ANGPTL6
geneOn this page
Also known as ARP5AGF
Summary
ANGPTL6 (angiopoietin like 6, HGNC:23140) is a protein-coding gene on chromosome 19p13.2, encoding Angiopoietin-related protein 6 (Q8NI99). May play a role in the wound healing process.
Predicted to enable signaling receptor binding activity. Predicted to be involved in angiogenesis; blood coagulation; and cell differentiation. Located in collagen-containing extracellular matrix and extracellular exosome. Biomarker of gestational diabetes.
Source: NCBI Gene 83854 — RefSeq curated summary.
At a glance
- Gene–disease (curated): brain aneurysm (Strong, GenCC) — +1 more curated relationship
- GWAS associations: 2
- Clinical variants (ClinVar): 104 total
- Phenotypes (HPO): 15
- MANE Select transcript:
NM_031917
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23140 |
| Approved symbol | ANGPTL6 |
| Name | angiopoietin like 6 |
| Location | 19p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ARP5, AGF |
| Ensembl gene | ENSG00000130812 |
| Ensembl biotype | protein_coding |
| OMIM | 609336 |
| Entrez | 83854 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 10 protein_coding, 1 retained_intron
ENST00000253109, ENST00000586910, ENST00000589181, ENST00000592641, ENST00000890998, ENST00000890999, ENST00000891000, ENST00000891001, ENST00000891002, ENST00000891003, ENST00000930867
RefSeq mRNA: 4 — MANE Select: NM_031917
NM_001321411, NM_001387347, NM_001387348, NM_031917
CCDS: CCDS12224
Canonical transcript exons
ENST00000253109 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001383912 | 10102568 | 10102678 |
| ENSE00003979668 | 10094758 | 10094938 |
| ENSE00003979669 | 10093693 | 10093880 |
| ENSE00003979670 | 10092338 | 10092779 |
| ENSE00003979672 | 10093349 | 10093619 |
| ENSE00003979682 | 10095982 | 10096573 |
Expression profiles
Bgee: expression breadth ubiquitous, 153 present calls, max score 88.34.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3940 / max 20.8603, expressed in 171 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 179066 | 0.2427 | 102 |
| 179067 | 0.0986 | 45 |
| 179068 | 0.0527 | 23 |
Top tissues by expression
252 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 88.34 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.85 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.38 | gold quality |
| liver | UBERON:0002107 | 82.68 | gold quality |
| cartilage tissue | UBERON:0002418 | 73.15 | gold quality |
| granulocyte | CL:0000094 | 70.64 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 70.20 | gold quality |
| spleen | UBERON:0002106 | 68.88 | gold quality |
| vermiform appendix | UBERON:0001154 | 67.01 | gold quality |
| lymph node | UBERON:0000029 | 66.76 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 64.41 | gold quality |
| bone marrow cell | CL:0002092 | 64.19 | silver quality |
| small intestine | UBERON:0002108 | 62.94 | gold quality |
| blood | UBERON:0000178 | 61.50 | gold quality |
| placenta | UBERON:0001987 | 61.50 | gold quality |
| caecum | UBERON:0001153 | 61.21 | gold quality |
| sperm | CL:0000019 | 61.17 | gold quality |
| prefrontal cortex | UBERON:0000451 | 60.85 | gold quality |
| ileal mucosa | UBERON:0000331 | 60.45 | silver quality |
| jejunal mucosa | UBERON:0000399 | 60.43 | silver quality |
| mucosa of transverse colon | UBERON:0004991 | 59.61 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 58.61 | gold quality |
| tibia | UBERON:0000979 | 58.30 | silver quality |
| stomach | UBERON:0000945 | 58.04 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 58.04 | gold quality |
| body of stomach | UBERON:0001161 | 57.97 | gold quality |
| leukocyte | CL:0000738 | 57.74 | gold quality |
| duodenum | UBERON:0002114 | 57.40 | gold quality |
