ASPRV1
gene geneOn this page
Also known as TapsSASPaseFLJ25084
Summary
ASPRV1 (aspartic peptidase retroviral like 1, HGNC:26321) is a protein-coding gene on chromosome 2p13.3, encoding Retroviral-like aspartic protease 1 (Q53RT3). Protease responsible for filaggrin processing, essential for the maintenance of a proper epidermis organization.
Filaggrin is a structural protein that is crucial for in the development and maintenance of the skin barrier. This gene encodes a retroviral-like protease involved in profilaggrin-to-filaggrin processing. Expression is found primarily in the epidermis and inner root sheath of hair follicles.
Source: NCBI Gene 151516 — RefSeq curated summary.
At a glance
- Gene–disease (curated): ichthyosis, lamellar, autosomal dominant (Strong, GenCC)
- GWAS associations: 1
- Clinical variants (ClinVar): 87 total — 3 pathogenic
- Phenotypes (HPO): 23
- MANE Select transcript:
NM_152792
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26321 |
| Approved symbol | ASPRV1 |
| Name | aspartic peptidase retroviral like 1 |
| Location | 2p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Taps, SASPase, FLJ25084 |
| Ensembl gene | ENSG00000244617 |
| Ensembl biotype | protein_coding |
| OMIM | 611765 |
| Entrez | 151516 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000320256
RefSeq mRNA: 1 — MANE Select: NM_152792
NM_152792
CCDS: CCDS1897
Canonical transcript exons
ENST00000320256 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001221518 | 69960089 | 69961631 |
Expression profiles
Bgee: expression breadth ubiquitous, 183 present calls, max score 99.82.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4188 / max 359.6161, expressed in 35 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 28956 | 0.4188 | 35 |
Top tissues by expression
233 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| upper arm skin | UBERON:0004263 | 99.82 | gold quality |
| upper leg skin | UBERON:0004262 | 99.56 | gold quality |
| nipple | UBERON:0002030 | 98.64 | gold quality |
| penis | UBERON:0000989 | 97.99 | gold quality |
| skin of leg | UBERON:0001511 | 97.99 | gold quality |
| skin of hip | UBERON:0001554 | 97.99 | gold quality |
| mammalian vulva | UBERON:0000997 | 97.83 | gold quality |
| zone of skin | UBERON:0000014 | 97.63 | gold quality |
| skin of abdomen | UBERON:0001416 | 96.96 | gold quality |
| pancreatic ductal cell | CL:0002079 | 88.09 | silver quality |
| endothelial cell | CL:0000115 | 86.87 | gold quality |
| blood | UBERON:0000178 | 81.48 | gold quality |
| tibialis anterior | UBERON:0001385 | 80.26 | silver quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 79.63 | gold quality |
| amniotic fluid | UBERON:0000173 | 79.58 | gold quality |
| ileal mucosa | UBERON:0000331 | 75.76 | silver quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 75.64 | gold quality |
| spinal cord | UBERON:0002240 | 74.54 | gold quality |
| hypothalamus | UBERON:0001898 | 72.37 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 72.20 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 72.08 | gold quality |
| cerebellar cortex | UBERON:0002129 | 72.04 | gold quality |
| deltoid | UBERON:0001476 | 72.02 | silver quality |
| putamen | UBERON:0001874 | 72.00 | gold quality |
| cerebellum | UBERON:0002037 | 71.68 | gold quality |
| left ovary | UBERON:0002119 | 71.50 | gold quality |
| substantia nigra | UBERON:0002038 | 71.23 | gold quality |
| tibia | UBERON:0000979 | 71.04 | gold quality |
| cortical plate | UBERON:0005343 | 70.89 | gold quality |
| right frontal lobe | UBERON:0002810 | 70.87 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.85 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
37 targeting ASPRV1, 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-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| HSA-LET-7G-3P | 99.85 | 70.43 | 1929 |
| HSA-MIR-4739 | 99.84 | 65.25 | 1832 |
| HSA-MIR-1321 | 99.84 | 65.30 | 1811 |
| HSA-MIR-4756-5P | 99.84 | 64.98 | 1809 |
| HSA-MIR-6512-3P | 99.65 | 66.07 | 1468 |
| HSA-MIR-6720-5P | 99.65 | 66.22 | 1459 |
| HSA-MIR-1260A | 99.61 | 66.67 | 1098 |
| HSA-MIR-1260B | 99.61 | 66.67 | 1098 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-3612 | 99.45 | 66.02 | 1333 |
| HSA-MIR-650 | 99.45 | 65.77 | 1309 |
| HSA-MIR-330-3P | 99.41 | 69.95 | 2521 |
| HSA-MIR-183-3P | 99.41 | 69.41 | 1598 |
| HSA-MIR-4644 | 99.35 | 69.12 | 2514 |
| HSA-MIR-6731-5P | 99.28 | 67.42 | 2375 |
| HSA-MIR-8085 | 99.28 | 67.56 | 2362 |
| HSA-MIR-5582-5P | 99.27 | 71.42 | 1879 |
| HSA-MIR-4270 | 99.02 | 66.26 | 1987 |
| HSA-MIR-4751 | 98.80 | 64.95 | 525 |
| HSA-MIR-655-5P | 98.74 | 65.93 | 888 |
| HSA-MIR-1301-3P | 98.64 | 68.27 | 1071 |
| HSA-MIR-5047 | 98.64 | 68.62 | 1035 |
| HSA-MIR-4266 | 98.53 | 67.29 | 1035 |
| HSA-MIR-1271-3P | 97.56 | 64.85 | 865 |
| HSA-MIR-550A-3-5P | 97.56 | 65.35 | 823 |
| HSA-MIR-550A-5P | 97.56 | 65.35 | 823 |
Literature-anchored findings (GeneRIF, showing 7)
- Identification and characterization of a new member of the aspartic proteases family, a unique epidermal retroviral-like protease, Skin ASpartic Protease. (PMID:16098038)
- Taps expression is negatively associated with dedifferentiation and malignant progression in squamous cell carcinomas of the skin. (PMID:16565508)
- SASPase activity is indispensable for processing profilaggrin and maintaining the texture and hydration of the stratum corneum. (PMID:21542132)
- results failed to find an association between ASPRV1 gene mutations and atopic eczema or clinically dry skin in the European populations studied (PMID:22318384)
- Filaggrin and filaggrin 2 processing are linked together through skin aspartic acid protease activation. (PMID:32437351)
- Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis. (PMID:32516568)
- Biochemical Characterization of Human Retroviral-Like Aspartic Protease 1 (ASPRV1). (PMID:32640672)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Asprv1 | ENSMUSG00000033508 |
| rattus_norvegicus | Asprv1 | ENSRNOG00000017710 |
Protein
Protein identifiers
Retroviral-like aspartic protease 1 — Q53RT3 (reviewed: Q53RT3)
Alternative names: Skin-specific retroviral-like aspartic protease, TPA-inducible aspartic proteinase-like protein
All UniProt accessions (1): Q53RT3
UniProt curated annotations — full annotation on UniProt →
Function. Protease responsible for filaggrin processing, essential for the maintenance of a proper epidermis organization.
Subunit / interactions. Homodimer.
Subcellular location. Membrane.
Tissue specificity. Expressed primarily in the granular layer of the epidermis and inner root sheath of hair follicles. In psoriatic skin, expressed throughout the stratum corneum. In ulcerated skin, expressed in the stratum granulosum of intact epidermis but almost absent from ulcerated regions. Expressed in differentiated areas of squamous cell carcinomas but not in undifferentiated tumors.
Post-translational modifications. Undergoes autocleavage which is necessary for activation of the protein.
Disease relevance. Ichthyosis, lamellar, autosomal dominant (ADLI) [MIM:146750] An autosomal dominant form of ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling. ADLI is characterized by onset at birth or within the first months of life, skin scaling on the entire body with relative sparing of face, anterior chest, and abdomen, and palmoplantar keratoderma. Patients may manifest mild erythema and moderate pruritus. The disease is caused by variants affecting the gene represented in this entry.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q53RT3-1 | 1 | yes |
| Q53RT3-2 | 2 |
RefSeq proteins (1): NP_690005* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001969 | Aspartic_peptidase_AS | Active_site |
| IPR001995 | Peptidase_A2_cat | Domain |
| IPR021109 | Peptidase_aspartic_dom_sf | Homologous_superfamily |
| IPR033539 | Asprv1 | Family |
Pfam: PF13975
UniProt features (16 total): sequence variant 4, propeptide 2, topological domain 2, chain 1, mutagenesis site 1, sequence conflict 1, transmembrane region 1, domain 1, active site 1, glycosylation site 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q53RT3-F1 | 70.77 | 0.44 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 212
Glycosylation sites (1): 276
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 212 | abolishes production of active form of enzyme. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 115 (showing top):
GOBP_PROTEIN_MATURATION, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, GOBP_SKIN_DEVELOPMENT, RICKMAN_HEAD_AND_NECK_CANCER_C, GOBP_PROTEOLYSIS, GOMF_PEPTIDASE_ACTIVITY, GOMF_ASPARTIC_TYPE_PEPTIDASE_ACTIVITY, chr2p13, MIKKELSEN_ES_ICP_WITH_H3K4ME3, CHYLA_CBFA2T3_TARGETS_DN, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_A, GOBP_PROTEIN_PROCESSING, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, GSE13522_CTRL_VS_T_CRUZI_BRAZIL_STRAIN_INF_SKIN_DN, GSE11924_TH2_VS_TH17_CD4_TCELL_UP
GO Biological Process (3): protein processing (GO:0016485), skin development (GO:0043588), proteolysis (GO:0006508)
GO Molecular Function (3): aspartic-type endopeptidase activity (GO:0004190), peptidase activity (GO:0008233), hydrolase activity (GO:0016787)
GO Cellular Component (1): membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| proteolysis | 1 |
| protein maturation | 1 |
| animal organ development | 1 |
| protein metabolic process | 1 |
| endopeptidase activity | 1 |
| aspartic-type peptidase activity | 1 |
| hydrolase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| catalytic activity | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
400 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ASPRV1 | BLMH | Q13867 | 521 |
| ASPRV1 | CASP14 | P31944 | 518 |
| ASPRV1 | PNPLA1 | Q8N8W4 | 480 |
| ASPRV1 | MRC1 | P22897 | 477 |
| ASPRV1 | NIPAL4 | Q0D2K0 | 474 |
| ASPRV1 | FLG2 | Q5D862 | 401 |
| ASPRV1 | TGM1 | P22735 | 387 |
| ASPRV1 | NUBP2 | Q9Y5Y2 | 377 |
| ASPRV1 | PRSS8 | Q16651 | 359 |
| ASPRV1 | KRT27 | Q7Z3Y8 | 354 |
| ASPRV1 | CERS3 | Q8IU89 | 353 |
| ASPRV1 | H8Y6P7 | H8Y6P7 | 348 |
| ASPRV1 | ABCA12 | Q86UK0 | 342 |
| ASPRV1 | CYSRT1 | A8MQ03 | 324 |
| ASPRV1 | LIPN | Q5VXI9 | 322 |
IntAct
23 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MCL1 | PRKAB2 | psi-mi:“MI:0914”(association) | 0.640 |
| MAS1 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| RAB9B | CHM | psi-mi:“MI:0914”(association) | 0.530 |
| ASPRV1 | WDR45B | psi-mi:“MI:0914”(association) | 0.530 |
| ELMOD3 | ASPRV1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GNAT3 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| ASPRV1 | SLC25A6 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CDKN2A | ASPRV1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CUL2 | ANXA2P2 | psi-mi:“MI:0914”(association) | 0.350 |
| FCF1 | SULT2B1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLX4 | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
| TIFAB | DDX3X | psi-mi:“MI:0914”(association) | 0.350 |
| ST6GALNAC6 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP2R2B | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| CCR1 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| PIGT | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| FNDC5 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| ZC3HC1 | SULT2B1 | psi-mi:“MI:0914”(association) | 0.350 |
| SMPD2 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| MYB | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (35): ASPRV1 (Affinity Capture-MS), ASPRV1 (Affinity Capture-MS), ASPRV1 (Affinity Capture-MS), ASPRV1 (Affinity Capture-MS), ASPRV1 (Affinity Capture-MS), ASPRV1 (Affinity Capture-MS), ASPRV1 (Affinity Capture-MS), WDR45B (Affinity Capture-MS), GNB1L (Affinity Capture-MS), ASPRV1 (Affinity Capture-MS), ASPRV1 (Affinity Capture-MS), ASPRV1 (Affinity Capture-MS), ASPRV1 (Affinity Capture-MS), ASPRV1 (Affinity Capture-MS), ASPRV1 (Two-hybrid)
ESM2 similar proteins: A4FUB7, A6NKG5, O60290, O89290, O91080, P03975, P04023, P04584, P05896, P05897, P0C691, P0CG32, P11365, P12451, P12502, P15833, P17192, P17757, P18096, P19505, P20876, P24107, P24740, P30028, P35125, Q09PK2, Q1A267, Q4R6I1, Q52QI2, Q53RT3, Q5DTT4, Q5HYW3, Q5HZA3, Q66403, Q66H30, Q6PEW1, Q74120, Q76634, Q77373, Q7M732
Diamond homologs: Q09PK2, Q53RT3
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
87 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 3 |
| Likely pathogenic | 0 |
| Uncertain significance | 65 |
| Likely benign | 7 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (3)
| Variant ID | HGVS | Classification |
|---|---|---|
| 977277 | NM_152792.4(ASPRV1):c.343A>G (p.Lys115Glu) | Pathogenic |
| 977278 | NM_152792.4(ASPRV1):c.688C>A (p.Pro230Thr) | Pathogenic |
| 977279 | NM_152792.4(ASPRV1):c.680G>C (p.Arg227Pro) | Pathogenic |
SpliceAI
121 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:69961477:A:T | acceptor_gain | 0.9700 |
| 2:69961471:C:T | acceptor_gain | 0.9600 |
| 2:69961476:C:CT | acceptor_gain | 0.9500 |
| 2:69960655:T:TA | donor_gain | 0.9400 |
| 2:69961471:C:CT | acceptor_gain | 0.9100 |
| 2:69961473:C:CT | acceptor_gain | 0.9000 |
| 2:69960670:T:TA | donor_gain | 0.8100 |
| 2:69960667:AGCT:A | donor_gain | 0.7900 |
| 2:69961476:C:T | acceptor_gain | 0.7500 |
| 2:69960659:A:AC | donor_gain | 0.7400 |
| 2:69960700:T:TA | donor_gain | 0.7200 |
| 2:69961532:C:G | acceptor_gain | 0.7000 |
| 2:69960618:TCCC:T | donor_gain | 0.6800 |
| 2:69961459:TCA:T | acceptor_gain | 0.6500 |
| 2:69960668:G:C | donor_gain | 0.6400 |
| 2:69960619:C:A | donor_gain | 0.6300 |
| 2:69961564:TTGG:T | acceptor_gain | 0.5800 |
| 2:69960624:CAATA:C | donor_gain | 0.5600 |
| 2:69960768:C:A | donor_gain | 0.5600 |
| 2:69960620:C:T | donor_gain | 0.5400 |
| 2:69960660:G:C | donor_gain | 0.5300 |
| 2:69961604:C:CC | acceptor_gain | 0.5200 |
| 2:69961533:T:TG | acceptor_gain | 0.4900 |
| 2:69960509:CCC:C | acceptor_gain | 0.4500 |
| 2:69960510:CCC:C | acceptor_gain | 0.4500 |
| 2:69961603:A:AC | acceptor_gain | 0.4400 |
| 2:69960617:TTCC:T | donor_gain | 0.4300 |
| 2:69961286:G:C | donor_gain | 0.4300 |
| 2:69961460:C:A | acceptor_gain | 0.4300 |
| 2:69960727:T:C | donor_gain | 0.4100 |
AlphaMissense
2241 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:69960874:A:G | F272S | 0.999 |
| 2:69960760:A:G | F310S | 0.998 |
| 2:69960780:G:C | C303W | 0.998 |
| 2:69960782:A:G | C303R | 0.998 |
| 2:69960873:G:C | F272L | 0.998 |
| 2:69960873:G:T | F272L | 0.998 |
| 2:69960875:A:G | F272L | 0.998 |
| 2:69960920:A:G | W257R | 0.998 |
| 2:69960920:A:T | W257R | 0.998 |
| 2:69961014:C:A | W225C | 0.998 |
| 2:69961014:C:G | W225C | 0.998 |
| 2:69961016:A:G | W225R | 0.998 |
| 2:69961016:A:T | W225R | 0.998 |
| 2:69961030:A:T | V220D | 0.998 |
| 2:69961053:G:C | D212E | 0.998 |
| 2:69961053:G:T | D212E | 0.998 |
| 2:69961054:T:A | D212V | 0.998 |
| 2:69961054:T:C | D212G | 0.998 |
| 2:69961054:T:G | D212A | 0.998 |
| 2:69961063:A:G | F209S | 0.998 |
| 2:69960823:A:G | L289P | 0.997 |
| 2:69960823:A:T | L289H | 0.997 |
| 2:69960925:C:A | G255V | 0.997 |
| 2:69961015:C:G | W225S | 0.997 |
| 2:69961096:A:G | L198P | 0.997 |
| 2:69960754:A:G | L312P | 0.996 |
| 2:69960808:G:T | A294D | 0.996 |
| 2:69960838:A:T | I284N | 0.996 |
| 2:69961036:G:A | S218F | 0.996 |
| 2:69961055:C:G | D212H | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000001957 (2:69947341 A>C), RS1000054458 (2:69985078 G>A,C), RS1000084494 (2:70022709 A>G,T), RS1000105085 (2:69953126 G>A), RS1000113710 (2:69991513 C>T), RS1000138046 (2:70059189 C>A), RS1000145647 (2:70008979 C>T), RS1000167059 (2:70006551 G>A,C), RS1000169427 (2:70043979 T>C), RS1000184399 (2:69976501 A>G), RS1000196811 (2:69961885 A>G), RS1000225671 (2:70086135 C>A), RS1000235869 (2:70080419 G>A), RS1000255782 (2:70051238 AT>A), RS1000280949 (2:70035208 G>A)
Disease associations
OMIM: gene MIM:611765 | disease phenotypes: MIM:146750
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| ichthyosis, lamellar, autosomal dominant | Strong | Autosomal dominant |
Mondo (2): prostate cancer (MONDO:0008315), ichthyosis, lamellar, autosomal dominant (MONDO:0007812)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
23 total (23 of 23 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000083 | Renal insufficiency |
| HP:0000164 | Abnormality of the dentition |
| HP:0000232 | Everted lower lip vermilion |
| HP:0000389 | Chronic otitis media |
| HP:0000656 | Ectropion |
| HP:0000958 | Dry skin |
| HP:0000962 | Hyperkeratosis |
| HP:0000989 | Pruritus |
| HP:0001019 | Erythroderma |
| HP:0001597 | Abnormal nail morphology |
| HP:0001944 | Dehydration |
| HP:0002205 | Recurrent respiratory infections |
| HP:0004322 | Short stature |
| HP:0007479 | Congenital nonbullous ichthyosiform erythroderma |
| HP:0008064 | Ichthyosis |
| HP:0008070 | Sparse hair |
| HP:0011039 | Abnormal helix morphology |
| HP:0100543 | Cognitive impairment |
| HP:0100679 | Lack of skin elasticity |
| HP:0100758 | Gangrene |
| HP:0100806 | Sepsis |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002481_1 | Acne (severe) | 5.000000e-06 |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| 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 |
| C537263 | Lamellar ichthyosis, autosomal dominant form (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, decreases methylation, affects cotreatment, increases expression | 3 |
| Benzo(a)pyrene | decreases expression, increases methylation, increases mutagenesis | 3 |
| Diethylhexyl Phthalate | decreases expression, decreases methylation, increases abundance | 2 |
| Cadmium Chloride | increases abundance, increases expression, decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| lasiocarpine | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenate | decreases expression, increases abundance | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| mono-(2-ethylhexyl)phthalate | decreases methylation, increases abundance | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| hydroquinone | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| abrine | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic | increases abundance, decreases expression | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Dexamethasone | increases expression, affects cotreatment | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Lipopolysaccharides | affects response to substance, increases expression | 1 |
| Quercetin | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Aflatoxin B1 | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
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 |
Related Atlas pages
- Associated diseases: ichthyosis, lamellar, autosomal dominant
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): ichthyosis, lamellar, autosomal dominant