ANGPT4
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Summary
ANGPT4 (angiopoietin 4, HGNC:487) is a protein-coding gene on chromosome 20p13, encoding Angiopoietin-4 (Q9Y264). Binds to TEK/TIE2, modulating ANGPT1 signaling.
Angiopoietins are proteins with important roles in vascular development and angiogenesis. All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine-protein kinase receptor. The mechanism by which they contribute to angiogenesis is thought to involve regulation of endothelial cell interactions with supporting perivascular cells. The protein encoded by this gene functions as an agonist and is an angiopoietin.
Source: NCBI Gene 51378 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 111 total — 12 pathogenic, 4 likely-pathogenic
- MANE Select transcript:
NM_015985
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:487 |
| Approved symbol | ANGPT4 |
| Name | angiopoietin 4 |
| Location | 20p13 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000101280 |
| Ensembl biotype | protein_coding |
| OMIM | 603705 |
| Entrez | 51378 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000381922, ENST00000878109
RefSeq mRNA: 2 — MANE Select: NM_015985
NM_001322809, NM_015985
CCDS: CCDS13009
Canonical transcript exons
ENST00000381922 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000655125 | 874284 | 874414 |
| ENSE00000655126 | 878161 | 878327 |
| ENSE00000655127 | 879747 | 879848 |
| ENSE00000655128 | 881171 | 881286 |
| ENSE00000655130 | 888318 | 888439 |
| ENSE00000655133 | 890213 | 890368 |
| ENSE00000858558 | 885078 | 885325 |
| ENSE00001490278 | 869900 | 873120 |
| ENSE00001490322 | 915906 | 916334 |
Expression profiles
Bgee: expression breadth ubiquitous, 122 present calls, max score 72.51.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2193 / max 43.1889, expressed in 80 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 185993 | 0.2193 | 80 |
Top tissues by expression
273 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| subcutaneous adipose tissue | UBERON:0002190 | 72.51 | gold quality |
| left uterine tube | UBERON:0001303 | 72.29 | gold quality |
| olfactory bulb | UBERON:0002264 | 72.09 | gold quality |
| type B pancreatic cell | CL:0000169 | 72.08 | gold quality |
| right ovary | UBERON:0002118 | 71.26 | gold quality |
| endocervix | UBERON:0000458 | 70.64 | gold quality |
| omental fat pad | UBERON:0010414 | 68.96 | gold quality |
| peritoneum | UBERON:0002358 | 68.92 | gold quality |
| popliteal artery | UBERON:0002250 | 68.90 | gold quality |
| tibial artery | UBERON:0007610 | 68.89 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 68.34 | gold quality |
| body of uterus | UBERON:0009853 | 68.03 | gold quality |
| left ovary | UBERON:0002119 | 66.85 | gold quality |
| ectocervix | UBERON:0012249 | 66.80 | gold quality |
| diaphragm | UBERON:0001103 | 65.62 | gold quality |
| adipose tissue | UBERON:0001013 | 64.98 | gold quality |
| uterine cervix | UBERON:0000002 | 64.38 | gold quality |
| connective tissue | UBERON:0002384 | 64.08 | gold quality |
| right coronary artery | UBERON:0001625 | 63.87 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 63.41 | gold quality |
| secondary oocyte | CL:0000655 | 63.16 | gold quality |
| ovary | UBERON:0000992 | 62.48 | gold quality |
| left coronary artery | UBERON:0001626 | 62.13 | gold quality |
| aorta | UBERON:0000947 | 62.08 | gold quality |
| coronary artery | UBERON:0001621 | 62.07 | gold quality |
| thymus | UBERON:0002370 | 61.91 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 61.76 | gold quality |
| cervix epithelium | UBERON:0004801 | 61.48 | gold quality |
| blood vessel layer | UBERON:0004797 | 61.16 | gold quality |
