VNN2
gene geneOn this page
Also known as FOAP-4GPI-80
Summary
VNN2 (vanin 2, HGNC:12706) is a protein-coding gene on chromosome 6q23.2, encoding Pantetheine hydrolase VNN2 (O95498). Amidohydrolase that hydrolyzes specifically one of the carboamide linkages in D-pantetheine thus recycling pantothenic acid (vitamin B5) and releasing cysteamine.
This gene product is a member of the Vanin family of proteins that share extensive sequence similarity with each other, and also with biotinidase. The family includes secreted and membrane-associated proteins, a few of which have been reported to participate in hematopoietic cell trafficking. No biotinidase activity has been demonstrated for any of the vanin proteins, however, they possess pantetheinase activity, which may play a role in oxidative-stress response. The encoded protein is a GPI-anchored cell surface molecule that plays a role in transendothelial migration of neutrophils. This gene lies in close proximity to, and in same transcriptional orientation as two other vanin genes on chromosome 6q23-q24. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.
Source: NCBI Gene 8875 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 94 total
- MANE Select transcript:
NM_004665
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12706 |
| Approved symbol | VNN2 |
| Name | vanin 2 |
| Location | 6q23.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FOAP-4, GPI-80 |
| Ensembl gene | ENSG00000112303 |
| Ensembl biotype | protein_coding |
| OMIM | 603571 |
| Entrez | 8875 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 8 nonsense_mediated_decay, 6 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000326499, ENST00000392389, ENST00000418593, ENST00000422400, ENST00000524919, ENST00000525270, ENST00000525289, ENST00000525674, ENST00000526157, ENST00000526192, ENST00000528801, ENST00000530536, ENST00000531279, ENST00000532012, ENST00000532053, ENST00000533835
RefSeq mRNA: 3 — MANE Select: NM_004665
NM_001242350, NM_004665, NM_078488
CCDS: CCDS5161, CCDS5162, CCDS56451
Canonical transcript exons
ENST00000326499 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000764068 | 132752461 | 132752749 |
| ENSE00003518159 | 132749695 | 132749865 |
| ENSE00003561174 | 132757416 | 132757546 |
| ENSE00003599181 | 132743870 | 132744491 |
| ENSE00003617186 | 132757671 | 132757904 |
| ENSE00003628887 | 132751145 | 132751518 |
| ENSE00003643444 | 132755843 | 132756035 |
Expression profiles
Bgee: expression breadth ubiquitous, 182 present calls, max score 99.17.
FANTOM5 (CAGE): breadth broad, TPM avg 14.1567 / max 5947.1623, expressed in 364 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 75621 | 12.9473 | 256 |
| 75623 | 0.9071 | 202 |
| 75622 | 0.3022 | 123 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| blood | UBERON:0000178 | 99.17 | gold quality |
| monocyte | CL:0000576 | 98.11 | gold quality |
| leukocyte | CL:0000738 | 98.01 | gold quality |
| mononuclear cell | CL:0000842 | 97.97 | gold quality |
| granulocyte | CL:0000094 | 97.46 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 96.75 | gold quality |
| periodontal ligament | UBERON:0008266 | 96.73 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 94.75 | gold quality |
| right lung | UBERON:0002167 | 94.00 | gold quality |
| spleen | UBERON:0002106 | 93.98 | gold quality |
| bone marrow | UBERON:0002371 | 93.93 | gold quality |
| gall bladder | UBERON:0002110 | 89.70 | gold quality |
| bone marrow cell | CL:0002092 | 89.54 | gold quality |
| vermiform appendix | UBERON:0001154 | 88.40 | gold quality |
| lymph node | UBERON:0000029 | 87.51 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 85.36 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 84.82 | silver quality |
| caecum | UBERON:0001153 | 84.05 | gold quality |
| upper lobe of lung | UBERON:0008948 | 83.80 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 82.10 | silver quality |
| nasal cavity epithelium | UBERON:0005384 | 81.68 | silver quality |
| islet of Langerhans | UBERON:0000006 | 80.37 | gold quality |
| adrenal tissue | UBERON:0018303 | 80.02 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 79.95 | gold quality |
| bronchus | UBERON:0002185 | 79.24 | gold quality |