| body of pancreas | UBERON:0001150 | 57.12 | gold quality |
| monocyte | CL:0000576 | 56.98 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.45 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
21 targeting ANGPTL6, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-4648 | 99.91 | 67.00 | 710 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-6715A-3P | 99.83 | 68.05 | 1473 |
| HSA-MIR-4649-3P | 99.56 | 66.90 | 1783 |
| HSA-MIR-6887-5P | 98.56 | 68.49 | 1295 |
| HSA-MIR-6852-3P | 98.54 | 67.60 | 1468 |
| HSA-MIR-6795-5P | 98.52 | 68.51 | 1277 |
| HSA-MIR-7114-5P | 98.51 | 67.87 | 1349 |
| HSA-MIR-6827-5P | 98.46 | 64.88 | 1256 |
| HSA-MIR-1199-5P | 98.44 | 66.51 | 829 |
| HSA-MIR-6751-3P | 98.44 | 66.35 | 835 |
| HSA-MIR-5008-5P | 98.42 | 65.87 | 1019 |
| HSA-MIR-3670 | 97.88 | 64.39 | 763 |
| HSA-MIR-556-5P | 97.75 | 66.17 | 473 |
| HSA-MIR-3909 | 97.55 | 66.78 | 887 |
| HSA-MIR-194-3P | 97.36 | 65.96 | 1027 |
| HSA-MIR-134-3P | 96.83 | 66.22 | 1001 |
| HSA-MIR-4512 | 95.26 | 63.08 | 371 |
| HSA-MIR-4523 | 85.64 | 61.16 | 64 |
Literature-anchored findings (GeneRIF, showing 24)
- findings suggest that AGF affects epidermal proliferation and thereby plays a role in the wound healing process (PMID:12871997)
- showed that AGF is a secreted protein, AGF directly promotes chemotactic activity of vascular endothelial cells, and AGF directly induces a permeability change in the local vasculature. (PMID:14764539)
- Our results strongly suggest that AGF is an integrin ligand as well as a mitogenic growth factor and theoretically participates in cutaneous wound healing in a more complex mechanism. (PMID:16806062)
- study of associations between ANGPTL6 polymorphisms and metabolic syndrome or related phenotypes in a French population (PMID:19447061)
- serum AGF levels were paradoxically increased in metabolic syndrome, in comparison with data from animal experiments and data on sex, age, and waist circumference (PMID:20673930)
- ANGPTL6 affects resting metabolic rate (RMR), significantly improves lipid profile and slightly improves insulin levels and insulin sensitivity, as well. (PMID:21460784)
- Serum AGF levels are significantly higher in subjects with polycystic ovary syndrome than those in the healthy control group. (PMID:22406517)
- Interaction between alpha6 integrin and E-cadherin drives liver metastasis of colorectal cancer cells through hepatic angiopoietin-like 6. (PMID:23070965)
- There are no significant differences in maternal Angptl6/ARP5 serum level between pre-eclamptic women and normally pregnant control women (PMID:23718665)
- In the second trimester, Angptl6 levels are higher in women with subsequent pregnancy-induced hypertension. (PMID:23905605)
- AGF concentrations is significantly higher in patients with type 2 diabetes as compared to controls. (PMID:25011017)
- Serum ANGPTL6 levels increased in patients with a hypothyroid status, and both TSH and free T4 levels are associated with ANGPLT6 levels, suggesting a possible association between thyroid function and ANGPTL6 levels. (PMID:26189599)
- ANGPTL6, S100A8 and S100A9 are overexpressed in skin of psoriasis patients versus zero expression in controls. (PMID:27698489)
- Data suggest that serum AGF levels are up-regulated in type 2 diabetic patients with lower extremity peripheral arterial disease according to disease severity; patients with highest serum AGF levels exhibit increased cardiovascular mortality and all-cause mortality. (PMID:27866700)
- Poor glycemic control in diabetes mellitus as reflected by higher serum HbA1c levels is associated with raised serum ANGPTL6 levels (PMID:29033485)
- rare coding variants in ANGPTL6 are causally related to familial forms of Intracranial aneurysms. (PMID:29304371)
