MSMB
gene geneOn this page
Also known as PSP-94PSP57PSP94IGBFMSPMSPBPN44PRPSPSP
Summary
MSMB (microseminoprotein beta, HGNC:7372) is a protein-coding gene on chromosome 10q11.22, encoding Beta-microseminoprotein (P08118).
The protein encoded by this gene is a member of the immunoglobulin binding factor family. It is synthesized by the epithelial cells of the prostate gland and secreted into the seminal plasma. This protein has inhibin-like activity. It may have a role as an autocrine paracrine factor in uterine, breast and other female reproductive tissues. The expression of the encoded protein is found to be decreased in prostate cancer. Two alternatively spliced transcript variants encoding different isoforms are described for this gene. The use of alternate polyadenylation sites has been found for this gene.
Source: NCBI Gene 4477 — RefSeq curated summary.
At a glance
- Gene–disease (curated): prostate cancer, hereditary, 13 (Limited, GenCC)
- GWAS associations: 18
- Clinical variants (ClinVar): 17 total
- MANE Select transcript:
NM_002443
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7372 |
| Approved symbol | MSMB |
| Name | microseminoprotein beta |
| Location | 10q11.22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PSP-94, PSP57, PSP94, IGBF, MSP, MSPB, PN44, PRPS, PSP |
| Ensembl gene | ENSG00000263639 |
| Ensembl biotype | protein_coding |
| OMIM | 157145 |
| Entrez | 4477 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 3 protein_coding
ENST00000581478, ENST00000582163, ENST00000663171
RefSeq mRNA: 2 — MANE Select: NM_002443
NM_002443, NM_138634
CCDS: CCDS73095, CCDS73096
Canonical transcript exons
ENST00000582163 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002685605 | 46033313 | 46033551 |
| ENSE00003520199 | 46046235 | 46046269 |
| ENSE00003543897 | 46039986 | 46040091 |
| ENSE00003660457 | 46038966 | 46039071 |
Expression profiles
Bgee: expression breadth ubiquitous, 179 present calls, max score 99.93.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.6518 / max 1231.5593, expressed in 142 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 109268 | 2.6247 | 140 |
| 109267 | 0.0271 | 14 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| trachea | UBERON:0003126 | 99.93 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 99.89 | gold quality |
| bronchial epithelial cell | CL:0002328 | 99.78 | gold quality |
| bronchus | UBERON:0002185 | 99.75 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 99.74 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 99.74 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 99.58 | gold quality |
| prostate gland | UBERON:0002367 | 98.21 | gold quality |
| sperm | CL:0000019 | 97.70 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 97.04 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 96.61 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 95.51 | gold quality |
| male germ cell | CL:0000015 | 93.55 | gold quality |
| pylorus | UBERON:0001166 | 92.54 | gold quality |
| urethra | UBERON:0000057 | 90.80 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.79 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.73 | gold quality |
| skin of leg | UBERON:0001511 | 87.11 | gold quality |
| skin of abdomen | UBERON:0001416 | 85.56 | gold quality |
| zone of skin | UBERON:0000014 | 84.75 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 83.84 | gold quality |
| minor salivary gland | UBERON:0001830 | 83.24 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 81.27 | gold quality |
| upper arm skin | UBERON:0004263 | 80.73 | gold quality |
| mammalian vulva | UBERON:0000997 | 80.66 | gold quality |
| adult organism | UBERON:0007023 | 79.48 | gold quality |
| body of stomach | UBERON:0001161 | 79.06 | gold quality |
| pancreatic ductal cell | CL:0002079 | 78.69 | silver quality |
| stomach | UBERON:0000945 | 78.51 | gold quality |
| mouth mucosa | UBERON:0003729 | 78.10 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-2 | yes | 7948.40 |
| E-CURD-114 | yes | 53.58 |
| E-HCAD-1 | yes | 8.29 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CNOT7, CNOT8, CREB1, EZH2
