ZKSCAN1

Summary

ZKSCAN1 (zinc finger with KRAB and SCAN domains 1, HGNC:13101) is a protein-coding gene on chromosome 7q22.1, encoding Zinc finger protein with KRAB and SCAN domains 1 (P17029). May be involved in transcriptional regulation.

This gene encodes a member of the Kruppel C2H2-type zinc-finger family of proteins. This encoded protein may function as a transcription factor that regulates the expression of GABA type-A receptors in the brain. Transcripts from this gene have been shown to form stable and abundant circular RNAs. Elevated expression of this gene has been observed in gastric cancer and the encoded protein may stimulate migration and invasion of human gastric cancer cells.

Source: NCBI Gene 7586 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 67 total
• MANE Select transcript: NM_003439

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13101
Approved symbol	ZKSCAN1
Name	zinc finger with KRAB and SCAN domains 1
Location	7q22.1
Locus type	gene with protein product
Status	Approved
Aliases	KOX18, PHZ-37, ZSCAN33
Ensembl gene	ENSG00000106261
Ensembl biotype	protein_coding
OMIM	601260
Entrez	7586

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 13 protein_coding, 1 retained_intron

ENST00000324306, ENST00000426572, ENST00000432317, ENST00000482979, ENST00000535170, ENST00000620510, ENST00000875795, ENST00000875796, ENST00000875797, ENST00000875798, ENST00000875799, ENST00000875800, ENST00000931537, ENST00000966834

RefSeq mRNA: 6 — MANE Select: NM_003439 NM_001287054, NM_001287055, NM_001346579, NM_001346580, NM_001346581, NM_003439

CCDS: CCDS34698, CCDS69349, CCDS75640

Canonical transcript exons

ENST00000324306 — 6 exons

Exon	Start	End
ENSE00001312551	100024154	100024307
ENSE00001313021	100030249	100030375
ENSE00001345958	100015596	100015726
ENSE00001433781	100033305	100041689
ENSE00003539778	100029861	100029952
ENSE00003650896	100023419	100023932

Expression profiles

Bgee: expression breadth ubiquitous, 286 present calls, max score 98.20.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 44.4296 / max 542.7415, expressed in 1824 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
79908	38.4071	1822
79910	2.9387	1406
79909	1.2367	878
79907	1.0198	613
79915	0.4469	223
79914	0.2248	55
79913	0.1463	31
79912	0.0094	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
upper leg skin	UBERON:0004262	98.20	gold quality
bronchial epithelial cell	CL:0002328	98.16	gold quality
skin of hip	UBERON:0001554	97.18	gold quality
inferior vagus X ganglion	UBERON:0005363	97.02	gold quality
lateral globus pallidus	UBERON:0002476	96.97	gold quality
subthalamic nucleus	UBERON:0001906	96.92	gold quality
substantia nigra pars reticulata	UBERON:0001966	96.85	gold quality
pylorus	UBERON:0001166	96.67	gold quality
substantia nigra pars compacta	UBERON:0001965	96.36	gold quality
cardia of stomach	UBERON:0001162	96.32	gold quality
globus pallidus	UBERON:0001875	96.04	gold quality
lateral nuclear group of thalamus	UBERON:0002736	96.00	gold quality
urethra	UBERON:0000057	95.87	gold quality
sural nerve	UBERON:0015488	95.85	gold quality
mucosa of paranasal sinus	UBERON:0005030	95.84	gold quality
pigmented layer of retina	UBERON:0001782	95.82	gold quality
medial globus pallidus	UBERON:0002477	95.81	gold quality
mucosa of sigmoid colon	UBERON:0004993	95.67	gold quality
mammary duct	UBERON:0001765	95.64	gold quality
superior vestibular nucleus	UBERON:0007227	95.52	gold quality
epithelium of nasopharynx	UBERON:0001951	95.45	gold quality
colonic mucosa	UBERON:0000317	95.42	gold quality
germinal epithelium of ovary	UBERON:0001304	95.35	gold quality
nipple	UBERON:0002030	95.28	gold quality
ventral tegmental area	UBERON:0002691	95.27	gold quality
postcentral gyrus	UBERON:0002581	95.24	gold quality
jejunal mucosa	UBERON:0000399	95.22	gold quality
seminal vesicle	UBERON:0000998	95.21	gold quality
corpus callosum	UBERON:0002336	95.21	gold quality
parietal lobe	UBERON:0001872	95.10	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-GEOD-125970	yes	8.11
E-CURD-114	yes	7.20
E-GEOD-81547	yes	5.78
E-HCAD-10	yes	4.27
E-MTAB-5061	no	3.28
E-HCAD-31	no	2.37
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