- ANGPTL6 is an important driver gene of angiogenesis in AFPGC development (PMID:31146977)
- Investigating the Role of Myeloperoxidase and Angiopoietin-like Protein 6 in Obesity and Diabetes. (PMID:32277104)
- ANGPTL6 Genetic Variants Are an Underlying Cause of Familial Intracranial Aneurysms. (PMID:33106390)
- Angiopoietin-Like Growth Factor Involved in Leptin Signaling in the Hypothalamus. (PMID:33810547)
- Use of proteomics to identify mechanisms of hepatocellular carcinoma with the CYP2D6*10 polymorphism and identification of ANGPTL6 as a new diagnostic and prognostic biomarker. (PMID:34412629)
- Differential Proteomic Profiles of Coronary Serum Exosomes in Acute Myocardial Infarction Patients with or Without Diabetes Mellitus: ANGPTL6 Accelerates Regeneration of Endothelial Cells Treated with Rapamycin via MAPK Pathways. (PMID:35821539)
- Relationship of ANGPTL6 With Neonatal Glucose Homeostasis and Fat Mass Is Disrupted in Gestational Diabetic Pregnancies. (PMID:35876300)
- Associations of ANGPTL6, DOCK6, FABP1, and PCSK9 single-nucleotide variants with hypercholesterolemia in the Polish population: a cross-sectional study. (PMID:36601873)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | angptl6 | ENSDARG00000020265 |
| mus_musculus | Angptl6 | ENSMUSG00000038742 |
| rattus_norvegicus | Angptl6 | ENSRNOG00000020603 |
Paralogs (25): TNC (ENSG00000041982), FCN1 (ENSG00000085265), ANGPT2 (ENSG00000091879), ANGPT4 (ENSG00000101280), FGL1 (ENSG00000104760), FN1 (ENSG00000115414), TNR (ENSG00000116147), ANGPTL1 (ENSG00000116194), TNN (ENSG00000120332), FGL2 (ENSG00000127951), FIBCD1 (ENSG00000130720), ANGPTL3 (ENSG00000132855), ANGPTL2 (ENSG00000136859), FCN3 (ENSG00000142748), FNDC7 (ENSG00000143107), ANGPT1 (ENSG00000154188), FCN2 (ENSG00000160339), MFAP4 (ENSG00000166482), ANGPTL4 (ENSG00000167772), TNXB (ENSG00000168477), FGG (ENSG00000171557), FGA (ENSG00000171560), FGB (ENSG00000171564), ANGPTL7 (ENSG00000171819), ANGPTL5 (ENSG00000187151)
Protein
Protein identifiers
Angiopoietin-related protein 6 — Q8NI99 (reviewed: Q8NI99)
Alternative names: Angiopoietin-like protein 6, Angiopoietin-related growth factor, Angiopoietin-related protein 5
All UniProt accessions (2): Q8NI99, K7EKF6
UniProt curated annotations — full annotation on UniProt →
Function. May play a role in the wound healing process. May promote epidermal proliferation, remodeling and regeneration. May promote the chemotactic activity of endothelial cells and induce neovascularization. May counteract high-fat diet-induced obesity and related insulin resistance through increased energy expenditure.
Subcellular location. Secreted.
RefSeq proteins (4): NP_001308340, NP_001374276, NP_001374277, NP_114123* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002181 | Fibrinogen_a/b/g_C_dom | Domain |
| IPR014716 | Fibrinogen_a/b/g_C_1 | Homologous_superfamily |
| IPR020837 | Fibrinogen_CS | Conserved_site |
| IPR036056 | Fibrinogen-like_C | Homologous_superfamily |
| IPR037579 | FIB_ANG-like | Family |
Pfam: PF00147
UniProt features (30 total): strand 12, helix 7, glycosylation site 2, disulfide bond 2, signal peptide 1, chain 1, domain 1, turn 1, region of interest 1, coiled-coil region 1, sequence conflict 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6Y43 | X-RAY DIFFRACTION | 1.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NI99-F1 | 76.03 | 0.44 |
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 (2): 260–287, 410–423
Glycosylation sites (2): 58, 145
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 133 (showing top):
