PROK1
gene geneOn this page
Also known as PK1PRK1EGVEGFEG-VEGF
Summary
PROK1 (prokineticin 1, HGNC:18454) is a protein-coding gene on chromosome 1p13.3, encoding Prokineticin-1 (P58294). Potently contracts gastrointestinal (GI) smooth muscle.
The protein encoded by this gene induces proliferation, migration, and fenestration (the formation of membrane discontinuities) in capillary endothelial cells derived from endocrine glands. It has little or no effect on a variety of other endothelial and non-endothelial cell types. Its expression is restricted to the steroidogenic glands (ovary, testis, adrenal, and placenta), is induced by hypoxia, and often complementary to the expression of vascular endothelial growth factor (VEGF), suggesting that these molecules function in a coordinated manner.
Source: NCBI Gene 84432 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 21 total
- MANE Select transcript:
NM_032414
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18454 |
| Approved symbol | PROK1 |
| Name | prokineticin 1 |
| Location | 1p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PK1, PRK1, EGVEGF, EG-VEGF |
| Ensembl gene | ENSG00000143125 |
| Ensembl biotype | protein_coding |
| OMIM | 606233 |
| Entrez | 84432 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000271331
RefSeq mRNA: 1 — MANE Select: NM_032414
NM_032414
CCDS: CCDS825
Canonical transcript exons
ENST00000271331 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000958208 | 110451149 | 110451288 |
| ENSE00000958210 | 110456232 | 110457358 |
| ENSE00001024932 | 110453961 | 110454086 |
Expression profiles
Bgee: expression breadth ubiquitous, 133 present calls, max score 97.41.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.8134 / max 273.2356, expressed in 98 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 4547 | 0.6708 | 92 |
| 4548 | 0.1210 | 35 |
| 4546 | 0.0216 | 6 |
Top tissues by expression
250 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left ovary | UBERON:0002119 | 97.41 | gold quality |
| decidua | UBERON:0002450 | 95.64 | gold quality |
| right ovary | UBERON:0002118 | 94.49 | gold quality |
| right testis | UBERON:0004534 | 93.47 | gold quality |
| left testis | UBERON:0004533 | 92.89 | gold quality |
| testis | UBERON:0000473 | 91.88 | gold quality |
| ovary | UBERON:0000992 | 91.49 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 86.22 | gold quality |
| placenta | UBERON:0001987 | 80.30 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 79.75 | gold quality |
| adult organism | UBERON:0007023 | 79.41 | gold quality |
| adrenal cortex | UBERON:0001235 | 77.37 | gold quality |
| left adrenal gland | UBERON:0001234 | 77.35 | gold quality |
| vagina | UBERON:0000996 | 76.07 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 76.05 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 75.93 | gold quality |
| sperm | CL:0000019 | 75.83 | gold quality |
| right adrenal gland | UBERON:0001233 | 75.07 | gold quality |
| kidney epithelium | UBERON:0004819 | 75.00 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 74.88 | gold quality |
| prostate gland | UBERON:0002367 | 74.43 | gold quality |
| adrenal gland | UBERON:0002369 | 71.72 | gold quality |
| endocervix | UBERON:0000458 | 68.49 | gold quality |
| ectocervix | UBERON:0012249 | 68.15 | gold quality |
| female reproductive system | UBERON:0000474 | 67.69 | gold quality |
| uterine cervix | UBERON:0000002 | 67.64 | gold quality |
| apex of heart | UBERON:0002098 | 67.64 | gold quality |
| superficial temporal artery | UBERON:0001614 | 66.27 | gold quality |
| mucosa of stomach | UBERON:0001199 | 65.79 | gold quality |
| upper arm skin | UBERON:0004263 | 65.71 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-24 | yes | 423.49 |
| E-ANND-3 | no | 1.39 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
40 targeting PROK1, 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-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-6753-3P | 99.93 | 66.57 | 637 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
| HSA-MIR-3150A-3P | 99.76 | 64.44 | 1640 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
| HSA-MIR-6731-5P | 99.28 | 67.42 | 2375 |
| HSA-MIR-8085 | 99.28 | 67.56 | 2362 |
| HSA-MIR-6799-5P | 99.14 | 65.72 | 2093 |
