ANXA10
gene geneOn this page
Also known as ANX14
Summary
ANXA10 (annexin A10, HGNC:534) is a protein-coding gene on chromosome 4q32.3, encoding Annexin A10 (Q9UJ72).
This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. The function of this gene has not yet been determined.
Source: NCBI Gene 11199 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 53 total
- Druggable target: yes
- MANE Select transcript:
NM_007193
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:534 |
| Approved symbol | ANXA10 |
| Name | annexin A10 |
| Location | 4q32.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ANX14 |
| Ensembl gene | ENSG00000109511 |
| Ensembl biotype | protein_coding |
| OMIM | 608008 |
| Entrez | 11199 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 retained_intron, 1 protein_coding
ENST00000359299, ENST00000503003, ENST00000507278
RefSeq mRNA: 1 — MANE Select: NM_007193
NM_007193
CCDS: CCDS34096
Canonical transcript exons
ENST00000359299 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001015909 | 168165247 | 168165326 |
| ENSE00001015910 | 168128084 | 168128165 |
| ENSE00001015912 | 168164198 | 168164288 |
| ENSE00001015913 | 168162528 | 168162641 |
| ENSE00001015915 | 168139486 | 168139580 |
| ENSE00001399307 | 168092537 | 168092718 |
| ENSE00003483404 | 168177740 | 168177793 |
| ENSE00003489525 | 168187366 | 168187736 |
| ENSE00003575689 | 168179217 | 168179312 |
| ENSE00003598028 | 168184559 | 168184681 |
| ENSE00003600309 | 168181683 | 168181741 |
| ENSE00003639691 | 168177890 | 168177983 |
Expression profiles
Bgee: expression breadth ubiquitous, 124 present calls, max score 97.92.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.0959 / max 164.4678, expressed in 96 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 50483 | 0.7021 | 76 |
| 50490 | 0.1281 | 8 |
| 50484 | 0.1193 | 42 |
| 50489 | 0.0608 | 7 |
| 50491 | 0.0358 | 10 |
| 50485 | 0.0303 | 17 |
| 50486 | 0.0195 | 7 |
Top tissues by expression
267 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pylorus | UBERON:0001166 | 97.92 | gold quality |
| right lobe of liver | UBERON:0001114 | 95.12 | gold quality |
| pancreatic ductal cell | CL:0002079 | 93.67 | gold quality |
| liver | UBERON:0002107 | 93.09 | gold quality |
| cardia of stomach | UBERON:0001162 | 92.52 | gold quality |
| mucosa of stomach | UBERON:0001199 | 89.16 | gold quality |
| stomach | UBERON:0000945 | 89.06 | gold quality |
| body of stomach | UBERON:0001161 | 88.81 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 86.15 | silver quality |
| body of pancreas | UBERON:0001150 | 85.48 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 82.22 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 81.70 | gold quality |
| pancreas | UBERON:0001264 | 81.09 | gold quality |
| duodenum | UBERON:0002114 | 79.47 | gold quality |
| fundus of stomach | UBERON:0001160 | 78.64 | gold quality |
| islet of Langerhans | UBERON:0000006 | 76.56 | gold quality |
| urinary bladder | UBERON:0001255 | 75.39 | gold quality |
| gall bladder | UBERON:0002110 | 74.86 | gold quality |
| ileal mucosa | UBERON:0000331 | 62.76 | silver quality |
| stromal cell of endometrium | CL:0002255 | 61.86 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 60.76 | gold quality |
| right uterine tube | UBERON:0001302 | 57.73 | gold quality |
| oocyte | CL:0000023 | 56.89 | gold quality |
| tibialis anterior | UBERON:0001385 | 56.23 | silver quality |
| lower esophagus | UBERON:0013473 | 53.72 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 53.67 | gold quality |
| rectum | UBERON:0001052 | 52.75 | gold quality |
| buccal mucosa cell | CL:0002336 | 51.72 | gold quality |
