SERPINA4
gene geneOn this page
Also known as KSTKALKLST
Summary
SERPINA4 (serpin family A member 4, HGNC:8948) is a protein-coding gene on chromosome 14q32.13, encoding Kallistatin (P29622). Inhibits human amidolytic and kininogenase activities of tissue kallikrein.
Predicted to enable serine-type endopeptidase inhibitor activity. Located in extracellular exosome. Biomarker of diabetic retinopathy.
Source: NCBI Gene 5267 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 91 total
- MANE Select transcript:
NM_006215
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:8948 |
| Approved symbol | SERPINA4 |
| Name | serpin family A member 4 |
| Location | 14q32.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KST, KAL, KLST |
| Ensembl gene | ENSG00000100665 |
| Ensembl biotype | protein_coding |
| OMIM | 147935 |
| Entrez | 5267 |
Gene structure
Transcript identifiers
Ensembl transcripts: 26 — 26 protein_coding
ENST00000298841, ENST00000555095, ENST00000557004, ENST00000871740, ENST00000871741, ENST00000871742, ENST00000871743, ENST00000871744, ENST00000871745, ENST00000871746, ENST00000871747, ENST00000871748, ENST00000871749, ENST00000871750, ENST00000871751, ENST00000871752, ENST00000871753, ENST00000871754, ENST00000871755, ENST00000871756, ENST00000871757, ENST00000871758, ENST00000871759, ENST00000871760, ENST00000871761, ENST00000871762
RefSeq mRNA: 3 — MANE Select: NM_006215
NM_001289032, NM_001289033, NM_006215
CCDS: CCDS9927
Canonical transcript exons
ENST00000557004 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001098009 | 94566970 | 94567243 |
| ENSE00001098015 | 94563466 | 94564131 |
| ENSE00001098017 | 94568129 | 94568288 |
| ENSE00002440322 | 94561442 | 94561494 |
| ENSE00002444199 | 94569395 | 94569906 |
Expression profiles
Bgee: expression breadth broad, 72 present calls, max score 98.20.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0206 / max 7.2163, expressed in 10 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 141245 | 1.0515 | 53 |
| 141244 | 0.3262 | 34 |
| 141246 | 0.0206 | 10 |
Top tissues by expression
266 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 98.20 | gold quality |
| body of pancreas | UBERON:0001150 | 97.13 | gold quality |
| liver | UBERON:0002107 | 96.96 | gold quality |
| gall bladder | UBERON:0002110 | 95.17 | gold quality |
| pancreas | UBERON:0001264 | 90.98 | gold quality |
| islet of Langerhans | UBERON:0000006 | 85.53 | gold quality |
| corpus epididymis | UBERON:0004359 | 81.87 | gold quality |
| caput epididymis | UBERON:0004358 | 77.08 | gold quality |
| body of stomach | UBERON:0001161 | 75.35 | gold quality |
| stomach | UBERON:0000945 | 74.48 | gold quality |
| seminal vesicle | UBERON:0000998 | 71.45 | silver quality |
| cauda epididymis | UBERON:0004360 | 70.71 | silver quality |
| tibialis anterior | UBERON:0001385 | 67.74 | silver quality |
| adult mammalian kidney | UBERON:0000082 | 67.69 | gold quality |
| pancreatic ductal cell | CL:0002079 | 64.79 | silver quality |
| fundus of stomach | UBERON:0001160 | 64.58 | gold quality |
| ileal mucosa | UBERON:0000331 | 63.75 | silver quality |
| deltoid | UBERON:0001476 | 58.95 | silver quality |
| kidney | UBERON:0002113 | 58.94 | gold quality |
| duodenum | UBERON:0002114 | 56.77 | gold quality |
| skin of hip | UBERON:0001554 | 56.16 | silver quality |
| cardia of stomach | UBERON:0001162 | 54.75 | gold quality |
| parotid gland | UBERON:0001831 | 53.50 | gold quality |
| oocyte | CL:0000023 | 53.36 | gold quality |
| pylorus | UBERON:0001166 | 53.25 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 52.74 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 52.03 | gold quality |
| adrenal tissue | UBERON:0018303 | 51.65 | gold quality |
| cortex of kidney | UBERON:0001225 | 51.49 | gold quality |
| metanephros cortex | UBERON:0010533 | 51.13 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.16 |
| E-HCAD-9 | yes | 8.09 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): FOXO1
