LVRN
gene geneOn this page
Also known as APQFLJ90650AQPEPTAQPEP
Summary
LVRN (laeverin, HGNC:26904) is a protein-coding gene on chromosome 5q23.1, encoding Aminopeptidase Q (Q6Q4G3). Metalloprotease which may be important for placentation by regulating biological activity of key peptides at the embryo-maternal interface.
Predicted to enable metalloaminopeptidase activity; peptide binding activity; and zinc ion binding activity. Predicted to be involved in peptide catabolic process and proteolysis. Predicted to be active in cytoplasm; extracellular space; and membrane.
Source: NCBI Gene 206338 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 147 total
- Druggable target: yes
- MANE Select transcript:
NM_173800
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26904 |
| Approved symbol | LVRN |
| Name | laeverin |
| Location | 5q23.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | APQ, FLJ90650, AQPEP, TAQPEP |
| Ensembl gene | ENSG00000172901 |
| Ensembl biotype | protein_coding |
| OMIM | 610046 |
| Entrez | 206338 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 4 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 2 retained_intron, 1 protein_coding
ENST00000357872, ENST00000503203, ENST00000503329, ENST00000504467, ENST00000506279, ENST00000512314, ENST00000512413, ENST00000514509, ENST00000515454
RefSeq mRNA: 1 — MANE Select: NM_173800
NM_173800
CCDS: CCDS4124
Canonical transcript exons
ENST00000357872 — 20 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000972254 | 116000433 | 116000498 |
| ENSE00000972255 | 116000593 | 116000658 |
| ENSE00000972256 | 116001067 | 116001239 |
| ENSE00001274418 | 116010741 | 116010894 |
| ENSE00001274423 | 116005912 | 116005967 |
| ENSE00001274429 | 116003241 | 116003380 |
| ENSE00001274433 | 116002835 | 116002911 |
| ENSE00001861823 | 115962475 | 115963312 |
| ENSE00001884161 | 116025978 | 116027606 |
| ENSE00003485355 | 116012374 | 116012468 |
| ENSE00003489055 | 116014420 | 116014527 |
| ENSE00003509105 | 116022391 | 116022466 |
| ENSE00003570164 | 116015628 | 116015765 |
| ENSE00003599275 | 115999762 | 115999902 |
| ENSE00003647972 | 116015252 | 116015419 |
| ENSE00003733475 | 115993741 | 115993854 |
| ENSE00003734503 | 115983287 | 115983429 |
| ENSE00003742736 | 115992123 | 115992277 |
| ENSE00003744025 | 115984570 | 115984709 |
| ENSE00003750313 | 115987813 | 115987939 |
Expression profiles
Bgee: expression breadth ubiquitous, 160 present calls, max score 94.50.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.6554 / max 245.6195, expressed in 91 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 58059 | 0.3531 | 42 |
| 58058 | 0.0846 | 17 |
| 58061 | 0.0770 | 45 |
| 58060 | 0.0612 | 12 |
| 58062 | 0.0513 | 28 |
| 58057 | 0.0283 | 12 |
Top tissues by expression
251 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| decidua | UBERON:0002450 | 94.50 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 90.45 | gold quality |
| calcaneal tendon | UBERON:0003701 | 88.75 | gold quality |
| placenta | UBERON:0001987 | 88.00 | gold quality |
| adipose tissue | UBERON:0001013 | 87.98 | gold quality |
| omental fat pad | UBERON:0010414 | 85.26 | gold quality |
| peritoneum | UBERON:0002358 | 85.18 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 85.12 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.69 | gold quality |
| mucosa of stomach | UBERON:0001199 | 80.73 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 74.86 | gold quality |
| skin of leg | UBERON:0001511 | 74.67 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 74.32 | gold quality |
| lower esophagus | UBERON:0013473 | 74.14 | gold quality |
| right ovary | UBERON:0002118 | 73.72 | gold quality |
| left coronary artery | UBERON:0001626 | 73.35 | gold quality |
| tendon | UBERON:0000043 | 73.24 | gold quality |
| skin of abdomen | UBERON:0001416 | 72.88 | gold quality |
| coronary artery | UBERON:0001621 | 72.41 | gold quality |
| left ovary | UBERON:0002119 | 72.25 | gold quality |
| zone of skin | UBERON:0000014 | 71.84 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 71.81 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 70.97 | gold quality |
| gastrocnemius | UBERON:0001388 | 70.95 | gold quality |
| right coronary artery | UBERON:0001625 | 70.79 | gold quality |
| muscle of leg | UBERON:0001383 | 70.56 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 70.33 | gold quality |
| small intestine | UBERON:0002108 | 68.49 | gold quality |
| skin of hip | UBERON:0001554 | 68.39 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 68.33 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6678 | yes | 17.67 |
| E-ANND-3 | yes | 9.91 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