| HSA-MIR-6868-5P | 99.06 | 65.69 | 1284 |
| HSA-MIR-6738-3P | 99.03 | 67.14 | 1326 |
| HSA-MIR-6846-5P | 98.81 | 65.86 | 1121 |
| HSA-MIR-6848-5P | 98.81 | 65.49 | 1126 |
| HSA-MIR-6769B-5P | 98.73 | 64.91 | 1092 |
| HSA-MIR-7851-3P | 98.72 | 64.88 | 980 |
| HSA-MIR-4290 | 98.51 | 65.17 | 907 |
| HSA-MIR-654-3P | 98.38 | 67.61 | 905 |
| HSA-MIR-4305 | 97.94 | 68.63 | 533 |
| HSA-MIR-4638-3P | 97.90 | 65.75 | 905 |
| HSA-MIR-3664-3P | 97.85 | 67.62 | 1452 |
| HSA-MIR-3074-3P | 97.83 | 67.26 | 922 |
| HSA-MIR-3151-3P | 97.80 | 66.16 | 479 |
| HSA-MIR-1972 | 97.67 | 67.38 | 1172 |
| HSA-MIR-3144-5P | 97.64 | 65.45 | 646 |
Literature-anchored findings (GeneRIF, showing 40)
- Bv8 and EG-VEGF, along with other factors such as VEGF-A, may maintain the integrity and also regulate proliferation of the blood vessels in the testis (PMID:12604792)
- The role of EG-VEGF in the regulation of angiogenesis in endocrine glands. Review. (PMID:12858543)
- acting via either PK-R2 or PK-R1, prokineticin 1 may have angiogenic as well as nonangiogenic functions in the ovary (PMID:12915658)
- Paracrine role for the PKs and their receptors in endometrial vascular function. (PMID:15126578)
- Expression of VEGFR-1 mRNA, but not EG-VEGF and the other three VEGF receptors studied, was elevated in preeclamptic vs. normal placentas. (PMID:15126581)
- Human EG-VEGF may play a role in angiogenesis both during the early endocrine development of testis and in the adult testis as well as in Leydig cell tumor growth. (PMID:15292351)
- EG-VEGF may only play a role in vascular function of peri-implantation endometrium, but is unlikely to be associated with the etiology of endometrial cancer development. (PMID:16210375)
- PK1 could be one of the causative factors of age-related macular degeneration (AMD); transgenic mice expressing human PK1 exhibit choroidal neovascularization in a model that may be useful for establishing treatments for the exudative form of AMD. (PMID:16263331)
- Inverse resgulation of mRNA expression by ovarian cells may suggest that in addition to its angiogenic effects, EG-VEGF/PK-1 may also play other roles in ovary. (review) (PMID:16320832)
- study demonstrated that prokineticin 1 and 2 and their receptors are expressed in human prostate and that their levels increased with prostate malignancy (PMID:16763065)
- High EG-VEGF is associated with carcinogenesis and portal vein tumor thrombus formation in human hepatocellular carcinoma (PMID:17167981)
- Overexpressed Prk1 conferred Adriamycin resistance in a human embryo kidney cell line. (PMID:17178891)
- EG-VEGF/Prok-1 signaling has a role in neuroblastoma progression (PMID:17289879)
- Either EG-VEGF is not exclusive of endocrine organs, or the pancreas should be considered as a functional steroidogenic tissue. (PMID:17683928)
- PROK1 and PROKR1 expression is elevated in human decidua during early pregnancy PROK1-PROKR1 interaction regulates expression of a host of implantation-related genes. (PMID:18339712)
- EG-VEGF may enhance cell proliferation through the activation of MAPK pathway, although not through the Akt pathway. (PMID:18571163)
- High PK1 mRNA levels were observed only in cultured pancreatic stellate cells and microdissected islet cells, but not in cancer cells, and PK1 protein was localized mainly in islets and cancer-associated stromal cells. (PMID:19077468)
- EG-VEGF expression was significantly higher in ectopic endometriotic tissue when compared to eutopic samples in infertile women. (PMID:19135668)
- hCG-mediated LIF expression in the endometrium is dependent on prior induction of PROK1. (PMID:19255255)
- Altered expression of PROK1 could be one of the several biochemical abnormalities characterizing eutopic endometrium in endometriosis. (PMID:19285664)
- EG-VEGF protects pancreatic cancer cells from apoptosis through upregulation of myeloid cell leukemia-1, an anti-apoptotic protein of the bcl-2 family. (PMID:19523441)
- findings identify EG-VEGF as a novel paracrine regulator of trophoblast invasion. We speculate that a failure to correctly down-regulate placental expression of EG-VEGF at the end of the first trimester of pregnancy might lead to PE (PMID:19602057)
- Treatment of human decidua with a lentiviral miRNA to abolish endogenous PROK1 expression results in a significant reduction in IL-11 expression and secretion (PMID:19801577)