GOCC_SECRETORY_GRANULE, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_WOUND_HEALING, VART_KSHV_INFECTION_ANGIOGENIC_MARKERS_UP, GROSS_HYPOXIA_VIA_ELK3_DN, GOBP_BLOOD_VESSEL_MORPHOGENESIS, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, GOBP_HEMOSTASIS, HAND1E47_01, GOMF_SIGNALING_RECEPTOR_BINDING, GOBP_REGULATION_OF_BODY_FLUID_LEVELS, GOBP_CIRCULATORY_SYSTEM_DEVELOPMENT, GOCC_SECRETORY_VESICLE, chr19p13, GOBP_TUBE_MORPHOGENESIS
GO Biological Process (3): angiogenesis (GO:0001525), blood coagulation (GO:0007596), cell differentiation (GO:0030154)
GO Molecular Function (1): signaling receptor binding (GO:0005102)
GO Cellular Component (5): obsolete extracellular space (GO:0005615), secretory granule (GO:0030141), extracellular matrix (GO:0031012), extracellular exosome (GO:0070062), extracellular region (GO:0005576)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| blood vessel morphogenesis | 1 |
| anatomical structure formation involved in morphogenesis | 1 |
| hemostasis | 1 |
| wound healing | 1 |
| coagulation | 1 |
| cellular developmental process | 1 |
| protein binding | 1 |
| endomembrane system | 1 |
| secretory vesicle | 1 |
| external encapsulating structure | 1 |
| extracellular vesicle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
390 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ANGPTL6 | CDH1 | P12830 | 839 |
| ANGPTL6 | ITGA2B | P08514 | 669 |
| ANGPTL6 | ANGPTL8 | Q6UXH0 | 660 |
| ANGPTL6 | LECT2 | O14960 | 496 |
| ANGPTL6 | FGF21 | Q9NSA1 | 479 |
| ANGPTL6 | SELENOP | P49908 | 476 |
| ANGPTL6 | AHSG | P02765 | 446 |
| ANGPTL6 | TIE1 | P35590 | 402 |
| ANGPTL6 | VASH1 | Q7L8A9 | 371 |
| ANGPTL6 | STC1 | P52823 | 369 |
| ANGPTL6 | ENHO | Q6UWT2 | 360 |
| ANGPTL6 | HTATIP2 | Q9BUP3 | 360 |
| ANGPTL6 | TNFSF15 | O95150 | 359 |
| ANGPTL6 | TMEM116 | Q8NCL8 | 351 |
| ANGPTL6 | GLG1 | Q92896 | 350 |
| ANGPTL6 | AGA | P20933 | 350 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| STAT5A | FLOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| ATG16L1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (4): ANGPTL6 (Proximity Label-MS), ANGPTL6 (Affinity Capture-MS), ANGPTL6 (Affinity Capture-MS), ANGPTL6 (Two-hybrid)
ESM2 similar proteins: A2AV25, A5PJQ2, O35764, O43278, O43827, O70165, O95841, O95897, P02675, P02678, P04115, P12804, P14480, P30203, P33573, Q0P4P2, Q14314, Q1RMR1, Q24K15, Q29041, Q29042, Q29RY7, Q2KJ51, Q2TNK5, Q568Y7, Q5EA66, Q5FB95, Q5I2E5, Q5XK91, Q640P2, Q6AX44, Q6TMA8, Q8BM13, Q8IUK5, Q8K0E8, Q8N539, Q8NI99, Q8R0Z6, Q8R1Q3, Q91ZV7
Diamond homologs: A0A8J8, A2AV25, D8VNS7, D8VNS8, D8VNS9, D8VNT0, E2IYB3, E9PV24, O00602, O08538, O15123, O18920, O35460, O35462, O35608, O43827, O70165, O70497, O75636, O77802, O93526, O95841, P02671, P02675, P02676, P02678, P02679, P02680, P04115, P06399, P10039, P12799, P12804, P14448, P14480, P17634, P19477, P21520, P22105, P24821
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
104 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 91 |
| Likely benign | 6 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
952 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:10093344:CTTA:C | donor_loss | 1.0000 |
| 19:10093347:A:AC | donor_gain | 1.0000 |
| 19:10093348:C:CC | donor_gain | 1.0000 |
| 19:10093348:CCAG:C | donor_loss | 1.0000 |
| 19:10094754:TTA:T | donor_loss | 1.0000 |
| 19:10094755:TAC:T | donor_loss | 1.0000 |
| 19:10094756:A:T | donor_loss | 1.0000 |
| 19:10094756:AC:A | donor_gain | 1.0000 |
| 19:10094757:CC:C | donor_gain | 1.0000 |
| 19:10094757:CCCA:C | donor_gain | 1.0000 |
| 19:10094940:T:A | acceptor_loss | 1.0000 |
| 19:10106370:G:GT | donor_gain | 1.0000 |
| 19:10106408:G:GT | donor_gain | 1.0000 |
| 19:10106408:GGAGG:G | donor_gain | 1.0000 |
| 19:10106409:G:T | donor_gain | 1.0000 |
| 19:10106409:GAGG:G | donor_gain | 1.0000 |
| 19:10106409:GAGGG:G | donor_gain | 1.0000 |
| 19:10106410:A:T | donor_gain | 1.0000 |
| 19:10106411:GG:G | donor_gain | 1.0000 |