| bronchial epithelial cell | CL:0002328 | 78.68 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 78.43 | silver quality |
| tonsil | UBERON:0002372 | 77.34 | gold quality |
| lung | UBERON:0002048 | 77.24 | gold quality |
| omental fat pad | UBERON:0010414 | 76.77 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9801 | yes | 4651.47 |
| E-MTAB-9221 | yes | 20.46 |
| E-ANND-3 | yes | 7.47 |
| E-HCAD-30 | no | 49.87 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
23 targeting VNN2, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-944 | 99.82 | 70.85 | 3042 |
| HSA-MIR-2116-3P | 99.74 | 64.32 | 889 |
| HSA-MIR-298 | 99.63 | 67.56 | 1916 |
| HSA-MIR-129-1-3P | 98.86 | 68.41 | 779 |
| HSA-MIR-129-2-3P | 98.86 | 68.41 | 779 |
| HSA-MIR-513B-3P | 98.76 | 68.12 | 1577 |
| HSA-MIR-3135B | 98.61 | 65.33 | 1470 |
| HSA-MIR-4662A-5P | 98.48 | 67.18 | 1007 |
| HSA-MIR-4772-3P | 98.04 | 65.60 | 1203 |
| HSA-MIR-1322 | 97.98 | 68.96 | 625 |
| HSA-MIR-3157-5P | 97.41 | 67.61 | 998 |
| HSA-MIR-3663-5P | 97.01 | 64.84 | 713 |
| HSA-MIR-6886-3P | 96.96 | 66.36 | 844 |
| HSA-MIR-3184-3P | 96.96 | 66.91 | 845 |
| HSA-MIR-4750-3P | 96.65 | 64.38 | 512 |
| HSA-MIR-1291 | 96.28 | 65.89 | 1224 |
| HSA-MIR-6775-3P | 95.76 | 65.91 | 982 |
| HSA-MIR-3651 | 95.62 | 64.67 | 287 |
| HSA-MIR-4765 | 93.11 | 66.17 | 737 |
Literature-anchored findings (GeneRIF, showing 11)
- DMSO induces neutrophil differentiation and provides suitable conditions for GPI-80 expression; this culture system is a model for the regulation of GPI-80 expression during myeloid differentiation. (PMID:12749849)
- GPI-80 positive monocytes belong to a monocyte subpopulation that is superior in phagocytosis and reactive oxygen production, but inferior in antigen presentation (PMID:12777063)
- elevated GPI-80 expression is associated with development and progression of thymoma (PMID:12967480)
- some of the GPI-80 on pseudopodia of migrating neutrophils during the late phase was associated with urokinase-type plasminogen activator receptor (uPAR), a regulator of beta2 integrin-dependent adherence and migration (PMID:14748512)
- analysis of structural divergence of GPI-80 in activated human neutrophils (PMID:17543284)
- GPI-80 defines a subpopulation of human fetal liver hematopoietic stem/progenitor cells (HSPCs) with self-renewal ability. (PMID:25465114)
- the GPI-80 CV in the CD16(hi) population was correlated inversely with the proliferative ability of T cells and the GPI-80 MFI of the CD33(hi) population was correlated with reactive oxygen species production. These results led us to propose that the pattern of GPI-80 expression in these populations is a simple and useful marker for unusual differentiation, which is related to MDSC functions. (PMID:27569996)
- Low VNN2 expression is associated with invasion of osteosarcoma. (PMID:30066949)
- the expression of GPI-80 on myeloid cells, a useful index for the heterogeneity of Myeloid-derived suppressor cells, serves as a potential prognostic biomarker for Metastatic Renal Cell Carcinoma. (PMID:31776298)
- The hematopoietic stem cell marker VNN2 is associated with chemoresistance in pediatric B-cell precursor ALL. (PMID:32853382)
- GPI-80 Augments NF-kappaB Activation in Tumor Cells. (PMID:34769456)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| drosophila_melanogaster | Btnd | FBGN0029848 |
| drosophila_melanogaster | vanin-like | FBGN0040069 |
| drosophila_melanogaster | CG32750 | FBGN0052750 |
| drosophila_melanogaster | CG32751 | FBGN0052751 |
Paralogs (2): VNN1 (ENSG00000112299), BTD (ENSG00000169814)
Protein
Protein identifiers
Pantetheine hydrolase VNN2 — O95498 (reviewed: O95498)
Alternative names: Glycosylphosphatidyl inositol-anchored protein GPI-80, Protein FOAP-4, Vascular non-inflammatory molecule 2
All UniProt accessions (10): B4DQB2, E9PK31, E9PL76, E9PLK5, E9PQ75, E9PRD9, O95498, J3KQ55, J3KQQ7, J3QT03
UniProt curated annotations — full annotation on UniProt →
Function. Amidohydrolase that hydrolyzes specifically one of the carboamide linkages in D-pantetheine thus recycling pantothenic acid (vitamin B5) and releasing cysteamine. Involved in the thymus homing of bone marrow cells. May regulate beta-2 integrin-mediated cell adhesion, migration and motility of neutrophil.