miRNA regulators (miRDB)
7 targeting MSMB, 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-6513-3P | 99.59 | 69.77 | 1102 |
| HSA-MIR-4784 | 99.15 | 67.41 | 1733 |
| HSA-MIR-3150B-3P | 98.81 | 67.21 | 1728 |
| HSA-MIR-6866-5P | 96.64 | 68.06 | 624 |
| HSA-MIR-550B-2-5P | 96.56 | 64.61 | 646 |
| HSA-MIR-24-1-5P | 95.57 | 65.85 | 492 |
| HSA-MIR-24-2-5P | 95.57 | 66.16 | 484 |
Literature-anchored findings (GeneRIF, showing 40)
- Ab initio structure of human seminal plasma prostatic inhibin gives significant insight into its biological functions. (PMID:12032598)
- a new blood protein (PSPBP) is identified that binds PSP94 (PMID:15344909)
- NMR solution structure (PMID:16930619)
- Bound/free PSP94 is a novel and independent prognostic markers following radical prostatectomy for prostate cancer. (PMID:17062675)
- Our data disclose a hitherto unexplored link between the putative oncogene EZH2 and the tumor suppressor PSP94, and show that MSMB is silenced by EZH2 in advanced prostate cancer cells. (PMID:17237810)
- both native PSP94 as well as modified protein have the ability to bind human IgG, suggesting the involvement of sequential epitopes of PSP94 in IgG binding (PMID:17493883)
- Predictor of recurrence after radical prostatectomy for localized prostate cancer. (PMID:17634540)
- MSP in serum can be used as a marker of prostate secretion, despite the contribution from extra prostatic tissues. (PMID:18222915)
- A tentative structure for the hMSP-CRISP-3 complex using the known crystal structure of triflin as a model of CRISP-3 was presented. (PMID:19026612)
- alternative splicing variants, M-RIP, HYAL2, CDCA1, and MSMB genes showed differential expressions between cancer cells and corresponding normal tissues. (PMID:19081476)
- The observations that rs10993994 is the strongest associated variant in the region and its risk allele has a major effect on the transcriptional activity of MSMB suggest the T allele as a causal variant that confers increased risk of prostate cancer. (PMID:19153072)
- PSP94 has been purified from human seminal plasma and crystallized. (PMID:19342788)
- a common variant in MSMB on chromosome 10q11.2 is associated with prostate cancer susceptibility (PMID:19383797)
- beta-Microseminoprotein was purified using anion-exchange and size-exclusion chromatography and the purified protein was crystallized using 0.1 M ammonium sulfate, 0.1 M HEPES buffer pH 7.0 and 20%(w/v) PEG 3350 (PMID:19407392)
- For the two SNPs that had significant differences between more and less aggressive disease, KLK3 and MSMB, the alleles that are associated with increased risk for prostate cancer were more frequent in patients with less aggressive disease. (PMID:19434657)
- We conclude that MSMB is unlikely to be a familial prostate cancer gene.The high-risk alleles may effect prostate cancer risk by modifying MSMB gene expression in response to hormones in a tissue-specific manner. (PMID:19997100)
- Crystal structure shows that these edges from two PSP94 monomers associate in antiparallel fashion, leading to formation of a dimer. (PMID:20184897)
- A single-nucleotide polymorphism in the MSMB promoter contributes to the genetic predisposition to prostate cancer in the southern Chinese Han population. (PMID:20333697)
- we identifiedand genotyped novel single-nucleotide polymorphisms in cancer cases and controls which verified prior associations in KLK2 and in MSMB (but not in KLK3) with prostate cancer (PMID:20424135)
- High MSMB expression is associated with the development of prostate cancer. (PMID:20569440)
- Either PSP94 or CRISP-3 alone can induce growth inhibition in prostate cancer cells in a cell line specific manner. (PMID:20676114)
- MSMB expression is influenced by androgens, but also by genotype and epigenetic silencing. (PMID:20680031)
- SNPs at MSMB correlate with physiologic variation in beta-MSP and PSA levels in the blood and semen of healthy young Swedish men. In particular, rs10993994 has a strong effect on beta-MSP levels. (PMID:20696662)