| oral cavity | UBERON:0000167 | 61.02 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 11.14 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): GLI1, HIF1A
miRNA regulators (miRDB)
117 targeting ANGPT4, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
Literature-anchored findings (GeneRIF, showing 11)
- the angiopoietin/Tie-2 system may participate in the angiogenic response to hypoxia in renal tissues and in tumor angiogenesis in renal carcinoma. (PMID:15198927)
- Recombinant Ang4 formed disulfide-linked dimers. Ang4 produces corneal angiogenesis extending from the limbus across the mouse cornea in vivo. Ang4 is an agonist of Tie2. (PMID:15284220)
- angiopoietin-4 inhibits angiogenesis and reduces interstitial fluid pressure (PMID:16790085)
- Results describe the expression of angiopoietin-1, 2 and 4 and Tie-1 and 2 in gastrointestinal stromal tumors, leiomyomas and schwannomas. (PMID:17724803)
- Linkage to 20p13 including the ANGPT4 gene in families with mixed Alzheimer disease and vascular dementia is reported. (PMID:20596041)
- Results establish the novel effects of Ang-4 on tumor angiogenesis and GBM progression and suggest that this pro-GBM effect of Ang-4 is mediated by promoting tumor angiogenesis and activating Erk1/2 kinase in GBM cells. (PMID:20823154)
- In tumor cells, only Ang-4 expression has prognostic impact in NSCLC. In NSCLC tumor stroma, Ang-4 and Ang-2 are independently associated with survival. (PMID:21603628)
- Angptl4 is a glucocorticoid-responsive mediator of fasting-induced intracellular lipolysis and stimulates cAMP signaling in adipocytes (PMID:22267746)
- acute-phase protein A1AT is a physiological regulator of angptl4, another acute-phase protein. (PMID:24760148)
- Ang-4 also promoted survival of LECs. Thus, blocking Ang-4 may prune the draining lymphatic vasculature and decrease interstitial fluid pressure (IFP) by reducing vascular permeability. (PMID:25977256)
- Dual functional nanoparticles containing SOX duo and ANGPT4 shRNA for osteoarthritis treatment. (PMID:30957437)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | angpt4 | ENSDARG00000076787 |
| mus_musculus | Angpt4 | ENSMUSG00000027460 |
| rattus_norvegicus | Angpt4 | ENSRNOG00000005008 |
Paralogs (25): TNC (ENSG00000041982), FCN1 (ENSG00000085265), ANGPT2 (ENSG00000091879), FGL1 (ENSG00000104760), FN1 (ENSG00000115414), TNR (ENSG00000116147), ANGPTL1 (ENSG00000116194), TNN (ENSG00000120332), FGL2 (ENSG00000127951), FIBCD1 (ENSG00000130720), ANGPTL6 (ENSG00000130812), 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-4 — Q9Y264 (reviewed: Q9Y264)
Alternative names: Angiopoietin-3
All UniProt accessions (1): Q9Y264
UniProt curated annotations — full annotation on UniProt →
Function. Binds to TEK/TIE2, modulating ANGPT1 signaling. Can induce tyrosine phosphorylation of TEK/TIE2. Promotes endothelial cell survival, migration and angiogenesis.
Subunit / interactions. Homodimer; disulfide-linked. Interacts with TEK/TIE2.
Subcellular location. Secreted.
Tissue specificity. Highly expressed in the lung with much lower levels found in other tissues.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y264-1 | 1 | yes |
| Q9Y264-2 | 2 |
RefSeq proteins (2): NP_001309738, NP_057069* (*=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 |
| IPR057439 | ANG-1/2/4 | Domain |
Pfam: PF00147, PF25443
UniProt features (17 total): glycosylation site 9, disulfide bond 2, signal peptide 1, chain 1, splice variant 1, sequence variant 1, domain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y264-F1 | 83.33 | 0.60 |
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): 291–320, 444–457
Glycosylation sites (9): 311, 337, 427, 96, 126, 140, 158, 247, 274
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-210993 | Tie2 Signaling |
| R-HSA-109582 | Hemostasis |
| R-HSA-202733 | Cell surface interactions at the vascular wall |
MSigDB gene sets: 151 (showing top):
GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_NEGATIVE_REGULATION_OF_BLOOD_VESSEL_ENDOTHELIAL_CELL_MIGRATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_POSITIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, CAGCTG_AP4_Q5, GOBP_POSITIVE_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION, REACTOME_TIE2_SIGNALING, GOBP_POSITIVE_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION, GOBP_WOUND_HEALING, GOMF_KINASE_ACTIVATOR_ACTIVITY, VART_KSHV_INFECTION_ANGIOGENIC_MARKERS_UP, GOBP_BLOOD_VESSEL_ENDOTHELIAL_CELL_MIGRATION, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_LEVELS
GO Biological Process (13): angiogenesis (GO:0001525), signal transduction (GO:0007165), Notch signaling pathway (GO:0007219), blood coagulation (GO:0007596), positive regulation of endothelial cell migration (GO:0010595), negative regulation of angiogenesis (GO:0016525), negative regulation of apoptotic process (GO:0043066), positive regulation of blood vessel endothelial cell migration (GO:0043536), negative regulation of blood vessel endothelial cell migration (GO:0043537), positive regulation of angiogenesis (GO:0045766), Tie signaling pathway (GO:0048014), positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731), cellular response to hypoxia (GO:0071456)
GO Molecular Function (3): transmembrane receptor protein tyrosine kinase activator activity (GO:0030297), receptor tyrosine kinase binding (GO:0030971), receptor ligand activity (GO:0048018)
GO Cellular Component (2): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Cell surface interactions at the vascular wall | 1 |
| Hemostasis | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| angiogenesis | 2 |
| regulation of angiogenesis | 2 |
| blood vessel endothelial cell migration | 2 |
| regulation of blood vessel endothelial cell migration | 2 |
| signaling receptor activator activity | 2 |
| signaling receptor binding | 2 |
| blood vessel morphogenesis | 1 |
| anatomical structure formation involved in morphogenesis | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| cell surface receptor signaling pathway | 1 |
| hemostasis | 1 |
| wound healing | 1 |
| coagulation | 1 |
| regulation of endothelial cell migration | 1 |
| positive regulation of cell migration | 1 |
| endothelial cell migration | 1 |
| negative regulation of blood vessel morphogenesis | 1 |
| apoptotic process | 1 |
| regulation of apoptotic process | 1 |
| negative regulation of programmed cell death | 1 |
| positive regulation of endothelial cell migration | 1 |
| negative regulation of endothelial cell migration | 1 |
| positive regulation of vasculature development | 1 |
| cell surface receptor protein tyrosine kinase signaling pathway | 1 |
| positive regulation of protein phosphorylation | 1 |
| peptidyl-tyrosine phosphorylation | 1 |
| regulation of peptidyl-tyrosine phosphorylation | 1 |
| response to hypoxia | 1 |
| cellular response to stress | 1 |
| cellular response to decreased oxygen levels | 1 |
| transmembrane receptor protein tyrosine kinase activity | 1 |
| protein tyrosine kinase activator activity | 1 |
| protein tyrosine kinase binding | 1 |
| signal transduction | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
598 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ANGPT4 | TEK | Q02763 | 995 |
| ANGPT4 | TIE1 | P35590 | 942 |
| ANGPT4 | KDR | P35968 | 581 |
| ANGPT4 | VPS51 | Q9UID3 | 571 |
| ANGPT4 | NTRK1 | P04629 | 512 |
| ANGPT4 | ANGPTL1 | O95841 | 507 |
| ANGPT4 | THBS1 | P07996 | 492 |
| ANGPT4 | ANG | P03950 | 490 |
| ANGPT4 | EDNRB | P24530 | 464 |
| ANGPT4 | FN1 | P02751 | 451 |
| ANGPT4 | EDNRA | P25101 | 449 |
| ANGPT4 | FST | P19883 | 435 |
| ANGPT4 | VASH1 | Q7L8A9 | 433 |
| ANGPT4 | HSPG2 | P98160 | 433 |
| ANGPT4 | RNASE1 | P07998 | 431 |
IntAct
6 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| N | CAVIN2 | psi-mi:“MI:0914”(association) | 0.530 |
| ANGPT4 | psi-mi:“MI:0407”(direct interaction) | 0.440 | |
| ANGPT4 | TEK | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| P | psi-mi:“MI:0914”(association) | 0.350 | |
| ANGPT4 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| MAGEA10 | KANSL1L | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (33): ANGPT4 (Reconstituted Complex), ANGPT4 (Affinity Capture-MS), ANGPT4 (Reconstituted Complex), ANGPT4 (Reconstituted Complex), KIF4A (Affinity Capture-MS), CCDC136 (Affinity Capture-MS), IFFO1 (Affinity Capture-MS), DTNBP1 (Affinity Capture-MS), LAMC1 (Affinity Capture-MS), RNF40 (Affinity Capture-MS), SNAPIN (Affinity Capture-MS), EXOC7 (Affinity Capture-MS), NID1 (Affinity Capture-MS), CEP63 (Affinity Capture-MS), NUCB2 (Affinity Capture-MS)
ESM2 similar proteins: A0A8J8, O08538, O15123, O18920, O35460, O35462, O35608, O43827, O77802, O95841, P02675, P02676, P02678, P02679, P02680, P04115, P12799, P12804, P14480, P17634, P21758, P30204, P86239, Q02020, Q08830, Q0P4P2, Q14314, Q15389, Q1RMR1, Q29RY7, Q3SZZ7, Q5EA66, Q5M8C6, Q5XK91, Q60FC1, Q640P2, Q6AX44, Q71KU9, Q86XS5, Q8K0E8
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
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ANGPT4 | up-regulates | TEK | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
111 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 12 |
| Likely pathogenic | 4 |
| Uncertain significance | 80 |
| Likely benign | 8 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (16)
| Variant ID | HGVS | Classification |
|---|---|---|
| 146529 | GRCh38/hg38 20p13(chr20:89939-1494113)x1 | Pathogenic |
| 1526676 | GRCh37/hg19 20p13(chr20:61568-1823540) | Pathogenic |
| 161074 | GRCh38/hg38 20p13(chr20:89939-1852477)x1 | Pathogenic |
| 2671592 | Single allele | Pathogenic |
| 2671604 | Single allele | Pathogenic |
| 35265 | GRCh38/hg38 20p13(chr20:89939-1852477)x1 | Pathogenic |
| 393750 | GRCh37/hg19 20p13(chr20:121521-2073612)x1 | Pathogenic |
| 57188 | GRCh38/hg38 20p13(chr20:89939-1360110)x1 | Pathogenic |
| 57307 | GRCh38/hg38 20p13(chr20:89939-1028206)x3 | Pathogenic |
| 58941 | GRCh38/hg38 20p13(chr20:89939-975656)x1 | Pathogenic |
| 58942 | GRCh38/hg38 20p13(chr20:89939-1939218)x1 | Pathogenic |
| 58945 | GRCh38/hg38 20p13(chr20:121781-2290194)x1 | Pathogenic |
| 154852 | GRCh38/hg38 20p13(chr20:80106-1246891)x1 | Likely pathogenic |
| 155633 | GRCh38/hg38 20p13(chr20:80927-1806080)x1 | Likely pathogenic |
| 3391837 | GRCh37/hg19 20p13(chr20:61569-1091477)x1 | Likely pathogenic |
| 441596 | GRCh37/hg19 20p13(chr20:61568-1651420)x1 | Likely pathogenic |
SpliceAI
1788 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:873116:CCACC:C | acceptor_gain | 1.0000 |
| 20:873117:CACC:C | acceptor_gain | 1.0000 |
| 20:873117:CACCC:C | acceptor_gain | 1.0000 |
| 20:873119:CC:C | acceptor_gain | 1.0000 |
| 20:873120:CCTGG:C | acceptor_gain | 1.0000 |
| 20:878158:CACCT:C | donor_loss | 1.0000 |
| 20:878159:A:AT | donor_loss | 1.0000 |
| 20:878326:CC:C | acceptor_gain | 1.0000 |
| 20:878327:CC:C | acceptor_gain | 1.0000 |
| 20:878328:C:CC | acceptor_gain | 1.0000 |
| 20:878328:CTAT:C | acceptor_loss | 1.0000 |
| 20:878329:T:G | acceptor_loss | 1.0000 |
| 20:879761:T:TA | donor_gain | 1.0000 |
| 20:881173:T:A | donor_gain | 1.0000 |
| 20:885322:CGCG:C | acceptor_gain | 1.0000 |
| 20:885324:CG:C | acceptor_gain | 1.0000 |
| 20:885326:C:CC | acceptor_gain | 1.0000 |
