PF4V1
gene geneOn this page
Also known as SCYB4V1CXCL4V1CXCL4L1
Summary
PF4V1 (platelet factor 4 variant 1, HGNC:8862) is a protein-coding gene on chromosome 4q13.3, encoding Platelet factor 4 variant (P10720). Inhibitor of angiogenesis.
The protein encoded by this gene is a chemokine that is highly similar to platelet factor 4. The encoded protein displays a strong antiangiogenic function and is regulated by chemokine (C-X-C motif) receptor 3. This protein also impairs tumor growth and can protect against blood-retinal barrier breakdown in diabetes patients.
Source: NCBI Gene 5197 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 26 total
- MANE Select transcript:
NM_002620
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:8862 |
| Approved symbol | PF4V1 |
| Name | platelet factor 4 variant 1 |
| Location | 4q13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SCYB4V1, CXCL4V1, CXCL4L1 |
| Ensembl gene | ENSG00000109272 |
| Ensembl biotype | protein_coding |
| OMIM | 173461 |
| Entrez | 5197 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000226524
RefSeq mRNA: 1 — MANE Select: NM_002620
NM_002620
CCDS: CCDS3561
Canonical transcript exons
ENST00000226524 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000721941 | 73853296 | 73853462 |
| ENSE00001077827 | 73854035 | 73854483 |
| ENSE00002462427 | 73853783 | 73853909 |
Expression profiles
Bgee: expression breadth ubiquitous, 117 present calls, max score 96.31.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.1402 / max 527.0811, expressed in 116 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 48225 | 2.1402 | 116 |
Top tissues by expression
261 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 96.31 | gold quality |
| mononuclear cell | CL:0000842 | 95.83 | gold quality |
| leukocyte | CL:0000738 | 94.42 | gold quality |
| blood | UBERON:0000178 | 78.53 | gold quality |
| granulocyte | CL:0000094 | 73.00 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 68.10 | gold quality |
| bone marrow | UBERON:0002371 | 65.64 | gold quality |
| spleen | UBERON:0002106 | 65.55 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 63.11 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 62.51 | silver quality |
| bone marrow cell | CL:0002092 | 61.80 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 59.16 | gold quality |
| bronchial epithelial cell | CL:0002328 | 57.93 | silver quality |
| epithelium of bronchus | UBERON:0002031 | 57.14 | silver quality |
| decidua | UBERON:0002450 | 56.55 | gold quality |
| bronchus | UBERON:0002185 | 56.53 | silver quality |
| lower lobe of lung | UBERON:0008949 | 55.90 | silver quality |
| metanephros cortex | UBERON:0010533 | 54.06 | gold quality |
| jejunal mucosa | UBERON:0000399 | 53.94 | gold quality |
| duodenum | UBERON:0002114 | 53.22 | gold quality |
| hair follicle | UBERON:0002073 | 52.43 | gold quality |
| metanephros | UBERON:0000081 | 51.71 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 51.04 | gold quality |
| cranial nerve II | UBERON:0000941 | 50.93 | silver quality |
| right lung | UBERON:0002167 | 50.57 | gold quality |
| cortex of kidney | UBERON:0001225 | 50.45 | gold quality |
| frontal pole | UBERON:0002795 | 50.41 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 50.30 | gold quality |
| quadriceps femoris | UBERON:0001377 | 50.18 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 50.18 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9221 | yes | 19.90 |
| E-HCAD-1 | yes | 8.39 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): RUNX1
miRNA regulators (miRDB)
