SERPINB13
gene geneOn this page
Also known as HUR7
Summary
SERPINB13 (serpin family B member 13, HGNC:8944) is a protein-coding gene on chromosome 18q21.33, encoding Serpin B13 (Q9UIV8). May play a role in the proliferation or differentiation of keratinocytes.
The protein encoded by this gene is a member of the serpin family of serine protease inhibitors. The encoded protein inhibits the activity of cathepsin K and is itself transcriptionally repressed by RUNX1. This gene is downregulated in many types of cancer.
Source: NCBI Gene 5275 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 62 total
- MANE Select transcript:
NM_012397
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:8944 |
| Approved symbol | SERPINB13 |
| Name | serpin family B member 13 |
| Location | 18q21.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HUR7 |
| Ensembl gene | ENSG00000197641 |
| Ensembl biotype | protein_coding |
| OMIM | 604445 |
| Entrez | 5275 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 4 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000269489, ENST00000344731, ENST00000415733, ENST00000431153, ENST00000438844, ENST00000479842
RefSeq mRNA: 6 — MANE Select: NM_012397
NM_001307923, NM_001348267, NM_001348268, NM_001348269, NM_001348270, NM_012397
CCDS: CCDS11985, CCDS77195
Canonical transcript exons
ENST00000344731 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000950306 | 63589656 | 63589715 |
| ENSE00000950307 | 63592348 | 63592476 |
| ENSE00000950308 | 63592854 | 63592971 |
| ENSE00001923386 | 63596959 | 63599192 |
| ENSE00001935559 | 63587343 | 63587450 |
| ENSE00003566033 | 63588651 | 63588832 |
| ENSE00003598818 | 63594355 | 63594497 |
| ENSE00003659575 | 63595029 | 63595184 |
Expression profiles
Bgee: expression breadth ubiquitous, 149 present calls, max score 99.56.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.5554 / max 1144.3197, expressed in 102 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 170589 | 1.7862 | 87 |
| 170588 | 0.4688 | 60 |
| 170587 | 0.1868 | 52 |
| 208581 | 0.0522 | 28 |
| 170584 | 0.0220 | 6 |
| 170586 | 0.0143 | 10 |
| 170583 | 0.0134 | 6 |
| 170585 | 0.0116 | 5 |
Top tissues by expression
260 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tongue squamous epithelium | UBERON:0006919 | 99.56 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 99.44 | gold quality |
| cervix epithelium | UBERON:0004801 | 99.08 | gold quality |
| gingiva | UBERON:0001828 | 99.07 | gold quality |
| oral cavity | UBERON:0000167 | 98.99 | gold quality |
| gingival epithelium | UBERON:0001949 | 98.98 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 98.88 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 98.61 | gold quality |
| buccal mucosa cell | CL:0002336 | 98.46 | gold quality |
| body of tongue | UBERON:0011876 | 98.42 | gold quality |
| squamous epithelium | UBERON:0006914 | 98.33 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 97.85 | gold quality |
| mammalian vulva | UBERON:0000997 | 97.83 | gold quality |
| esophagus mucosa | UBERON:0002469 | 97.71 | gold quality |
| penis | UBERON:0000989 | 97.50 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 97.23 | gold quality |
| tongue | UBERON:0001723 | 94.36 | gold quality |
| upper leg skin | UBERON:0004262 | 90.44 | gold quality |
| upper arm skin | UBERON:0004263 | 90.26 | gold quality |
| vagina | UBERON:0000996 | 89.45 | gold quality |
| trachea | UBERON:0003126 | 87.96 | gold quality |
| superior surface of tongue | UBERON:0007371 | 87.87 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 87.79 | gold quality |