- Review. Role of prokineticins in inflammatory and contractile pathways at parturition in humans. (PMID:20172976)
- When endometrial stromal cells from both groups of women were differentiated to decidual phenotype, PROK1 mRNA was up-regulated and PR and HOXA10 mRNA were down-regulated to the same extent. (PMID:20400074)
- Data show that expression of PK1 and PKR1 was detected in primary MM cells and myeloma cell lines. (PMID:20795791)
- CTGF expression in early pregnancy decidua is regulated by PROK1, via activation of the Gq, PLC, cSrc, EGFR, MAPK/ERK kinase pathway and has a role in cell adhesion. (PMID:21098624)
- Prok1 is significantly increased in ppapillary thyroid cancer, and its expression in PTC is related to BRAF mutation. (PMID:21385081)
- identified a novel signalling pathway whereby PROK1 can induce the expression of DKK1 in the human endometrium and first trimester decidua. (PMID:21546446)
- Findings, together with the detection of sequence variants in PROKR1, PROK1 and PROKR2 genes associated to HSCR and, in some cases in combination with RET or GDNF mutations, provide evidence to consider them as susceptibility genes for HSCR. (PMID:21858136)
- Data show that decidualization was associated with increased expression of 428 genes including SCARA5 (181-fold), DKK1 (71-fold) and PROK1 (32-fold), and decreased expression of 230 genes including MMP-7 (35-fold) and SFRP4 (21-fold). (PMID:21858178)
- The data shows that much more PK1 in healthy pregnant women is produced than those suffering from preeclampsia. (PMID:21876489)
- During the first trimester of pregnancy, hCG and EG-VEGF exhibit the same pattern of expression, suggesting that EG-VEGF is potentially regulated by hCG. (PMID:22138749)
- EG-VEGF as a new placental growth factor acting during the first trimester of pregnancy, established its mechanism of action, and provide evidence for its deregulation in FGR. (PMID:22941044)
- Defective placental maturation is associated with an imbalance of expression of basic fibroblast growth factor (FGF) and PK1. (PMID:23891065)
- preliminary data suggest a high potential of prokineticin 1 in the success of implantation and pregnancy (PMID:23972922)
- number of blood vessels in PROK1-positive primary gastrointestinal lesions was higher than that in PROK1-negative primary lesions. CONCLUSION: PROK1 expression might be related to the extent of malignancy in gastrointestinal cancer (PMID:24324064)
- EG-VEGF and VEGFA systems shared several canonical signaling pathways that may contribute to gene-gene interactions, including the Akt, IL-8, EGFR, MAPK, SRC, VHL, HIF-1A and STAT3. (PMID:24671265)
- More importantly this paper argues for EG-VEGF clinical relevance as a potential biomarker of the onset of pregnancy pathologies and discusses its potential usefulness for future therapeutic directions. (PMID:24955357)
- Study corroborates the clinical relevance of the EG-VEGF system in human early pregnancy, and provides evidence for the gene-gene interactions of EG-VEGF and PROKR variants. (PMID:25064403)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | prok1 | ENSDARG00000073948 |
| mus_musculus | Prok1 | ENSMUSG00000070368 |
| rattus_norvegicus | Prok1 | ENSRNOG00000079989 |
Paralogs (1): PROK2 (ENSG00000163421)
Protein
Protein identifiers
Prokineticin-1 — P58294 (reviewed: P58294)
Alternative names: Endocrine-gland-derived vascular endothelial growth factor, Mambakine
All UniProt accessions (1): P58294
UniProt curated annotations — full annotation on UniProt →
Function. Potently contracts gastrointestinal (GI) smooth muscle. Induces proliferation, migration and fenestration (the formation of membrane discontinuities) in capillary endothelial cells derived from endocrine glands. Has little or no effect on a variety of other endothelial and non-endothelial cell types. Induces proliferation and differentiation, but not migration, of enteric neural crest cells. Directly influences neuroblastoma progression by promoting the proliferation and migration of neuroblastoma cells. Positively regulates PTGS2 expression and prostaglandin synthesis. May play a role in placentation. May play a role in normal and pathological testis angiogenesis.