| quadriceps femoris | UBERON:0001377 | 51.05 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 50.71 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8559 | yes | 364.21 |
| E-ANND-3 | yes | 10.46 |
| E-MTAB-7249 | yes | 6.13 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
29 targeting ANXA10, 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-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-8075 | 99.97 | 67.20 | 962 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-219A-5P | 99.91 | 73.36 | 735 |
| HSA-MIR-4782-3P | 99.88 | 73.31 | 735 |
| HSA-MIR-6766-3P | 99.88 | 73.38 | 732 |
| HSA-MIR-8067 | 99.86 | 69.59 | 2260 |
| HSA-MIR-2053 | 99.57 | 69.15 | 1635 |
| HSA-MIR-7159-3P | 99.51 | 70.17 | 1920 |
| HSA-MIR-504-3P | 99.30 | 67.18 | 1745 |
| HSA-MIR-3675-3P | 99.09 | 67.70 | 968 |
| HSA-MIR-5197-3P | 98.71 | 67.05 | 1905 |
| HSA-MIR-508-3P | 98.66 | 69.62 | 887 |
| HSA-MIR-6731-3P | 98.61 | 67.86 | 749 |
| HSA-MIR-302F | 98.44 | 69.02 | 1776 |
| HSA-MIR-218-2-3P | 98.08 | 67.21 | 601 |
| HSA-MIR-506-5P | 98.02 | 67.41 | 1065 |
| HSA-MIR-3920 | 97.75 | 69.02 | 1168 |
| HSA-MIR-4445-5P | 97.21 | 66.16 | 832 |
| HSA-MIR-216B-5P | 97.16 | 66.76 | 1126 |
| HSA-MIR-8069 | 97.05 | 66.79 | 718 |
| HSA-MIR-4662A-3P | 97.02 | 67.77 | 941 |
| HSA-MIR-6806-5P | 96.37 | 68.74 | 587 |
Literature-anchored findings (GeneRIF, showing 33)
- Reduced expression and homozygous deletion of annexin A10 is associated with gastric carcinoma. (PMID:19582876)
- ANXA10 was aberrantly regulated in gastric carcinoma and suggest that down-regulation of ANXA10 might be involved in gastric carcinogenesis. (PMID:20664964)
- ANXA10 protein expression is a novel marker of gastric differentiation, and is differentially expressed in intestinal and diffuse type gastric carcinoma, with opposite prognostic significance. (PMID:21175800)
- We conclude that ANXA10 may be a clinical relevant marker for predicting outcome in both early and advanced stages of bladder cancer. (PMID:21979422)
- ANXA10 is an indicator of cellular proliferation in OSCCs. Our results suggested that ANXA10 expression might indicate cellular proliferation and ANXA10 might be a potential therapeutic target for the development of new treatments for OSCCs. (PMID:23029062)
- The apoptosis rate in PGC-Fu-ANXA10 group was significantly higher than in PGC-Fu group. (PMID:23073794)
- Overexpression of annexin A10 increases their sensitivity to apoptosis and reduces colony formation. (PMID:23715859)
- Our study results indicate that the inclusion of ANXA10 in an immunohistochemical panel will be helpful in the differential diagnosis of adenocarcinoma of an unknown primary site. (PMID:24024557)
- immunohistochemistry for annexin A10 may be a useful marker to distinguish sporadic from Lynch syndrome-associated microsatellite-unstable colon cancer (PMID:24625416)
- ANXA10+ MSI-H colon carcinomas are characterized by serrated pathway features, including proximal location, female predominance, and high frequencies of CIMP-H status and MLH1 methylation. (PMID:24909058)
- Our results indicated that ANXA10 expression is implicated in gastric programming in serrated-pathway-associated colorectal carcinoma. (PMID:25081749)
- there is a correlation between high ANXA10 expression and serrated growth pattern in colorectal carcinoma (PMID:25395067)
- Annexin A10 expression is associated with poor clinical behavior and can be used a supportive surrogate marker of the serrated neoplasia pathway in invasive colorectal carcinomas. (PMID:26361422)
- Results show that ANXA1 and ANXA10 are highly expressed in pancreatic ductal adenocarcinoma and its metastases to the liver comparing to intrahepatic cholangiocellular carcinoma. (PMID:26644413)
- expression of ANXA10 was significantly correlated with the progression of pancreatic precursor lesions towards pancreatic adenocarcinoma (PMID:28369074)
- Annexin A10 and HES-1 Immunohistochemistry in Right-sided Traditional Serrated Adenomas Suggests an Origin From Sessile Serrated Adenoma. (PMID:30653033)
- that ANXA10 induced by the interaction with tumor-associated macrophages in the tumor microenvironment is associated with cell growth and poor prognosis in human esophageal squamous cell carcinomas tissues (PMID:30758105)
- ANXA10 was expressed by cells in the ovarian cancer cell lines. Patients with low expression and high expression of ANXA10 were 61.86% (73/118) and 38.14% (45/118), respectively. (PMID:31363077)
- ANXA10 was an independent prognostic biomarker of PHCCA and DCCA but not IHCCA. ANXA10 promoted the progression of PHCCA and facilitated metastasis by promoting the EMT process via the PLA2G4A/PGE2/STAT3 pathway. (PMID:31492557)
- Annexin A10 is involved in the induction of pancreatic duodenal homeobox1 in gastric cancer tissue, cells and organoids. (PMID:31789399)
- Annexin A10 Expression Is Associated With Poor Prognosis in Small Bowel Adenocarcinoma. (PMID:33788726)
- Knockdown of ANXA10 inhibits proliferation and promotes apoptosis of papillary thyroid carcinoma cells by down-regulating TSG101 thereby inactivating the MAPK/ERK signaling pathway. (PMID:34032966)
- ANXA10 promotes melanoma metastasis by suppressing E3 ligase TRIM41-directed PKD1 degradation. (PMID:34324862)
- The prognostic significance of annexin A family in glioblastoma. (PMID:34398393)
- High Annexin A10 expression is correlated with poor prognosis in pancreatic ductal adenocarcinoma. (PMID:34821375)
- Annexin A10 Expression as a Novel Prognostic Marker in Lung Adenocarcinoma. (PMID:35220218)
- Association of annexin A10 expression with poor prognosis of intrahepatic cholangiocarcinoma. (PMID:35227227)
- Transcriptomic Analysis of Annexin A10 and Chemosensitivity in Gastric Adenocarcinoma Cells. (PMID:35346989)
- ANXA10 Expression Is Inversely Associated with Tumor Stage, Grade, and TP53 Expression in Upper and Lower Urothelial Carcinoma. (PMID:35780773)
- GATA6 regulates expression of annexin A10 (ANXA10) associated with epithelial-mesenchymal transition of oral squamous cell carcinoma. (PMID:36265396)
- SOX2-Induced Linc-ROR Upregulation Inhibits Gastric Carcinoma Cell Proliferation and Metastasis Via the miR-580-3p/ANXA10 Pathway. (PMID:36451051)
- ANXA10 is a prognostic biomarker and suppressor of hepatocellular carcinoma: a bioinformatics analysis and experimental validation. (PMID:36709331)
- Strong Annexin A10 Expression Supports a Pancreatic Primary and Combined Annexin A10, Claudin 18, and SOX2 Expression Supports an Esophagogastric Origin in Carcinomas of Unknown Primary. (PMID:36730833)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | anxa14 | ENSDARG00000100104 |
| mus_musculus | Anxa10 | ENSMUSG00000031635 |
| rattus_norvegicus | Anxa10 | ENSRNOG00000014339 |
| drosophila_melanogaster | AnxB9 | FBGN0000083 |
| drosophila_melanogaster | AnxB11 | FBGN0030749 |
Paralogs (12): ANXA13 (ENSG00000104537), ANXA11 (ENSG00000122359), ANXA1 (ENSG00000135046), ANXA7 (ENSG00000138279), ANXA3 (ENSG00000138772), ANXA9 (ENSG00000143412), ANXA5 (ENSG00000164111), ANXA2 (ENSG00000182718), ANXA4 (ENSG00000196975), ANXA6 (ENSG00000197043), ANXA8L1 (ENSG00000264230), ANXA8 (ENSG00000265190)
Protein
Protein identifiers
Annexin A10 — Q9UJ72 (reviewed: Q9UJ72)
Alternative names: Annexin-10, Annexin-14
All UniProt accessions (1): Q9UJ72
UniProt curated annotations — full annotation on UniProt →
Similarity. Belongs to the annexin family.
RefSeq proteins (1): NP_009124* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001464 | Annexin | Family |
| IPR008156 | ANX10 | Family |
| IPR018252 | Annexin_repeat_CS | Conserved_site |
| IPR018502 | Annexin_repeat | Repeat |
| IPR037104 | Annexin_sf | Homologous_superfamily |
Pfam: PF00191
UniProt features (9 total): repeat 4, sequence conflict 3, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UJ72-F1 | 95.38 | 0.94 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 117 (showing top):
chr4q32, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, MORF_RAD51L3, BRUECKNER_TARGETS_OF_MIRLET7A3_DN, NKX61_01, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, CAIRO_HEPATOBLASTOMA_CLASSES_DN, MORF_CTSB, MORF_IL4, RIGGI_EWING_SARCOMA_PROGENITOR_DN, CAIRO_HEPATOBLASTOMA_DN, MORF_ATF2, TGGAAA_NFAT_Q4_01, TAATTA_CHX10_01, MORF_PAX7
GO Biological Process (0):
GO Molecular Function (4): phosphatidylserine binding (GO:0001786), calcium ion binding (GO:0005509), calcium-dependent phospholipid binding (GO:0005544), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), plasma membrane (GO:0005886), vesicle membrane (GO:0012506)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| phospholipid binding | 2 |
| anion binding | 1 |
| modified amino acid binding | 1 |
| metal ion binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| membrane | 1 |
| cell periphery | 1 |
| organelle membrane | 1 |
| vesicle | 1 |
Protein interactions and networks
STRING
736 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ANXA10 | UPK1B | O75841 | 620 |
| ANXA10 | CCDC14 | Q49A88 | 536 |
| ANXA10 | CTSE | P14091 | 506 |
| ANXA10 | TFF2 | Q03403 | 490 |
| ANXA10 | VSIG1 | Q86XK7 | 479 |
| ANXA10 | GEN1 | Q17RS7 | 415 |
| ANXA10 | MUC6 | Q6W4X9 | 412 |
| ANXA10 | TRAM2 | Q15035 | 401 |
| ANXA10 | CRH | P06850 | 399 |
| ANXA10 | LRRC32 | Q14392 | 387 |
| ANXA10 | MUC5AC | P98088 | 386 |
| ANXA10 | THTPA | Q9BU02 | 375 |
| ANXA10 | IKZF2 | Q9UKS7 | 357 |
| ANXA10 | IGF2 | P01344 | 354 |
| ANXA10 | SPOCK3 | Q9BQ16 | 353 |
IntAct
17 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EDC3 | ANXA10 | psi-mi:“MI:0915”(physical association) | 0.870 |
| ANXA10 | EDC3 | psi-mi:“MI:0915”(physical association) | 0.870 |
| BLVRB | ANXA10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EDC3 | ANXA10 | psi-mi:“MI:0915”(physical association) | 0.000 |
| BLVRB | ANXA10 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (19): EDC3 (Two-hybrid), EDC3 (Two-hybrid), ANXA10 (Affinity Capture-MS), ANXA10 (Affinity Capture-MS), CUL4A (Affinity Capture-Western), ANXA10 (Affinity Capture-Western), ANXA10 (Two-hybrid), ANXA10 (Two-hybrid), EDC3 (Two-hybrid), ANXA10 (Affinity Capture-MS), CUL4A (Affinity Capture-Western), ANXA10 (Affinity Capture-Western), PKD1 (Affinity Capture-Western), ANXA10 (Affinity Capture-Western), TSG101 (Affinity Capture-Western)
ESM2 similar proteins: A0A4X1T4U3, A2SW69, A5A6L7, A6H603, A6NMY6, C1L7Y4, O35640, O76027, O97529, P04272, P07355, P07356, P13928, P14950, P17785, P19620, P21671, P24551, P24801, P27006, P51074, P51901, P58107, P93157, Q07936, Q2Q1M6, Q3ZBE0, Q3ZC08, Q5R5A0, Q5VT79, Q66KB7, Q6NVG1, Q6TEQ7, Q86U10, Q86VI3, Q8MIR4, Q8R0W0, Q8SPR7, Q92040, Q92108
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
53 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 39 |
| Likely benign | 3 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1694 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:168128163:TTGG:T | donor_loss | 1.0000 |
| 4:168128164:TGGT:T | donor_loss | 1.0000 |
| 4:168128165:GGT:G | donor_loss | 1.0000 |
| 4:168128166:G:GG | donor_gain | 1.0000 |
| 4:168128166:GTA:G | donor_loss | 1.0000 |
| 4:168128167:T:A | donor_loss | 1.0000 |
| 4:168139481:TCCA:T | acceptor_loss | 1.0000 |
| 4:168139483:CAG:C | acceptor_loss | 1.0000 |
| 4:168139484:A:AG | acceptor_gain | 1.0000 |
| 4:168139484:AGACT:A | acceptor_gain | 1.0000 |
| 4:168139485:G:GC | acceptor_gain | 1.0000 |
| 4:168139485:GA:G | acceptor_gain | 1.0000 |
| 4:168139485:GAC:G | acceptor_gain | 1.0000 |
| 4:168139485:GACT:G | acceptor_gain | 1.0000 |
| 4:168139485:GACTG:G | acceptor_gain | 1.0000 |
| 4:168139576:GCCGG:G | donor_gain | 1.0000 |
| 4:168139579:GG:G | donor_gain | 1.0000 |
| 4:168139580:GG:G | donor_gain | 1.0000 |
| 4:168139581:G:A | donor_loss | 1.0000 |
| 4:168139581:G:GG | donor_gain | 1.0000 |
| 4:168162522:CCACA:C | acceptor_loss | 1.0000 |
| 4:168162523:CACAG:C | acceptor_loss | 1.0000 |
| 4:168162525:CAG:C | acceptor_loss | 1.0000 |
| 4:168162526:A:AG | acceptor_gain | 1.0000 |
| 4:168162526:A:C | acceptor_loss | 1.0000 |
| 4:168162526:AG:A | acceptor_gain | 1.0000 |
| 4:168162527:G:GC | acceptor_gain | 1.0000 |
| 4:168162527:GG:G | acceptor_gain | 1.0000 |
| 4:168162640:AGGT:A | donor_loss | 1.0000 |
| 4:168162641:GGTAG:G | donor_loss | 1.0000 |
AlphaMissense
2166 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:168139541:G:C | R52S | 0.989 |
| 4:168139541:G:T | R52S | 0.989 |
| 4:168162625:T:C | L98P | 0.987 |
| 4:168177788:G:C | A177P | 0.985 |
| 4:168184629:T:A | I285K | 0.984 |
| 4:168165310:T:C | L155P | 0.982 |
| 4:168184590:G:T | R272M | 0.981 |
| 4:168184620:T:C | L282P | 0.981 |
| 4:168162615:G:C | A95P | 0.979 |
| 4:168184605:G:T | R277I | 0.979 |
| 4:168179228:T:C | F214L | 0.978 |
| 4:168179230:T:A | F214L | 0.978 |
| 4:168179230:T:G | F214L | 0.978 |
| 4:168139540:G:C | R52T | 0.977 |
| 4:168177975:T:C | L207P | 0.977 |
| 4:168184607:A:C | S278R | 0.977 |
| 4:168184609:T:A | S278R | 0.977 |
| 4:168184609:T:G | S278R | 0.977 |
| 4:168162633:G:C | A101P | 0.976 |
| 4:168181725:T:C | L256S | 0.976 |
| 4:168184605:G:C | R277T | 0.976 |
| 4:168184611:A:T | E279V | 0.976 |
| 4:168164244:G:T | R119I | 0.975 |
| 4:168184629:T:G | I285R | 0.975 |
| 4:168165310:T:A | L155H | 0.974 |
| 4:168184606:A:C | R277S | 0.974 |
| 4:168184606:A:T | R277S | 0.974 |
| 4:168128114:T:C | F17L | 0.973 |
| 4:168128116:C:A | F17L | 0.973 |
| 4:168128116:C:G | F17L | 0.973 |
dbSNP variants (sampled 300 via entrez): RS1000065624 (4:168165067 T>A), RS1000071207 (4:168120167 A>C), RS1000073257 (4:168133741 A>G), RS1000106275 (4:168153732 T>C), RS1000107020 (4:168116617 A>G), RS1000120548 (4:168109425 A>C), RS1000137081 (4:168163521 C>T), RS1000207753 (4:168167599 A>G), RS10002305 (4:168127955 T>A,C), RS1000276086 (4:168113646 C>T), RS10002781 (4:168107356 C>A,G,T), RS1000290010 (4:168181304 T>A,C), RS1000294678 (4:168116016 A>T), RS1000321234 (4:168144954 T>G), RS1000388070 (4:168129353 T>A)
Disease associations
OMIM: gene MIM:608008 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002701_25 | Verbal declarative memory | 3.000000e-08 |
| GCST005024_96 | Pursuit maintenance gain | 4.000000e-06 |
| GCST008367_10 | Plasma anti-thyroglobulin and anti-thyroid peroxidase levels (bivariate analysis) | 4.000000e-06 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004874 | memory performance |
| EFO:0006805 | word list delayed recall measurement |
| EFO:0008433 | pursuit maintenance gain measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6196184 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
66 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Aflatoxin B1 | affects expression, decreases expression, decreases methylation | 3 |
| bisphenol A | affects cotreatment, decreases expression, affects methylation | 2 |
| sodium arsenite | decreases expression, increases expression | 2 |
| perfluorooctane sulfonic acid | decreases expression, increases expression | 2 |
| (+)-JQ1 compound | decreases expression, increases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| Benzo(a)pyrene | decreases expression | 2 |
| Tetrachlorodibenzodioxin | decreases reaction, increases expression, decreases expression | 2 |
| Thiram | increases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Zinc | affects cotreatment, affects expression, increases expression | 2 |
| Cadmium Chloride | increases expression | 2 |
| fluxapyroxad | increases expression | 1 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| ethoprop | increases expression | 1 |
| methyleugenol | decreases expression | 1 |
| propionaldehyde | increases expression | 1 |
| pirinixic acid | increases activity, affects binding, decreases expression | 1 |
| carbendazim | increases expression | 1 |
| lead acetate | increases expression | 1 |
| enilconazole | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| tobacco tar | decreases expression | 1 |
| cupric chloride | increases expression | 1 |
| perfluoropropionic acid | increases expression | 1 |
| iprodione | increases expression | 1 |
| prochloraz | increases expression | 1 |
| propiconazole | increases expression | 1 |
| pentanal | increases expression | 1 |
| flusilazole | increases expression | 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 |
|---|---|---|---|
| CHEMBL6106835 | Binding | Induction of ANXA10 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.