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ANXA3

gene
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Summary

ANXA3 (annexin A3, HGNC:541) is a protein-coding gene on chromosome 4q21.21, encoding Annexin A3 (P12429). Inhibitor of phospholipase A2, also possesses anti-coagulant properties.

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. This protein functions in the inhibition of phopholipase A2 and cleavage of inositol 1,2-cyclic phosphate to form inositol 1-phosphate. This protein may also play a role in anti-coagulation.

Source: NCBI Gene 306 — RefSeq curated summary.

At a glance

  • GWAS associations: 8
  • Clinical variants (ClinVar): 83 total — 1 pathogenic
  • Druggable target: yes
  • MANE Select transcript: NM_005139

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:541
Approved symbolANXA3
Nameannexin A3
Location4q21.21
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000138772
Ensembl biotypeprotein_coding
OMIM106490
Entrez306

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 21 protein_coding, 3 retained_intron

ENST00000264908, ENST00000503570, ENST00000503776, ENST00000505805, ENST00000508214, ENST00000510502, ENST00000512373, ENST00000512542, ENST00000512884, ENST00000514171, ENST00000904771, ENST00000904772, ENST00000904773, ENST00000904774, ENST00000904775, ENST00000904776, ENST00000904777, ENST00000927505, ENST00000927506, ENST00000927507, ENST00000943165, ENST00000943166, ENST00000943167, ENST00000943168

RefSeq mRNA: 1 — MANE Select: NM_005139 NM_005139

CCDS: CCDS3584

Canonical transcript exons

ENST00000264908 — 13 exons

ExonStartEnd
ENSE000007261157858217778582290
ENSE000007261427859731978597414
ENSE000009356747859154478591623
ENSE000009356757859538178595437
ENSE000020244417855177078551859
ENSE000020572767861005678610447
ENSE000035019387860151078601568
ENSE000035537147860427778604399
ENSE000035649257857902778579121
ENSE000035687997855443678554488
ENSE000035916977857318078573267
ENSE000037896697858626078586350
ENSE000037898037859579478595887

Expression profiles

Bgee: expression breadth ubiquitous, 264 present calls, max score 98.82.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.9443 / max 2456.9232, expressed in 1178 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter IDTPM avgSamples expressed
4844432.54271163
484450.7860300
484430.4882283
484470.070218
484460.057218

Top tissues by expression

285 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
right lungUBERON:000216798.82gold quality
germinal epithelium of ovaryUBERON:000130498.09gold quality
bone marrowUBERON:000237198.00gold quality
upper lobe of left lungUBERON:000895297.82gold quality
bone marrow cellCL:000209297.79gold quality
minor salivary glandUBERON:000183097.78gold quality
upper lobe of lungUBERON:000894897.58gold quality
endometrium epitheliumUBERON:000481197.46gold quality
left lobe of thyroid glandUBERON:000112097.32gold quality
trabecular bone tissueUBERON:000248397.23gold quality
saliva-secreting glandUBERON:000104497.18gold quality
right lobe of thyroid glandUBERON:000111997.15gold quality
lower esophagus muscularis layerUBERON:003583396.90gold quality
lower esophagusUBERON:001347396.89gold quality
body of stomachUBERON:000116196.81gold quality
thyroid glandUBERON:000204696.75gold quality
lower esophagus mucosaUBERON:003583496.70gold quality
lungUBERON:000204896.30gold quality
esophagusUBERON:000104396.03gold quality
apex of heartUBERON:000209896.02gold quality
mouth mucosaUBERON:000372995.70gold quality
esophagus squamous epitheliumUBERON:000692095.61gold quality
esophagus mucosaUBERON:000246995.56gold quality
stomachUBERON:000094595.31gold quality
omental fat padUBERON:001041495.19gold quality
peritoneumUBERON:000235895.13gold quality
islet of LangerhansUBERON:000000694.93gold quality
amniotic fluidUBERON:000017394.92gold quality
palpebral conjunctivaUBERON:000181294.74gold quality
adipose tissue of abdominal regionUBERON:000780894.64gold quality

Single-cell (SCXA)

Detected in 10 experiment(s), a significant marker in 10.