Subcellular location. Cell membrane.
Tissue specificity. Widely expressed with higher expression in spleen and blood.
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Similarity. Belongs to the carbon-nitrogen hydrolase superfamily. BTD/VNN family.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O95498-1 | 1 | yes |
| O95498-2 | 2, GPI-80 variant protein 3 | |
| O95498-3 | 3, GPI-80 variant protein 2 | |
| O95498-4 | 4, GPI-80 variant protein 1 | |
| O95498-5 | 5, GPI-80 variant protein 4 | |
| O95498-6 | 6 |
RefSeq proteins (3): NP_001229279, NP_004656, NP_511043 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003010 | C-N_Hydrolase | Domain |
| IPR012101 | Biotinidase-like_euk | Family |
| IPR036526 | C-N_Hydrolase_sf | Homologous_superfamily |
| IPR040154 | Biotinidase/VNN | Family |
| IPR043957 | Vanin_C | Domain |
Pfam: PF00795, PF19018
Enzyme classification (BRENDA):
- EC 3.5.1.92 — pantetheine hydrolase (BRENDA: 6 organisms, 31 substrates, 43 inhibitors, 6 Km, 0 kcat entries)
Substrate kinetics (BRENDA)
4 substrates with measured Km, best-characterized 4. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| PANTOTHENATE-7-AMIDO-4-METHYLCOUMARIN | 13–28 | 2 |
| (R)-PANTETHEINE | 0.02 | 1 |
| PANTETHEINE | 5 | 1 |
| S-CYSTEAMINE-3-PYRUVATE | — | 1 |
Catalyzed reactions (Rhea), 1 shown:
- (R)-pantetheine + H2O = cysteamine + (R)-pantothenate (RHEA:13445)
UniProt features (29 total): splice variant 8, glycosylation site 6, sequence variant 6, active site 3, signal peptide 1, chain 1, propeptide 1, sequence conflict 1, domain 1, lipid moiety-binding region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95498-F1 | 92.06 | 0.83 |
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 (3): 80 (proton acceptor); 179 (proton donor); 211 (nucleophile)
Post-translational modifications (1): 493
Glycosylation sites (6): 347, 357, 411, 468, 39, 273
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-163125 | Post-translational modification: synthesis of GPI-anchored proteins |
| R-HSA-199220 | Vitamin B5 (pantothenate) metabolism |
MSigDB gene sets: 168 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, DAVIES_MULTIPLE_MYELOMA_VS_MGUS_DN, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, HUTTMANN_B_CLL_POOR_SURVIVAL_DN, RHEIN_ALL_GLUCOCORTICOID_THERAPY_UP, GOBP_AMIDE_METABOLIC_PROCESS, MODULE_99, SCHLOSSER_SERUM_RESPONSE_DN, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, AACTTT_UNKNOWN, GOBP_MODIFIED_AMINO_ACID_METABOLIC_PROCESS, GOCC_SIDE_OF_MEMBRANE, SMID_BREAST_CANCER_LUMINAL_B_DN, REACTOME_METABOLISM_OF_VITAMINS_AND_COFACTORS, chr6q23
GO Biological Process (1): pantothenate metabolic process (GO:0015939)
GO Molecular Function (4): pantetheine hydrolase activity (GO:0017159), protein binding (GO:0005515), hydrolase activity (GO:0016787), hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides (GO:0016811)
GO Cellular Component (4): extracellular region (GO:0005576), plasma membrane (GO:0005886), side of membrane (GO:0098552), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
| Metabolism of water-soluble vitamins and cofactors | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| membrane | 2 |
| modified amino acid metabolic process | 1 |
| monocarboxylic acid metabolic process | 1 |
| hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides | 1 |
| binding | 1 |
