHASE4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	PHASE4	COMPLETED	Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027	PHASE4	COMPLETED	Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269	PHASE4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277	PHASE4	COMPLETED	Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800	PHASE4	COMPLETED	Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199	PHASE4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	PHASE4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	PHASE4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	PHASE4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672	PHASE4	COMPLETED	3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143	PHASE4	TERMINATED	Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742	PHASE4	UNKNOWN	Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563	PHASE4	COMPLETED	Hydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874	PHASE4	COMPLETED	Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer
NCT01512472	PHASE4	TERMINATED	Firmagon (Degarelix) Intermittent Therapy
NCT01547416	PHASE4	COMPLETED	The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function
NCT01571544	PHASE4	COMPLETED	The Use of Thermal Suits as Preventing Hypothermia During Surgery
NCT01581749	PHASE4	UNKNOWN	Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer
NCT01649635	PHASE4	COMPLETED	Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer