KLLN
geneOn this page
Also known as killin
Summary
KLLN (killin, p53 regulated DNA replication inhibitor, HGNC:37212) is a protein-coding gene on chromosome 10q23, encoding Killin (B2CW77). DNA-binding protein involved in S phase checkpoint control-coupled apoptosis by mediating p53/TP53-induced apoptosis.
The protein encoded by this intronless gene is found in the nucleus, where it can inhibit DNA synthesis and promote S phase arrest coupled to apoptosis. The expression of this DNA binding protein is upregulated by transcription factor p53.
Source: NCBI Gene 100144748 — RefSeq curated summary.
At a glance
- Gene–disease (curated): Cowden disease (Supportive, GenCC) — +1 more curated relationship
- GWAS associations: 1
- Clinical variants (ClinVar): 330 total — 7 pathogenic, 2 likely-pathogenic
- Phenotypes (HPO): 61
- MANE Select transcript:
NM_001126049
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:37212 |
| Approved symbol | KLLN |
| Name | killin, p53 regulated DNA replication inhibitor |
| Location | 10q23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | killin |
| Ensembl gene | ENSG00000227268 |
| Ensembl biotype | protein_coding |
| OMIM | 612105 |
| Entrez | 100144748 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000445946
RefSeq mRNA: 1 — MANE Select: NM_001126049
NM_001126049
CCDS: CCDS44454
Canonical transcript exons
ENST00000445946 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001618472 | 87859158 | 87863533 |
Expression profiles
Bgee: expression breadth ubiquitous, 149 present calls, max score 83.21.
Top tissues by expression
253 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tibialis anterior | UBERON:0001385 | 83.21 | silver quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 78.39 | gold quality |
| pancreatic ductal cell | CL:0002079 | 78.19 | silver quality |
| ileal mucosa | UBERON:0000331 | 76.99 | silver quality |
| kidney epithelium | UBERON:0004819 | 74.26 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 73.79 | gold quality |
| deltoid | UBERON:0001476 | 70.81 | gold quality |
| upper arm skin | UBERON:0004263 | 70.70 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 70.16 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 69.93 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 69.92 | gold quality |
| sperm | CL:0000019 | 69.76 | silver quality |
| secondary oocyte | CL:0000655 | 68.09 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 66.20 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 64.44 | gold quality |
| quadriceps femoris | UBERON:0001377 | 64.27 | gold quality |
| stromal cell of endometrium | CL:0002255 | 64.19 | gold quality |
| myocardium | UBERON:0002349 | 64.15 | gold quality |
| islet of Langerhans | UBERON:0000006 | 63.53 | gold quality |
| parotid gland | UBERON:0001831 | 63.46 | gold quality |
| vastus lateralis | UBERON:0001379 | 62.13 | gold quality |
| heart right ventricle | UBERON:0002080 | 61.87 | gold quality |
| biceps brachii | UBERON:0001507 | 61.06 | gold quality |
| muscle tissue | UBERON:0002385 | 60.86 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 60.27 | gold quality |
| tibia | UBERON:0000979 | 60.14 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 59.98 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 59.93 | silver quality |
| germinal epithelium of ovary | UBERON:0001304 | 58.93 | gold quality |
| cortical plate | UBERON:0005343 | 58.75 | silver quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-97 | yes | 87.48 |
| E-ANND-3 | no | 0.65 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
98 targeting KLLN, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| 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-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-204-5P | 99.79 | 71.62 | 2439 |
| HSA-MIR-211-5P | 99.79 | 71.65 | 2440 |
| HSA-MIR-2681-5P | 99.75 | 67.64 | 1655 |
Literature-anchored findings (GeneRIF, showing 19)
- Killin is a p53-regulated nuclear inhibitor of DNA synthesis with high affinity of DNA binding. (PMID:18385383)
- results support Killin as a missing link between p53 activation and S phase checkpoint control designed to eliminate replicating precancerous cells, should they escape G(1) blockade mediated by p21. (PMID:18385383)
- Germline KILLIN methylation is common among patients with Cowden syndrome or Cowden-like syndrome and is associated with increased risks of breast and renal cancer over PTEN mutation-positive individuals (PMID:21177507)
- 19 of 20 advanced RCC showed somatic hypermethylation upstream of KILLIN (PMID:21584899)
- Cowden syndrome patients have elevated risks of papillary thyroid cancer from KLLN alterations. (PMID:21956414)
- Pathogenic mutations in KLLN are rare in breast cancer families and the c.339_340delAG variant does not represent a high-penetrance breast cancer risk allele. (PMID:22580995)
- KLLN is a transcription factor directly regulating AR, TP53, and TP73 expression, with a role in prostate carcinogenesis. (PMID:23386643)
- We demonstrate, in vitro and in murine xenograph models, that both KLLN and PTEN are AR-target genes, mediating androgen-induced growth inhibition and apoptosis in breast cancer cells. (PMID:23418309)
- Germline KLLN mutations dysregulate the cell cycle at G2. (PMID:23446638)
- Data indicate that NVP-BEZ235-induced androgen receptor (AR) suppression resulted in decreased expression of both tumor suppressor proteins PTEN and KLLN in AR+/ER+ breast cancer cells. (PMID:24356815)
- Nuclear KLLN expression associates with improved relapse-free survival for prostate carcinoma (PMID:24972837)
- Germline promoter hypermethylation of KLLN is associated with particular malignant and benign Cowden syndrome features, which is dependent on the PTEN mutation status. (PMID:25669429)
- Killin has a role in competitively inhibiting the formation of DNA replication forks during S-phase, as well as potentially negatively regulate RNA synthesis during other cell cycle phases (PMID:25945611)
- The results suggest a critical role for KLLN as a potential regulator of pericentric heterochromatin formation, genomic stability and gene expression. (PMID:26673699)
- overexpression of microRNA-224 enhanced the proliferation abilities of HO8910 and knockdown of microRNA-224 suppressed the proliferation abilities of HO8910PM by KLLN-cyclin A pathway. (PMID:27663866)
- Data suggest that low levels of PTEN and KLLN are associated with both sporadic papillary thyroid carcinoma and multi-nodular goiter (as compared to control subjects); however, PTEN and KLLN should not be considered as circulating biomarkers for differential diagnosis between malignancy and benignity in indeterminate thyroid nodules. (PTEN = phosphatase and tensin homolog; KLLN = DNA replication inhibitor killin) (PMID:28755140)
- MiR-744-3p regulates the proliferation and differentiation of keratinocytes through targeting KLLN in psoriasis (PMID:30664260)
- New evidence on tumor suppressor activity of PTEN and KLLN in papillary thyroid carcinoma. (PMID:34425332)
- EBF2 Links KMT2D-Mediated H3K4me1 to Suppress Pancreatic Cancer Progression via Upregulating KLLN. (PMID:38015024)
Cross-species orthologs
0 orthologs
Protein
Protein identifiers
Killin — B2CW77 (reviewed: B2CW77)
All UniProt accessions (1): B2CW77
UniProt curated annotations — full annotation on UniProt →
Function. DNA-binding protein involved in S phase checkpoint control-coupled apoptosis by mediating p53/TP53-induced apoptosis. Has the ability to inhibit DNA synthesis and S phase arrest coupled to apoptosis. Has affinity to both double- and single-stranded DNA.
Subcellular location. Nucleus.
Disease relevance. Cowden syndrome 4 (CWS4) [MIM:615107] A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. The gene represented in this entry is involved in disease pathogenesis. Germline KLLN methylation is common among patients with Cowden syndrome or Cowden-like syndrome and is associated with increased risks of breast and renal cancer over PTEN mutation-positive individuals.
Induction. By p53/TP53; direct transcription target of p53/TP53.
RefSeq proteins (1): NP_001119521* (*=MANE)
Domains & families (InterPro)
UniProt features (2 total): chain 1, DNA-binding region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-B2CW77-F1 | 51.20 | 0.00 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 183 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GOCC_NUCLEOLUS, chr10q23, CIITA_TARGET_GENES, GTF2E2_TARGET_GENES, HMG20B_TARGET_GENES, SALL4_TARGET_GENES, SKIL_TARGET_GENES, TAF9B_TARGET_GENES, ZNF146_TARGET_GENES, ZNF282_TARGET_GENES, ZNF524_TARGET_GENES, ZNF561_TARGET_GENES, ZNF596_TARGET_GENES
GO Biological Process (1): apoptotic process (GO:0006915)
GO Molecular Function (1): DNA binding (GO:0003677)
GO Cellular Component (3): nucleoplasm (GO:0005654), nucleolus (GO:0005730), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nuclear lumen | 2 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| nucleic acid binding | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
230 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KLLN | SEC23B | Q15437 | 507 |
| KLLN | PTEN | P60484 | 507 |
| KLLN | SLC16A12 | Q6ZSM3 | 474 |
| KLLN | SDHB | P21912 | 437 |
| KLLN | SLITRK6 | Q9H5Y7 | 404 |
| KLLN | SDHD | O14521 | 398 |
| KLLN | USF3 | Q68DE3 | 395 |
| KLLN | SLITRK1 | Q96PX8 | 390 |
| KLLN | FLCN | Q8NFG4 | 355 |
| KLLN | TP73 | O15350 | 352 |
| KLLN | TP53 | P04637 | 348 |
| KLLN | PIK3CA | P42336 | 328 |
| KLLN | CHFR | Q96EP1 | 305 |
| KLLN | LIPK | Q5VXJ0 | 303 |
| KLLN | LIPJ | Q5W064 | 298 |
IntAct
0 interactions, top by confidence:
BioGRID (4): KLLN (Positive Genetic), KLLN (Positive Genetic), KLLN (Affinity Capture-RNA), KLLN (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A0A1B0GUV1, A1L4Q6, A2RUQ5, A6NEH8, A6NH13, A8MZ25, B2CW77, B7Z368, O83993, P03294, P06926, P0C044, P0C045, P0C7V0, P0CG42, P0CG43, P0DXC1, P10200, P11300, P16819, P40205, P75410, Q03352, Q1R1V4, Q1W209, Q5T5F5, Q5TG53, Q5W150, Q6UXP9, Q6ZS52, Q6ZSK4, Q6ZSR3, Q6ZTY9, Q71F78, Q8IYB0, Q8N319, Q8N814, Q8N8V8, Q8N9X3, Q8NBB2
SIGNOR signaling
0 interactions.
Disease & clinical
Cancer significance
Clinical variants and AI predictions
ClinVar
330 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 7 |
| Likely pathogenic | 2 |
| Uncertain significance | 283 |
| Likely benign | 19 |
| Benign | 7 |
Top pathogenic / likely-pathogenic (9)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1068715 | NC_000010.10:g.(?89621800)(89693018_?)del | Pathogenic |
| 2422862 | NC_000010.10:g.(?89621800)(89685324_?)del | Pathogenic |
| 40164 | NG_033079.1:g.4675_4964|gom | Pathogenic |
| 584103 | NC_000010.10:g.(?89622928)(89712026_?)del | Pathogenic |
| 646972 | NC_000010.11:g.(?86838866)(87965482_?)del | Pathogenic |
| 830565 | NC_000010.11:g.(?87863161)(87894129_?)del | Pathogenic |
| 832889 | NC_000010.11:g.(?87552082)(88768928_?)del | Pathogenic |
| 3780926 | NM_000314.8(PTEN):c.-1111A>G | Likely pathogenic |
| 3780928 | NM_000314.8(PTEN):c.-1239A>G | Likely pathogenic |
SpliceAI
100 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:87863244:G:C | donor_gain | 1.0000 |
| 10:87863202:AC:A | donor_gain | 0.9800 |
| 10:87863203:CC:C | donor_gain | 0.9800 |
| 10:87863207:G:A | donor_gain | 0.9700 |
| 10:87863257:G:A | donor_gain | 0.9700 |
| 10:87863210:T:TA | donor_gain | 0.9400 |
| 10:87863243:AG:A | donor_gain | 0.9100 |
| 10:87863243:AGCT:A | donor_gain | 0.9000 |
| 10:87863334:C:T | donor_gain | 0.8900 |
| 10:87863333:GCAGC:G | donor_gain | 0.8800 |
| 10:87863251:AT:A | donor_gain | 0.8700 |
| 10:87863283:C:T | donor_gain | 0.8500 |
| 10:87863337:C:G | donor_gain | 0.8400 |
| 10:87863354:A:AG | donor_gain | 0.8400 |
| 10:87863355:G:GG | donor_gain | 0.8400 |
| 10:87863197:AGCCT:A | donor_loss | 0.7800 |
| 10:87863198:GCCTA:G | donor_loss | 0.7800 |
| 10:87863199:CCTA:C | donor_loss | 0.7800 |
| 10:87863200:CT:C | donor_loss | 0.7800 |
| 10:87863201:TA:T | donor_loss | 0.7800 |
| 10:87863202:A:AT | donor_loss | 0.7800 |
| 10:87863203:CCCTG:C | donor_gain | 0.7600 |
| 10:87863243:A:AC | donor_gain | 0.7600 |
| 10:87863253:C:A | donor_gain | 0.7500 |
| 10:87863396:C:G | donor_gain | 0.7500 |
| 10:87863202:A:AC | donor_gain | 0.7300 |
| 10:87863203:C:CC | donor_gain | 0.7300 |
| 10:87863204:C:G | donor_loss | 0.7300 |
| 10:87863347:C:T | donor_gain | 0.7200 |
| 10:87863351:C:G | donor_gain | 0.7100 |
AlphaMissense
1125 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:87862305:G:C | F61L | 0.976 |
| 10:87862305:G:T | F61L | 0.976 |
| 10:87862307:A:G | F61L | 0.976 |
| 10:87862260:G:C | F76L | 0.972 |
| 10:87862260:G:T | F76L | 0.972 |
| 10:87862262:A:G | F76L | 0.972 |
| 10:87862338:C:A | W50C | 0.945 |
| 10:87862338:C:G | W50C | 0.945 |
| 10:87862261:A:C | F76C | 0.900 |
| 10:87862340:A:G | W50R | 0.900 |
| 10:87862340:A:T | W50R | 0.900 |
| 10:87862264:T:A | K75I | 0.874 |
| 10:87862334:C:G | D52H | 0.872 |
| 10:87862350:G:C | F46L | 0.872 |
| 10:87862350:G:T | F46L | 0.872 |
| 10:87862352:A:G | F46L | 0.872 |
| 10:87862306:A:C | F61C | 0.860 |
| 10:87862261:A:G | F76S | 0.855 |
| 10:87862377:C:A | W37C | 0.849 |
| 10:87862377:C:G | W37C | 0.849 |
| 10:87862332:A:C | D52E | 0.842 |
| 10:87862332:A:T | D52E | 0.842 |
| 10:87862263:T:A | K75N | 0.841 |
| 10:87862263:T:G | K75N | 0.841 |
| 10:87862306:A:G | F61S | 0.839 |
| 10:87862083:C:A | K135N | 0.833 |
| 10:87862083:C:G | K135N | 0.833 |
| 10:87862335:C:A | K51N | 0.824 |
| 10:87862335:C:G | K51N | 0.824 |
| 10:87862339:C:A | W50L | 0.815 |
dbSNP variants (sampled 300 via entrez): RS1000211398 (10:87864412 C>A,G,T), RS1000303263 (10:87864169 C>G,T), RS1000597070 (10:87858718 T>C), RS1000874630 (10:87858921 G>A), RS1001536546 (10:87863872 C>G,T), RS1001546318 (10:87862050 G>A), RS1001571902 (10:87864141 C>G,T), RS1001879832 (10:87860400 C>T), RS1002029131 (10:87861723 C>A), RS1002542088 (10:87862746 A>G), RS1003575278 (10:87861989 G>A), RS1004873079 (10:87862292 G>A), RS1005468817 (10:87860767 T>A), RS1005788190 (10:87861133 G>C), RS1006341301 (10:87862687 G>A)
Disease associations
OMIM: gene MIM:612105 | disease phenotypes: MIM:158350, MIM:605309, MIM:607174, MIM:613028, MIM:615107, MIM:276950, MIM:176807, MIM:612555
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| Cowden disease | Supportive | Autosomal dominant |
| Cowden syndrome 4 | No Known Disease Relationship | Unknown |
Mondo (13): PTEN hamartoma tumor syndrome (MONDO:0017623), hereditary neoplastic syndrome (MONDO:0015356), Cowden syndrome 1 (MONDO:0008021), prostate cancer (MONDO:0008315), macrocephaly-autism syndrome (MONDO:0011537), familial meningioma (MONDO:0011789), glioma susceptibility 2 (MONDO:0013092), Cowden syndrome 4 (MONDO:0014046), VACTERL with hydrocephalus (MONDO:0010172), prostate cancer, hereditary (MONDO:0700275), breast-ovarian cancer, familial, susceptibility to, 2 (MONDO:0012933), generalized juvenile polyposis/juvenile polyposis coli (MONDO:0008276), Cowden disease (MONDO:0016063)
Orphanet (10): PTEN hamartoma tumor syndrome (Orphanet:306498), Inherited cancer-predisposing syndrome (Orphanet:140162), Familial prostate cancer (Orphanet:1331), Glial tumor (Orphanet:182067), Cowden syndrome (Orphanet:201), Macrocephaly-intellectual disability-autism syndrome (Orphanet:210548), Familial multiple meningioma (Orphanet:263662), VACTERL with hydrocephalus (Orphanet:3412), Hereditary breast and/or ovarian cancer syndrome (Orphanet:145), Generalized juvenile polyposis/juvenile polyposis coli (Orphanet:329971)
HPO phenotypes
61 total (30 of 61 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000036 | Abnormal penis morphology |
| HP:0000077 | Abnormality of the kidney |
| HP:0000130 | Abnormality of the uterus |
| HP:0000158 | Macroglossia |
| HP:0000218 | High palate |
| HP:0000221 | Furrowed tongue |
| HP:0000256 | Macrocephaly |
| HP:0000365 | Hearing impairment |
| HP:0000518 | Cataract |
| HP:0000545 | Myopia |
| HP:0000717 | Autism |
| HP:0000767 | Pectus excavatum |
| HP:0000771 | Gynecomastia |
| HP:0000820 | Abnormality of the thyroid gland |
| HP:0000853 | Goiter |
| HP:0000982 | Palmoplantar keratoderma |
| HP:0000995 | Melanocytic nevus |
| HP:0001048 | Cavernous hemangioma |
| HP:0001053 | Hypopigmented skin patches |
| HP:0001156 | Brachydactyly |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001263 | Global developmental delay |
| HP:0001317 | Abnormal cerebellum morphology |
| HP:0001482 | Subcutaneous nodule |
| HP:0001508 | Failure to thrive |
| HP:0002516 | Increased intracranial pressure |
| HP:0002650 | Scoliosis |
| HP:0002664 | Neoplasm |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004346_46 | Psoriasis | 3.000000e-08 |
MeSH disease descriptors (6)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D006223 | Hamartoma Syndrome, Multiple | C04.445.435; C04.651.435; C04.700.435; C16.320.700.435 |
| D009386 | Neoplastic Syndromes, Hereditary | C04.700; C16.320.700 |
| 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 |
| C565342 | Macrocephaly Autism Syndrome (supp.) | |
| C537443 | Meningioma, familial (supp.) | |
| C537243 | Prostate cancer, familial (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
19 total (human), top 19 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Doxorubicin | affects expression, increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| polyhexamethyleneguanidine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| nutlin 3 | increases expression | 1 |
| jinfukang | increases expression, affects cotreatment | 1 |
| NSC668394 | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Estradiol | affects expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tunicamycin | increases expression | 1 |
| Urethane | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Okadaic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
311 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03306446 | PHASE4 | UNKNOWN | Changing the coUrse of cRohn’s Disease With an Early Use of Adalimumab |
| 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 |
Related Atlas pages
- Associated diseases: Cowden syndrome 4, Cowden disease
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): breast cancer, breast carcinoma, breast-ovarian cancer, familial, susceptibility to, 2, Cowden disease, Cowden syndrome 1, Cowden syndrome 4, familial meningioma, generalized juvenile polyposis/juvenile polyposis coli, glioma susceptibility 2, macrocephaly-autism syndrome, nonpapillary renal cell carcinoma, prostate cancer, hereditary, PTEN hamartoma tumor syndrome, renal cell adenocarcinoma, renal cell carcinoma, VACTERL with hydrocephalus