| catalytic activity | 1 |
| hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds | 1 |
| cell periphery | 1 |
| leaflet of membrane bilayer | 1 |
Protein interactions and networks
STRING
1750 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| VNN2 | SERPINE2 | P07093 | 619 |
| VNN2 | AHSA1 | O95433 | 492 |
| VNN2 | SMG5 | Q9UPR3 | 479 |
| VNN2 | SRY | Q05066 | 435 |
| VNN2 | SULT1C2 | O00338 | 398 |
| VNN2 | RGS2 | P41220 | 390 |
| VNN2 | GLRX | P35754 | 381 |
| VNN2 | CYP4B1 | P13584 | 380 |
| VNN2 | SRXN1 | Q9BYN0 | 375 |
| VNN2 | CHRNA4 | P43681 | 371 |
| VNN2 | RECQL4 | O94761 | 366 |
| VNN2 | RETN | Q9HD89 | 360 |
| VNN2 | ENO1 | P06733 | 353 |
| VNN2 | H2AX | P16104 | 353 |
| VNN2 | MMP12 | P39900 | 353 |
| VNN2 | MCL1 | Q07820 | 353 |
| VNN2 | CAPN10 | Q9HC96 | 353 |
IntAct
18 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PRKCA | VNN2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VNN2 | YWHAG | psi-mi:“MI:0915”(physical association) | 0.560 |
| VNN2 | SETDB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KAT5 | VNN2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LMO3 | VNN2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VNN2 | ATP2A1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (79): ACADVL (Affinity Capture-MS), FKBP14 (Affinity Capture-MS), COX18 (Affinity Capture-MS), FZD3 (Affinity Capture-MS), S1PR5 (Affinity Capture-MS), CLDND1 (Affinity Capture-MS), KLK7 (Affinity Capture-MS), ATP2A1 (Affinity Capture-MS), FZD6 (Affinity Capture-MS), FZD7 (Affinity Capture-MS), CTSV (Affinity Capture-MS), PIGU (Affinity Capture-MS), DPY19L4 (Affinity Capture-MS), ECEL1 (Affinity Capture-MS), SLC30A9 (Affinity Capture-MS)
ESM2 similar proteins: A5PJN5, A6QQ07, B2RXS4, O08590, O15031, O35632, O95497, O95498, P09172, P14616, P15101, P19801, P26011, P36633, P43251, P83548, Q3SZL5, Q3V5L5, Q4R7M2, Q58CQ9, Q5FVF9, Q5R8R3, Q5XI31, Q64237, Q64716, Q6PD26, Q765H6, Q76HN1, Q8AV84, Q8BG22, Q8CIF4, Q8IRR1, Q8JZQ5, Q8NFI3, Q8SQG7, Q91ZJ9, Q9BDJ5, Q9DA79, Q9DBX3, Q9H3S1
Diamond homologs: A6QQ07, C6KYS2, O95497, O95498, P43251, Q58CQ9, Q5FVF9, Q8AV84, Q8CIF4, Q9BDJ5, Q9QZ25, Q9TSX8, Q9Z0K8, P83548, Q8IRR1, Q9NFP1, Q9UYV8, P49954
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
94 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 74 |
| Likely benign | 5 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
882 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:132749689:TCTTA:T | donor_loss | 1.0000 |
| 6:132749690:CTTA:C | donor_loss | 1.0000 |
| 6:132749691:TTA:T | donor_loss | 1.0000 |
| 6:132749692:TA:T | donor_loss | 1.0000 |
| 6:132749693:A:AC | donor_gain | 1.0000 |
| 6:132749694:C:CA | donor_loss | 1.0000 |
| 6:132749694:C:CC | donor_gain | 1.0000 |
| 6:132749694:CCT:C | donor_gain | 1.0000 |
| 6:132749861:CAGAC:C | acceptor_gain | 1.0000 |
| 6:132749863:GACC:G | acceptor_loss | 1.0000 |
| 6:132749864:ACCT:A | acceptor_loss | 1.0000 |
| 6:132749865:CCTA:C | acceptor_gain | 1.0000 |
| 6:132749866:C:CC | acceptor_gain | 1.0000 |
| 6:132749867:T:G | acceptor_loss | 1.0000 |
| 6:132749868:A:AC | acceptor_gain | 1.0000 |
| 6:132749868:A:C | acceptor_gain | 1.0000 |
| 6:132755839:TTACC:T | donor_loss | 1.0000 |
| 6:132755840:TACC:T | donor_loss | 1.0000 |
| 6:132755841:A:T | donor_loss | 1.0000 |
| 6:132756036:C:CC | acceptor_gain | 1.0000 |
| 6:132756042:CAAAT:C | acceptor_gain | 1.0000 |
| 6:132757414:ACCTG:A | donor_loss | 1.0000 |
| 6:132757542:GCACC:G | acceptor_gain | 1.0000 |
| 6:132757543:CACC:C | acceptor_gain | 1.0000 |
| 6:132757543:CACCC:C | acceptor_gain | 1.0000 |
| 6:132757544:ACC:A | acceptor_gain | 1.0000 |
| 6:132757545:CC:C | acceptor_gain | 1.0000 |
| 6:132757545:CCC:C | acceptor_gain | 1.0000 |
| 6:132757545:CCCTG:C | acceptor_loss | 1.0000 |
| 6:132757546:CCTG:C | acceptor_gain | 1.0000 |
AlphaMissense
3407 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:132751514:A:C | S277R | 0.991 |
| 6:132751514:A:T | S277R | 0.991 |
| 6:132751516:T:G | S277R | 0.991 |
| 6:132756002:G:C | S126R | 0.989 |
| 6:132756002:G:T | S126R | 0.989 |
| 6:132756004:T:G | S126R | 0.989 |
| 6:132752527:A:G | W254R | 0.985 |
| 6:132752527:A:T | W254R | 0.985 |
| 6:132755853:C:G | R176P | 0.983 |
| 6:132755857:C:G | A175P | 0.983 |
| 6:132757799:C:G | A29P | 0.983 |
| 6:132755994:G:T | A129D | 0.982 |
| 6:132755843:C:A | K179N | 0.978 |
| 6:132755843:C:G | K179N | 0.978 |
| 6:132755868:C:A | G171V | 0.978 |
| 6:132752649:T:A | D213V | 0.976 |
| 6:132749862:A:G | C402R | 0.975 |
| 6:132752649:T:G | D213A | 0.975 |
| 6:132752650:C:G | D213H | 0.975 |
| 6:132752654:G:C | C211W | 0.975 |
| 6:132752723:A:C | F188L | 0.974 |
| 6:132752723:A:T | F188L | 0.974 |
| 6:132752725:A:G | F188L | 0.974 |
| 6:132755881:A:C | Y167D | 0.974 |
| 6:132751246:A:G | C367R | 0.970 |
| 6:132744417:C:A | R482S | 0.969 |
| 6:132744417:C:G | R482S | 0.969 |
| 6:132755869:C:G | G171R | 0.969 |
| 6:132755869:C:T | G171R | 0.969 |
| 6:132755883:A:T | V166E | 0.969 |
dbSNP variants (sampled 300 via entrez): RS1000216262 (6:132749459 A>C), RS1000281253 (6:132764998 T>C,G), RS1000447346 (6:132765252 C>G), RS1000667971 (6:132748588 A>C), RS1000929920 (6:132755384 T>C), RS1001164080 (6:132750186 G>A), RS1001316652 (6:132748401 A>C), RS1001427200 (6:132750603 G>A), RS1001498438 (6:132753628 T>A,C), RS1001665973 (6:132749586 G>A), RS1001845842 (6:132753325 C>T), RS1001871909 (6:132757668 T>A), RS1002151096 (6:132762342 G>T), RS1002221195 (6:132747099 T>C), RS1002226289 (6:132760240 T>A,G)
Disease associations
OMIM: gene MIM:603571 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): prostate cancer (MONDO:0008315)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| 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 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Acetaminophen | decreases expression | 2 |
| Tobacco Smoke Pollution | decreases expression, affects expression | 2 |
| Antirheumatic Agents | decreases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases methylation | 1 |
| epigallocatechin gallate | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | decreases expression | 1 |
| gardiquimod | increases expression, decreases reaction | 1 |
| Zoledronic Acid | increases expression | 1 |
| Air Pollutants | increases abundance, affects expression | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Nickel | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Silicon Dioxide | increases expression | 1 |
| Tetrachlorodibenzodioxin | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Palmitic Acid | decreases expression | 1 |
| Protein Kinase Inhibitors | decreases reaction, increases 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
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.