- Authors examines the association between rs10993994 genotype and MSP levels in a sample of 500 prostate cancer-free men from four racial/ethnic populations in the Multiethnic Cohort (European Americans, African Americans, Latinos, and Japanese Americans). (PMID:20736317)
- provide the first link between a low penetrance polymorphism for prostate cancer and a potential test in human tissue and bodily fluids (PMID:20967219)
- Suppression of MSMB expression or NCOA4 overexpression promotes anchorage-independent growth of prostate epithelial cells. (PMID:21085629)
- MSMB is a strong independent factor, predicting favorable outcome after radical prostatectomy for localized prostate cancer. (PMID:21240253)
- These data identify beta-microseminoprotein as an important innate immune factor active against C. albicans and may help explain the low sexual transmission rate of Candida. (PMID:22496651)
- Computational network analysis reveals that the MSMB gene is functionally connected to NCOA4 and the androgen receptor signaling pathway. The data provide an example of how GWAS-associated variants may have multiple genetic and epigenetic effects (PMID:22661295)
- Data indicate that the increase in prostate cancer (PC) risk associated with rs10993994:C>T is likely mediated by the variant’s effect of MSMB-encoded protein PSP94 expression; however, this effect does not extend to NCOA4 in the data. (PMID:22887727)
- MSMB and CRISP3 were widely distributed in ovaries and in ovarian tumors; the expression of MSMB fits well with a tumor-suppressor function in ovarian carcinogenesis. (PMID:22993349)
- Involvement of the hinge region of CRISPs in interaction with PSP94 may affect the domain movement of CRISPs essential for the ion-channel regulatory activity resulting in inhibition of this activity. (PMID:23375721)
- Two SNPs, in beta-microseminoprotein at and in kallikrein-related peptidase 2 at, are associated with PCA3 score at genome-wide significance level (PMID:23555189)
- Han Chinese men carrying the MSMB variant have an increased risk of spermatogenic failure associated with male infertility. (PMID:23608167)
- The rs10993994 genotype in the MSMB gene modifies the association between number of sexual partners and prostate cancer risk. (PMID:24037734)
- Beta-microseminoprotein in urine was statistically lower in prostate cancer patients. (PMID:24115268)
- Data indicate that prostate secretory protein PSP94 is decreased in an ovarian cancer drug-resistant cell line, and plays an important role in the development of drug resistance in vitro. (PMID:24186202)
- PSP94 regulate the Lin28/Let-7 loop in ovarian cancer cells. (PMID:25188517)
- Based on nasopharyngeal MSP gene expression in readily available Nasopharyngeal aspirate samples , we can discriminate between severity of disease in Respiratory syncytial virus infected infants. (PMID:25261323)
- decreased expression of MSMB parallels the clinical progression of PC and adjusted serum MSMB levels are associated with PC risk (PMID:26939004)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | msmbl | ENSDARG00000095807 |
| danio_rerio | si:ch73-132k15.2 | ENSDARG00000095867 |
| mus_musculus | Msmb | ENSMUSG00000021907 |
| rattus_norvegicus | Msmb | ENSRNOG00000039786 |
Paralogs (1): MSMP (ENSG00000215183)
Protein
Protein identifiers
Beta-microseminoprotein — P08118 (reviewed: P08118)
Alternative names: Immunoglobulin-binding factor, PN44, Prostate secreted seminal plasma protein, Prostate secretory protein of 94 amino acids, Seminal plasma beta-inhibin
All UniProt accessions (2): A0A590UJG9, P08118
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Homodimer; Interacts with PI16.
Subcellular location. Secreted.
Tissue specificity. Strongly expressed in prostate, liver, kidney, breast and penis. Also expressed in pancreas, esophagus, stomach, deodenum, colon, trachea, lung, salivary glands and fallopian tube. PSP94 is expressed in lung and breast, whereas PSP57 is found in kidney and bladder.
Disease relevance. Prostate cancer, hereditary, 13 (HPC13) [MIM:611928] A condition associated with familial predisposition to cancer of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma. Disease susceptibility is associated with variants affecting the gene represented in this entry.
