ANXA8
gene geneOn this page
Summary
ANXA8 (annexin A8, HGNC:546) is a protein-coding gene on chromosome 10q11.22, encoding Annexin A8 (P13928). This protein is an anticoagulant protein that acts as an indirect inhibitor of the thromboplastin-specific complex, which is involved in the blood coagulation cascade.
This gene encodes a member of the annexin family of evolutionarily conserved Ca2+ and phospholipid binding proteins. The encoded protein may function as an an anticoagulant that indirectly inhibits the thromboplastin-specific complex. Overexpression of this gene has been associated with acute myelocytic leukemia. A highly similar duplicated copy of this gene is found in close proximity on the long arm of chromosome 10.
Source: NCBI Gene 653145 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 12 total
- Druggable target: yes
- MANE Select transcript:
NM_001040084
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:546 |
| Approved symbol | ANXA8 |
| Name | annexin A8 |
| Location | 10q11.22 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000265190 |
| Ensembl biotype | protein_coding |
| OMIM | 602396 |
| Entrez | 653145 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 7 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000577813, ENST00000583448, ENST00000583874, ENST00000583911, ENST00000585281, ENST00000602274, ENST00000602877, ENST00000611843, ENST00000879794, ENST00000879795
RefSeq mRNA: 3 — MANE Select: NM_001040084
NM_001040084, NM_001271702, NM_001271703
CCDS: CCDS73121, CCDS73122, CCDS73123
Canonical transcript exons
ENST00000585281 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002686024 | 47467993 | 47468906 |
| ENSE00002694955 | 47477081 | 47477194 |
| ENSE00002708977 | 47476232 | 47476322 |
| ENSE00002715803 | 47483913 | 47484115 |
| ENSE00002719561 | 47475493 | 47475572 |
| ENSE00003466356 | 47473970 | 47474065 |
| ENSE00003478719 | 47478533 | 47478627 |
| ENSE00003520572 | 47471262 | 47471384 |
| ENSE00003529936 | 47474945 | 47475004 |
| ENSE00003624586 | 47479798 | 47479888 |
| ENSE00003678223 | 47474305 | 47474398 |
| ENSE00003681099 | 47472133 | 47472191 |
Expression profiles
Bgee: expression breadth ubiquitous, 123 present calls, max score 98.40.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.6086 / max 67.4512, expressed in 127 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 205850 | 0.4112 | 108 |
| 205849 | 0.1675 | 72 |
| 205851 | 0.0299 | 11 |
Top tissues by expression
132 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| skin of abdomen | UBERON:0001416 | 98.40 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 98.37 | gold quality |
| zone of skin | UBERON:0000014 | 97.74 | gold quality |
| esophagus mucosa | UBERON:0002469 | 97.73 | gold quality |
| skin of leg | UBERON:0001511 | 97.24 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 93.26 | gold quality |
| placenta | UBERON:0001987 | 91.90 | gold quality |
| vagina | UBERON:0000996 | 89.44 | gold quality |
| omental fat pad | UBERON:0010414 | 86.80 | gold quality |
| right lung | UBERON:0002167 | 85.72 | gold quality |
| minor salivary gland | UBERON:0001830 | 84.48 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 83.14 | gold quality |
| tonsil | UBERON:0002372 | 80.95 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 80.44 | gold quality |
| urinary bladder | UBERON:0001255 | 78.41 | gold quality |
| lung | UBERON:0002048 | 77.51 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 76.50 | gold quality |
| esophagus | UBERON:0001043 | 76.18 | gold quality |
| prostate gland | UBERON:0002367 | 75.39 | gold quality |
| adipose tissue | UBERON:0001013 | 67.11 | gold quality |
| left uterine tube | UBERON:0001303 | 66.18 | gold quality |
| uterine cervix | UBERON:0000002 | 66.16 | gold quality |
| ectocervix | UBERON:0012249 | 65.83 | gold quality |
| fallopian tube | UBERON:0003889 | 65.38 | gold quality |
| right lobe of liver | UBERON:0001114 | 65.01 | gold quality |
| right atrium auricular region | UBERON:0006631 | 64.38 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 64.20 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 62.87 | gold quality |