ExperimentMarker?Max mean expression
E-MTAB-9801yes1362.02
E-MTAB-5061yes609.44
E-GEOD-81547yes24.71
E-HCAD-10yes20.60
E-CURD-114yes19.90
E-MTAB-9388yes13.04
E-HCAD-1yes12.79
E-GEOD-130148yes9.07
E-ENAD-27yes6.13
E-ANND-3no0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

TargetRegulation
CASP3Repression

miRNA regulators (miRDB)

32 targeting ANXA3, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-340-5P100.0072.504437
HSA-MIR-318599.9968.121959
HSA-MIR-569699.9872.364487
HSA-MIR-6809-3P99.9171.453814
HSA-MIR-10523-5P99.9169.222038
HSA-MIR-4753-3P99.9071.033786
HSA-MIR-221-3P99.8671.561329
HSA-MIR-222-3P99.8671.351337
HSA-MIR-579-3P99.8671.663628
HSA-MIR-664B-3P99.8471.653590
HSA-MIR-7156-5P99.6468.811369
HSA-MIR-488-3P99.6168.791731
HSA-MIR-1252-3P99.5567.712862
HSA-MIR-143-3P99.4969.051457
HSA-MIR-477099.4969.091451
HSA-MIR-1213199.4868.721673
HSA-MIR-427399.4567.931206
HSA-MIR-520F-5P99.3470.401632
HSA-MIR-124499.3368.38832
HSA-MIR-608899.2968.451284
HSA-MIR-452899.1869.771936
HSA-MIR-125399.1267.081688
HSA-MIR-6770-5P98.9766.761853
HSA-MIR-211798.4867.971307
HSA-MIR-4708-5P97.7767.82831
HSA-MIR-495-5P97.6268.28682
HSA-MIR-55897.5067.16977
HSA-MIR-453597.2765.17469
HSA-MIR-127096.9466.65931
HSA-MIR-62096.9466.79888

Literature-anchored findings (GeneRIF, showing 40)