Miscellaneous. Specific receptors for this protein are found on spermatozoa and in the prostate.
Similarity. Belongs to the beta-microseminoprotein family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P08118-1 | PSP94 | yes |
| P08118-2 | PSP57 |
RefSeq proteins (2): NP_002434, NP_619540 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008735 | PSP94 | Family |
Pfam: PF05825
UniProt features (30 total): sequence variant 9, strand 9, disulfide bond 5, splice variant 2, signal peptide 1, chain 1, sequence conflict 1, turn 1, helix 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3IX0 | X-RAY DIFFRACTION | 2.3 |
| 2IZ3 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P08118-F1 | 89.04 | 0.74 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (5): 22–70, 38–62, 57–93, 60–69, 84–107
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 104 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, FREAC2_01, GOZGIT_ESR1_TARGETS_DN, RACCACAR_AML_Q6, FOXO4_01, STOSSI_RESPONSE_TO_ESTRADIOL, EFC_Q6, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, SMID_BREAST_CANCER_LUMINAL_B_UP, MODULE_165, HFH1_01, MODULE_88, AML1_01, MODULE_6
GO Biological Process (0):
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (3): obsolete extracellular space (GO:0005615), nucleus (GO:0005634), extracellular region (GO:0005576)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
908 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MSMB | GZMK | P49863 | 980 |
| MSMB | PRPS1L1 | P21108 | 926 |
| MSMB | PRPS1 | P09329 | 919 |
| MSMB | PRPS2 | P11908 | 898 |
| MSMB | KLK3 | P07288 | 884 |
| MSMB | ACP3 | P15309 | 880 |
| MSMB | R4GMX3 | R4GMX3 | 879 |
| MSMB | BMI1 | P35226 | 878 |
| MSMB | KLK2 | P20151 | 873 |
| MSMB | PI16 | Q6UXB8 | 844 |
| MSMB | TGM4 | P49221 | 836 |
| MSMB | PRNP | P04156 | 802 |
| MSMB | KLKB1 | P03952 | 798 |
| MSMB | MSMP | Q1L6U9 | 777 |
| MSMB | SLC45A3 | Q96JT2 | 769 |
IntAct
6 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SGTA | MSMB | psi-mi:“MI:0915”(physical association) | 0.560 |
| MSMB | SGTA | psi-mi:“MI:0915”(physical association) | 0.560 |
| HAT1 | CSTA | psi-mi:“MI:0914”(association) | 0.350 |
| MSMB | ADAM11 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (49): SGTA (Two-hybrid), HAT1 (Affinity Capture-MS), ACPP (Affinity Capture-MS), SEMG1 (Affinity Capture-MS), KLK3 (Affinity Capture-MS), SEMG2 (Affinity Capture-MS), MSMB (Affinity Capture-MS), MSMB (Affinity Capture-MS), CSTA (Affinity Capture-MS), PEX6 (Affinity Capture-MS), DNPEP (Affinity Capture-MS), BMP1 (Affinity Capture-MS), ARF6 (Affinity Capture-MS), OAF (Affinity Capture-MS), TMEM67 (Affinity Capture-MS)
ESM2 similar proteins: A0A2P1BSU3, A1BN60, A7VN14, A7VN15, A7VN16, A7VN17, B3F211, O02826, O08540, O42146, O57340, O97935, O97936, O97949, P01001, P01215, P01220, P01225, P01226, P01228, P04155, P08118, P0C552, P0C553, P0DKR6, P0DQG7, P16035, P16368, P25142, P49122, P58062, P83242, P97580, Q28767, Q2PUH2, Q3HRV5, Q3YC03, Q53B52, Q63467, Q863T4
Diamond homologs: A7VN13, A7VN14, A7VN15, A7VN16, A7VN17, O97935, O97936, O97949, P08118, B1AWI6, O02826, O08540, P25142, P83242, P97580, Q28767, Q3UQ28, Q92626
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
17 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 12 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