JASPAR motifs

Motif	Name	Family
MA1585.1	ZKSCAN1	More than 3 adjacent zinc fingers
MA1585.2	ZKSCAN1	More than 3 adjacent zinc fingers

JASPAR matrix evidence (PMIDs): PMID:28092692

miRNA regulators (miRDB)

234 targeting ZKSCAN1, 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-12118	100.00	65.88	1270
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-512-3P	99.97	67.35	1049

Literature-anchored findings (GeneRIF, showing 12)

• ZNF139 was involved in GC MDR by promoting expressions of MDR1/P-gp, MRP1 and Bcl-2 and inhibiting Bax simultaneously. (PMID:24515389)
• Knocking down ZNF139 expression in gastric cancer cells could effectively reduce gastric cancer cell invasion and migration ability (PMID:24824930)
• ZNF139 gene may influence the biological behavior of gastric cancer cells in many ways by regulating multiple proteins. (PMID:25436386)
• ZNF139 expression is related to clinicopathologic characteristics and prognosis of gastric cancer. It is overexpressed and involved in apoptosis in GC tissues by regulating caspase-3. (PMID:25561801)
• ZNF139 functions to promote apoptosis resistance of gastric cancer cells by regulating some apoptosis related genes. (PMID:26722429)
• ZKSCAN1, a zinc finger family gene, is expressed in both linear and circular (circZKSCAN1) forms of RNA in human hepatocellular carcinoma (HCC) tissues and cell lines. (PMID:28211215)
• High ZNF139 expression is associated with low chemosensitivity in gastric cancer. (PMID:29956811)
• Dual luciferase activity assay demonstrated that ZNF139 inhibited transcriptional activities of miR-185’s promoter in cells transfected with the reporter plasmid encompassing the upstream promoter region of miR-185 along with pcDNA-ZNF139. Our data reveal that ZNF139 might promote MDR gene MDR1/P-gp, MRP-1 and Bcl-2 by prohibiting miR-185 (PMID:30126848)
• The results revealed that ZKSCAN1 circular RNA exerted its inhibitive role by competitively binding FMRP, therefore, block the binding between FMRP and beta-catenin-binding protein-cell cycle and apoptosis regulator 1 (CCAR1) mRNA, and subsequently restrain the transcriptional activity of Wnt signaling. (PMID:31281495)
• These results reveal that Circ-ZKSCAN1 acts as a tumor suppressor via a novel circ-ZKSCAN1/miR-1178-3p/p21 axis, which have the important role in the proliferation, migration and invasion ablitities of BCa cells and provide a novel perspective on circRNAs in BCa progression. (PMID:31481066)
• CircZKSCAN1 Suppresses Hepatocellular Carcinoma Tumorigenesis by Regulating miR-873-5p/Downregulation of Deleted in Liver Cancer 1. (PMID:33439397)
• A novel polypeptide encoded by the circular RNA ZKSCAN1 suppresses HCC via degradation of mTOR. (PMID:36691031)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Zkscan1	ENSMUSG00000029729
rattus_norvegicus	Zkscan1	ENSRNOG00000001335

Paralogs (30): ZNF263 (ENSG00000006194), ZNF213 (ENSG00000085644), ZNF500 (ENSG00000103199), ZNF205 (ENSG00000122386), ZSCAN9 (ENSG00000137185), PGBD1 (ENSG00000137338), ZNF215 (ENSG00000149054), ZSCAN12 (ENSG00000158691), ZNF394 (ENSG00000160908), ZNF75A (ENSG00000162086), ZSCAN21 (ENSG00000166529), ZNF232 (ENSG00000167840), ZNF24 (ENSG00000172466), ZNF449 (ENSG00000173275), ZSCAN4 (ENSG00000180532), ZSCAN22 (ENSG00000182318), ZNF75D (ENSG00000186376), ZNF396 (ENSG00000186496), ZNF397 (ENSG00000186812), ZSCAN30 (ENSG00000186814), ZKSCAN4 (ENSG00000187626), ZSCAN23 (ENSG00000187987), ZKSCAN3 (ENSG00000189298), ZSCAN16 (ENSG00000196812), ZSCAN25 (ENSG00000197037), ZSCAN26 (ENSG00000197062), ZNF165 (ENSG00000197279), ZKSCAN8 (ENSG00000198315), ZSCAN31 (ENSG00000235109), ZNF853 (ENSG00000236609)

Protein

Protein identifiers

Zinc finger protein with KRAB and SCAN domains 1 — P17029 (reviewed: P17029)

Alternative names: Zinc finger protein 139, Zinc finger protein 36, Zinc finger protein KOX18

All UniProt accessions (4): P17029, B3KRF7, C9JRM9, E9PC66

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation.

Subcellular location. Nucleus.

Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.

RefSeq proteins (6): NP_001273983, NP_001273984, NP_001333508, NP_001333509, NP_001333510, NP_003430* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001909	KRAB	Domain
IPR003309	SCAN_dom	Domain
IPR013087	Znf_C2H2_type	Domain
IPR036051	KRAB_dom_sf	Homologous_superfamily
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR038269	SCAN_sf	Homologous_superfamily

Pfam: PF00096, PF01352, PF02023

UniProt features (28 total): cross-link 12, zinc finger region 6, domain 2, region of interest 2, compositionally biased region 2, modified residue 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P17029-F1	59.61	0.11

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 (14): 13, 208, 27, 181, 228, 280, 299, 304, 339, 375, 412, 440, 478, 560

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 155 (showing top): TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, AGGCACT_MIR5153P, PATIL_LIVER_CANCER, BROWNE_HCMV_INFECTION_14HR_DN, STREICHER_LSM1_TARGETS_UP, IVANOVA_HEMATOPOIESIS_STEM_CELL_LONG_TERM, CHARAFE_BREAST_CANCER_LUMINAL_VS_MESENCHYMAL_UP, DACOSTA_UV_RESPONSE_VIA_ERCC3_XPCS_UP, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, WONG_ADULT_TISSUE_STEM_MODULE, DUTERTRE_ESTRADIOL_RESPONSE_24HR_DN, BHAT_ESR1_TARGETS_NOT_VIA_AKT1_DN, BHAT_ESR1_TARGETS_VIA_AKT1_DN

GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (8): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), zinc ion binding (GO:0008270), identical protein binding (GO:0042802), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872), sequence-specific double-stranded DNA binding (GO:1990837)

GO Cellular Component (1): nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RNA Polymerase II Transcription	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
transition metal ion binding	1
protein binding	1
nucleic acid binding	1
binding	1
cation binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

758 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZKSCAN1	NOX4	Q9NPH5	826
ZKSCAN1	FMR1	Q06787	491
ZKSCAN1	HIPK3	Q9H422	473
ZKSCAN1	CAMSAP1	Q5T5Y3	446
ZKSCAN1	SACK1A	Q86UY5	410
ZKSCAN1	ZNF609	O15014	404
ZKSCAN1	ITCH	Q96J02	404
ZKSCAN1	FBXW4	P57775	367
ZKSCAN1	FAM120A	Q9NZB2	365
ZKSCAN1	NUP54	Q7Z3B4	348
ZKSCAN1	SCAND1	P57086	325
ZKSCAN1	TRIM4	Q9C037	310
ZKSCAN1	CLNS1A	P54105	306
ZKSCAN1	CDYL	Q9Y232	298
ZKSCAN1	MBNL3	Q9NUK0	295
ZKSCAN1	MTO1	Q9Y2Z2	295

IntAct

93 interactions, top by confidence:

A	B	Type	Score
ZKSCAN1	ZSCAN32	psi-mi:“MI:0915”(physical association)	0.800
ZSCAN32	ZKSCAN1	psi-mi:“MI:0915”(physical association)	0.800
DCTN1	DCTN3	psi-mi:“MI:0914”(association)	0.710
CEP72	AHCYL1	psi-mi:“MI:0914”(association)	0.640
STX7	SNAP23	psi-mi:“MI:0914”(association)	0.640
ZNF397	ZNF24	psi-mi:“MI:0914”(association)	0.640
ZNF397	ZNF213	psi-mi:“MI:0914”(association)	0.640
ZKSCAN1	MAPK7	psi-mi:“MI:0915”(physical association)	0.560
ZKSCAN1	OPTN	psi-mi:“MI:0915”(physical association)	0.560
VWCE	ZNF316	psi-mi:“MI:0914”(association)	0.530
APBA3	DUSP11	psi-mi:“MI:0914”(association)	0.530
ZSCAN32	ZNF197	psi-mi:“MI:0914”(association)	0.530
ZNF397	ZNF197	psi-mi:“MI:0914”(association)	0.530
ZNF483	ZNF197	psi-mi:“MI:0914”(association)	0.530
ZKSCAN4	ZNF213	psi-mi:“MI:0914”(association)	0.530
PGBD1	ZNF213	psi-mi:“MI:0914”(association)	0.530
L3MBTL1	DNAJB6	psi-mi:“MI:0914”(association)	0.530
ZNF24	CKM	psi-mi:“MI:0914”(association)	0.530

BioGRID (101): ZSCAN32 (Two-hybrid), ZKSCAN1 (Affinity Capture-MS), ZKSCAN1 (Affinity Capture-MS), ZKSCAN1 (Affinity Capture-MS), ZKSCAN1 (Affinity Capture-MS), ZKSCAN1 (Affinity Capture-MS), ZKSCAN1 (Affinity Capture-MS), ZKSCAN1 (Affinity Capture-MS), ZKSCAN1 (Affinity Capture-MS), ZKSCAN1 (Affinity Capture-MS), ZKSCAN1 (Affinity Capture-MS), ZKSCAN1 (Affinity Capture-MS), ZKSCAN1 (Affinity Capture-MS), ZKSCAN1 (Affinity Capture-MS), ZKSCAN1 (Affinity Capture-MS)

ESM2 similar proteins: A1A5P9, A2AVR2, A6QPT6, B2KFW1, O14978, P17029, P17040, P17098, P25233, P70503, Q13342, Q14D33, Q3SYK4, Q3V3Q4, Q4KLI1, Q4R8H9, Q4V8E9, Q5PPP4, Q5R670, Q5R7U0, Q5VWK0, Q61066, Q63HK3, Q68CQ1, Q6PCZ4, Q7TS72, Q80ZG2, Q8BGS3, Q8CF60, Q8IWY8, Q8N660, Q8NDZ0, Q8TD17, Q921B4, Q923B3, Q96D09, Q96GC6, Q96JL9, Q96M43, Q99608

Diamond homologs: A1YEP8, A1YEQ3, A1YEV9, A1YFW2, A1YFW6, A1YG26, A1YG48, A1YG60, A1YGJ4, A1YGK6, A2T6E3, A2T6V8, A2T6W2, A2T712, A2T736, A2T7D2, A2T7D7, A2T7F2, A2T7F4, A2T7L7, A2T812, A6QNZ0, A6QPT6, B2KFW1, O14709, O14771, O14978, O15535, O43309, O60304, O95125, P10073, P17022, P17028, P17029, P17040, P28698, P49910, P51815, P59923

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	61
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1069 predictions. Top by Δscore:

Variant	Effect	Δscore
7:100023929:ACAG:A	donor_loss	1.0000
7:100023932:GG:G	donor_loss	1.0000
7:100023933:G:C	donor_loss	1.0000
7:100024152:AG:A	acceptor_gain	1.0000
7:100024153:GG:G	acceptor_gain	1.0000
7:100024305:GAG:G	donor_gain	1.0000
7:100024306:AGG:A	donor_loss	1.0000
7:100024307:GGTA:G	donor_loss	1.0000
7:100024308:G:C	donor_loss	1.0000
7:100030243:TTTTA:T	acceptor_loss	1.0000
7:100030244:TTTA:T	acceptor_loss	1.0000
7:100030246:TAG:T	acceptor_loss	1.0000
7:100030248:G:GA	acceptor_loss	1.0000
7:100030374:GG:G	donor_gain	1.0000
7:100030375:GG:G	donor_gain	1.0000
7:100015727:G:GC	donor_loss	0.9900
7:100015727:G:GG	donor_gain	0.9900
7:100015728:T:A	donor_loss	0.9900
7:100024149:TTCA:T	acceptor_gain	0.9900
7:100024150:TCAGG:T	acceptor_gain	0.9900
7:100024151:CAGG:C	acceptor_gain	0.9900
7:100024152:A:AG	acceptor_gain	0.9900
7:100024152:AGG:A	acceptor_gain	0.9900
7:100024153:G:GG	acceptor_gain	0.9900
7:100024153:G:T	acceptor_gain	0.9900
7:100024153:GGTC:G	acceptor_gain	0.9900
7:100024308:G:GG	donor_gain	0.9900
7:100029859:A:AG	acceptor_gain	0.9900
7:100029860:G:GG	acceptor_gain	0.9900
7:100029948:CCCAG:C	donor_loss	0.9900