98 targeting LVRN, 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-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-512-3P | 99.97 | 67.35 | 1049 |
| HSA-MIR-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548H-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548I | 99.94 | 71.25 | 3481 |
| HSA-MIR-548J-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548O-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548W | 99.94 | 71.24 | 3488 |
| HSA-MIR-548Y | 99.94 | 71.28 | 3514 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
Literature-anchored findings (GeneRIF, showing 12)
- Extravillous trophoblasts express laeverin, a novel protein that belongs to membrane-bound gluzincin metallopeptidases(laeverin) (PMID:14706636)
- A novel membrane-bound cell surface peptidase, laeverin (FLJ90650), was found to be specifically expressed on extravillous trophoblasts that had almost ceased invasion into maternal decidual tissues. (PMID:15897020)
- The 3 most significantly overexpressed genes in rheumatoid arthritis were laeverin, 11beta-hydroxysteroid dehydrogenase type 2 (a steroid pathway enzyme), and cysteine-rich, angiogenic inducer 61 (a known angiogenic factor). (PMID:16804865)
- is a novel bestatin-sensitive leucine aminopeptidase; plays important roles in human placentation by regulating biological activity of key peptides at the embryo-maternal interface (PMID:17525158)
- These results indicate that His(379) of laeverin plays essential roles in its distinctive enzymatic properties and contributes to maintaining the appropriate structure of the catalytic cavity of the enzyme. (PMID:19819873)
- Replacement of glutamine-238 with alanine caused a significant change in substrate specificity rather than a decrease in enzymatic activity. (PMID:21212512)
- Laeverin is a specific cell-surface marker for human extravillous trophoblast (EVT) and plays a regulatory role in EVT migration. (PMID:22402206)
- In preeclamptic placentas, laeverin is experssed in the cytoplasm and microvesicles, rather than the cell membrane. Laeverin appears to be involved in trophoblast cell migration and invasion through interaction with integrins and matrix metalloprotease 1. (PMID:24959655)
- Laeverin is expressed in all trophoblast cell types of normal and preeclamptic placentas. Expression pattern of laeverin in trophoblast cells is heterogeneous and not necessarily membrane-bound. (PMID:29355889)
- First trimester maternal serum laeverin level cannot be used to predict preeclampsia. (PMID:29681208)
- Overexpression of LVRN impedes the invasion of trophoblasts by inhibiting epithelial-mesenchymal transition. (PMID:33355358)
- PRG2 and AQPEP are misexpressed in fetal membranes in placenta previa and percretadagger. (PMID:33982062)
Cross-species orthologs
20 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | anpeplb | ENSDARG00000041083 |
| danio_rerio | anpepla | ENSDARG00000089706 |
| mus_musculus | Lvrn | ENSMUSG00000024481 |
| rattus_norvegicus | Lvrn | ENSRNOG00000003950 |
| drosophila_melanogaster | CG7653 | FBGN0028935 |
| drosophila_melanogaster | CG9806 | FBGN0030222 |
| drosophila_melanogaster | CG2111 | FBGN0030223 |
| drosophila_melanogaster | CG6071 | FBGN0036186 |
| drosophila_melanogaster | CG5849 | FBGN0038897 |
| drosophila_melanogaster | superdeath | FBGN0039640 |
| drosophila_melanogaster | CG3502 | FBGN0046253 |
| drosophila_melanogaster | CG31233 | FBGN0051233 |
| drosophila_melanogaster | CG31343 | FBGN0051343 |
| drosophila_melanogaster | CG31445 | FBGN0051445 |
| drosophila_melanogaster | SP1029 | FBGN0263236 |
| drosophila_melanogaster | CG46339 | FBGN0285963 |
| caenorhabditis_elegans | F49B2.6 | WBGENE00009865 |
| caenorhabditis_elegans | WBGENE00011587 | |
| caenorhabditis_elegans | WBGENE00012776 | |
| caenorhabditis_elegans | WBGENE00013166 |
Paralogs (11): TRHDE (ENSG00000072657), LTA4H (ENSG00000111144), LNPEP (ENSG00000113441), ENPEP (ENSG00000138792), NPEPPS (ENSG00000141279), RNPEPL1 (ENSG00000142327), AOPEP (ENSG00000148120), ERAP1 (ENSG00000164307), ERAP2 (ENSG00000164308), ANPEP (ENSG00000166825), RNPEP (ENSG00000176393)
Protein
Protein identifiers
Aminopeptidase Q — Q6Q4G3 (reviewed: Q6Q4G3)
Alternative names: CHL2 antigen, Laeverin
All UniProt accessions (1): Q6Q4G3
UniProt curated annotations — full annotation on UniProt →
Function. Metalloprotease which may be important for placentation by regulating biological activity of key peptides at the embryo-maternal interface. On synthetic substrates it shows a marked preference for Leu-4-methylcoumaryl-7-amide (Leu-MCA) over Met-MCA, Arg-LCA and Lys-LCA. Cleaves the N-terminal amino acid of several peptides such as angiotensin-3, kisspeptin-10 and endokinin C.