| granulocyte | CL:0000094 | 62.60 | gold quality |
| liver | UBERON:0002107 | 61.91 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-86618 | yes | 1129.63 |
| E-CURD-114 | yes | 67.84 |
| E-GEOD-130148 | yes | 11.73 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): FOXO4, RARA
miRNA regulators (miRDB)
32 targeting ANXA8, 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-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-875-3P | 99.63 | 69.47 | 2548 |
| HSA-MIR-5584-5P | 99.49 | 68.22 | 2814 |
| HSA-MIR-766-5P | 99.47 | 67.91 | 2225 |
| HSA-MIR-4505 | 99.27 | 67.81 | 2678 |
| HSA-MIR-5787 | 99.22 | 67.86 | 2628 |
| HSA-MIR-4426 | 99.17 | 66.74 | 1949 |
| HSA-MIR-7160-5P | 99.11 | 67.17 | 2207 |
| HSA-MIR-4254 | 99.11 | 65.15 | 1315 |
| HSA-MIR-6737-3P | 98.95 | 68.56 | 1577 |
| HSA-MIR-7157-3P | 98.95 | 68.70 | 1582 |
| HSA-MIR-219A-1-3P | 98.91 | 67.87 | 639 |
| HSA-MIR-936 | 98.87 | 70.51 | 1124 |
| HSA-MIR-6889-3P | 98.84 | 67.35 | 1198 |
| HSA-MIR-4477A | 98.83 | 69.75 | 2952 |
| HSA-MIR-222-5P | 98.75 | 69.17 | 1242 |
| HSA-MIR-1178-3P | 98.57 | 67.09 | 890 |
| HSA-MIR-4662B | 98.33 | 66.37 | 1163 |
| HSA-MIR-4647 | 98.30 | 66.41 | 1139 |
| HSA-MIR-3130-5P | 98.14 | 66.00 | 711 |
| HSA-MIR-3661 | 97.83 | 67.30 | 705 |
| HSA-MIR-6728-5P | 97.79 | 66.33 | 891 |
| HSA-MIR-6787-3P | 97.75 | 66.17 | 1233 |
| HSA-MIR-631 | 97.05 | 66.93 | 602 |
| HSA-MIR-3189-3P | 96.80 | 66.34 | 896 |
| HSA-MIR-342-3P | 96.44 | 67.48 | 1344 |
Literature-anchored findings (GeneRIF, showing 15)
- Annexin A8 is involved in mouse mammary gland involution and progression of human breast cancer (PMID:16203777)
- binds Ca2+-dependently and with high specificity to phosphatidylinositol (4,5)-bisphosphate (PtdIns(4,5)P2) and is also capable of interacting with F-actin (PMID:16638567)
- Data suggest that defective transport through the late endocytic pathway and imbalanced signaling in the absence of annexin A8 results from disturbed association of late endosomal membranes with actin and impaired endosome motility. (PMID:18923148)
- Define a distinct bone-dependent genetic program associated with terminal osteoclast differentiation and identified Anxa8 as a gene strongly induced late in osteoclast differentiation, regulating formation of the cell’s characteristic actin ring. (PMID:21344395)
- High ANXA8 expression is associated with pancreatic cancer. (PMID:23001853)
- Annexin A8 controls leukocyte recruitment to activated endothelial cells via cell surface delivery of CD63. (PMID:24769558)
- Increased annexin A8 expression is associated with poor prognosis in early-stage pancreatic cancer. (PMID:25268673)
- High ANXA8 gene expression is associated with lymph node metastasis in oral squamous cell carcinoma. (PMID:26700817)
- Annexins A2 and A8 in endothelial cell exocytosis and the control of vascular homeostasis (PMID:27451994)
- We conclude that AnxA8 affects CD63/VEGFR2/beta1 integrin complex formation, leading to hyperactivation of the VEGF-A signal transduction pathway, and severely disturbed VEGF-A-driven angiogenic sprouting. (PMID:28060564)
- Data show that down-regulation of AnxA8 is both necessary and sufficient for neuronal trans-differentiation of retinal pigment epithelial (RPE) cells and reveal an essential role for AnxA8 as a key regulator of RPE phenotype. (PMID:28680125)
- These findings identify Anxa8 as a regulator of late endosomes/lysosomes cholesterol balance. (PMID:29306076)
- ANXA8 was significantly highly expressed in ovarian cancer, and high ANXA8 expression was significantly correlated with poor prognosis. (PMID:31474227)
- [ANXA8 Regulates Proliferation of Human Non-Small Lung Cancer Cells A549 via EGFR-AKT-mTOR Signaling Pathway]. (PMID:34671007)
- Potential prognostic and therapeutic value of ANXA8 in renal cell carcinoma: based on the comprehensive analysis of annexins family. (PMID:37464398)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | anxa13l | ENSDARG00000013613 |
| danio_rerio | anxa13 | ENSDARG00000013976 |
| danio_rerio | anxa14 | ENSDARG00000100104 |
| mus_musculus | Anxa8 | ENSMUSG00000021950 |
| rattus_norvegicus | Anxa8 | ENSRNOG00000060949 |
| drosophila_melanogaster | AnxB9 | FBGN0000083 |
| drosophila_melanogaster | AnxB11 | FBGN0030749 |
Paralogs (12): ANXA13 (ENSG00000104537), ANXA10 (ENSG00000109511), ANXA11 (ENSG00000122359), ANXA1 (ENSG00000135046), ANXA7 (ENSG00000138279), ANXA3 (ENSG00000138772), ANXA9 (ENSG00000143412), ANXA5 (ENSG00000164111), ANXA2 (ENSG00000182718), ANXA4 (ENSG00000196975), ANXA6 (ENSG00000197043), ANXA8L1 (ENSG00000264230)
Protein
Protein identifiers
Annexin A8 — P13928 (reviewed: P13928)
Alternative names: Annexin VIII, Annexin-8, Vascular anticoagulant-beta
All UniProt accessions (4): A0A075B748, A0A075B765, A0A087WTN9, P13928
UniProt curated annotations — full annotation on UniProt →
Function. This protein is an anticoagulant protein that acts as an indirect inhibitor of the thromboplastin-specific complex, which is involved in the blood coagulation cascade.
Domain organisation. A pair of annexin repeats may form one binding site for calcium and phospholipid.
Similarity. Belongs to the annexin family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P13928-1 | 1 | yes |
| P13928-2 | 2 | |
| P13928-3 | 3 |
RefSeq proteins (3): NP_001035173, NP_001258631, NP_001258632 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001464 | Annexin | Family |
| IPR009115 | ANX8 | Family |
| IPR018252 | Annexin_repeat_CS | Conserved_site |
| IPR018502 | Annexin_repeat | Repeat |
| IPR037104 | Annexin_sf | Homologous_superfamily |
Pfam: PF00191
UniProt features (45 total): helix 20, sequence conflict 5, strand 5, repeat 4, binding site 4, splice variant 3, sequence variant 2, chain 1, turn 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1W3W | X-RAY DIFFRACTION | 1.99 |
| 1W45 | X-RAY DIFFRACTION | 2.51 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P13928-F1 | 94.23 | 0.90 |
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 (4): 266; 268; 270; 310
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 141 (showing top):
VERHAAK_AML_WITH_NPM1_MUTATED_DN, KOBAYASHI_EGFR_SIGNALING_24HR_UP, GOBP_ENDOSOME_ORGANIZATION, JAEGER_METASTASIS_DN, GOBP_VESICLE_ORGANIZATION, GCANCTGNY_MYOD_Q6, AP4_Q6, GOBP_VESICLE_MEDIATED_TRANSPORT, CAGCTG_AP4_Q5, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, GOBP_WOUND_HEALING, RICKMAN_METASTASIS_DN, AML_Q6, OCT1_06, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION
GO Biological Process (4): endosome organization (GO:0007032), blood coagulation (GO:0007596), endosomal transport (GO:0016197), hemostasis (GO:0007599)
GO Molecular Function (10): phosphatidylserine binding (GO:0001786), calcium ion binding (GO:0005509), calcium-dependent phospholipid binding (GO:0005544), phosphatidylinositol-4,5-bisphosphate binding (GO:0005546), phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547), phospholipase A2 inhibitor activity (GO:0019834), phosphatidylinositol-3,4-bisphosphate binding (GO:0043325), actin filament binding (GO:0051015), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (7): cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), vesicle membrane (GO:0012506), extracellular matrix (GO:0031012), late endosome membrane (GO:0031902), sarcolemma (GO:0042383)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| phospholipid binding | 2 |
| anion binding | 2 |
| phosphatidylinositol phosphate binding | 2 |
| phosphatidylinositol bisphosphate binding | 2 |
| cellular anatomical structure | 2 |
| endomembrane system organization | 1 |
| vesicle organization | 1 |
| hemostasis | 1 |
| wound healing | 1 |
| coagulation | 1 |
| vesicle-mediated transport | 1 |
| intracellular transport | 1 |
| regulation of body fluid levels | 1 |
| modified amino acid binding | 1 |
| metal ion binding | 1 |
| A2-type glycerophospholipase activity | 1 |
| phospholipase inhibitor activity | 1 |
| actin binding | 1 |
| protein-containing complex binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| organelle membrane | 1 |
| vesicle | 1 |
| external encapsulating structure | 1 |