700 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:46039983:G:GG | donor_gain | 1.0000 |
| 10:46039985:GA:G | donor_gain | 1.0000 |
| 10:46039985:GAG:G | donor_gain | 1.0000 |
| 10:46039986:GGA:G | donor_gain | 1.0000 |
| 10:46033550:G:GG | acceptor_gain | 0.9900 |
| 10:46033550:GT:G | acceptor_gain | 0.9900 |
| 10:46033551:A:AG | acceptor_gain | 0.9900 |
| 10:46038963:G:GG | donor_gain | 0.9900 |
| 10:46038967:CCCT:C | donor_gain | 0.9900 |
| 10:46040090:GAAT:G | acceptor_gain | 0.9900 |
| 10:46033534:G:A | acceptor_gain | 0.9800 |
| 10:46038966:CCT:C | donor_gain | 0.9800 |
| 10:46039986:GGAG:G | donor_gain | 0.9800 |
| 10:46039987:AGGA:A | donor_gain | 0.9800 |
| 10:46039988:CAGGA:C | donor_gain | 0.9800 |
| 10:46033535:T:TA | acceptor_gain | 0.9700 |
| 10:46038965:CT:C | donor_gain | 0.9700 |
| 10:46038875:GGGT:G | donor_gain | 0.9600 |
| 10:46036315:T:G | acceptor_gain | 0.9500 |
| 10:46036315:T:TA | acceptor_gain | 0.9500 |
| 10:46039070:G:GG | acceptor_gain | 0.9500 |
| 10:46039071:A:AG | acceptor_gain | 0.9500 |
| 10:46040090:G:GG | acceptor_gain | 0.9500 |
| 10:46040090:GA:G | acceptor_gain | 0.9500 |
| 10:46040091:A:AG | acceptor_gain | 0.9500 |
| 10:46035109:A:G | acceptor_gain | 0.9400 |
| 10:46036316:AT:A | acceptor_gain | 0.9400 |
| 10:46038968:ACCCT:A | donor_gain | 0.9400 |
| 10:46046232:G:GG | donor_gain | 0.9400 |
| 10:46033550:G:GC | acceptor_loss | 0.9300 |
AlphaMissense
754 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:46039025:C:A | W52C | 0.983 |
| 10:46039025:C:G | W52C | 0.983 |
| 10:46033516:C:G | C84S | 0.952 |
| 10:46033517:A:T | C84S | 0.952 |
| 10:46038975:C:G | C69S | 0.936 |
| 10:46038976:A:T | C69S | 0.936 |
| 10:46033431:C:A | W112C | 0.935 |
| 10:46033431:C:G | W112C | 0.935 |
| 10:46033489:C:G | C93S | 0.931 |
| 10:46033490:A:T | C93S | 0.931 |
| 10:46039027:A:G | W52R | 0.927 |
| 10:46039027:A:T | W52R | 0.927 |
| 10:46039002:C:G | C60S | 0.922 |
| 10:46039003:A:T | C60S | 0.922 |
| 10:46033540:G:T | P76H | 0.921 |
| 10:46033447:C:G | C107S | 0.908 |
| 10:46033448:A:T | C107S | 0.908 |
| 10:46039068:C:G | C38S | 0.898 |
| 10:46039069:A:T | C38S | 0.898 |
| 10:46038996:C:G | C62S | 0.891 |
| 10:46038997:A:T | C62S | 0.891 |
| 10:46033433:A:G | W112R | 0.884 |
| 10:46033433:A:T | W112R | 0.884 |
| 10:46038974:A:C | C69W | 0.884 |
| 10:46033515:G:C | C84W | 0.883 |
| 10:46039001:G:C | C60W | 0.881 |
| 10:46033517:A:G | C84R | 0.879 |
| 10:46038976:A:G | C69R | 0.878 |
| 10:46039011:C:G | C57S | 0.875 |
| 10:46039012:A:T | C57S | 0.875 |
dbSNP variants (sampled 300 via entrez): RS1000250609 (10:46046545 T>G), RS1000288381 (10:46034313 G>A,T), RS1000694464 (10:46032961 A>C), RS1002234600 (10:46038122 G>A,C), RS1002609895 (10:46037899 A>G), RS1002991366 (10:46036652 A>G), RS1003377992 (10:46040873 G>A), RS1003847693 (10:46046992 G>T), RS1004181946 (10:46038327 G>A,C), RS1004319281 (10:46038152 A>T), RS1004645848 (10:46036656 G>A), RS1005160371 (10:46047426 C>T), RS1005375405 (10:46041508 G>A), RS1006185212 (10:46035194 G>A,C), RS1006328980 (10:46034750 A>G)
Disease associations
OMIM: gene MIM:157145 | disease phenotypes: MIM:611928
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| prostate cancer, hereditary, 13 | Limited | Autosomal dominant |
Mondo (1): prostate cancer, hereditary, 13 (MONDO:0012758)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
18 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000152_2 | Prostate cancer | 9.000000e-29 |
| GCST000154_2 | Prostate cancer | 7.000000e-13 |
| GCST000585_12 | Mean corpuscular volume | 7.000000e-09 |
| GCST000587_13 | Mean corpuscular hemoglobin | 6.000000e-10 |
| GCST000750_8 | Prostate cancer | 3.000000e-08 |
| GCST000919_5 | Serum prostate-specific antigen levels | 7.000000e-13 |
| GCST001147_13 | Prostate cancer | 5.000000e-06 |
| GCST001796_2 | Prostate-specific antigen levels | 5.000000e-17 |
| GCST001946_3 | PCA3 expression level | 1.000000e-09 |
| GCST002413_7 | Prostate cancer (early onset) | 2.000000e-07 |
| GCST002421_2 | Prostate cancer | 3.000000e-26 |
| GCST002703_3 | Prostate-specific antigen levels | 7.000000e-11 |
| GCST002890_7 | Prostate cancer | 1.000000e-15 |
| GCST003148_12 | Prostate cancer | 4.000000e-08 |
| GCST004093_35 | Prostate-specific antigen levels | 1.000000e-50 |
| GCST006585_427 | Blood protein levels | 0.000000e+00 |
| GCST008231_1 | Prostate cancer | 1.000000e-10 |
| GCST008860_28 | Prostate cancer | 5.000000e-10 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004509 | hemoglobin measurement |
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0005127 | cancer biomarker measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C567456 | Prostate Cancer, Hereditary, 13 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Dihydrotestosterone | affects reaction, increases expression | 4 |
| Estradiol | decreases reaction, increases expression, decreases expression | 3 |
| sodium arsenite | affects methylation, decreases expression | 2 |
| 1,2-dibromo-4-(1,2-dibromoethyl)cyclohexane | increases expression, affects reaction | 2 |
| 2,3-dibromopropyl-2,4,6-tribromophenyl ether | decreases expression | 2 |
| Air Pollutants | increases abundance, increases expression, decreases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases expression | 2 |
| Smoke | decreases expression, increases abundance | 2 |
| Aflatoxin B1 | increases expression, increases methylation | 2 |
| Genistein | affects cotreatment, increases expression, increases reaction | 2 |
| Raloxifene Hydrochloride | affects reaction, decreases expression, affects expression, affects cotreatment, increases expression | 2 |
| allyl 2,4,6-tribromophenyl ether | decreases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| potassium persulfate | increases expression | 1 |
| hydroxyflutamide | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| procymidone | decreases expression | 1 |
| pentanal | decreases expression | 1 |
| bicalutamide | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| enzalutamide | decreases expression | 1 |
| 3-hydroxy-4-prenyl-5-methoxystilbene-2-carboxylic acid | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression, increases reaction | 1 |
| Diethylstilbestrol | increases expression | 1 |
| Folic Acid | increases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Linuron | decreases expression | 1 |
| Methylcholanthrene | affects binding, increases reaction, increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: prostate cancer, hereditary, 13
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): prostate cancer, hereditary, 13