miRNA regulators (miRDB)
6 targeting SERPINA4, 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-3065-3P | 99.87 | 70.25 | 1407 |
| HSA-MIR-520A-5P | 99.35 | 66.72 | 1632 |
| HSA-MIR-525-5P | 99.35 | 66.85 | 1615 |
| HSA-MIR-660-3P | 98.14 | 66.04 | 1434 |
| HSA-MIR-6849-3P | 97.25 | 64.57 | 1371 |
| HSA-MIR-3690 | 96.44 | 65.18 | 737 |
Literature-anchored findings (GeneRIF, showing 39)
- Delivery of human kallistatin cDNA to ischemic rat hindlimb and breast tumor xenografts showed that Kallistatin is a new inhibitor of angiogenesis and tumor growth. (PMID:12384424)
- Results indicate that the heparin-binding domain, but not the reactive site loop of kallistatin, is essential for inhibiting vascular endothelial growth factor-induced angiogenesis. (PMID:12734113)
- KBP reduces expression of VEGF and HIF-1alpha nuclear translocation (PMID:17714861)
- Adeno-associated virus-mediated expression of KAL inhibits the growth of colon cancer by reducing angiogenesis and proliferation of tumor cells. (PMID:17729417)
- Kruppel-like factor 4 is a novel mediator of Kallistatin in inhibiting endothelial inflammation via increased endothelial nitric-oxide synthase expression. (PMID:19858207)
- Systemic administration of lentiviral vectors encoding kallistatin inhibited the growth of metastatic lung tumors and prolonged the survival of tumor-bearing mice. (PMID:20509975)
- Genotyping reveals two single nucleotide polymorphisms in the BCL2 gene and a single nucleotide polymorphism in the SERPINA4 gene associated with a decreased risk of developing acute kidney injury. (PMID:22710204)
- As a potent antioxidant and anti-inflammation agent, kallistatin may also hold therapeutic promise in cardiometabolic disorders. (PMID:23190873)
- Plasma kallistatin is a novel marker for severe community-acquired pneumonia prognosis. (PMID:23394256)
- A novel role of kallistatin in preventing breast tumor growth and mobility by direct interaction with LRP6. (PMID:23666756)
- these findings added the knowledge for us to understand the anti-angiogenic mechanism of kallistatin, which suggested that the rhKal could be worth as a candidate compound for further development for the purpose of anti-angiogenic therapies (PMID:24129914)
- decreased SPTBN1 and kallistatin gene expression associated with decreased relapse-free survival in hepatocellular carcinoma (PMID:25307947)
- Kallistatin protects against renal ischemia-reperfusion injury by blocking oxidative stress and renal inflammation. (PMID:25654330)
- Increased kallistatin levels in type 1 diabetes and its relation with carotid intima media thickness may reflect vascular dysfunction and suggest a link between micro- and macro-angiopathy. (PMID:26091968)
- Kallistatin’s heparin-binding site is crucial for preventing TGF-beta-induced miR-21 and oxidative stress, while its active site is key for stimulating the expression of eNOS. (PMID:26156753)
- crystal structure of kallistatin 1.9 A resolution (PMID:26323298)
- reveal novel mechanisms of kallistatin in inducing apoptosis and autophagy in breast cancer cells (PMID:26790955)
- generated a meta-marker model made up of SERPINA4 and PON1 that is useful as a differential diagnostic biomarker differentiating lung cancer from other lung diseases. (PMID:27168012)
- Kallistatin levels were correlated with some markers of systemic inflammation in the HIV population. (PMID:27326658)
- SNPs rs2093266 in the SERPINA4 is associated with the development of severe acute kidney injury (KDIGO stage 2-3) in critically ill patients with septic shock (PMID:28270177)
- Kallistatin levels may provide useful information regarding cardiovascular risk in women with polycystic ovary syndrome (PMID:28294594)
- data suggest that overexpression of kallistatin interferes with lymphopoiesis, ultimately impacting the level of circulating CD19(+) B lymphocytes. (PMID:28299632)