| late endosome | 1 |
| endosome membrane | 1 |
| plasma membrane | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
113 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ANXA8 | ACTA1 | psi-mi:“MI:0915”(physical association) | 0.590 |
| DR1 | ANXA8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ANXA8 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| GTF2B | ANXA8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ANXA8 | HSPB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ANXA8 | NEFL | psi-mi:“MI:0915”(physical association) | 0.560 |
| ANXA8 | PEX1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ANXA8 | PMP22 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ANXA8 | PRPS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| WFS1 | ANXA8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DNALI1 | ANXA8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BAG6 | ANXA8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KLF11 | ANXA8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GTF3C3 | ANXA8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KIF1B | ANXA8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF11 | ANXA8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| COL26A1 | ANXA8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SOD1 | ANXA8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ANXA8 | ATXN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ANXA8 | TARDBP | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (72): ANXA8 (Affinity Capture-MS), ACTA1 (Affinity Capture-MS), ACTA1 (Affinity Capture-MS), ANXA8L1 (Affinity Capture-MS), ANXA8 (Affinity Capture-MS), ANXA8 (Affinity Capture-MS), ANXA8 (Affinity Capture-MS), ANXA8 (Affinity Capture-MS), ANXA8L1 (Affinity Capture-RNA), ANXA8L1 (Proximity Label-MS), ANXA8 (Affinity Capture-MS), ANXA8 (Affinity Capture-MS), ANXA8 (Affinity Capture-MS), ANXA8 (Affinity Capture-MS), ANXA8 (Affinity Capture-MS)
ESM2 similar proteins: A2SW69, A5A6L7, A6NMY6, O35639, O35640, O97529, P04272, P07355, P07356, P08132, P08758, P09525, P12429, P13214, P13928, P14668, P14669, P14824, P14950, P17153, P17785, P19620, P22464, P24551, P24801, P26256, P27006, P27216, P48036, P50994, P51074, P55260, P70075, P81287, P93157, P97429, Q07936, Q29471, Q2Q1M6, Q3SWX7
Diamond homologs: A2SW69, A5A6L7, A5A6M2, A6NMY6, C0HJG9, C1L7Y4, C4QH88, O35639, O35640, O76027, O97529, P04083, P04272, P07150, P07355, P07356, P08132, P08133, P08758, P09525, P10107, P12429, P13214, P13928, P14087, P14668, P14669, P14824, P14950, P17153, P17785, P19619, P19620, P20072, P20073, P22464, P22465, P24551, P24639, P24801
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
12 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 3 |
| Benign | 8 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2570 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:47474064:G:GG | acceptor_gain | 1.0000 |
| 10:47474065:A:AG | acceptor_gain | 1.0000 |
| 10:47475429:G:GT | donor_gain | 1.0000 |
| 10:47475469:G:GT | donor_gain | 1.0000 |
| 10:47476005:G:T | donor_gain | 1.0000 |
| 10:47478539:T:G | donor_gain | 1.0000 |
| 10:47478540:G:GG | donor_gain | 1.0000 |
| 10:47478545:GC:G | donor_gain | 1.0000 |
| 10:47483909:T:G | donor_loss | 1.0000 |
| 10:47483910:G:GA | donor_loss | 1.0000 |
| 10:47483911:GG:G | donor_gain | 1.0000 |
| 10:47483911:GGT:G | donor_loss | 1.0000 |
| 10:47483912:GG:G | donor_gain | 1.0000 |
| 10:47483912:GGGT:G | donor_loss | 1.0000 |
| 10:47483913:TGGG:T | donor_loss | 1.0000 |
| 10:47468774:G:GT | donor_gain | 0.9900 |
| 10:47472190:G:GG | acceptor_gain | 0.9900 |
| 10:47472190:GT:G | acceptor_gain | 0.9900 |
| 10:47472191:A:AG | acceptor_gain | 0.9900 |
| 10:47474064:GT:G | acceptor_gain | 0.9900 |
| 10:47474941:T:G | donor_loss | 0.9900 |
| 10:47474942:G:GA | donor_loss | 0.9900 |
| 10:47474944:AGGTG:A | donor_loss | 0.9900 |
| 10:47474945:CAGG:C | donor_loss | 0.9900 |
| 10:47474945:CAGGT:C | donor_loss | 0.9900 |
| 10:47474946:ACAG:A | donor_loss | 0.9900 |
| 10:47474946:ACAGG:A | donor_loss | 0.9900 |
| 10:47475003:GGGCA:G | acceptor_gain | 0.9900 |