48 targeting PF4V1, 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-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-369-3P | 99.85 | 70.52 | 2264 |
| HSA-MIR-205-5P | 99.81 | 70.05 | 1557 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-548AG | 99.77 | 69.25 | 1492 |
| HSA-MIR-4517 | 99.76 | 69.19 | 1867 |
| HSA-MIR-6885-3P | 99.75 | 70.36 | 3187 |
Literature-anchored findings (GeneRIF, showing 13)
- The study determines the binding parameters of CXCL4 and CXCL4L1 for heparin, heparan sulfate, and chondroitin sulfate B. (PMID:20688960)
- CXCL4L1 may act angiostatically causing random endothelial cell locomotion, disturbing directed migration towards angiogenic chemokines, serving as a homeostatic chemokine with moderate structural distinction yet different functional profile from CXCL4. (PMID:20961394)
- both CXCR3A and CXCR3B are implicated in the chemotactic and vascular effects of CXCL4L1. (PMID:20980681)
- Current knowledge on the role of CXCL4/PF-4 and CXCL4L1/PF-4var in physiological and pathological processes. (PMID:21111666)
- PF-4var/CXCL4L1 predicts outcome in stable coronary artery disease patients with preserved left ventricular function (PMID:22384011)
- Structural insight into the novel functional properties of human CXCL4L1. (PMID:23536183)
- Fibstatin and CXCL4L1 cooperate to inhibit endothelial cell proliferation, migration and tubulogenesis in vitro. (PMID:23747987)
- fibstatin and CXCL4L1 have cooperative roles in inhibition of tumor invasion in lymph nodes (PMID:23747987)
- CXCL4 and CXCL4L1 activated p38 MAPK, as well as Src kinase within 30 and 5 min, respectively. Extracellular signal-regulated kinase (ERK) phosphorylation occurred in activated lymphocytes. (PMID:24469069)
- CXCL4 and CXCL4L1 shift the angiogenic/angiostatic balance in favor of angiostasis. CXCL4L1 in particular was found to be a more potent angiostatic, anti-tumoral and anti-metastatic chemokine, which was verified in different in vivo models. (PMID:29903575)
- CXCL4L1 promoter variants may protect against the development of renal inflammation in diabetes by increasing CXCL4L1 expression, which in turn activates the anti-inflammatory SMAD7 and IkappaBalpha factors in mesangial cells. (PMID:30593538)
- Differential Effects of Platelet Factor 4 (CXCL4) and Its Non-Allelic Variant (CXCL4L1) on Cultured Human Vascular Smooth Muscle Cells. (PMID:35054772)
- Heterocomplexes between the atypical chemokine MIF and the CXC-motif chemokine CXCL4L1 regulate inflammation and thrombus formation. (PMID:36094626)
Cross-species orthologs
0 orthologs
Paralogs (12): CXCL2 (ENSG00000081041), CXCL6 (ENSG00000124875), CXCL9 (ENSG00000138755), CXCL13 (ENSG00000156234), CXCL3 (ENSG00000163734), CXCL5 (ENSG00000163735), PPBP (ENSG00000163736), PF4 (ENSG00000163737), CXCL1 (ENSG00000163739), CXCL10 (ENSG00000169245), CXCL11 (ENSG00000169248), CXCL8 (ENSG00000169429)
Protein
Protein identifiers
Platelet factor 4 variant — P10720 (reviewed: P10720)
Alternative names: C-X-C motif chemokine 4 variant, CXCL4L1, PF4alt, PF4var1
All UniProt accessions (1): P10720
UniProt curated annotations — full annotation on UniProt →
Function. Inhibitor of angiogenesis. Inhibitor of endothelial cell chemotaxis (in vitro).
Subunit / interactions. Homotetramer.
Subcellular location. Secreted.
Post-translational modifications. The N-terminal processed forms of platelet factor 4 variant seems to be produced by proteolytic cleavage. The most abundant form is Platelet factor 4 variant(5-74).
Miscellaneous. Binding to heparin is much weaker than in the close homolog PF4/CXCL4.
Similarity. Belongs to the intercrine alpha (chemokine CxC) family.