- These findings suggested that kallistatin may be a promising agent that could be used to suppress cancer metastasis by inhibiting both angiogenesis and lymphangiogenesis. (PMID:28440474)
- Our results indicate that during severe sepsis and septic shock, a decrease in plasma concentrations of kallistatin reflects increased severity and poorer outcome of disease. (PMID:28542440)
- The kallistatin’s dual roles in angiogenesis, apoptosis and oxidative stress contribute to its beneficial effects in various diseases. (PMID:28742513)
- These findings reveal novel mechanisms of kallistatin in protection against senescence, aging, and cancer development by modulating miR-34a and miR-21 levels and inhibiting oxidative stress. (PMID:28744338)
- Kallistatin functions as an endogenous lymphangiogenesis inhibitor and has an important part in the lymphatic metastasis of gastric cancer.Kallistatin was reduced in the cancer tissue and plasma of gastric cancer patients. (PMID:29243194)
- oxidative stress induces down- or upregulation of kallistatin expression, depending on oxygen concentration, and kallistatin plays a novel role in mediating oxygen/exercise-induced HIF-1-eNOS-NO pathway. (PMID:29387292)
- These findings provide, for the first time, evidence of a novel role of kallistatin in obesity and its associated comorbidities by limiting adipose tissue inflammation and oxidative stress (PMID:29679615)
- patients with less severe excretory pancreatic insufficiency and lipid profile disorders had higher kallistatin level than the control group (PMID:29729163)
- Low expression of kallistatin was associated with unfavourable prognosis and platinum resistance in high-grade serous (HGSOC). Overexpression of kallistatin significantly inhibited proliferation and metastasis, and enhanced platinum sensitivity and apoptosis in ovarian cancer cells. These findings demonstrate that kallistatin serves as a prognostic predictor and provide a potential therapeutic target for HGSOC (PMID:31884974)
- Role of kallistatin in pediatric patients with pulmonary arterial hypertension. (PMID:32558414)
- Clinical Significance of Serum Kallistatin and ENOX1 Levels in Patients with Coronary Heart Disease. (PMID:32712615)
- Serum kallistatin level is decreased in women with preeclampsia. (PMID:32866127)
- Kallistatin in follicular fluid of women with endometriosis and its correlation with IVF outcome. (PMID:34236276)
- Kallistatin limits abdominal aortic aneurysm by attenuating generation of reactive oxygen species and apoptosis. (PMID:34465809)
- Plasma E-selectin and kallistatin as predictive markers of histologic chorioamnionitis in women with preterm premature rupture of membranes. (PMID:35772987)
- [Relationship of the kallistatin gene expression with male spermatogenic dysfunction and its possible mechanism]. (PMID:37846113)
- Kallistatin deficiency exacerbates neuronal damage after cardiac arrest. (PMID:38383562)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | serpina1 | ENSDARG00000090286 |
| danio_rerio | serpina1l | ENSDARG00000090850 |
| rattus_norvegicus | Serpina4 | ENSRNOG00000009788 |
Paralogs (36): SERPINB1 (ENSG00000021355), SERPINB3 (ENSG00000057149), SERPIND1 (ENSG00000099937), 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), SERPINB13 (ENSG00000197641), SERPINB11 (ENSG00000206072), SERPINB4 (ENSG00000206073), SERPINB5 (ENSG00000206075), HMSD (ENSG00000221887), SERPINB10 (ENSG00000242550), SERPINE3 (ENSG00000253309), SERPINA2 (ENSG00000258597)
Protein
Protein identifiers
Kallistatin — P29622 (reviewed: P29622)
Alternative names: Kallikrein inhibitor, Peptidase inhibitor 4, Serpin A4
All UniProt accessions (2): P29622, A0A024R6I9
UniProt curated annotations — full annotation on UniProt →
Function. Inhibits human amidolytic and kininogenase activities of tissue kallikrein. Inhibition is achieved by formation of an equimolar, heat- and SDS-stable complex between the inhibitor and the enzyme, and generation of a small C-terminal fragment of the inhibitor due to cleavage at the reactive site by tissue kallikrein.