Subunit / interactions. Homodimer.
Subcellular location. Membrane.
Tissue specificity. Specifically expressed in placenta and not in other tissues. Mainly found at the cell surface region of the extravillous trophoblasts. Detected on extravillous trophoblasts in the outer layer of the chorion laeve in the fetal membrane Not detected on either fetal amnionic epithelial cells or maternal decidual cells. Also detected in the migrating extravillous trophoblasts in the maternal decidual tissues (at protein level).
Post-translational modifications. N-glycosylated.
Activity regulation. Inhibited by bestatin.
Cofactor. Binds 1 zinc ion per subunit.
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Similarity. Belongs to the peptidase M1 family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6Q4G3-1 | 1 | yes |
| Q6Q4G3-2 | 2 | |
| Q6Q4G3-3 | 3 | |
| Q6Q4G3-4 | 4 |
RefSeq proteins (1): NP_776161* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001930 | Peptidase_M1 | Family |
| IPR014782 | Peptidase_M1_dom | Domain |
| IPR024571 | ERAP1-like_C_dom | Domain |
| IPR027268 | Peptidase_M4/M1_CTD_sf | Homologous_superfamily |
| IPR034016 | M1_APN-typ | Family |
| IPR042097 | Aminopeptidase_N-like_N_sf | Homologous_superfamily |
| IPR045357 | Aminopeptidase_N-like_N | Domain |
| IPR050344 | Peptidase_M1_aminopeptidases | Family |
Pfam: PF01433, PF11838, PF17900
UniProt features (35 total): glycosylation site 8, splice variant 7, binding site 5, sequence variant 3, sequence conflict 3, topological domain 2, active site 2, initiator methionine 1, chain 1, site 1, transmembrane region 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6Q4G3-F1 | 89.08 | 0.71 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (3): 503 (transition state stabilizer); 416 (proton acceptor); 503 (proton donor)
Ligand- & substrate-binding residues (5): 415; 419; 438; 240; 379–383
Glycosylation sites (8): 132, 168, 261, 288, 319, 346, 607, 653
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 66 (showing top):
GOMF_METALLOPEPTIDASE_ACTIVITY, GCANCTGNY_MYOD_Q6, GOBP_PEPTIDE_METABOLIC_PROCESS, KOYAMA_SEMA3B_TARGETS_UP, GOBP_PEPTIDE_CATABOLIC_PROCESS, GOBP_PROTEOLYSIS, GOMF_METALLOEXOPEPTIDASE_ACTIVITY, GOMF_PEPTIDASE_ACTIVITY, GOMF_AMINOPEPTIDASE_ACTIVITY, GOMF_EXOPEPTIDASE_ACTIVITY, GOMF_METALLOAMINOPEPTIDASE_ACTIVITY, TAL1BETAITF2_01, SUPT16H_TARGET_GENES, ZFHX3_TARGET_GENES, MIR559
GO Biological Process (2): proteolysis (GO:0006508), peptide catabolic process (GO:0043171)
GO Molecular Function (8): zinc ion binding (GO:0008270), metalloaminopeptidase activity (GO:0070006), aminopeptidase activity (GO:0004177), protein binding (GO:0005515), peptidase activity (GO:0008233), metallopeptidase activity (GO:0008237), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)
GO Cellular Component (2): obsolete extracellular space (GO:0005615), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein metabolic process | 1 |
| peptide metabolic process | 1 |
| catabolic process | 1 |
| transition metal ion binding | 1 |
| aminopeptidase activity | 1 |
| metalloexopeptidase activity | 1 |
| exopeptidase activity | 1 |
| binding | 1 |
