ANXA13
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Summary
ANXA13 (annexin A13, HGNC:536) is a protein-coding gene on chromosome 8q24.13, encoding Annexin A13 (P27216). Binds to membranes enriched in phosphatidylserine or phosphatidylglycerol in a calcium-dependent manner.
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 specific function of this gene has not yet been determined; however, it is associated with the plasma membrane of undifferentiated, proliferating endothelial cells and differentiated villus enterocytes. Alternatively spliced transcript variants encoding different isoforms have been identified.
Source: NCBI Gene 312 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 82 total — 4 pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_004306
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:536 |
| Approved symbol | ANXA13 |
| Name | annexin A13 |
| Location | 8q24.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000104537 |
| Ensembl biotype | protein_coding |
| OMIM | 602573 |
| Entrez | 312 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 8 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000262219, ENST00000419625, ENST00000519045, ENST00000520519, ENST00000520591, ENST00000523822, ENST00000862979, ENST00000862980, ENST00000862981, ENST00000862982, ENST00000962456
RefSeq mRNA: 2 — MANE Select: NM_004306
NM_001003954, NM_004306
CCDS: CCDS34939, CCDS47917
Canonical transcript exons
ENST00000419625 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000703223 | 123688871 | 123688946 |
| ENSE00000703231 | 123695688 | 123695721 |
| ENSE00000703234 | 123698389 | 123698559 |
| ENSE00000871715 | 123693197 | 123693298 |
| ENSE00000871716 | 123693711 | 123693779 |
| ENSE00000981342 | 123702642 | 123702736 |
| ENSE00000981343 | 123695502 | 123695581 |
| ENSE00001292122 | 123737320 | 123737393 |
| ENSE00001308806 | 123684610 | 123684722 |
| ENSE00002134040 | 123680794 | 123681359 |
| ENSE00003576382 | 123712678 | 123712753 |
Expression profiles
Bgee: expression breadth ubiquitous, 149 present calls, max score 98.37.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.0216 / max 367.8843, expressed in 57 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 94740 | 0.9556 | 41 |
| 94739 | 0.0334 | 15 |
| 94741 | 0.0326 | 15 |
Top tissues by expression
277 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| gall bladder | UBERON:0002110 | 98.37 | gold quality |
| jejunal mucosa | UBERON:0000399 | 97.14 | gold quality |
| duodenum | UBERON:0002114 | 95.14 | gold quality |
| right uterine tube | UBERON:0001302 | 94.96 | gold quality |
| rectum | UBERON:0001052 | 90.36 | gold quality |
| pancreatic ductal cell | CL:0002079 | 89.05 | silver quality |
| small intestine Peyer’s patch | UBERON:0003454 | 87.87 | gold quality |
| small intestine | UBERON:0002108 | 87.86 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 85.02 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 82.23 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 81.93 | gold quality |
| ileal mucosa | UBERON:0000331 | 81.76 | gold quality |
| seminal vesicle | UBERON:0000998 | 81.22 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 80.96 | gold quality |
| transverse colon | UBERON:0001157 | 80.09 | gold quality |
| colonic mucosa | UBERON:0000317 | 79.98 | gold quality |
| intestine | UBERON:0000160 | 78.84 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 78.63 | gold quality |
| spinal cord | UBERON:0002240 | 77.71 | gold quality |
| jejunum | UBERON:0002115 | 76.99 | gold quality |
| large intestine | UBERON:0000059 | 75.61 | gold quality |
| colon | UBERON:0001155 | 75.41 | gold quality |
| right lobe of liver | UBERON:0001114 | 72.12 | gold quality |