Subunit / interactions. Monomer and some homodimers.
Subcellular location. Secreted.
Tissue specificity. Expressed by the liver and secreted in plasma.
Post-translational modifications. The N-terminus is blocked.
Miscellaneous. Heparin blocks kallistatin’s complex formation with tissue kallikrein and abolishes its inhibitory effect on tissue kallikrein’s activity.
Similarity. Belongs to the serpin family.
RefSeq proteins (3): NP_001275961, NP_001275962, NP_006206* (*=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 (46 total): strand 19, helix 12, turn 7, glycosylation site 4, signal peptide 1, chain 1, site 1, sequence conflict 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6F4V | X-RAY DIFFRACTION | 1.8 |
| 6F4U | X-RAY DIFFRACTION | 1.9 |
| 6F02 | X-RAY DIFFRACTION | 3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P29622-F1 | 87.30 | 0.80 |
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): 388–389 (reactive bond)
Glycosylation sites (4): 33, 108, 157, 238
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-114608 | Platelet degranulation |
| R-HSA-9925561 | Developmental Lineage of Pancreatic Acinar Cells |
| R-HSA-109582 | Hemostasis |
| R-HSA-1266738 | Developmental Biology |
| R-HSA-76002 | Platelet activation, signaling and aggregation |
| R-HSA-76005 | Response to elevated platelet cytosolic Ca2+ |
| R-HSA-9734767 | Developmental Cell Lineages |
MSigDB gene sets: 106 (showing top):
MORF_ITGA2, MORF_MSH3, GNF2_GSTM1, GOCC_SECRETORY_GRANULE, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, GNF2_HPN, MORF_BRCA1, HNF1_Q6, MORF_RAD51L3, MODULE_379, MORF_CTSB, BLALOCK_ALZHEIMERS_DISEASE_UP, GNF2_LCAT, MORF_IL4, MORF_PRKCA
GO Biological Process (0):
GO Molecular Function (3): serine-type endopeptidase inhibitor activity (GO:0004867), protein binding (GO:0005515), peptidase inhibitor activity (GO:0030414)
GO Cellular Component (4): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), platelet dense granule lumen (GO:0031089), extracellular exosome (GO:0070062)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Response to elevated platelet cytosolic Ca2+ | 1 |
| Developmental Cell Lineages of the Exocrine Pancreas | 1 |
| Hemostasis | 1 |
| Platelet activation, signaling and aggregation | 1 |
| Developmental Biology | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| serine-type endopeptidase activity | 1 |
| endopeptidase inhibitor activity | 1 |
| binding | 1 |
| enzyme inhibitor activity | 1 |
| peptidase activity | 1 |
| peptidase regulator activity | 1 |
| cellular anatomical structure | 1 |
| secretory granule lumen | 1 |
| platelet dense granule | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
1126 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SERPINA4 | KLK1 | P06870 | 997 |
| SERPINA4 | KLK2 | P20151 | 997 |
| SERPINA4 | PI3 | P19957 | 864 |
| SERPINA4 | KLK4 | Q9Y5K2 | 847 |
| SERPINA4 | LRP6 | O75581 | 777 |
| SERPINA4 | AZU1 | P20160 | 709 |
| SERPINA4 | OSBP | P22059 | 686 |
| SERPINA4 | PI4KB | P78405 | 641 |
| SERPINA4 | CLINT1 | Q14677 | 575 |