| hydrolase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| peptidase activity | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1202 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LVRN | CHRDL2 | Q6WN34 | 799 |
| LVRN | DNAI3 | Q8IWG1 | 479 |
| LVRN | WBP2NL | Q6ICG8 | 477 |
| LVRN | EDN3 | P14138 | 468 |
| LVRN | GALNTL5 | Q7Z4T8 | 456 |
| LVRN | ACSBG2 | Q5FVE4 | 438 |
| LVRN | ABCA13 | Q86UQ4 | 418 |
| LVRN | NME8 | Q8N427 | 410 |
| LVRN | CCDC149 | Q6ZUS6 | 404 |
| LVRN | KIF14 | Q15058 | 398 |
| LVRN | MAP4 | P27816 | 397 |
| LVRN | ZFHX3 | Q15911 | 389 |
| LVRN | DRC11 | Q86XH1 | 385 |
| LVRN | ADGB | Q8N7X0 | 383 |
| LVRN | OR51I2 | Q9H344 | 383 |
| LVRN | FANCL | Q9NW38 | 383 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| M | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (3): AQPEP (Two-hybrid), AQPEP (Two-hybrid), AQPEP (Affinity Capture-MS)
ESM2 similar proteins: A0A6J2ATK2, A5HUI5, A6QPT7, D3UW23, M3XFH7, O57579, O88917, O88923, O94910, O95490, O97817, O97827, O97831, P15144, P15145, P15541, P15684, P16406, P42658, P42659, P46101, P50123, P79098, P79143, P79171, P97449, P97629, Q07075, Q10737, Q22523, Q2KHK3, Q2M2H8, Q32LQ0, Q5RFP3, Q6P179, Q6Q4G3, Q7Q2T8, Q7TT41, Q80TR1, Q80TS3
Diamond homologs: A0A6J2ATK2, A6NEC2, A6QPT7, M3XFH7, O57579, P15144, P15145, P15541, P15684, P46557, P50123, P79098, P79143, P79171, P97449, P97629, Q07075, Q10736, Q10836, Q2KHK3, Q32LQ0, Q5RFP3, Q6P179, Q6Q4G3, Q7Q2T8, Q8C129, Q8K093, Q95334, Q9EQH2, Q9JJ22, Q9UIQ6, Q9UKU6, A5HUI5, D3UW23, O93654, O93655, P0DQU2, P16406, P32454, P37893
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
147 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 126 |
| Likely benign | 10 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3941 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:115963314:T:A | donor_loss | 1.0000 |
| 5:115964712:G:GT | donor_gain | 1.0000 |
| 5:115964712:G:T | donor_gain | 1.0000 |
| 5:115993736:A:AG | acceptor_gain | 1.0000 |
| 5:115993737:A:G | acceptor_gain | 1.0000 |
| 5:115993737:AAAGT:A | acceptor_gain | 1.0000 |
| 5:115993738:AAGT:A | acceptor_gain | 1.0000 |
| 5:116000591:A:AG | acceptor_gain | 1.0000 |
| 5:116000592:G:GG | acceptor_gain | 1.0000 |
| 5:116000592:GT:G | acceptor_gain | 1.0000 |
| 5:116000592:GTC:G | acceptor_gain | 1.0000 |
| 5:116000592:GTCA:G | acceptor_gain | 1.0000 |
| 5:116000592:GTCAT:G | acceptor_gain | 1.0000 |
| 5:116002829:A:AG | acceptor_gain | 1.0000 |
| 5:116002830:A:G | acceptor_gain | 1.0000 |
| 5:116002832:A:AG | acceptor_gain | 1.0000 |
| 5:116002832:AAGT:A | acceptor_gain | 1.0000 |
| 5:116002833:A:G | acceptor_gain | 1.0000 |
| 5:116002834:G:GA | acceptor_gain | 1.0000 |
| 5:116002834:GT:G | acceptor_gain | 1.0000 |
| 5:116002907:CAGCA:C | donor_gain | 1.0000 |
| 5:116002908:AGCA:A | donor_gain | 1.0000 |
| 5:116002909:GCA:G | donor_gain | 1.0000 |
| 5:116002909:GCAG:G | donor_gain | 1.0000 |
| 5:116002910:CA:C | donor_gain | 1.0000 |
| 5:116002912:G:GG | donor_gain | 1.0000 |
| 5:116003240:GAA:G | acceptor_gain | 1.0000 |
| 5:116012372:A:AG | acceptor_gain | 1.0000 |
| 5:116012373:G:GG | acceptor_gain | 1.0000 |
| 5:116012464:GCTCT:G | donor_gain | 1.0000 |
AlphaMissense
6541 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:116001127:T:A | W570R | 0.990 |
| 5:116001127:T:C | W570R | 0.990 |