| sigmoid colon | UBERON:0001159 | 70.79 | gold quality |
| fallopian tube | UBERON:0003889 | 69.64 | gold quality |
| caput epididymis | UBERON:0004358 | 68.44 | gold quality |
| liver | UBERON:0002107 | 68.28 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 68.13 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 67.38 | gold quality |
| lower esophagus | UBERON:0013473 | 67.27 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-98 | yes | 527.09 |
| E-GEOD-125970 | yes | 16.18 |
| E-ANND-3 | yes | 10.63 |
| E-MTAB-8410 | yes | 4.57 |
| E-MTAB-5061 | no | 3.77 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
14 targeting ANXA13, 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-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-22-3P | 99.93 | 68.13 | 917 |
| HSA-MIR-105-5P | 99.54 | 69.24 | 2060 |
| HSA-MIR-7853-5P | 99.54 | 69.30 | 2055 |
| HSA-MIR-486-5P | 99.51 | 70.39 | 707 |
| HSA-MIR-122B-5P | 99.46 | 70.81 | 1457 |
| HSA-MIR-455-5P | 98.74 | 67.31 | 795 |
| HSA-MIR-6868-3P | 98.63 | 69.64 | 2259 |
| HSA-MIR-6830-3P | 98.62 | 68.07 | 1760 |
| HSA-MIR-3188 | 98.58 | 65.60 | 878 |
| HSA-MIR-93-3P | 98.15 | 66.65 | 1309 |
| HSA-MIR-938 | 97.41 | 68.28 | 656 |
Literature-anchored findings (GeneRIF, showing 7)
- Genetic Screening Revealed the Negative Regulation of miR-310~313 Cluster Members on Imd Pathway during Gram-Negative Bacterial Infection in Drosophila. (PMID:38790230)
- The unique, conserved aspects of annexin A13 primary structure, gene organization, and genetic maps identify it as the probable common ancestor of all vertebrate annexins. (PMID:11961095)
- Ectopic overexpression of Annexin A13 was likewise sufficient to sensitize malignant breast cancer cells to treatment with Rapamycin. (PMID:20701074)
- High ANXA13 expression is associated with Refractory Lupus Nephritis. (PMID:26110394)
- ANXA13 is associated with colorectal cancer cell invasion in vitro, and with lymph node metastasis and poor survival in colorectal cancer patients (PMID:28423508)
- a mechanism for how the association of the ANX A13a isoform with the membrane is regulated (PMID:30610115)
- Intracellular Transport of Ribosome-Inactivating Proteins Depends on Annexin 13. (PMID:33119820)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | anxa13l | ENSDARG00000013613 |
| danio_rerio | anxa14 | ENSDARG00000100104 |
| mus_musculus | Anxa13 | ENSMUSG00000055114 |
| rattus_norvegicus | Anxa13 | ENSRNOG00000007980 |
| drosophila_melanogaster | AnxB9 | FBGN0000083 |
| drosophila_melanogaster | AnxB11 | FBGN0030749 |
Paralogs (12): ANXA10 (ENSG00000109511), 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 A13 — P27216 (reviewed: P27216)
Alternative names: Annexin XIII, Annexin-13, Intestine-specific annexin
All UniProt accessions (2): E5RIN3, P27216
UniProt curated annotations — full annotation on UniProt →
Function. Binds to membranes enriched in phosphatidylserine or phosphatidylglycerol in a calcium-dependent manner. Half-maximal membrane binding requires about 60 uM calcium. Does not bind to membranes that lack phospholipids with an acidic headgroup. Binds to membranes enriched in phosphatidylserine or phosphatidylglycerol in a calcium-dependent manner, but requires higher calcium levels for membrane binding than isoform A. Half-maximal membrane binding requires about 320 uM calcium.
Subunit / interactions. Monomer and homodimer.
Subcellular location. Apical cell membrane. Cell membrane. Cytoplasmic vesicle.
Tissue specificity. Detected in epithelial cells in colon and jejunum (at protein level). Detected in epithelial cells in jejunum.
Domain organisation. A pair of annexin repeats may form one binding site for calcium and phospholipid.