| 20:888314:CCA:C | donor_loss | 1.0000 |
| 20:888316:ACCT:A | donor_loss | 1.0000 |
| 20:888440:C:CC | acceptor_gain | 1.0000 |
| 20:888447:A:T | acceptor_gain | 1.0000 |
| 20:888453:C:CT | acceptor_gain | 1.0000 |
| 20:890209:TTAC:T | donor_loss | 1.0000 |
| 20:890212:CCT:C | donor_loss | 1.0000 |
| 20:890365:CTAG:C | acceptor_gain | 1.0000 |
| 20:890369:C:CC | acceptor_gain | 1.0000 |
| 20:915902:GTACC:G | donor_loss | 1.0000 |
| 20:915903:TA:T | donor_loss | 1.0000 |
| 20:915904:A:C | donor_loss | 1.0000 |
| 20:915905:CCTT:C | donor_gain | 1.0000 |
AlphaMissense
3308 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:874346:A:C | F430C | 0.996 |
| 20:874345:A:C | F430L | 0.995 |
| 20:874345:A:T | F430L | 0.995 |
| 20:874347:A:G | F430L | 0.995 |
| 20:878322:G:C | F353L | 0.995 |
| 20:878322:G:T | F353L | 0.995 |
| 20:878324:A:G | F353L | 0.995 |
| 20:879774:A:C | F342L | 0.995 |
| 20:879774:A:T | F342L | 0.995 |
| 20:879776:A:G | F342L | 0.995 |
| 20:879797:G:T | R335S | 0.995 |
| 20:873029:C:A | W481C | 0.994 |
| 20:873029:C:G | W481C | 0.994 |
| 20:873113:C:A | W453C | 0.994 |
| 20:873113:C:G | W453C | 0.994 |
| 20:874346:A:G | F430S | 0.994 |
| 20:873031:A:G | W481R | 0.993 |
| 20:873031:A:T | W481R | 0.993 |
| 20:879775:A:C | F342C | 0.993 |
| 20:873110:A:C | F454L | 0.992 |
| 20:873110:A:T | F454L | 0.992 |
| 20:873112:A:G | F454L | 0.992 |
| 20:873083:G:C | N463K | 0.991 |
| 20:873083:G:T | N463K | 0.991 |
| 20:873115:A:G | W453R | 0.991 |
| 20:873115:A:T | W453R | 0.991 |
| 20:874342:G:C | S431R | 0.991 |
| 20:874342:G:T | S431R | 0.991 |
| 20:874344:T:G | S431R | 0.991 |
| 20:878323:A:C | F353C | 0.991 |
dbSNP variants (sampled 300 via entrez): RS1000034916 (20:909610 T>G), RS1000065959 (20:907468 G>C), RS1000100866 (20:871723 G>A,C), RS1000148070 (20:907320 A>G), RS1000159103 (20:897593 T>C), RS1000323625 (20:876502 G>A), RS1000335033 (20:904826 T>C), RS1000362434 (20:892347 G>A), RS1000413301 (20:886518 G>A), RS1000423293 (20:914871 G>A,C), RS1000465265 (20:897775 C>A,T), RS1000500710 (20:875535 A>T), RS1000512088 (20:898761 C>T), RS1000513844 (20:897016 A>T), RS1000596865 (20:886863 T>C)
Disease associations
OMIM: gene MIM:603705 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005576_7 | Intracranial aneurysm | 3.000000e-06 |
| GCST006038_2 | Food allergy | 4.000000e-08 |
| GCST006039_2 | Peanut allergy | 2.000000e-07 |
| GCST006994_4 | Logical memory (immediate recall) in Alzheimer’s disease dementia | 5.000000e-07 |
| GCST010057_9 | Lung function | 2.000000e-06 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007016 | food allergy measurement |
| EFO:0007017 | peanut allergy measurement |
| EFO:0004874 | memory performance |
| EFO:0004312 | vital capacity |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aristolochic acid I | increases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| tobacco tar | decreases reaction, increases expression | 1 |
| diallyl disulfide | decreases reaction, increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| abrine | increases expression | 1 |
| Allergens | decreases expression | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Chelating Agents | increases expression, affects binding | 1 |
| Copper | affects binding, increases expression | 1 |
| Dactinomycin | affects cotreatment, increases expression | 1 |
| Diazinon | increases methylation | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Lipopolysaccharides | affects response to substance, increases expression, decreases expression | 1 |
| Nicotine | increases expression | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Zinc Sulfate | increases expression | 1 |
| Okadaic Acid | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): brain aneurysm