| 19:10106412:GG:G | donor_gain | 1.0000 |
| 19:10106413:G:GC | donor_loss | 1.0000 |
| 19:10106414:T:A | donor_loss | 1.0000 |
| 19:10106496:CGCA:C | acceptor_loss | 1.0000 |
| 19:10106497:GCAGT:G | acceptor_loss | 1.0000 |
| 19:10106498:CA:C | acceptor_loss | 1.0000 |
| 19:10106499:A:AG | acceptor_gain | 1.0000 |
| 19:10106500:G:GC | acceptor_gain | 1.0000 |
| 19:10106500:GT:G | acceptor_gain | 1.0000 |
| 19:10106500:GTCCC:G | acceptor_gain | 1.0000 |
| 19:10092671:T:TA | donor_gain | 0.9900 |
AlphaMissense
2996 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:10092658:C:A | W448C | 0.999 |
| 19:10092658:C:G | W448C | 0.999 |
| 19:10092734:C:T | C423Y | 0.999 |
| 19:10092745:C:A | W419C | 0.999 |
| 19:10092745:C:G | W419C | 0.999 |
| 19:10092747:A:G | W419R | 0.999 |
| 19:10092747:A:T | W419R | 0.999 |
| 19:10092773:C:G | C410S | 0.999 |
| 19:10092773:C:T | C410Y | 0.999 |
| 19:10092774:A:T | C410S | 0.999 |
| 19:10093380:G:C | S397R | 0.999 |
| 19:10093380:G:T | S397R | 0.999 |
| 19:10093382:T:G | S397R | 0.999 |
| 19:10093384:A:C | F396C | 0.999 |
| 19:10093384:A:G | F396S | 0.999 |
| 19:10092660:A:G | W448R | 0.998 |
| 19:10092660:A:T | W448R | 0.998 |
| 19:10092715:G:C | N429K | 0.998 |
| 19:10092715:G:T | N429K | 0.998 |
| 19:10092734:C:G | C423S | 0.998 |
| 19:10092735:A:T | C423S | 0.998 |
| 19:10092748:C:A | W418C | 0.998 |
| 19:10092748:C:G | W418C | 0.998 |
| 19:10092750:A:G | W418R | 0.998 |
| 19:10092750:A:T | W418R | 0.998 |
| 19:10092772:A:C | C410W | 0.998 |
| 19:10092773:C:A | C410F | 0.998 |
| 19:10093383:G:C | F396L | 0.998 |
| 19:10093383:G:T | F396L | 0.998 |
| 19:10093385:A:G | F396L | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000134422 (19:10094621 G>A), RS1000143334 (19:10100444 C>T), RS1000270421 (19:10094442 G>A,C), RS1000522015 (19:10095972 G>A), RS1000836315 (19:10107201 G>T), RS1000867060 (19:10105519 A>G), RS1000896394 (19:10096929 TA>T), RS1000907135 (19:10102992 T>A,C), RS1001632745 (19:10102394 C>A,T), RS1001768624 (19:10102177 G>A), RS1001777895 (19:10107007 T>A), RS1001914776 (19:10106782 A>G), RS1002104177 (19:10103175 C>T), RS1002245662 (19:10102471 T>C), RS1002304897 (19:10106455 C>A,T)
Disease associations
OMIM: gene MIM:609336 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| brain aneurysm | Strong | Autosomal dominant |
| intracranial berry aneurysm | Supportive | Autosomal dominant |
Mondo (2): intracranial berry aneurysm (MONDO:0016483), brain aneurysm (MONDO:0005291)
Orphanet (0):
HPO phenotypes
15 total (15 of 15 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000822 | Hypertension |
| HP:0001123 | Visual field defect |
| HP:0001250 | Seizure |
| HP:0001269 | Hemiparesis |
| HP:0002138 | Subarachnoid hemorrhage |
| HP:0002170 | Intracranial hemorrhage |
| HP:0002326 | Transient ischemic attack |
| HP:0002363 | Abnormal brainstem morphology |
| HP:0002616 | Aortic root aneurysm |
| HP:0002621 | Atherosclerosis |
| HP:0002647 | Aortic dissection |
| HP:0007029 | Cerebral berry aneurysm |
| HP:0012246 | Oculomotor nerve palsy |
| HP:0012518 | Abnormal circle of Willis morphology |
| HP:0040197 | Encephalomalacia |
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000189_31 | Protein quantitative trait loci | 4.000000e-07 |
| GCST001859_12 | Thiazide-induced adverse metabolic effects in hypertensive patients | 3.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004530 | triglyceride measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D002532 | Intracranial Aneurysm | C10.228.140.300.510.600; C14.907.055.635; C14.907.253.560.300 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
14 total (human), top 14 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases methylation, increases expression | 2 |