Similarity. Belongs to the annexin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P27216-1 | A, Anx13A, A13a | yes |
| P27216-2 | B, Anx13B, A13b |
RefSeq proteins (2): NP_001003954, NP_004297* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001464 | Annexin | Family |
| IPR009166 | ANX13 | Family |
| IPR018252 | Annexin_repeat_CS | Conserved_site |
| IPR018502 | Annexin_repeat | Repeat |
| IPR037104 | Annexin_sf | Homologous_superfamily |
Pfam: PF00191
UniProt features (36 total): helix 18, repeat 4, sequence variant 3, mutagenesis site 3, strand 2, initiator methionine 1, chain 1, sequence conflict 1, turn 1, lipid moiety-binding region 1, splice variant 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6B3I | X-RAY DIFFRACTION | 2.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P27216-F1 | 95.00 | 0.92 |
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 (1): 2
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 2 | loss of myristoylation. loss of location at the cell membrane. |
| 32–34 | loss of dimerization. no effect on calcium-dependent membrane binding and location at the cell membrane. |
| 73 | slightly increased dimerization. decreases calcium-dependent membrane binding and location at the cell membrane. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 123 (showing top):
GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_VESICLE_MEDIATED_TRANSPORT, MODULE_453, HNF1_Q6, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, PUJANA_CHEK2_PCC_NETWORK, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_GOLGI_TO_PLASMA_MEMBRANE_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_TRANSPORT, RGTTAMWNATT_HNF1_01, GOBP_REGULATION_OF_CELLULAR_LOCALIZATION, GOBP_NEGATIVE_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE
GO Biological Process (3): cell differentiation (GO:0030154), negative regulation of Golgi to plasma membrane protein transport (GO:0042997), positive regulation of Golgi to plasma membrane protein transport (GO:0042998)
GO Molecular Function (4): phosphatidylserine binding (GO:0001786), calcium ion binding (GO:0005509), calcium-dependent phospholipid binding (GO:0005544), phosphatidylglycerol binding (GO:1901611)
GO Cellular Component (13): obsolete extracellular space (GO:0005615), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), plasma membrane (GO:0005886), vesicle membrane (GO:0012506), membrane (GO:0016020), basolateral plasma membrane (GO:0016323), apical plasma membrane (GO:0016324), cytoplasmic vesicle (GO:0031410), membrane raft (GO:0045121), extracellular exosome (GO:0070062), exocytic vesicle (GO:0070382)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| phospholipid binding | 3 |
| cellular anatomical structure | 3 |
| regulation of Golgi to plasma membrane protein transport | 2 |
| Golgi to plasma membrane protein transport | 2 |
| anion binding | 2 |
| plasma membrane region | 2 |
| cellular developmental process | 1 |
| negative regulation of protein transport | 1 |
| negative regulation of protein localization to plasma membrane | 1 |
| positive regulation of protein transport | 1 |
| positive regulation of protein localization to plasma membrane | 1 |
| modified amino acid binding | 1 |
| metal ion binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| membrane | 1 |
| cell periphery | 1 |
| organelle membrane | 1 |
| vesicle | 1 |
| basal plasma membrane | 1 |
| apical part of cell | 1 |
| cytoplasm | 1 |
| intracellular vesicle | 1 |
| membrane microdomain | 1 |
| extracellular vesicle | 1 |
| transport vesicle | 1 |
| secretory vesicle | 1 |
Protein interactions and networks
STRING
636 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ANXA13 | CSMD3 | Q7Z407 | 833 |
| ANXA13 | EXT1 | Q16394 | 742 |
| ANXA13 | TRPS1 | Q9UHF7 | 726 |
| ANXA13 | NKX3-2 | P78367 | 411 |
| ANXA13 | SGCA | Q16586 | 410 |
| ANXA13 | DYSF | O75923 | 404 |
| ANXA13 | LMO2 | P25791 | 386 |
| ANXA13 | ANXA5 | P08758 | 386 |