  • These findings define a miR-306-abrupt regulatory axis that controls wing and haltere size (PMID:31112748)
  • ANXA3 is a novel angiogenic factor that induces vascular endothelial growth factor production through the hypoxia-inducible factor-1 pathway (PMID:16236264)
  • Annexin A3 could be a target for therapeutic intervention and may also serve as a biomarker for drug resistance in ovarian cancer patients. (PMID:20103635)
  • two spliced isoforms of Annexin A3 are expressed differently in human renal cortex and renal-cell carcinoma (PMID:20167856)
  • AnnexinA3 plays an important role in the initiation and progression of human gallbladder cancer. (PMID:21055154)
  • results suggest that annexin-1, annexin-2, and annexin-3 are identified as potential biomarkers associated with lymph node metastasis in lung adenocarcinoma (PMID:21132403)
  • Decreased expression of ANXA3 in papillary thyroid cancer supports the idea that ANXA3 may be an effective marker of microcarcinoma, and a negative predictor of papillary thyroid cancer progression. (PMID:21137070)
  • annexin A3 secretion may be associated with exocytosis and the release of exosomes (PMID:21435174)
  • the association of multi-drug resistance with ANXA3, one of the highly expressed proteins in BEL7402/5-FU-resistant hepatoma cell line, was verified (PMID:22189913)
  • The expression change of Anxa3 can be utilized as a potential indicator for the development, invasion, metastasis and drug resistance of tumors. (PMID:23011854)
  • Low ANXA3 expression is associated with radioresistance in nasopharyngeal carcinoma. (PMID:23464856)
  • Annexin A3 expression correlates with tumor size and lymph node metastasis.Annexin A3 might be regulated apoptosis by affecting Bcl-2/Bax balance.Annexin A3 was an independent prognostic factor in breast cancer. (PMID:23631820)
  • Findings reveal that ANXA3 might play an important role in hepatocellular carcinoma progression and chemoresistance. (PMID:24375474)
  • Expression of annexin A3 was increased in gastric cancer compared with that in normal gastric tissues. Annexin A3 expression was significantly associated with tumor volume and TNM stage. (PMID:24815437)
  • Annexin A3 was upregulated in gastric cancer cells. Deletion of endogenous Annexin A3 significantly inhibited gastric cancer cell proliferation, migration, and invasion. (PMID:24824926)
  • Urinary calreticulin, annexin A2, and annexin A3 are very likely a panel of biomarkers with potential value for upper tract urothelial carcinoma diagnosis. (PMID:24884814)
  • Two different antigenic variants of ANXA3 are present in post-DRE urines and their clinical significance for diagnosis of prostate cancer should be further investigated. (PMID:24954692)
  • findings suggest that ANXA3 plays a role in HCC CSC/CIC maintenance, and that ANXA3 may represent a potential CSC/CIC-specific therapeutic target for improving the treatment of HCC. (PMID:25267273)
  • ANX A3 has roles as a mammary biomarker, regulator and therapeutic target in breast cancer (PMID:26093083)
  • Our results suggest that ANXA3 can serve as a novel diagnostic biomarker and that the inhibition of ANXA3 may be a viable therapeutic option for the treatment of CD133+ liver-CSC-driven HCC. (PMID:26095609)
  • These results suggest that the iEA index or a combination of polymorphisms in EGFR and ANXA3 may serve as predictive factors of drug response, and therefore could be useful for optimal selection of chemotherapy regimens. (PMID:26475168)
  • Results identified potential variant in ANXA3 gene [chr4, c.C820T(p.R274*)] in a large family with an unknown equinus deformity, which could lead to a three-dimensional conformational change. (PMID:27475959)
  • we identified ANXA3 as a regulator of hepatitis C virus maturation and egress (PMID:27653686)
  • ANXA3 role in the proliferation and invasion of breast cancer cells. (PMID:27878264)
  • ANXA3 plays important roles in gastric cancer carcinogenesis and metastasis. (PMID:27894078)
  • Anxa3 knockdown inhibited the growth, migration, invasion, and metastasis of lung adenocarcinoma. (PMID:27995049)
  • The findings implicate the expression of ANXA3 with the natural progression of breast cancer and associate it with increased lymphatic metastasis. The study validates the use of ANXA3 as a potential prognosis biomarker for breast cancer. (PMID:28497041)
  • ANXA3 levels in urine show clinically significant correlation with real tumor volumes. (PMID:28703915)
  • Levels of Annexin A3 (ANXA3) expression are higher in the basal subtype of breast cancer cells. ANXA3 silencing inhibits cell proliferation, invasion across transwell membranes, and wound-healing and colony forming abilities. Expression of ANXA3 is closely correlated with tumor size, with higher ANXA3 expression associated with reduced disease-free survival in breast cancer patients. (PMID:29217453)
  • The down-regulation of Annexin A3 by siRNA inhibited the invasion and epithelial-mesenchymal transition of colorectal cancer cells through the up-regulation of p53. (PMID:29224019)
  • This study described the role and mechanisms of ANXA3 in regulating breast cancer stem cells and breast cancer growth and metastasis. (PMID:29374148)
  • The expression of ANXA3 might play a crucial role in promoting the occurrence. (PMID:30003741)
  • Down-regulation of ANXA3 or up-regulation of miR-340-5p inhibits colorectal cancer cell proliferation, migration and invasion. (PMID:30070320)
  • High serum ANXA3 levels are associated with Hepatocellular Carcinoma. (PMID:30519762)
  • Results show that cancer-associated fibroblasts (CAF) expressed higher level of ANXA3 than normal fibroblasts (NF), and CAF-conditioned medium incubation increased the ANXA3 level in lung cancer cells. CAF potentiated chemoresistance of lung cancer cells through a novel ANXA3/JNK pathway both in vitro and in vivo. (PMID:30868675)
  • Annexin A3 depletion overcomes resistance to oxaliplatin in colorectal cancer via the MAPK signaling pathway. (PMID:30998268)
  • Compared with CEF regimen, NAC with TEC regimen can improve the clinical and pathological effectiveness rate, inhibit the expression of ANXA3, and improve the prognosis of patients, thus having a certain application prospect in NAC (PMID:31128000)
  • ANXA3 is highly expressed in the osteosarcoma cell lines HOS and U2OS. In addition, downregulation of ANXA3 expression in HOS and U2OS cells could increase apoptotic ability. (PMID:31524248)
  • ANXA3 deletion inhibits the resistance of lung cancer cells to oxaliplatin. (PMID:32329851)
  • The H2BG53D oncohistone directly upregulates ANXA3 transcription and enhances cell migration in pancreatic ductal adenocarcinoma. (PMID:32606294)

Cross-species orthologs

6 orthologs

OrganismSymbolGene ID
danio_rerioanxa3aENSDARG00000009196
danio_rerioanxa3bENSDARG00000044254
mus_musculusAnxa3ENSMUSG00000029484
rattus_norvegicusAnxa3ENSRNOG00000002045
drosophila_melanogasterAnxB9FBGN0000083
drosophila_melanogasterAnxB11FBGN0030749