Subcellular location. Secreted.
Tissue specificity. Localizes to glandular epithelium, stroma and vascular epithelial cells of first trimester decidua (at protein level). Up-regulated in first trimester decidua when compared with non-pregnant endometrium. Expressed in the steroidogenic glands, ovary, testis, adrenal and placenta.
Similarity. Belongs to the AVIT (prokineticin) family.
RefSeq proteins (1): NP_115790* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009523 | Prokineticin | Family |
| IPR023569 | Prokineticin_domain | Domain |
Pfam: PF06607
UniProt features (8 total): disulfide bond 5, signal peptide 1, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P58294-F1 | 89.70 | 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): 26–38, 32–50, 37–78, 60–86, 80–96
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-375276 | Peptide ligand-binding receptors |
| R-HSA-416476 | G alpha (q) signalling events |
MSigDB gene sets: 57 (showing top):
NKX25_02, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, GOMF_GROWTH_FACTOR_ACTIVITY, REACTOME_PEPTIDE_LIGAND_BINDING_RECEPTORS, GOBP_POSITIVE_REGULATION_OF_CELL_DIVISION, GOBP_BLOOD_VESSEL_MORPHOGENESIS, GOBP_REGULATION_OF_CELL_DIVISION, WINTER_HYPOXIA_METAGENE, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_EPITHELIAL_CELL_PROLIFERATION, GOMF_SIGNALING_RECEPTOR_BINDING, GOBP_CIRCULATORY_SYSTEM_DEVELOPMENT, GOBP_REGULATION_OF_VASCULATURE_DEVELOPMENT, GOBP_CELL_DIVISION, STAT5A_01
GO Biological Process (9): angiogenesis (GO:0001525), endothelial cell proliferation (GO:0001935), positive regulation of MAPK cascade (GO:0043410), regulation of angiogenesis (GO:0045765), positive regulation of cell division (GO:0051781), vascular endothelial cell proliferation (GO:0101023), positive regulation of vascular endothelial cell proliferation (GO:1905564), signal transduction (GO:0007165), cell population proliferation (GO:0008283)
GO Molecular Function (1): growth factor activity (GO:0008083)
GO Cellular Component (1): extracellular region (GO:0005576)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Class A/1 (Rhodopsin-like receptors) | 1 |
| GPCR downstream signalling | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular process | 2 |
| blood vessel morphogenesis | 1 |
| anatomical structure formation involved in morphogenesis | 1 |
| epithelial cell proliferation | 1 |
| MAPK cascade | 1 |
| regulation of MAPK cascade | 1 |
| positive regulation of intracellular signal transduction | 1 |
| angiogenesis | 1 |
| regulation of anatomical structure morphogenesis | 1 |
| regulation of vasculature development | 1 |
| positive regulation of cellular process | 1 |
| cell division | 1 |
| regulation of cell division | 1 |
| endothelial cell proliferation | 1 |
| positive regulation of endothelial cell proliferation | 1 |
| vascular endothelial cell proliferation | 1 |
| regulation of vascular endothelial cell proliferation | 1 |