| 5:115983325:G:T | R245M | 0.986 |
| 5:115984620:T:C | F297L | 0.986 |
| 5:115984622:T:A | F297L | 0.986 |
| 5:115984622:T:G | F297L | 0.986 |
| 5:115999902:G:C | K505N | 0.986 |
| 5:115999902:G:T | K505N | 0.986 |
| 5:115983341:T:G | C250W | 0.985 |
| 5:115993741:T:A | W421R | 0.985 |
| 5:115993741:T:C | W421R | 0.985 |
| 5:115993773:G:C | W431C | 0.982 |
| 5:115993773:G:T | W431C | 0.982 |
| 5:115993771:T:A | W431R | 0.981 |
| 5:115993771:T:C | W431R | 0.981 |
| 5:116010814:T:A | W723R | 0.981 |
| 5:116010814:T:C | W723R | 0.981 |
| 5:115993783:T:A | W435R | 0.980 |
| 5:115993783:T:C | W435R | 0.980 |
| 5:116000641:T:A | W544R | 0.977 |
| 5:116000641:T:C | W544R | 0.977 |
| 5:115963239:T:C | F208L | 0.976 |
| 5:115963241:C:A | F208L | 0.976 |
| 5:115963241:C:G | F208L | 0.976 |
| 5:115983325:G:C | R245T | 0.976 |
| 5:116015731:T:C | F908L | 0.976 |
| 5:116015733:C:A | F908L | 0.976 |
| 5:116015733:C:G | F908L | 0.976 |
| 5:115987825:G:C | A331P | 0.973 |
| 5:116015318:G:C | W839C | 0.972 |
dbSNP variants (sampled 300 via entrez): RS1000076499 (5:116027023 T>A), RS1000108994 (5:115977602 T>C), RS1000157733 (5:115969840 A>T), RS1000174840 (5:115987212 A>G), RS1000262658 (5:116006679 A>G), RS1000391198 (5:115998109 T>C), RS1000433497 (5:115962733 A>G), RS1000548487 (5:115971288 G>T), RS1000595504 (5:116004070 A>G), RS1000665710 (5:116002902 C>G,T), RS1000721885 (5:116020720 T>G), RS1000722610 (5:115967461 T>C), RS1000723826 (5:115999099 C>A,T), RS1000781669 (5:115986159 G>C,T), RS1000792890 (5:116020940 A>G)
Disease associations
OMIM: gene MIM:610046 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002685_12 | Refractive astigmatism | 1.000000e-06 |
| GCST002690_6 | Very long-chain saturated fatty acid levels (fatty acid 20:0) | 4.000000e-06 |
| GCST008181_6 | Spontaneous preterm birth without premature rupture of membranes | 4.000000e-06 |
| GCST90002390_138 | Mean corpuscular hemoglobin | 1.000000e-09 |
| GCST90002404_211 | Red cell distribution width | 1.000000e-09 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006796 | very long-chain saturated fatty acid measurement |
| EFO:0006917 | spontaneous preterm birth |
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0009188 | Red cell distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3831223 (PROTEIN FAMILY)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — M1: Aminopeptidase N
CTD chemical–gene interactions
7 total (human), top 7 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Nickel | decreases expression | 2 |
| arsenite | increases methylation | 1 |
| abrine | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | increases methylation, affects methylation | 1 |
| Naled | affects expression | 1 |
| Cyclosporine | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 admet
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4334276 | ADMET | Stability in pH 2 HCl assessed as aminopeptidase (unknown origin)-mediated compound hydrolysis by measuring parent compound remaining at 200 uM up to 6 hrs by RP-HPLC analysis | Astratides: Insulin-Modulating, Insecticidal, and Antifungal Cysteine-Rich Peptides from Astragalus membranaceus. — J Nat Prod |
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.