| amniotic fluid | UBERON:0000173 | 87.35 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 85.12 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 84.85 | gold quality |
| skin of abdomen | UBERON:0001416 | 83.58 | gold quality |
| zone of skin | UBERON:0000014 | 83.47 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 83.02 | gold quality |
| skin of leg | UBERON:0001511 | 82.24 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-114 | yes | 380.06 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): RUNX1
miRNA regulators (miRDB)
78 targeting SERPINB13, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
Literature-anchored findings (GeneRIF, showing 8)
- A novel member of the serine proteinase inhibitor (Serpin) gene family that was originally cloned from a keratinocyte cDNA library. It has specificity for inhibiting lysosomal cysteine proteinases. (PMID:12504904)
- Hurpin is a selective inhibitor of lysosomal cathepsin L and protects keratinocytes from ultraviolet-induced apoptosis. (PMID:12809493)
- hurpin is expressed in skin and has a possible role in inflammatory processes or the regulation of endogenous or pathogen-derived proteinase activity (PMID:15885077)
- Down-regulation of SERPINB13 is associated with head and neck squamous cell carcinoma (PMID:16357159)
- the expression of hurpin was confined mainly to the basal layer in normal skin samples, whereas hurpin was overexpressed and redistributed in diseased skin (PMID:16433682)
- Downregulation of SERPINB13 protein expression in HNSCC is positively associated with poor clinical outcome. Therefore, SERPINB13 seems to act as an important protease inhibitor involved in the progression of HNSCC. (PMID:19569240)
- These data demonstrate that RUNX1 is an important regulator of SERPINB13 and cathepsin K activity. (PMID:21723253)
- clade B serpins help to maintain homeostasis by inducing protective humoral immunity (PMID:22593614)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Serpinb13 | ENSMUSG00000048775 |
| rattus_norvegicus | Serpinb13 | ENSRNOG00000028194 |
Paralogs (36): SERPINB1 (ENSG00000021355), SERPINB3 (ENSG00000057149), SERPIND1 (ENSG00000099937), SERPINA4 (ENSG00000100665), SERPINE1 (ENSG00000106366), SERPINI2 (ENSG00000114204), SERPINC1 (ENSG00000117601), SERPINA7 (ENSG00000123561), SERPINB6 (ENSG00000124570), SERPINF1 (ENSG00000132386), AGT (ENSG00000135744), SERPINE2 (ENSG00000135919), SERPINA10 (ENSG00000140093), SERPING1 (ENSG00000149131), SERPINH1 (ENSG00000149257), SERPINI1 (ENSG00000163536), SERPINA12 (ENSG00000165953), SERPINB7 (ENSG00000166396), SERPINB8 (ENSG00000166401), SERPINB12 (ENSG00000166634), SERPINF2 (ENSG00000167711), SERPINA9 (ENSG00000170054), SERPINA6 (ENSG00000170099), SERPINB9 (ENSG00000170542), SERPINA11 (ENSG00000186910), SERPINA5 (ENSG00000188488), SERPINA3 (ENSG00000196136), SERPINA1 (ENSG00000197249), SERPINB2 (ENSG00000197632), SERPINB11 (ENSG00000206072), SERPINB4 (ENSG00000206073), SERPINB5 (ENSG00000206075), HMSD (ENSG00000221887), SERPINB10 (ENSG00000242550), SERPINE3 (ENSG00000253309), SERPINA2 (ENSG00000258597)
Protein
Protein identifiers
Serpin B13 — Q9UIV8 (reviewed: Q9UIV8)
Alternative names: HaCaT UV-repressible serpin, Headpin, Peptidase inhibitor 13, Proteinase inhibitor 13
All UniProt accessions (5): A0A0A0MQW3, C9JL93, F8WE70, Q9UIV8, H7BZS9
UniProt curated annotations — full annotation on UniProt →
Function. May play a role in the proliferation or differentiation of keratinocytes.
Subcellular location. Cytoplasm.
Tissue specificity. Skin specific.