| SERPINA4 | CERT1 | Q9Y5P4 | 532 |
| SERPINA4 | PLG | P00747 | 512 |
| SERPINA4 | PLEKHA3 | Q9HB20 | 507 |
| SERPINA4 | CTRB2 | Q6GPI1 | 488 |
| SERPINA4 | CTRB1 | P17538 | 487 |
| SERPINA4 | PI4KA | P42356 | 484 |
IntAct
19 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CTBP1 | CBX4 | psi-mi:“MI:0914”(association) | 0.700 |
| SERPINA4 | FKBP14 | psi-mi:“MI:0915”(physical association) | 0.690 |
| SERPINA4 | CANX | psi-mi:“MI:0915”(physical association) | 0.560 |
| PDPK1 | HSPA8 | psi-mi:“MI:0914”(association) | 0.530 |
| CFTR | SERPINA4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SERPINA4 | YAE1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SERPINA4 | GADD45G | psi-mi:“MI:0915”(physical association) | 0.370 |
| SERPINA4 | ILK | psi-mi:“MI:0915”(physical association) | 0.370 |
| TAB1 | SERPINA4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SERPINA4 | MAP4K2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MAPK6 | SERPINA4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| NR4A1 | SERPINA4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RASA1 | SERPINA4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SERPINA4 | TNFRSF14 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SERPINA4 | TNNT1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PDPK1 | HSPA8 | psi-mi:“MI:0914”(association) | 0.350 |
| SERPINA4 | SERPINA1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (22): SERPINA4 (Affinity Capture-MS), FKBP14 (Affinity Capture-MS), FDFT1 (Affinity Capture-MS), SERPINA4 (Affinity Capture-MS), FKBP14 (Affinity Capture-MS), SERPINA4 (Reconstituted Complex), SERPINA4 (Affinity Capture-MS), SERPINA4 (Affinity Capture-MS), FKBP14 (Affinity Capture-MS), CANX (Affinity Capture-MS), SERPINA4 (PCA), SERPINA4 (Two-hybrid), SERPINA4 (Two-hybrid), SERPINA4 (Two-hybrid), SERPINA4 (Two-hybrid)
ESM2 similar proteins: A2I7M9, A2I7N0, A2I7N1, A2I7N2, A2I7N3, A6QPQ2, B2D1U1, E1BF81, O54762, P01011, P05154, P05544, P05545, P07759, P08185, P09006, P22323, P22324, P22325, P22599, P26595, P29621, P29622, P31211, P50451, P70458, Q00896, Q00897, Q00898, Q03044, Q03734, Q3ZEJ6, Q5I2A0, Q5R536, Q5R9E3, Q5RCR2, Q60396, Q63556, Q63969, Q64118
Diamond homologs: A2I7M9, A2I7N0, A2I7N1, A2I7N2, A2I7N3, A6QPQ2, B2D1U1, E1BF81, O00394, O54757, O54758, O54759, O54760, O54761, O54762, O54763, O75830, P01009, P01010, P01011, P05154, P05543, P05544, P05545, P05619, P07758, P07759, P08185, P09005, P09006, P12725, P17475, P20848, P22323, P22324, P22325, P22599, P23035, P23775, P26595
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
91 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 80 |
| Likely benign | 7 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
921 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:94569394:GA:G | acceptor_gain | 1.0000 |
| 14:94561495:G:GG | donor_gain | 0.9900 |
| 14:94566969:GCCCT:G | acceptor_gain | 0.9900 |
| 14:94569391:CCA:C | acceptor_loss | 0.9900 |
| 14:94569392:CAGAG:C | acceptor_gain | 0.9900 |
| 14:94569393:A:AG | acceptor_gain | 0.9900 |
| 14:94569393:AGAG:A | acceptor_gain | 0.9900 |