| 10:47475453:G:GT | donor_gain | 0.9900 |
| 10:47475457:TTTGG:T | donor_gain | 0.9900 |
AlphaMissense
2187 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:47477097:A:G | L102P | 0.997 |
| 10:47477089:C:G | A105P | 0.995 |
| 10:47478573:C:G | R56P | 0.995 |
| 10:47474394:A:G | L186P | 0.993 |
| 10:47478551:G:C | F63L | 0.993 |
| 10:47478551:G:T | F63L | 0.993 |
| 10:47478553:A:G | F63L | 0.993 |
| 10:47471301:G:C | F295L | 0.992 |
| 10:47471301:G:T | F295L | 0.992 |
| 10:47471303:A:G | F295L | 0.992 |
| 10:47474017:A:T | I232N | 0.992 |
| 10:47474313:A:G | L213P | 0.992 |
| 10:47474950:C:G | A183P | 0.992 |
| 10:47474349:A:G | F201S | 0.991 |
| 10:47474386:C:G | A189P | 0.991 |
| 10:47477107:C:G | A99P | 0.991 |
| 10:47474017:A:C | I232S | 0.990 |
| 10:47476276:C:G | R123P | 0.990 |
| 10:47477106:G:T | A99D | 0.990 |
| 10:47477178:A:G | L75S | 0.990 |
| 10:47471337:C:A | R283S | 0.989 |
| 10:47471337:C:G | R283S | 0.989 |
| 10:47471344:A:T | V281D | 0.989 |
| 10:47473985:C:G | A243P | 0.989 |
| 10:47474348:G:C | F201L | 0.989 |
| 10:47474348:G:T | F201L | 0.989 |
| 10:47474350:A:G | F201L | 0.989 |
| 10:47474394:A:T | L186Q | 0.989 |
| 10:47475509:A:G | L159P | 0.989 |
| 10:47477097:A:T | L102Q | 0.989 |
dbSNP variants (sampled 300 via entrez): RS1009474 (10:47589556 G>A,C,T), RS10219043 (10:47896818 G>A), RS1028563248 (10:47988908 G>A,T), RS1045723 (10:47529706 C>A,T), RS10466322 (10:47901060 G>A), RS1046757 (10:47537607 T>C), RS1047435 (10:47502436 A>C,G,T), RS1047447 (10:47502343 T>C), RS1047466 (10:47502248 T>C,G), RS1047615 (10:47501918 A>G), RS1047621 (10:47501913 T>C,G), RS1047630 (10:47501906 T>C), RS1048157 (10:47922884 T>C), RS1048158 (10:47922935 T>C), RS1053559 (10:47731043 T>C,G)
Disease associations
OMIM: gene MIM:602396 | 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 |
|---|---|---|
| GCST010002_287 | Refractive error | 2.000000e-49 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6196069 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Smoke | decreases expression, increases abundance | 3 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Particulate Matter | decreases expression, increases abundance, affects cotreatment, increases expression | 2 |
| sulforaphane | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| doxifluridine | decreases response to substance | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment, decreases expression | 1 |
| isobutyl alcohol | increases abundance, increases expression, affects cotreatment | 1 |
| S 1 (combination) | decreases response to substance | 1 |
| chloropicrin | increases expression | 1 |
| bisphenol S | affects expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Ethanol | increases expression, affects cotreatment, increases abundance | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Cytarabine | decreases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Gasoline | affects cotreatment, increases abundance, increases expression | 1 |
| Lipopolysaccharides | increases expression, affects cotreatment, decreases expression, affects response to substance | 1 |
| Manganese | affects cotreatment, decreases expression, increases abundance | 1 |
| Penicillin G | decreases expression | 1 |
| Phenobarbital | affects expression | 1 |
| Polycyclic Aromatic Hydrocarbons | increases expression, affects cotreatment, increases abundance | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| Tretinoin | decreases expression | 1 |
| Triclosan | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| 1-Methyl-3-isobutylxanthine | decreases expression, affects cotreatment | 1 |
ChEMBL screening assays
6 unique, capped per target: 6 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL6106833 | Binding | Induction of ANXA8 degradation in human MDA-MB-231 cells at 0.5 to 6 uM incubated for 24 hrs by Western blot analysis relative to control | Discovery of a Novel 1,4-Benzodiazepine Derivative as a Highly Selective ANXA3 Degrader for the Treatment of Triple-Negative Breast Cancer. — J Med Chem |
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.