Similarity. Belongs to the serpin family. Ov-serpin subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UIV8-1 | 1 | yes |
| Q9UIV8-2 | 2 |
RefSeq proteins (6): NP_001294852, NP_001335196, NP_001335197, NP_001335198, NP_001335199, NP_036529* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000215 | Serpin_fam | Family |
| IPR023795 | Serpin_CS | Conserved_site |
| IPR023796 | Serpin_dom | Domain |
| IPR036186 | Serpin_sf | Homologous_superfamily |
| IPR042178 | Serpin_sf_1 | Homologous_superfamily |
| IPR042185 | Serpin_sf_2 | Homologous_superfamily |
Pfam: PF00079
UniProt features (7 total): sequence conflict 3, chain 1, site 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UIV8-F1 | 87.44 | 0.69 |
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): 356–357 (reactive bond)
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-8939242 | RUNX1 regulates transcription of genes involved in differentiation of keratinocytes |
| R-HSA-212436 | Generic Transcription Pathway |
| R-HSA-73857 | RNA Polymerase II Transcription |
| R-HSA-74160 | Gene expression (Transcription) |
| R-HSA-8878171 | Transcriptional regulation by RUNX1 |
MSigDB gene sets: 111 (showing top):
GOBP_NEGATIVE_REGULATION_OF_PROTEOLYSIS, GOBP_REGULATION_OF_EPITHELIAL_CELL_APOPTOTIC_PROCESS, JAEGER_METASTASIS_DN, GOBP_NEGATIVE_REGULATION_OF_HYDROLASE_ACTIVITY, AMIT_SERUM_RESPONSE_20_MCF10A, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, ONDER_CDH1_TARGETS_3_DN, GOBP_REGULATION_OF_HYDROLASE_ACTIVITY, GOBP_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_APOPTOTIC_PROCESS, GOBP_REGULATION_OF_PEPTIDASE_ACTIVITY, GOBP_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION, GOBP_RESPONSE_TO_UV, GOBP_RESPONSE_TO_RADIATION, GOBP_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS
GO Biological Process (4): response to UV (GO:0009411), negative regulation of endopeptidase activity (GO:0010951), regulation of proteolysis (GO:0030162), negative regulation of keratinocyte apoptotic process (GO:1902173)
GO Molecular Function (6): protease binding (GO:0002020), serine-type endopeptidase inhibitor activity (GO:0004867), cysteine-type endopeptidase inhibitor activity (GO:0004869), endopeptidase inhibitor activity (GO:0004866), protein binding (GO:0005515), peptidase inhibitor activity (GO:0030414)
GO Cellular Component (8): obsolete extracellular space (GO:0005615), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), nuclear speck (GO:0016607), lysosomal lumen (GO:0043202), extracellular exosome (GO:0070062), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Transcriptional regulation by RUNX1 | 1 |
| RNA Polymerase II Transcription | 1 |
| Gene expression (Transcription) | 1 |
| Generic Transcription Pathway | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| endopeptidase activity | 2 |
| endopeptidase inhibitor activity | 2 |
| response to light stimulus | 1 |
| negative regulation of peptidase activity | 1 |
| regulation of endopeptidase activity | 1 |
| proteolysis | 1 |
| regulation of protein metabolic process | 1 |
| keratinocyte apoptotic process | 1 |
| regulation of keratinocyte apoptotic process | 1 |
| negative regulation of epithelial cell apoptotic process | 1 |
| enzyme binding | 1 |
| serine-type endopeptidase activity | 1 |
| cysteine-type endopeptidase activity | 1 |
| peptidase inhibitor activity | 1 |
| endopeptidase regulator activity | 1 |
| binding | 1 |
| enzyme inhibitor activity | 1 |
| peptidase activity | 1 |
| peptidase regulator activity | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| nuclear ribonucleoprotein granule | 1 |
| lysosome | 1 |
| vacuolar lumen | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
760 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SERPINB13 | CTSL | P07711 | 623 |
| SERPINB13 | KLK6 | Q92876 | 485 |
| SERPINB13 | S100A7 | P31151 | 482 |
| SERPINB13 | BPIFB1 | Q8TDL5 | 478 |
| SERPINB13 | KRT6A | P02538 | 445 |
| SERPINB13 | S100A12 | P80511 | 444 |
| SERPINB13 | KLK14 | Q9P0G3 | 444 |
| SERPINB13 | KRT6B | P04259 | 426 |
| SERPINB13 | S100A2 | P29034 | 426 |
| SERPINB13 | ING1 | Q9UK53 | 418 |
| SERPINB13 | LCE2A | Q5TA79 | 413 |