| 14:94569394:G:GG | acceptor_gain | 0.9900 |
| 14:94569394:GAGT:G | acceptor_gain | 0.9900 |
| 14:94569394:GAGTT:G | acceptor_gain | 0.9900 |
| 14:94569526:G:GA | donor_gain | 0.9900 |
| 14:94569568:C:T | donor_gain | 0.9900 |
| 14:94569628:G:GT | donor_gain | 0.9900 |
| 14:94569631:G:GT | donor_gain | 0.9900 |
| 14:94569642:G:T | donor_gain | 0.9900 |
| 14:94561492:GCC:G | donor_gain | 0.9800 |
| 14:94564114:A:G | donor_gain | 0.9800 |
| 14:94566968:A:AG | acceptor_gain | 0.9800 |
| 14:94566969:G:GG | acceptor_gain | 0.9800 |
| 14:94567221:T:TA | donor_gain | 0.9800 |
| 14:94567222:G:GA | donor_gain | 0.9800 |
| 14:94569530:A:AG | donor_gain | 0.9800 |
| 14:94561490:GTGCC:G | donor_gain | 0.9700 |
| 14:94564076:C:A | donor_gain | 0.9700 |
| 14:94564092:G:GT | donor_gain | 0.9700 |
| 14:94564127:CAAAG:C | donor_loss | 0.9700 |
| 14:94564128:AAAGG:A | donor_loss | 0.9700 |
| 14:94564129:AAG:A | donor_loss | 0.9700 |
| 14:94564130:AGGTG:A | donor_loss | 0.9700 |
| 14:94564131:GGTGA:G | donor_loss | 0.9700 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000254353 (14:94562098 C>T), RS1000697150 (14:94567027 A>T), RS1000765407 (14:94567545 C>T), RS1000767838 (14:94568137 A>G,T), RS1001565343 (14:94561296 T>C), RS1001625342 (14:94566902 T>C), RS1001659712 (14:94562268 G>A), RS1001851456 (14:94560709 G>A), RS1002394056 (14:94560984 C>T), RS1002627287 (14:94565759 G>A), RS1002730313 (14:94570263 C>T), RS1002750114 (14:94564954 A>G), RS1002806936 (14:94560451 G>A,C,T), RS1003413315 (14:94569807 G>C), RS1003596442 (14:94564546 G>T)
Disease associations
OMIM: gene MIM:147935 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001642_1 | Vaspin levels | 4.000000e-41 |
| GCST006585_1809 | Blood protein levels | 2.000000e-78 |
| GCST006585_2347 | Blood protein levels | 7.000000e-49 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004915 | vaspin measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression, increases methylation | 5 |
| Cyclosporine | decreases expression | 3 |
| Aflatoxin B1 | affects expression, decreases expression | 3 |
| bisphenol A | affects expression, affects cotreatment, decreases methylation | 2 |
| methyleugenol | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| benazol P | affects expression | 1 |
| Grape Seed Proanthocyanidins | decreases expression, affects cotreatment | 1 |
| bisphenol S | decreases methylation | 1 |
| Rosiglitazone | decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Troglitazone | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Cadmium | affects binding | 1 |
| Catechin | affects cotreatment, decreases expression | 1 |
| Copper | affects binding | 1 |
| Nickel | affects binding | 1 |
| Quercetin | decreases expression | 1 |
| Rifampin | affects cotreatment, decreases expression | 1 |
| Tetrachlorodibenzodioxin | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Zinc | affects binding | 1 |
| Okadaic Acid | decreases expression | 1 |
| beta-Naphthoflavone | decreases expression | 1 |
| Copper Sulfate | 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.