AlphaMissense

3712 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:100033745:T:C	F414L	0.999
7:100033747:C:A	F414L	0.999
7:100033747:C:G	F414L	0.999
7:100033829:T:C	F442L	0.998
7:100033831:C:A	F442L	0.998
7:100033831:C:G	F442L	0.998
7:100033913:T:C	F470L	0.998
7:100033915:C:A	F470L	0.998
7:100033915:C:G	F470L	0.998
7:100033932:T:C	L476P	0.998
7:100033997:T:C	F498L	0.998
7:100033999:C:A	F498L	0.998
7:100033999:C:G	F498L	0.998
7:100033848:T:C	L448P	0.997
7:100033863:G:C	R453P	0.997
7:100034081:T:C	F526L	0.997
7:100034083:C:A	F526L	0.997
7:100034083:C:G	F526L	0.997
7:100023736:T:C	L77P	0.996
7:100033661:T:C	F386L	0.996
7:100033663:C:A	F386L	0.996
7:100033663:C:G	F386L	0.996
7:100033860:A:C	Q452P	0.995
7:100033954:C:A	H483Q	0.995
7:100033954:C:G	H483Q	0.995
7:100023817:T:C	F104S	0.994
7:100033746:T:C	F414S	0.994
7:100023756:T:A	W84R	0.993
7:100023756:T:C	W84R	0.993
7:100033764:T:C	L420P	0.993

dbSNP variants (sampled 300 via entrez): RS1000094701 (7:100035060 G>A), RS1000162849 (7:100032242 A>C), RS1000170649 (7:100017111 A>G), RS1000231357 (7:100038657 C>A,T), RS1000267102 (7:100017303 A>G,T), RS1000368817 (7:100026544 A>G), RS1000376005 (7:100020151 A>G), RS1000484670 (7:100026260 A>G), RS1000505166 (7:100015638 T>A,G), RS1000574184 (7:100045676 G>C), RS1000599694 (7:100015857 C>T), RS1000619720 (7:100032483 T>C), RS1000630702 (7:100038036 C>G,T), RS1000683141 (7:100038364 G>A), RS1000988348 (7:100027505 C>T)

Disease associations

OMIM: gene MIM:601260 | disease phenotypes:

GenCC curated gene-disease

Mondo (2): prostate cancer (MONDO:0008315), intellectual disability (MONDO:0001071)

Orphanet (2): Familial prostate cancer (Orphanet:1331), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

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

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST002882_5	Ticagrelor levels in individuals with acute coronary syndromes treated with ticagrelor	4.000000e-10
GCST004185_22	Lung function (FEV1/FVC)	2.000000e-09
GCST007094_168	Diastolic blood pressure	3.000000e-08
GCST007431_148	Lung function (FEV1/FVC)	9.000000e-15
GCST007692_60	Chronic obstructive pulmonary disease	7.000000e-10
GCST008839_208	Height	1.000000e-14
GCST010002_259	Refractive error	3.000000e-16
GCST010083_138	Hemoglobin levels	5.000000e-18
GCST010702_48	Subcortical volume (MOSTest)	6.000000e-10
GCST010703_289	Brain morphology (MOSTest)	6.000000e-15

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0007007	ticagrelor measurement
EFO:0004713	FEV/FVC ratio
EFO:0006336	diastolic blood pressure
EFO:0004509	hemoglobin measurement
EFO:0004346	neuroimaging measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, decreases methylation, increases expression	6
sodium arsenite	decreases expression, increases expression	4
bisphenol A	decreases expression, increases expression	3
Benzo(a)pyrene	decreases methylation, increases expression, increases mutagenesis	3
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression, increases expression	3
Resveratrol	affects cotreatment, decreases expression, increases expression	2
FR900359	decreases phosphorylation	1
TAK-243	increases sumoylation	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	increases expression	1
2-butenal	decreases expression	1
arsenite	affects binding, decreases reaction	1
potassium chromate(VI)	affects cotreatment, increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
epigallocatechin gallate	increases expression, affects cotreatment	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
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	increases expression, increases response to substance	1
(+)-JQ1 compound	increases expression	1
Air Pollutants	decreases expression	1
Air Pollutants, Occupational	decreases expression	1
Caffeine	decreases phosphorylation	1
Coumestrol	affects cotreatment, decreases expression	1
Estradiol	decreases expression	1
Gallic Acid	increases expression	1
Nickel	decreases expression	1
Phthalic Acids	increases methylation	1
Plant Extracts	affects cotreatment, increases expression	1
Selenium	decreases expression	1

Cellosaurus cell lines

3 cell lines: 3 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A8C9	SEES3-1V human ZKSCAN1, clone1	Embryonic stem cell	Male
CVCL_A8D0	SEES3-1V human ZKSCAN1, clone2	Embryonic stem cell	Male
CVCL_A8D1	SEES3-1V human ZKSCAN1, clone3	Embryonic stem cell	Male

Clinical trials (associated diseases)

300 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