| SERPINB13 | CSTA | P01040 | 412 |
| SERPINB13 | SPRR2G | Q9BYE4 | 407 |
| SERPINB13 | KRT77 | Q7Z794 | 406 |
| SERPINB13 | SPRR4 | Q96PI1 | 404 |
IntAct
94 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ANXA9 | PPL | psi-mi:“MI:0914”(association) | 0.660 |
| POLR2L | RCCD1 | psi-mi:“MI:0914”(association) | 0.640 |
| CCNC | MED19 | psi-mi:“MI:0914”(association) | 0.640 |
| DLG2 | SERPINB13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FTH1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.530 |
| TBC1D22B | A2ML1 | psi-mi:“MI:0914”(association) | 0.530 |
| GMCL1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.530 |
| FRMD1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.530 |
| ACAD9 | PPL | psi-mi:“MI:0914”(association) | 0.530 |
| RBM24 | PPL | psi-mi:“MI:0914”(association) | 0.530 |
| ZIC1 | CTSV | psi-mi:“MI:0914”(association) | 0.530 |
| GDF5 | SERPINB7 | psi-mi:“MI:0914”(association) | 0.530 |
| SERPINB13 | TTC4 | psi-mi:“MI:0914”(association) | 0.530 |
| KHDC4 | TYMP | psi-mi:“MI:0914”(association) | 0.530 |
| VPS35 | SPAG9 | psi-mi:“MI:0914”(association) | 0.530 |
| SERPINB13 | BRAF | psi-mi:“MI:2364”(proximity) | 0.470 |
| BRAF | SERPINB13 | psi-mi:“MI:0915”(physical association) | 0.470 |
| TEX14 | DNAJB6 | psi-mi:“MI:0914”(association) | 0.350 |
| GABARAPL1 | psi-mi:“MI:0914”(association) | 0.350 | |
| KLHL11 | PIPSL | psi-mi:“MI:0914”(association) | 0.350 |
| SRRT | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| STX17 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| PI4KAP1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| OR2A4 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP2R2B | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| GABPA | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| RIPPLY3 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| STK11 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| FCF1 | SULT2B1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (101): SERPINB13 (Affinity Capture-MS), SERPINB13 (Affinity Capture-MS), SERPINB13 (Affinity Capture-MS), SERPINB13 (Co-fractionation), ROR1 (Affinity Capture-MS), BSDC1 (Affinity Capture-MS), BRAP (Affinity Capture-MS), C1orf198 (Affinity Capture-MS), RNF34 (Affinity Capture-MS), RBM14-RBM4 (Affinity Capture-MS), SERPINB13 (Affinity Capture-MS), C9orf78 (Affinity Capture-MS), TTC4 (Affinity Capture-MS), ADD2 (Affinity Capture-MS), SERPINB13 (Affinity Capture-MS)
ESM2 similar proteins: A0A090BX51, A2I7M9, A2I7N0, A2I7N2, A5PJK0, A9RA96, B0CMB0, B1MTB7, B1MTC3, B2KI30, B3RFC3, B4USX2, E2RVI8, O08800, O73790, O73860, O75635, P01012, P01013, P01014, P05120, P05544, P09006, P12388, P19104, P29508, P29524, P36952, P48594, P48595, P70124, P70458, P70564, Q03044, Q52L45, Q5I0S8, Q5M8J5, Q5SV42, Q6GLQ1, Q6V115
Diamond homologs: A0A090BX51, A0A0K8RCY5, A0A0K8RJ89, A0A0K8RJV9, A5PJK0, A9RA96, B0CMB0, B1MTB7, B1MTC3, B2KI30, B3RFC3, B4USX2, E2RVI8, O02739, O08800, O35684, O54757, O54758, O54759, O54760, O73790, O73860, O75635, O75830, P01008, P01011, P01012, P01014, P05120, P05619, P12388, P17475, P19104, P22323, P22325, P22922, P23035, P29508, P29524, P30740
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
62 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 57 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1021 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 18:63588830:G:GT | donor_gain | 1.0000 |
| 18:63589650:TTCCA:T | acceptor_loss | 1.0000 |
| 18:63589651:TCCA:T | acceptor_loss | 1.0000 |
| 18:63589652:CCA:C | acceptor_loss | 1.0000 |
| 18:63589653:CAGG:C | acceptor_loss | 1.0000 |
| 18:63589654:A:AC | acceptor_loss | 1.0000 |
| 18:63589655:G:GT | acceptor_loss | 1.0000 |
| 18:63589655:GGT:G | acceptor_gain | 1.0000 |
| 18:63589713:GTG:G | donor_gain | 1.0000 |
| 18:63590321:GAA:G | donor_gain | 1.0000 |
| 18:63592345:A:AG | acceptor_gain | 1.0000 |
| 18:63592346:A:G | acceptor_gain | 1.0000 |
| 18:63595025:GCAG:G | acceptor_loss | 1.0000 |
| 18:63595027:A:AC | acceptor_loss | 1.0000 |
| 18:63595027:A:AG | acceptor_gain | 1.0000 |
| 18:63595028:G:GA | acceptor_loss | 1.0000 |
| 18:63595028:G:GG | acceptor_gain | 1.0000 |