| cell communication | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| receptor ligand activity | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
626 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PROK1 | PROKR1 | Q8TCW9 | 998 |
| PROK1 | PROKR2 | Q8NFJ6 | 994 |
| PROK1 | CLPS | P04118 | 769 |
| PROK1 | ADCY3 | O60266 | 765 |
| PROK1 | ALDH18A1 | P54886 | 711 |
| PROK1 | GPR83 | Q9NYM4 | 698 |
| PROK1 | ANOS1 | P23352 | 677 |
| PROK1 | ADCY8 | P40145 | 648 |
| PROK1 | GNRH1 | P01148 | 597 |
| PROK1 | EIF2AK2 | P19525 | 547 |
| PROK1 | PSPN | O60542 | 507 |
| PROK1 | MRAP2 | Q96G30 | 464 |
| PROK1 | NPY | P01303 | 446 |
| PROK1 | MAPK3 | P27361 | 435 |
| PROK1 | PRKAR2A | P13861 | 423 |
| PROK1 | IGFBP1 | P08833 | 423 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PROK1 | IDE | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (4): IDE (Affinity Capture-MS), TRIM11 (Affinity Capture-MS), CLCF1 (Affinity Capture-MS), GOPC (Affinity Capture-MS)
ESM2 similar proteins: A0A8K1YTU0, A2RUU4, B3EWT5, B6DCW1, B6DCW2, B6DCW4, B6DCW5, B6DCW6, B6DCW7, B6DCW8, B6DCX0, B6DCZ2, B6DCZ8, B6DD06, B6DD07, B6DD08, B6DD09, B6DD10, B6DD11, B6DD12, C8CK75, D2DGD9, D3ZVN1, P0CI88, P0CY68, P0CY69, P0DQE7, P0DRJ1, P25687, P58294, Q14A28, Q2XXR7, Q2XXR8, Q30KJ4, Q5Y4V9, Q6IV20, Q6UDR6, Q75WG5, Q7Z096, Q7Z5A9
Diamond homologs: P25687, P58294, P84909, Q14A28, Q2XXR7, Q2XXR8, Q5W280, Q863H5, Q8JFE6, Q8JFQ0, Q8JFX8, Q8JFX9, Q8JFY0, Q8JFY1, Q8JFY2, Q8R413, Q8R414, Q9HC23, Q9PW66, Q9QXU7, D2Y2C0, D2Y2E0, D2Y2E1, D2Y2E2, D2Y2E3, D2Y2E4, D2Y2E5, D2Y2E6, Q56R10, D2Y2E7, O94907, P42890, O54908
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PROK1 | up-regulates | PROKR1 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
21 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 18 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
187 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:110453956:TACA:T | acceptor_loss | 1.0000 |
| 1:110453958:CAGG:C | acceptor_loss | 1.0000 |
| 1:110453959:A:AG | acceptor_gain | 1.0000 |
| 1:110453959:AG:A | acceptor_gain | 1.0000 |
| 1:110453960:G:A | acceptor_loss | 1.0000 |
| 1:110453960:G:GA | acceptor_gain | 1.0000 |
| 1:110453960:GG:G | acceptor_gain | 1.0000 |
| 1:110453960:GGC:G | acceptor_gain | 1.0000 |
| 1:110453960:GGCCT:G | acceptor_gain | 1.0000 |
| 1:110454083:CAAG:C | donor_loss | 1.0000 |
| 1:110454084:AAG:A | donor_loss | 1.0000 |
| 1:110454086:GGTA:G | donor_loss | 1.0000 |
| 1:110454088:T:G | donor_loss | 1.0000 |
| 1:110451284:CAGGG:C | donor_gain | 0.9900 |
| 1:110451285:AGGG:A | donor_gain | 0.9900 |
| 1:110451286:GGG:G | donor_gain | 0.9900 |
| 1:110451286:GGGG:G | donor_gain | 0.9900 |
| 1:110451287:GG:G | donor_gain | 0.9900 |
| 1:110451287:GGG:G | donor_gain | 0.9900 |
| 1:110451288:GG:G | donor_gain | 0.9900 |
| 1:110451288:GGT:G | donor_loss | 0.9900 |
| 1:110451289:G:GG | donor_gain | 0.9900 |
| 1:110451289:GT:G | donor_loss | 0.9900 |
| 1:110451290:T:G | donor_loss | 0.9900 |
| 1:110453957:ACAG:A | acceptor_gain | 0.9900 |