| Nickel | increases expression | 2 |
| Valproic Acid | affects expression, increases methylation | 2 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Okadaic Acid | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1EI | Abcam A-549 ANGPTL6 KO | Cancer cell line | Male |
Clinical trials (associated diseases)
27 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01444664 | PHASE4 | COMPLETED | Aneurysm Wall Histology Registry |
| NCT02037932 | PHASE4 | WITHDRAWN | Hydrogel Balloon Assisted Intracranial Aneurysm Coiling Registry |
| NCT00783523 | PHASE1 | COMPLETED | Influence of MMP on Brain AVM Hemorrhage |
| NCT00537134 | Not specified | TERMINATED | Trial on Endovascular Aneurysm Management |
| NCT01557036 | Not specified | TERMINATED | Aneurysm Study of Pipeline in an Observational Registry |
| NCT01558102 | Not specified | COMPLETED | International Retrospective Study of Pipeline Embolization Device |
| NCT01716117 | Not specified | COMPLETED | Safety and Effectiveness of an Intracranial Aneurysm Embolization System for Treating Large or Giant Wide Neck Aneurysms |
| NCT01975233 | Not specified | COMPLETED | WEB French Observatory of the WEB Aneurysm Embolization System |
| NCT02345395 | Not specified | UNKNOWN | Safety Study of Minimally Invasive Approaches to Unruptured Anterior Circulation Aneurysms |
| NCT02381522 | Not specified | COMPLETED | Remote Ischemic Pre-conditioning in Subarachnoid Hemorrhage |
| NCT02435823 | Not specified | COMPLETED | Safety Study of the PulseRider® in Patients Undergoing Treatment for Bifurcation Intracranial Aneurysms |
| NCT02687607 | Not specified | COMPLETED | CLARYS: CLinical Assessment of WEB® Device in Ruptured aneurYSms |
| NCT03844334 | Not specified | COMPLETED | CLinical EValuation of WEB 0.017 Device in Intracranial AneuRysms |
| NCT03852680 | Not specified | UNKNOWN | Current Treatment Modalities for Wide Necked Intracranial Aneurysms |
| NCT03936647 | Not specified | RECRUITING | The RISE Trial: A Randomized Trial on Intra-Saccular Endobridge Devices |
| NCT04439760 | Not specified | COMPLETED | Superior Cervical Ganglion Block, Transcranial Doppler |
| NCT04553549 | Not specified | COMPLETED | Safety and Feasibility of the Infinity Catheter for Radial Access |
| NCT05317169 | Not specified | UNKNOWN | Aneurysm Genetic Risk in Patients With QIB Changes |
| NCT05626504 | Not specified | UNKNOWN | Outcome Study of the Pipeline Embolization Device With Vantage Technology in Unruptured Aneurysms |
| NCT06456814 | Not specified | RECRUITING | Epidemiological Insights Into the Formation, Progression, and Rupture of Intracranial Aneurysms: A Retrospective, Multi-Center Hospital-Based Study in China |
| NCT06541275 | Not specified | ENROLLING_BY_INVITATION | Reduction in Volume and Prolonged Shrinkage of Brain Aneurysms After Combined Endovascular Interventions |
| NCT06689410 | Not specified | RECRUITING | Multimodal Biocollection Linked to the French Register of Intracranial Aneurysms |
| NCT06761365 | Not specified | RECRUITING | LUMENS-1 EU EFS CIP |
| NCT06798740 | Not specified | RECRUITING | Post Market Registry Study of Intracranial Aneurysms Treated With Sugita Clipping Devices |
| NCT07143019 | Not specified | RECRUITING | The Use of p48/64 MW HPC Flow Modulation Device in the Treatment of Wide-necked Intracranial Aneurysms |
| NCT07175519 | Not specified | RECRUITING | Safety and Efficacy of Aneurysms Treated With Endovascular Devices |
| NCT07259018 | Not specified | NOT_YET_RECRUITING | LUMENS-1 Canada Early Feasibility Study Clinical Investigation Plan |
Related Atlas pages
- Associated diseases: intracranial berry aneurysm, brain aneurysm
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): brain aneurysm, intracranial berry aneurysm