| ANXA13 | COL9A2 | Q14055 | 361 |
| ANXA13 | DLX2 | Q07687 | 353 |
| ANXA13 | APOBEC2 | Q9Y235 | 353 |
| ANXA13 | ACRBP | Q8NEB7 | 352 |
| ANXA13 | ZPBP2 | Q6X784 | 352 |
| ANXA13 | SPACA3 | Q8IXA5 | 352 |
| ANXA13 | CYB5R2 | Q6BCY4 | 348 |
IntAct
16 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DEUP1 | HIP1 | psi-mi:“MI:0914”(association) | 0.530 |
| SCCPDH | RPN1 | psi-mi:“MI:0914”(association) | 0.530 |
| ARMC8 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| EDAR | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.350 |
| DEFB109B | CHST10 | psi-mi:“MI:0914”(association) | 0.350 |
| SIRT3 | SRC | psi-mi:“MI:0914”(association) | 0.350 |
| ARMS2 | PRKCA | psi-mi:“MI:0914”(association) | 0.350 |
| APBB1IP | ANXA13 | psi-mi:“MI:0914”(association) | 0.350 |
| MSI2 | ANXA13 | psi-mi:“MI:0914”(association) | 0.350 |
| ANXA2 | ANXA13 | psi-mi:“MI:0914”(association) | 0.350 |
| SRPRA | ANXA13 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF200 | ANXA13 | psi-mi:“MI:0914”(association) | 0.350 |
| YIPF3 | EI24 | psi-mi:“MI:0914”(association) | 0.350 |
| BCL2L12 | MCM3AP | psi-mi:“MI:0914”(association) | 0.350 |
| ANXA13 | NMT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (33): ANXA13 (Affinity Capture-MS), ANXA13 (Affinity Capture-MS), ANXA13 (Affinity Capture-MS), ANXA13 (Affinity Capture-MS), ANXA13 (Affinity Capture-MS), ANXA13 (Affinity Capture-MS), ANXA13 (Affinity Capture-MS), ANXA13 (Affinity Capture-MS), ANXA13 (Affinity Capture-MS), ANXA13 (Affinity Capture-MS), ANXA13 (Affinity Capture-MS), ANXA13 (Affinity Capture-MS), ANXA13 (Affinity Capture-MS), ANXA13 (Affinity Capture-MS), ANXA13 (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
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ANXA13 | “up-regulates quantity” | NEDD4 | relocalization |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 24 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.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Hemostasis | 5 | 11.3× | 8e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
82 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 4 |
| Likely pathogenic | 0 |
| Uncertain significance | 67 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (4)
| Variant ID | HGVS | Classification |
|---|---|---|
| 144138 | GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3 | Pathogenic |
| 154743 | GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 | Pathogenic |
| 2671975 | GRCh37/hg19 8q24.13-24.21(chr8:124534271-129054138)x4 | Pathogenic |
| 3245610 | NC_000008.10:g.(?124515613)(126379127_?)del | Pathogenic |
SpliceAI
2212 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:123681360:C:CC | acceptor_gain | 1.0000 |
| 8:123684604:TCTTA:T | donor_loss | 1.0000 |
| 8:123684605:CTTAC:C | donor_loss | 1.0000 |
| 8:123684606:TTA:T | donor_loss | 1.0000 |
| 8:123684607:TA:T | donor_loss | 1.0000 |
| 8:123684608:A:AG | donor_loss | 1.0000 |
| 8:123684719:CTCA:C | acceptor_gain | 1.0000 |
| 8:123684720:TCA:T | acceptor_gain | 1.0000 |
| 8:123684721:CA:C | acceptor_gain | 1.0000 |
| 8:123684721:CAC:C | acceptor_gain | 1.0000 |
| 8:123684723:C:CC | acceptor_gain | 1.0000 |
| 8:123684728:C:CT | acceptor_gain | 1.0000 |
| 8:123684729:A:T | acceptor_gain | 1.0000 |
| 8:123693717:CAGAT:C | donor_gain | 1.0000 |
| 8:123695599:A:T | acceptor_gain | 1.0000 |
| 8:123712680:ATT:A | donor_gain | 1.0000 |
| 8:123735753:A:AC | donor_gain | 1.0000 |
| 8:123735754:C:CC | donor_gain | 1.0000 |
| 8:123735754:CAGG:C | donor_gain | 1.0000 |
| 8:123737315:CTT:C | donor_loss | 1.0000 |
| 8:123737317:TA:T | donor_loss | 1.0000 |
| 8:123737318:A:AC | donor_gain | 1.0000 |
| 8:123737318:A:AG | donor_loss | 1.0000 |
| 8:123737319:C:CT | donor_gain | 1.0000 |
| 8:123737319:CATGA:C | donor_gain | 1.0000 |
| 8:123681356:CCAC:C | acceptor_gain | 0.9900 |
| 8:123681357:CAC:C | acceptor_gain | 0.9900 |
| 8:123681357:CACC:C | acceptor_gain | 0.9900 |
| 8:123681358:ACC:A | acceptor_loss | 0.9900 |