RefSeq proteins (1): NP_002611* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001089 | Chemokine_CXC | Family |
| IPR001811 | Chemokine_IL8-like_dom | Domain |
| IPR018048 | Chemokine_CXC_CS | Conserved_site |
| IPR033899 | CXC_Chemokine_domain | Domain |
| IPR036048 | Interleukin_8-like_sf | Homologous_superfamily |
| IPR039809 | Chemokine_b/g/d | Family |
Pfam: PF00048
UniProt features (17 total): strand 5, chain 4, helix 2, disulfide bond 2, signal peptide 1, turn 1, binding site 1, sequence conflict 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4HSV | X-RAY DIFFRACTION | 2.08 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P10720-F1 | 77.18 | 0.24 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (1): 95–101
Disulfide bonds (2): 44–70, 46–86
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-202733 | Cell surface interactions at the vascular wall |
| R-HSA-9769739 | Regulation of clotting cascade |
| R-HSA-140875 |
MSigDB gene sets: 96 (showing top):
GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CELL_CHEMOTAXIS, GOBP_INFLAMMATORY_RESPONSE, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_LEUKOCYTE_CHEMOTAXIS, chr4q13, GOBP_TAXIS, GOBP_LEUKOCYTE_MIGRATION, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_GRANULOCYTE_MIGRATION, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_HUMORAL_IMMUNE_RESPONSE
GO Biological Process (8): inflammatory response (GO:0006954), neutrophil chemotaxis (GO:0030593), antimicrobial humoral immune response mediated by antimicrobial peptide (GO:0061844), cellular response to lipopolysaccharide (GO:0071222), chemotaxis (GO:0006935), defense response (GO:0006952), immune response (GO:0006955), signal transduction (GO:0007165)
GO Molecular Function (5): chemokine activity (GO:0008009), heparin binding (GO:0008201), CXCR chemokine receptor binding (GO:0045236), cytokine activity (GO:0005125), protein binding (GO:0005515)
GO Cellular Component (2): obsolete extracellular space (GO:0005615), extracellular region (GO:0005576)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Hemostasis | 1 |
| Coagulation pathway | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| chemokine receptor binding | 2 |
| defense response | 1 |
| granulocyte chemotaxis | 1 |
| neutrophil migration | 1 |
| antimicrobial humoral response | 1 |
| response to lipopolysaccharide | 1 |
| cellular response to molecule of bacterial origin | 1 |
| cellular response to lipid | 1 |
| cellular response to oxygen-containing compound | 1 |
| response to chemical | 1 |
| taxis | 1 |
| response to stress | 1 |
| immune system process | 1 |
| response to stimulus | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| cytokine activity | 1 |
| cell chemotaxis | 1 |
| glycosaminoglycan binding | 1 |
| sulfur compound binding | 1 |
| receptor ligand activity | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
940 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PF4V1 | CXCR3 | P49682 | 977 |
| PF4V1 | CCL5 | P13501 | 927 |
| PF4V1 | SELP | P16109 | 890 |
| PF4V1 | VWF | P04275 | 845 |
| PF4V1 | SERPINC1 | P01008 | 803 |
| PF4V1 | FN1 | P02751 | 770 |
| PF4V1 | CXCL10 | P02778 | 751 |
| PF4V1 | CXCL9 | Q07325 | 740 |
| PF4V1 | PLG | P00747 | 730 |
| PF4V1 | CCL1 | P22362 | 707 |
| PF4V1 | FCGR2A | P12318 | 696 |
| PF4V1 | THBS1 | P07996 | 689 |
| PF4V1 | ITGAM | P11215 | 688 |
| PF4V1 | F3 | P13726 | 664 |
| PF4V1 | APOH | P02749 | 654 |
IntAct
28 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PF4V1 | CXCL12 | psi-mi:“MI:0407”(direct interaction) | 0.560 |
| CXCL12 | PF4V1 | psi-mi:“MI:0407”(direct interaction) | 0.560 |