| 1:110453958:C:G | acceptor_gain | 0.9900 |
| 1:110453960:GGCC:G | acceptor_gain | 0.9900 |
| 1:110456227:CTTA:C | acceptor_loss | 0.9900 |
| 1:110456228:TTA:T | acceptor_loss | 0.9900 |
| 1:110456229:TAGGT:T | acceptor_loss | 0.9900 |
AlphaMissense
680 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:110454009:A:C | S41R | 0.985 |
| 1:110454011:C:A | S41R | 0.985 |
| 1:110454011:C:G | S41R | 0.985 |
| 1:110453982:T:A | C32S | 0.965 |
| 1:110453983:G:C | C32S | 0.965 |
| 1:110454066:T:A | C60S | 0.962 |
| 1:110454067:G:C | C60S | 0.962 |
| 1:110454036:T:A | C50S | 0.957 |
| 1:110454037:G:C | C50S | 0.957 |
| 1:110454000:T:A | C38S | 0.956 |
| 1:110454001:G:C | C38S | 0.956 |
| 1:110454017:G:C | W43C | 0.956 |
| 1:110454017:G:T | W43C | 0.956 |
| 1:110454001:G:A | C38Y | 0.955 |
| 1:110454002:T:G | C38W | 0.954 |
| 1:110456319:T:A | C96S | 0.952 |
| 1:110456320:G:C | C96S | 0.952 |
| 1:110453965:G:A | C26Y | 0.950 |
| 1:110453973:G:C | D29H | 0.947 |
| 1:110456250:C:A | R73S | 0.947 |
| 1:110456289:T:A | C86S | 0.945 |
| 1:110456290:G:C | C86S | 0.945 |
| 1:110454038:C:G | C50W | 0.943 |
| 1:110453964:T:A | C26S | 0.942 |
| 1:110453965:G:C | C26S | 0.942 |
| 1:110454066:T:C | C60R | 0.940 |
| 1:110456273:C:G | C80W | 0.939 |
| 1:110456321:C:G | C96W | 0.939 |
| 1:110456265:T:C | C78R | 0.938 |
| 1:110456267:T:G | C78W | 0.936 |
dbSNP variants (sampled 300 via entrez): RS1000625013 (1:110449188 T>C), RS1001226576 (1:110449893 A>G), RS1001474304 (1:110456714 T>C), RS1002030640 (1:110450799 T>C), RS1002080703 (1:110454864 G>A), RS1002633587 (1:110452032 G>A), RS1003010829 (1:110451692 T>C), RS1003759933 (1:110456383 C>T), RS1004048845 (1:110453723 C>T), RS1004153707 (1:110456107 T>C), RS1004739372 (1:110451650 T>C), RS1005680191 (1:110452712 C>T), RS1006119582 (1:110457249 G>T), RS1006713980 (1:110454671 G>A), RS1006736232 (1:110451525 G>A)
Disease associations
OMIM: gene MIM:606233 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003800_3 | Response to bupropion in depression | 5.000000e-07 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
15 total (human), top 15 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Progesterone | increases expression, affects response to substance | 2 |
| 2,4,7-trimethyldibenzothiophene | increases expression | 1 |
| testosterone enanthate | affects cotreatment, decreases expression | 1 |
| dibenzothiophene | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | increases expression | 1 |
| cetrorelix | decreases expression, affects cotreatment | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| entinostat | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Cyclic AMP | affects response to substance | 1 |
| Benzo(a)pyrene | increases methylation, affects methylation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Triclosan | increases expression | 1 |
| Valproic Acid | affects expression | 1 |
| Desogestrel | affects cotreatment, decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.