| 8:123681360:C:A | acceptor_loss | 0.9900 |
AlphaMissense
2072 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:123681330:G:C | F287L | 0.983 |
| 8:123681330:G:T | F287L | 0.983 |
| 8:123681332:A:G | F287L | 0.983 |
| 8:123693298:C:G | A181P | 0.977 |
| 8:123693728:C:G | A175P | 0.973 |
| 8:123702681:C:A | R49S | 0.971 |
| 8:123702681:C:G | R49S | 0.971 |
| 8:123693718:A:G | L178P | 0.970 |
| 8:123698462:A:G | L95P | 0.969 |
| 8:123693727:G:T | A175D | 0.966 |
| 8:123695554:A:T | V140D | 0.964 |
| 8:123681295:A:T | V299D | 0.962 |
| 8:123693773:G:T | R160S | 0.962 |
| 8:123693260:G:C | F193L | 0.960 |
| 8:123693260:G:T | F193L | 0.960 |
| 8:123693262:A:G | F193L | 0.960 |
| 8:123693212:A:C | F209L | 0.958 |
| 8:123693212:A:T | F209L | 0.958 |
| 8:123693214:A:G | F209L | 0.958 |
| 8:123695566:A:T | L136H | 0.958 |
| 8:123702706:A:G | L41S | 0.957 |
| 8:123698406:A:G | C114R | 0.953 |
| 8:123702662:A:C | Y56D | 0.953 |
| 8:123693739:G:T | A171D | 0.951 |
| 8:123681270:G:C | F307L | 0.950 |
| 8:123681270:G:T | F307L | 0.950 |
| 8:123681272:A:G | F307L | 0.950 |
| 8:123688918:A:T | I224N | 0.950 |
| 8:123693225:A:G | L205S | 0.950 |
| 8:123698454:C:G | A98P | 0.949 |
dbSNP variants (sampled 300 via entrez): RS1000022725 (8:123739135 C>A,T), RS1000055906 (8:123719321 C>G,T), RS1000076265 (8:123703757 A>G), RS1000146174 (8:123703492 T>A,C), RS1000153981 (8:123692666 T>A), RS1000234375 (8:123737689 G>A), RS1000258636 (8:123735974 G>A,T), RS1000269342 (8:123696591 G>A), RS1000370391 (8:123725557 T>C), RS1000433082 (8:123733498 A>C), RS1000623714 (8:123737584 G>A), RS1000657141 (8:123708810 G>A), RS1000730742 (8:123686422 T>C), RS1000731880 (8:123703548 A>T), RS1000768167 (8:123694442 C>G)
Disease associations
OMIM: gene MIM:602573 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): distal trisomy 8q (MONDO:0019882)
Orphanet (1): Distal duplication 8q syndrome (Orphanet:96100)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000857_3 | Event-related brain oscillations | 9.000000e-06 |
| GCST003225_15 | Pelvic organ prolapse (moderate/severe) | 9.000000e-06 |
| GCST005076_17 | Breast cancer (estrogen-receptor negative) | 2.000000e-08 |
| GCST005077_8 | Breast cancer | 2.000000e-11 |
| GCST006979_369 | Heel bone mineral density | 1.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004358 | event-related brain oscillation |
| EFO:0009270 | heel bone mineral density |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6196076 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Acetaminophen | decreases expression | 2 |
| Tetrachlorodibenzodioxin | decreases expression, affects expression, affects cotreatment | 2 |
| propionaldehyde | decreases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| titanium dioxide | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| sodium arsenite | affects methylation | 1 |
| butyraldehyde | decreases expression | 1 |
| butylbenzyl phthalate | decreases expression | 1 |
| pentanal | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| nutlin 3 | increases expression | 1 |
| abrine | decreases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Irinotecan | decreases expression | 1 |
| Air Pollutants | decreases expression | 1 |
| Aldehydes | decreases expression | 1 |
| Catechin | affects cotreatment, decreases expression | 1 |
| Cisplatin | increases expression, affects cotreatment | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Endosulfan | affects cotreatment, decreases expression | 1 |
| Folic Acid | affects expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | decreases expression | 1 |
| Cyclosporine | decreases 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 |
|---|---|---|---|
| CHEMBL6106837 | Binding | Induction of ANXA13 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
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): distal trisomy 8q, estrogen-receptor negative breast cancer, pelvic organ prolapse