| 18:63595028:GA:G | acceptor_gain | 1.0000 |
| 18:63595028:GAGC:G | acceptor_gain | 1.0000 |
| 18:63595028:GAGCA:G | acceptor_gain | 1.0000 |
| 18:63595180:AGAAG:A | donor_loss | 1.0000 |
| 18:63595182:AAG:A | donor_loss | 1.0000 |
| 18:63595185:GT:G | donor_loss | 1.0000 |
| 18:63595186:T:A | donor_loss | 1.0000 |
| 18:63587447:CGAGG:C | donor_loss | 0.9900 |
| 18:63587448:GAG:G | donor_gain | 0.9900 |
| 18:63587448:GAGGT:G | donor_loss | 0.9900 |
| 18:63587450:GGT:G | donor_loss | 0.9900 |
| 18:63587451:G:C | donor_loss | 0.9900 |
| 18:63587451:G:GG | donor_gain | 0.9900 |
AlphaMissense
2635 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 18:63594483:T:C | F201L | 0.986 |
| 18:63594485:T:A | F201L | 0.986 |
| 18:63594485:T:G | F201L | 0.986 |
| 18:63594453:T:C | F191L | 0.985 |
| 18:63594455:T:A | F191L | 0.985 |
| 18:63594455:T:G | F191L | 0.985 |
| 18:63594441:T:A | W187R | 0.982 |
| 18:63594441:T:C | W187R | 0.982 |
| 18:63597295:T:C | F370L | 0.982 |
| 18:63597297:C:A | F370L | 0.982 |
| 18:63597297:C:G | F370L | 0.982 |
| 18:63594443:G:C | W187C | 0.975 |
| 18:63594443:G:T | W187C | 0.975 |
| 18:63592447:T:C | F109L | 0.966 |
| 18:63592449:T:A | F109L | 0.966 |
| 18:63592449:T:G | F109L | 0.966 |
| 18:63594454:T:C | F191S | 0.965 |
| 18:63597283:T:C | C366R | 0.961 |
| 18:63592908:T:C | F137L | 0.959 |
| 18:63592910:T:A | F137L | 0.959 |
| 18:63592910:T:G | F137L | 0.959 |
| 18:63595054:T:C | M214T | 0.958 |
| 18:63594484:T:C | F201S | 0.954 |
| 18:63597041:T:C | L285S | 0.952 |
| 18:63596995:T:A | W270R | 0.947 |
| 18:63596995:T:C | W270R | 0.947 |
| 18:63594454:T:G | F191C | 0.944 |
| 18:63595055:G:A | M214I | 0.944 |
| 18:63595055:G:C | M214I | 0.944 |
| 18:63595055:G:T | M214I | 0.944 |
dbSNP variants (sampled 300 via entrez): RS1000016646 (18:63593372 C>T), RS1000369284 (18:63593783 T>A), RS1000862780 (18:63586325 C>T), RS1000971638 (18:63592084 G>A,T), RS1000999920 (18:63589995 TA>T), RS1001053583 (18:63590177 G>T), RS1001476501 (18:63586593 G>A), RS1001779540 (18:63586995 T>C), RS1002164351 (18:63586036 T>C), RS1002477909 (18:63585404 T>A), RS1002989159 (18:63589463 A>G), RS1003189473 (18:63598764 G>A), RS1003195653 (18:63588398 T>C), RS1003451861 (18:63589266 A>C), RS1003892632 (18:63585587 T>A)
Disease associations
OMIM: gene MIM:604445 | 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
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004606_36 | Eosinophil count | 9.000000e-11 |
| GCST004617_128 | Eosinophil percentage of granulocytes | 2.000000e-09 |
| GCST004624_17 | Sum eosinophil basophil counts | 1.000000e-09 |
| GCST90002381_558 | Eosinophil count | 3.000000e-26 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004842 | eosinophil count |
| EFO:0007996 | eosinophil percentage of granulocytes |
| EFO:0005090 | basophil count |
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
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression, decreases expression, affects cotreatment, increases abundance | 3 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 2 |
| urushiol | increases expression | 1 |
| bisphenol A | increases methylation | 1 |
| sodium arsenate | decreases expression, increases abundance | 1 |
| pyrogallol 1,3-dimethyl ether | increases expression, affects cotreatment, decreases expression, affects localization | 1 |
| cobaltous chloride | increases expression | 1 |
| cupric chloride | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Calcitriol | decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Dinitrochlorobenzene | affects binding | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Furaldehyde | affects cotreatment, decreases expression, affects localization, increases expression | 1 |
| Lipopolysaccharides | affects cotreatment, increases expression | 1 |
| Nickel | increases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Sodium Chloride | affects cotreatment, affects localization, increases expression, decreases expression | 1 |
| Tetrachlorodibenzodioxin | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
| Lactic Acid | decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 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.