Paralogs (12): ANXA13 (ENSG00000104537), ANXA10 (ENSG00000109511), ANXA11 (ENSG00000122359), ANXA1 (ENSG00000135046), ANXA7 (ENSG00000138279), ANXA9 (ENSG00000143412), ANXA5 (ENSG00000164111), ANXA2 (ENSG00000182718), ANXA4 (ENSG00000196975), ANXA6 (ENSG00000197043), ANXA8L1 (ENSG00000264230), ANXA8 (ENSG00000265190)

Protein

Protein identifiers

Annexin A3 — P12429 (reviewed: P12429)

Alternative names: 35-alpha calcimedin, Annexin III, Annexin-3, Inositol 1,2-cyclic phosphate 2-phosphohydrolase, Lipocortin III, Placental anticoagulant protein III

All UniProt accessions (6): P12429, D6RA82, D6RAZ8, D6RCA8, D6RFG5, D6RFJ9

UniProt curated annotations — full annotation on UniProt →

Function. Inhibitor of phospholipase A2, also possesses anti-coagulant properties. Also cleaves the cyclic bond of inositol 1,2-cyclic phosphate to form inositol 1-phosphate.

Domain organisation. A pair of annexin repeats may form one binding site for calcium and phospholipid.

Similarity. Belongs to the annexin family.

RefSeq proteins (1): NP_005130* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001464AnnexinFamily
IPR002390ANX3Family
IPR018252Annexin_repeat_CSConserved_site
IPR018502Annexin_repeatRepeat
IPR037104Annexin_sfHomologous_superfamily

Pfam: PF00191

UniProt features (40 total): helix 19, sequence variant 4, strand 4, repeat 4, sequence conflict 3, turn 2, modified residue 2, initiator methionine 1, chain 1

Structure

Experimental structures (PDB)

2 structures.

PDBMethodResolution (Å)
1AXNX-RAY DIFFRACTION1.78
1AIIX-RAY DIFFRACTION1.95

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P12429-F196.340.94

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 2, 267

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

IDPathway
R-HSA-9925563Developmental Lineage of Pancreatic Ductal Cells

MSigDB gene sets: 344 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, MODULE_52, GOCC_SECRETORY_GRANULE, GOBP_POSITIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, BRUECKNER_TARGETS_OF_MIRLET7A3_DN, GOBP_POSITIVE_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION, GOBP_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, MUELLER_PLURINET, GOBP_EXOCYTOSIS, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION

GO Biological Process (6): phagocytosis (GO:0006909), positive regulation of endothelial cell migration (GO:0010595), defense response to bacterium (GO:0042742), neutrophil degranulation (GO:0043312), positive regulation of angiogenesis (GO:0045766), obsolete positive regulation of DNA-binding transcription factor activity (GO:0051091)

GO Molecular Function (6): phosphatidylserine binding (GO:0001786), calcium ion binding (GO:0005509), calcium-dependent phospholipid binding (GO:0005544), phospholipase A2 inhibitor activity (GO:0019834), calcium-dependent protein binding (GO:0048306), phospholipase inhibitor activity (GO:0004859)

GO Cellular Component (8): nucleus (GO:0005634), cytoplasm (GO:0005737), plasma membrane (GO:0005886), vesicle membrane (GO:0012506), membrane (GO:0016020), phagocytic vesicle membrane (GO:0030670), specific granule (GO:0042581), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-1 pathways:

CategoryPathways
Developmental Cell Lineages of the Exocrine Pancreas1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
phospholipid binding2
cellular anatomical structure2
endocytosis1
regulation of endothelial cell migration1
positive regulation of cell migration1
endothelial cell migration1
defense response1
response to bacterium1
neutrophil activation involved in immune response1
neutrophil mediated immunity1
leukocyte degranulation1
angiogenesis1
regulation of angiogenesis1
positive regulation of vasculature development1
anion binding1
modified amino acid binding1
metal ion binding1
A2-type glycerophospholipase activity1
phospholipase inhibitor activity1
calcium ion binding1
protein binding1
glycerophospholipase activity1
lipase inhibitor activity1
intracellular membrane-bounded organelle1
intracellular anatomical structure1
membrane1
cell periphery1
organelle membrane1
vesicle1
endocytic vesicle membrane1
phagocytic vesicle1
secretory granule1
extracellular vesicle1