| PF4V1 | CCL19 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PF4V1 | CCL21 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PF4V1 | CCL22 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PF4V1 | CCL25 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PF4V1 | CCL26 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PF4V1 | CCL27 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PF4V1 | CCL28 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PF4V1 | XCL1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PF4V1 | XCL2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CCL4L1 | PF4V1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CCL11 | PF4V1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CCL21 | PF4V1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CCL25 | PF4V1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| XCL1 | PF4V1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CXCL11 | PF4V1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PF4V1 | CXCL10 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PF4V1 | CXCL11 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PF4V1 | CXCL13 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PF4V1 | UBA52 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PF4V1 | H2BC9 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ALB | SH3BP5 | psi-mi:“MI:0914”(association) | 0.350 |
| SCN2A | IGLL5 | psi-mi:“MI:0914”(association) | 0.350 |
| PF4V1 | ATG9A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (27): PF4V1 (Affinity Capture-MS), UBA52 (Proximity Label-MS), HIST1H2BH (Proximity Label-MS), PF4V1 (Reconstituted Complex), PF4V1 (Reconstituted Complex), PF4V1 (Reconstituted Complex), PF4V1 (Reconstituted Complex), PF4V1 (Reconstituted Complex), PF4V1 (Reconstituted Complex), CCL19 (Reconstituted Complex), CCL21 (Reconstituted Complex), CCL22 (Reconstituted Complex), CCL25 (Reconstituted Complex), CCL26 (Reconstituted Complex), CCL27 (Reconstituted Complex)
ESM2 similar proteins: A0A0R4INB9, A9QWP9, B0R191, K7XWG4, O43927, O55038, O62812, P02776, P02778, P06765, P10145, P10146, P10720, P17515, P18340, P19874, P22362, P26894, P36925, P41324, P43030, P46653, P48298, P48973, P49113, P67813, P67814, P78556, P79255, P80325, P82943, P97545, P97884, P97885, Q03366, Q07325, Q09141, Q102R3, Q2KIQ8, Q5KSV9
Diamond homologs: A0A0R4INB9, A9QWP9, B0R191, O46675, O46676, O46677, O46678, O55235, O62812, P02775, P02776, P02778, P06765, P08317, P09340, P09341, P10145, P10720, P10889, P12850, P14095, P17515, P18340, P19874, P19875, P19876, P22952, P26894, P30034, P30348, P30782, P36925, P41324, P42830, P43030, P46653, P47854, P48973, P49113, P50228
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 22 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Chemokine receptors bind chemokines | 13 | 128.1× | 6e-24 |
| Class A/1 (Rhodopsin-like receptors) | 8 | 31.2× | 5e-09 |
| Peptide ligand-binding receptors | 8 | 31.2× | 5e-09 |
| GPCR ligand binding | 8 | 27.0× | 1e-08 |
| G alpha (i) signalling events | 10 | 20.5× | 1e-09 |
| Signaling by GPCR | 9 | 19.0× | 1e-08 |
| GPCR downstream signalling | 7 | 16.0× | 6e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| eosinophil chemotaxis | 7 | 233.1× | 3e-14 |
| chemokine-mediated signaling pathway | 13 | 191.5× | 5e-26 |
| antimicrobial humoral immune response mediated by antimicrobial peptide | 12 | 88.4× | 1e-19 |
| cell chemotaxis | 9 | 75.8× | 5e-14 |
| neutrophil chemotaxis | 5 | 64.9× | 2e-07 |
| chemotaxis | 9 | 55.6× | 7e-13 |
| response to virus | 5 | 32.7× | 6e-06 |
| positive regulation of cell migration | 10 | 28.1× | 2e-11 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
26 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 25 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
220 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:73853460:GAG:G | donor_gain | 1.0000 |
| 4:73853461:AGGT:A | donor_loss | 1.0000 |
| 4:73853463:G:A | donor_loss | 1.0000 |
| 4:73853463:G:GG | donor_gain | 1.0000 |
| 4:73853781:A:AG | acceptor_gain | 1.0000 |
| 4:73853781:AGCT:A | acceptor_gain | 1.0000 |
| 4:73853782:G:GT | acceptor_gain | 1.0000 |
| 4:73853782:GC:G | acceptor_gain | 1.0000 |
| 4:73853782:GCT:G | acceptor_gain | 1.0000 |
| 4:73853782:GCTG:G | acceptor_gain | 1.0000 |
| 4:73853782:GCTGA:G | acceptor_gain | 1.0000 |
| 4:73853905:CTCAT:C | donor_gain | 1.0000 |
| 4:73853909:TGT:T | donor_loss | 1.0000 |
| 4:73853910:G:GA | donor_loss | 1.0000 |
| 4:73853910:G:GG | donor_gain | 1.0000 |
| 4:73853912:GA:G | donor_loss | 1.0000 |
| 4:73853464:T:A | donor_loss | 0.9900 |
| 4:73853784:T:A | acceptor_gain | 0.9900 |
| 4:73853866:G:GT | donor_gain | 0.9900 |
| 4:73853906:TCAT:T | donor_gain | 0.9900 |
| 4:73853907:CAT:C | donor_gain | 0.9900 |
| 4:73853908:AT:A | donor_gain | 0.9900 |
| 4:73853913:AG:A | donor_loss | 0.9900 |
| 4:73853914:G:C | donor_loss | 0.9900 |
| 4:73854031:CCAG:C | acceptor_gain | 0.9900 |
| 4:73854033:A:AG | acceptor_gain | 0.9900 |
| 4:73854034:G:GG | acceptor_gain | 0.9900 |
| 4:73854034:GA:G | acceptor_gain | 0.9900 |
| 4:73854034:GAGCC:G | acceptor_gain | 0.9900 |
| 4:73854029:TGCCA:T | acceptor_loss | 0.9800 |
AlphaMissense
666 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:73854037:C:A | A77D | 0.959 |
| 4:73853890:T:A | C70S | 0.937 |
| 4:73853891:G:C | C70S | 0.937 |
| 4:73854063:T:A | C86S | 0.928 |
| 4:73854064:G:C | C86S | 0.928 |
| 4:73853818:T:A | C46S | 0.923 |
| 4:73853819:G:C | C46S | 0.923 |
| 4:73853890:T:C | C70R | 0.916 |
| 4:73853812:T:A | C44S | 0.907 |
| 4:73853813:G:C | C44S | 0.907 |
| 4:73854063:T:C | C86R | 0.907 |
| 4:73854067:T:C | L87S | 0.900 |
| 4:73853891:G:A | C70Y | 0.878 |
| 4:73854065:C:G | C86W | 0.877 |
| 4:73853906:T:C | L75P | 0.875 |
| 4:73853812:T:C | C44R | 0.874 |
| 4:73854064:G:A | C86Y | 0.863 |
| 4:73853890:T:G | C70G | 0.862 |
| 4:73853818:T:C | C46R | 0.858 |
| 4:73854052:G:T | G82V | 0.858 |
| 4:73853892:C:G | C70W | 0.854 |
| 4:73853855:T:C | I58T | 0.842 |
| 4:73853855:T:G | I58S | 0.840 |
| 4:73854036:G:C | A77P | 0.839 |
| 4:73853819:G:A | C46Y | 0.835 |
| 4:73854063:T:G | C86G | 0.812 |
| 4:73853904:A:C | Q74H | 0.803 |
| 4:73853904:A:T | Q74H | 0.803 |
| 4:73853855:T:A | I58N | 0.799 |
| 4:73853891:G:T | C70F | 0.788 |
dbSNP variants (sampled 300 via entrez): RS1000494433 (4:73854948 A>C,G), RS1000633386 (4:73854704 C>T), RS1003176557 (4:73852422 T>C), RS1004772460 (4:73854296 T>C), RS1005140536 (4:73851858 C>A,T), RS1005188210 (4:73854836 A>G), RS1006300099 (4:73851328 C>G,T), RS1006743023 (4:73851533 A>G), RS1007156677 (4:73854381 T>A,C), RS1008121288 (4:73851763 G>A), RS1009262247 (4:73852787 G>T), RS1009314584 (4:73852465 G>A), RS1011900158 (4:73852066 G>T), RS1014763759 (4:73854303 A>G), RS1014813902 (4:73851863 T>C)
Disease associations
OMIM: gene MIM:173461 | 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 |
|---|---|---|
| GCST001725_78 | Inflammatory bowel disease | 3.000000e-08 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
20 total (human), top 20 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Asian ginseng | decreases reaction, increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| trichostatin A | increases expression | 1 |
| arsenite | increases methylation | 1 |
| chromium hexavalent ion | increases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| thrombin receptor-activating peptide SFLLRNPNDKY | decreases reaction, increases secretion | 1 |
| K 7174 | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Aspirin | decreases reaction, increases secretion | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Diethylhexyl Phthalate | decreases reaction, increases expression | 1 |
| Malathion | decreases expression | 1 |
| Tamoxifen | affects expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| beta-Naphthoflavone | increases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
| Coal Ash | increases 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.