Protein interactions and networks

STRING

1434 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ANXA3S100A6P06703522
ANXA3S100A11P31949510
ANXA3PRRG4Q9BZD6507
ANXA3FPR2P25090490
ANXA3EIF2S3P41091479
ANXA3S100A13Q99584475
ANXA3FRMD3A2A2Y4465
ANXA3S100A10P08206458
ANXA3MS4A1P08984449
ANXA3MS4A2Q01362444
ANXA3TMEM47Q9BQJ4442
ANXA3TMPRSS2O15393437
ANXA3CPEB4Q17RY0419
ANXA3ANXA5P08758407
ANXA3CANXP27824404

IntAct

30 interactions, top by confidence:

ABTypeScore
RAD51DRAD51Bpsi-mi:“MI:0914”(association)0.850
CFTRESYT2psi-mi:“MI:0914”(association)0.710
CFTRPLEKHG3psi-mi:“MI:0914”(association)0.480
CAV1PPM1Gpsi-mi:“MI:0914”(association)0.350
SH2D3CANXA2P2psi-mi:“MI:0914”(association)0.350
PLEKHG3psi-mi:“MI:0914”(association)0.350
CDKN2ANHERF1psi-mi:“MI:0914”(association)0.350
FAM24BSHTN1psi-mi:“MI:0914”(association)0.350
KLHL11PIPSLpsi-mi:“MI:0914”(association)0.350
GNG8POTEFpsi-mi:“MI:0914”(association)0.350
STX17A2ML1psi-mi:“MI:0914”(association)0.350
ST6GALNAC6A2ML1psi-mi:“MI:0914”(association)0.350
PPP2R2BA2ML1psi-mi:“MI:0914”(association)0.350
GABPAA2ML1psi-mi:“MI:0914”(association)0.350
ST7A2ML1psi-mi:“MI:0914”(association)0.350
ELOA2XRCC2psi-mi:“MI:0914”(association)0.350
PATE2ANXA3psi-mi:“MI:0914”(association)0.350
ATF2CLIC1psi-mi:“MI:0914”(association)0.350
STAT3NACApsi-mi:“MI:0914”(association)0.350
ANXA3TP53psi-mi:“MI:0915”(physical association)0.000
ANXA3UBR1psi-mi:“MI:0915”(physical association)0.000
ANXA3UNC119psi-mi:“MI:0915”(physical association)0.000
ANXA3IGSF21psi-mi:“MI:0915”(physical association)0.000
EMG1ANXA3psi-mi:“MI:0915”(physical association)0.000

BioGRID (54): ANXA3 (Co-fractionation), SSNA1 (Co-fractionation), ANXA3 (Affinity Capture-MS), ANXA3 (Affinity Capture-MS), ANXA3 (Affinity Capture-MS), IGSF21 (Two-hybrid), TP53 (Two-hybrid), UBR1 (Two-hybrid), UNC119 (Two-hybrid), ANXA3 (Affinity Capture-MS), ANXA3 (Affinity Capture-MS), ANXA3 (Affinity Capture-MS), ANXA3 (Affinity Capture-MS), ANXA3 (Affinity Capture-MS), ANXA3 (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

9 interactions.

AEffectBMechanism
ANXA3down-regulatesApoptosis
ANXA3“down-regulates quantity by repression”CASP3“transcriptional regulation”
ANXA3“up-regulates activity”MEK1/2
ANXA3“up-regulates activity”ERK1/2
ANXA3“up-regulates activity”AKT
ANXA3“up-regulates activity”NFKBIA
ANXA3“up-regulates activity”JNK
CAV1“up-regulates quantity”ANXA3relocalization
JNK“up-regulates quantity by expression”ANXA3“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 35 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO termPartnersFoldFDR
regulation of cell cycle512.0×6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

83 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance60
Likely benign2
Benign2

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
152987GRCh38/hg38 4q21.1-21.21(chr4:75801143-79005805)x3Pathogenic

SpliceAI

2097 predictions. Top by Δscore:

VariantEffectΔscore
4:78573266:TGG:Tdonor_loss1.0000
4:78573268:G:Cdonor_loss1.0000
4:78573268:G:GGdonor_gain1.0000
4:78573269:TGAG:Tdonor_loss1.0000
4:78573270:GA:Gdonor_loss1.0000
4:78579022:TTTAG:Tacceptor_loss1.0000
4:78579023:TTA:Tacceptor_loss1.0000
4:78579025:A:AGacceptor_gain1.0000
4:78579025:AGGA:Aacceptor_loss1.0000
4:78579026:G:GGacceptor_gain1.0000
4:78579122:G:Tdonor_loss1.0000
4:78579123:T:Gdonor_loss1.0000
4:78582171:TTTTA:Tacceptor_loss1.0000
4:78582172:TTTAG:Tacceptor_loss1.0000
4:78582173:TTA:Tacceptor_loss1.0000
4:78582174:TAG:Tacceptor_loss1.0000
4:78582290:GG:Gdonor_loss1.0000
4:78582291:GTATG:Gdonor_loss1.0000
4:78582292:T:Adonor_loss1.0000
4:78591621:GAT:Gdonor_gain1.0000
4:78591624:G:GGdonor_gain1.0000
4:78595884:C:CGdonor_gain1.0000
4:78597315:TTAGC:Tacceptor_loss1.0000
4:78597317:A:AGacceptor_gain1.0000
4:78597317:AGC:Aacceptor_loss1.0000
4:78597318:G:GAacceptor_gain1.0000
4:78597318:GC:Gacceptor_gain1.0000
4:78597318:GCA:Gacceptor_gain1.0000
4:78597318:GCAT:Gacceptor_gain1.0000
4:78597318:GCATT:Gacceptor_gain1.0000

AlphaMissense

2117 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
4:78595432:G:CA179P0.991
4:78582274:T:CL99P0.987
4:78604358:T:CF291L0.987
4:78604360:C:AF291L0.987
4:78604360:C:GF291L0.987
4:78595433:C:AA179D0.986
4:78604308:G:CR274P0.986
4:78579081:G:CR53P0.985
4:78595806:G:CA185P0.984
4:78595421:C:AA175D0.983
4:78591607:T:CL156P0.982
4:78595798:T:AL182H0.981
4:78601542:G:CA255P0.981
4:78582193:T:CL72S0.980
4:78595866:A:CS205R0.979
4:78595868:C:AS205R0.979
4:78595868:C:GS205R0.979
4:78582264:G:CA96P0.978
4:78595879:T:CL209S0.978
4:78597363:A:CS227R0.978
4:78597365:C:AS227R0.978
4:78597365:C:GS227R0.978
4:78597367:T:AI228K0.978
4:78595798:T:CL182P0.977
4:78573216:T:CF18L0.976
4:78573218:T:AF18L0.976
4:78573218:T:GF18L0.976
4:78601552:T:CL258P0.976
4:78595389:A:CR164S0.975
4:78595389:A:TR164S0.975

dbSNP variants (sampled 300 via entrez): RS1000038790 (4:78567940 C>T), RS1000082964 (4:78555073 C>G), RS10001246 (4:78606118 C>A,G,T), RS1000175938 (4:78593283 A>C,G,T), RS1000195541 (4:78587078 G>C,T), RS1000217261 (4:78603950 C>A,G,T), RS1000277760 (4:78581072 T>G), RS1000367829 (4:78563003 C>G), RS10003947 (4:78591646 T>A,C,G), RS1000427236 (4:78551305 G>A), RS10004883 (4:78595051 G>A), RS1000527264 (4:78562780 T>C), RS1000559236 (4:78599429 T>C), RS1000579408 (4:78573916 C>T), RS1000738529 (4:78567233 G>A)

Disease associations

OMIM: gene MIM:106490 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

8 associations (top):

StudyTraitp-value
GCST001454_1Rheumatoid arthritis1.000000e-12
GCST001496_5Non-albumin protein levels1.000000e-09
GCST002337_122Amyotrophic lateral sclerosis (sporadic)5.000000e-06
GCST006959_98Rheumatoid arthritis7.000000e-06
GCST009391_1938Metabolite levels4.000000e-06
GCST010002_9Refractive error2.000000e-65
GCST011494_12Daytime nap1.000000e-16
GCST90013407_109Liver enzyme levels (gamma-glutamyl transferase)3.000000e-19

EFO canonical traits (3, from GWAS)

EFO IDTrait name
EFO:0009766asparagine measurement
EFO:0007828daytime rest measurement
EFO:0004532serum gamma-glutamyl transferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066962 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

51 potent at pChembl≥5 of 51 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChemblTypeValueUnitMolecule
8.36Kd4.382nMCHEMBL5653589
8.36ED504.382nMCHEMBL5653589
8.00Kd10nMCHEMBL6166407
7.70Kd20nMCHEMBL6163086
7.52Kd30nMCHEMBL6169557
7.40Kd40nMCHEMBL6168832
7.40Kd40nMCHEMBL6161590
7.40Kd40nMCHEMBL6149157
7.30Kd50nMCHEMBL6161616
7.30Kd50nMCHEMBL6147410
7.22Kd60nMCHEMBL6163556
7.16Kd70nMCHEMBL6133707
7.10Kd80nMCHEMBL6162434
7.00Kd100nMCHEMBL6148904
6.96Kd110nMCHEMBL6163895
6.89Kd130nMCHEMBL6160021
6.80Kd160nMCHEMBL6162434
6.75Kd180nMCHEMBL6170895
6.72Kd190nMCHEMBL6148793
6.64Kd230nMCHEMBL6160495
6.60Kd250nMCHEMBL6173112
6.48Kd330nMCHEMBL6152680
6.40Kd400nMCHEMBL6150678
6.38Kd420nMCHEMBL6162414
6.36Kd440nMCHEMBL6152181
6.35Kd450nMCHEMBL6150830
6.34Kd460nMCHEMBL6147148
6.32Kd480nMCHEMBL6163329
6.31Kd490nMCHEMBL6164680
6.24Kd570nMCHEMBL6149963
6.16Kd700nMCHEMBL6152066
6.12Kd760nMCHEMBL6160133
6.10Kd790nMCHEMBL6171106
6.07Kd850nMCHEMBL6161586
6.06Kd880nMCHEMBL6161979
6.06Kd880nMCHEMBL6169481
6.03Kd940nMCHEMBL6171133
5.99Kd1030nMCHEMBL6145877
5.98Kd1050nMCHEMBL6166975
5.94Kd1150nMCHEMBL6144698
5.89Kd1300nMCHEMBL6163469
5.88Kd1310nMCHEMBL6163164
5.86Kd1380nMCHEMBL6160965
5.82Kd1530nMCHEMBL6167277
5.71Kd1930nMCHEMBL6172905
5.66Kd2180nMCHEMBL6169766
5.65Kd2220nMCHEMBL6165217
5.57Kd2670nMCHEMBL6171311
5.39Kd4040nMCHEMBL6168348
5.33Kd4670nMCHEMBL6164724

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

CompoundAssayTypeValueUnit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide2147856: Binding affinity to human ANXA3 incubated for 45 mins by Kinobead based pull down assaykd0.0044uM

CTD chemical–gene interactions

107 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, increases expression, affects expression, decreases expression7
bisphenol Adecreases expression, increases expression, affects cotreatment5
sodium arseniteincreases expression, decreases expression, increases abundance5
Cyclosporinedecreases expression, increases expression4
methylmercuric chloridedecreases expression, increases expression3
trichostatin Aaffects cotreatment, increases expression3
Benzo(a)pyrenedecreases methylation, increases expression3
mercuric bromideincreases expression, affects cotreatment2
chloropicrinincreases expression, decreases expression2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, decreases expression, increases expression2
bisphenol Sincreases expression, affects cotreatment2
Panobinostataffects cotreatment, increases expression2
Acetaminophendecreases expression, increases expression2
Air Pollutantsincreases expression, decreases expression, increases abundance2
Arsenicaffects methylation, increases abundance, increases expression2
Estradioldecreases expression, increases expression2
Phenylmercuric Acetateaffects cotreatment, increases expression2
Smokedecreases expression, increases expression2
Tobacco Smoke Pollutionaffects expression, decreases expression2
Tretinoinincreases expression2
Aflatoxin B1affects expression, decreases methylation, increases expression2
p-Chloromercuribenzoic Acidaffects cotreatment, increases expression2
methyleugenolincreases expression1
triphenyl phosphateaffects expression1
pyrogallol 1,3-dimethyl etheraffects cotreatment, affects localization, decreases expression1
hydroxyhydroquinoneincreases expression1
tris(2-butoxyethyl) phosphateaffects expression1
ferric ammonium citratedecreases reaction, increases expression1
beta-lapachoneincreases expression1
tris(1,3-dichloro-2-propyl)phosphateincreases expression1

ChEMBL screening assays

32 unique, capped per target: 32 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL5650898BindingBinding affinity to human ANXA3 incubated for 45 mins by Kinobead based pull down assayNVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_B1JLAbcam HeLa ANXA3 KOCancer cell lineFemale

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 78

This page pulls from 78 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomereactomeparentrefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot