ADAM21
gene geneOn this page
Also known as ADAM31
Summary
ADAM21 (ADAM metallopeptidase domain 21, HGNC:200) is a protein-coding gene on chromosome 14q24.2, encoding Disintegrin and metalloproteinase domain-containing protein 21 (Q9UKJ8). May be involved in sperm maturation and/or fertilization.
This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The expression of this gene expression is testis-specific.
Source: NCBI Gene 8747 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 114 total
- MANE Select transcript:
NM_003813
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:200 |
| Approved symbol | ADAM21 |
| Name | ADAM metallopeptidase domain 21 |
| Location | 14q24.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ADAM31 |
| Ensembl gene | ENSG00000139985 |
| Ensembl biotype | protein_coding |
| OMIM | 603713 |
| Entrez | 8747 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000603540, ENST00000679631, ENST00000942462, ENST00000942463
RefSeq mRNA: 1 — MANE Select: NM_003813
NM_003813
CCDS: CCDS9804
Canonical transcript exons
ENST00000603540 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002452332 | 70452174 | 70452263 |
| ENSE00003575393 | 70457349 | 70459905 |
Expression profiles
Bgee: expression breadth ubiquitous, 121 present calls, max score 94.51.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0146 / max 13.9836, expressed in 3 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 140401 | 0.0146 | 3 |
Top tissues by expression
259 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 94.51 | gold quality |
| male germ cell | CL:0000015 | 90.66 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 77.61 | gold quality |
| secondary oocyte | CL:0000655 | 76.53 | gold quality |
| right testis | UBERON:0004534 | 71.38 | gold quality |
| left testis | UBERON:0004533 | 71.10 | gold quality |
| testis | UBERON:0000473 | 70.10 | gold quality |
| ileal mucosa | UBERON:0000331 | 68.09 | gold quality |
| tibialis anterior | UBERON:0001385 | 67.96 | silver quality |
| buccal mucosa cell | CL:0002336 | 63.72 | gold quality |
| oocyte | CL:0000023 | 61.10 | silver quality |
| stromal cell of endometrium | CL:0002255 | 60.48 | gold quality |
| pancreatic ductal cell | CL:0002079 | 59.03 | silver quality |
| tendon of biceps brachii | UBERON:0008188 | 58.08 | gold quality |
| decidua | UBERON:0002450 | 56.55 | gold quality |
| endothelial cell | CL:0000115 | 56.53 | gold quality |
| hair follicle | UBERON:0002073 | 56.04 | gold quality |
| prefrontal cortex | UBERON:0000451 | 55.86 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 54.73 | gold quality |
| deltoid | UBERON:0001476 | 54.35 | silver quality |
| tendon | UBERON:0000043 | 54.06 | silver quality |
| right adrenal gland | UBERON:0001233 | 53.81 | gold quality |
| left adrenal gland | UBERON:0001234 | 53.32 | gold quality |
| lower lobe of lung | UBERON:0008949 | 53.12 | gold quality |
| islet of Langerhans | UBERON:0000006 | 52.73 | gold quality |
| calcaneal tendon | UBERON:0003701 | 52.39 | silver quality |
| left adrenal gland cortex | UBERON:0035825 | 52.11 | gold quality |
| quadriceps femoris | UBERON:0001377 | 52.07 | gold quality |
| adrenal cortex | UBERON:0001235 | 51.78 | gold quality |
| bone marrow cell | CL:0002092 | 51.66 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.45 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
22 targeting ADAM21, 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-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-1321 | 99.84 | 65.30 | 1811 |
| HSA-MIR-4739 | 99.84 | 65.25 | 1832 |
| HSA-MIR-4756-5P | 99.84 | 64.98 | 1809 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-6505-5P | 99.73 | 69.25 | 1595 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-10393-3P | 99.72 | 66.56 | 961 |
| HSA-MIR-6801-5P | 99.72 | 66.50 | 981 |
| HSA-MIR-33A-3P | 99.70 | 70.27 | 3362 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-5700 | 99.64 | 69.88 | 2280 |
| HSA-MIR-6507-5P | 99.36 | 70.46 | 2524 |
| HSA-MIR-1301-3P | 98.64 | 68.27 | 1071 |
| HSA-MIR-5047 | 98.64 | 68.62 | 1035 |
| HSA-MIR-5011-3P | 98.63 | 64.81 | 638 |
| HSA-MIR-9500 | 98.62 | 66.54 | 1845 |
| HSA-MIR-4536-5P | 98.47 | 64.39 | 657 |
| HSA-MIR-12128 | 96.67 | 66.98 | 1471 |
Literature-anchored findings (GeneRIF, showing 1)
- ADAM21 was overexpressed in KYN-2 hepatocellular carcinoma (HCC) cell line, and its knockdown reduced invasion, migration, proliferation, and metastasis relative to controls. In HCC clinical specimens, ADAM21 positivity was associated with vascular invasion, large tumor size, high histological grade, and lower overall and recurrence-free survival as compared to cases that were negative for ADAM21 expression. (PMID:29138461)
Cross-species orthologs
10 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | adam10b | ENSDARG00000015502 |
| danio_rerio | adam10a | ENSDARG00000053468 |
| danio_rerio | adam9b | ENSDARG00000057138 |
| danio_rerio | si:ch1073-396h14.1 | ENSDARG00000057590 |
| mus_musculus | Adam21 | ENSMUSG00000008438 |
| rattus_norvegicus | LOC103690152 | ENSRNOG00000047682 |
| drosophila_melanogaster | mmd | FBGN0259110 |
| drosophila_melanogaster | kuz | FBGN0259984 |
| caenorhabditis_elegans | sup-17 | WBGENE00006324 |
| caenorhabditis_elegans | WBGENE00006804 |
Paralogs (20): ADAM22 (ENSG00000008277), ADAM28 (ENSG00000042980), ADAM7 (ENSG00000069206), ADAM11 (ENSG00000073670), ADAM2 (ENSG00000104755), ADAM23 (ENSG00000114948), ADAM20 (ENSG00000134007), ADAMDEC1 (ENSG00000134028), ADAM30 (ENSG00000134249), ADAM19 (ENSG00000135074), ADAM10 (ENSG00000137845), ADAM15 (ENSG00000143537), ADAM12 (ENSG00000148848), ADAM33 (ENSG00000149451), ADAM8 (ENSG00000151651), ADAM17 (ENSG00000151694), ADAM29 (ENSG00000168594), ADAM9 (ENSG00000168615), ADAM18 (ENSG00000168619), ADAM32 (ENSG00000197140)
Protein
Protein identifiers
Disintegrin and metalloproteinase domain-containing protein 21 — Q9UKJ8 (reviewed: Q9UKJ8)
All UniProt accessions (1): Q9UKJ8
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in sperm maturation and/or fertilization. May also be involved in epithelia functions associated with establishing and maintaining gradients of ions or nutrients.
Subcellular location. Membrane.
Post-translational modifications. Has no obvious cleavage site for furin endopeptidase, suggesting that the proteolytic processing is regulated.
Cofactor. Binds 1 zinc ion per subunit.
Domain organisation. A tripeptide motif (VGE) within disintegrin-like domain could be involved in the binding to egg integrin receptor and thus could mediate sperm/egg binding. The cysteine-rich domain encodes putative cell-fusion peptides, which could be involved in sperm-egg fusion. The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
Miscellaneous. May be the functional equivalent of ADAM 1/fertilin alpha which is a pseudogene in human.
RefSeq proteins (1): NP_003804* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000742 | EGF | Domain |
| IPR001590 | Peptidase_M12B | Domain |
| IPR001762 | Disintegrin_dom | Domain |
| IPR002870 | Peptidase_M12B_N | Domain |
| IPR006586 | ADAM_Cys-rich | Domain |
| IPR018358 | Disintegrin_CS | Conserved_site |
| IPR024079 | MetalloPept_cat_dom_sf | Homologous_superfamily |
| IPR034027 | Reprolysin_adamalysin | Domain |
| IPR036436 | Disintegrin_dom_sf | Homologous_superfamily |
Pfam: PF00200, PF01421, PF01562, PF08516
UniProt features (35 total): glycosylation site 7, disulfide bond 7, sequence conflict 6, binding site 4, domain 3, topological domain 2, signal peptide 1, propeptide 1, active site 1, chain 1, transmembrane region 1, short sequence motif 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UKJ8-F1 | 83.17 | 0.48 |
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 (1): 342
Ligand- & substrate-binding residues (4): 173 (in inhibited form); 341; 345; 351
Disulfide bonds (7): 316–393, 356–378, 358–363, 464–484, 634–645, 639–651, 653–662
Glycosylation sites (7): 164, 227, 377, 437, 478, 546, 600
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-2534343 | Interaction With Cumulus Cells And The Zona Pellucida |
| R-HSA-1187000 | Fertilization |
| R-HSA-1474165 | Reproduction |
MSigDB gene sets: 60 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, GOBP_SINGLE_FERTILIZATION, GOMF_METALLOPEPTIDASE_ACTIVITY, XU_HGF_TARGETS_REPRESSED_BY_AKT1_DN, GOCC_CELL_SURFACE, chr14q24, GOBP_REPRODUCTIVE_SYSTEM_DEVELOPMENT, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_SEX_DIFFERENTIATION, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOCC_NEURON_PROJECTION, GOBP_FERTILIZATION, GOBP_MALE_SEX_DIFFERENTIATION, GOBP_DEVELOPMENT_OF_PRIMARY_SEXUAL_CHARACTERISTICS, GOCC_SIDE_OF_MEMBRANE
GO Biological Process (3): proteolysis (GO:0006508), single fertilization (GO:0007338), male gonad development (GO:0008584)
GO Molecular Function (6): metalloendopeptidase activity (GO:0004222), metallopeptidase activity (GO:0008237), metal ion binding (GO:0046872), protein binding (GO:0005515), peptidase activity (GO:0008233), hydrolase activity (GO:0016787)
GO Cellular Component (7): plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), axon (GO:0030424), neuronal cell body (GO:0043025), sperm head plasma membrane (GO:1990913), membrane (GO:0016020), neuron projection (GO:0043005)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Fertilization | 1 |
| Reproduction | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein metabolic process | 1 |
| fertilization | 1 |
| gonad development | 1 |
| development of primary male sexual characteristics | 1 |
| endopeptidase activity | 1 |
| metallopeptidase activity | 1 |
| peptidase activity | 1 |
| cation binding | 1 |
| binding | 1 |
| hydrolase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| catalytic activity | 1 |
| membrane | 1 |
| cell periphery | 1 |
| plasma membrane | 1 |
| cell surface | 1 |
| side of membrane | 1 |
| neuron projection | 1 |
| somatodendritic compartment | 1 |
| cell body | 1 |
| sperm head | 1 |
| sperm plasma membrane | 1 |
| plasma membrane region | 1 |
| cellular anatomical structure | 1 |
| plasma membrane bounded cell projection | 1 |
Protein interactions and networks
STRING
466 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ADAM21 | TEX55 | Q96M34 | 433 |
| ADAM21 | OR2T27 | Q8NH04 | 400 |
| ADAM21 | MAGEB6B | A0A0J9YX57 | 394 |
| ADAM21 | A0A087WYV9 | A0A087WYV9 | 392 |
| ADAM21 | FAM228A | Q86W67 | 370 |
| ADAM21 | CNBD2 | Q96M20 | 351 |
| ADAM21 | KRT38 | O76015 | 348 |
| ADAM21 | PRSS54 | Q6PEW0 | 325 |
| ADAM21 | IQCF1 | Q8N6M8 | 324 |
| ADAM21 | ADAMTSL5 | Q6ZMM2 | 323 |
| ADAM21 | TEKTIP1 | A6NCJ1 | 323 |
| ADAM21 | ADAMTSL2 | Q86TH1 | 321 |
| ADAM21 | PLEKHD1 | A6NEE1 | 320 |
| ADAM21 | PRSS55 | Q6UWB4 | 313 |
| ADAM21 | SYNJ2BP | P57105 | 306 |
| ADAM21 | COX16 | Q9P0S2 | 306 |
IntAct
43 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CRIPTO | AIP | psi-mi:“MI:0914”(association) | 0.640 |
| SGTA | ADAM21 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CNR2 | ADAM21 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCGB1D1 | FAM234B | psi-mi:“MI:0914”(association) | 0.530 |
| ADAM21 | PLXNA2 | psi-mi:“MI:0914”(association) | 0.530 |
| CTSG | MANBA | psi-mi:“MI:0914”(association) | 0.530 |
| ADAMTS4 | MANBA | psi-mi:“MI:0914”(association) | 0.530 |
| FGA | ADAM21 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ADAM21 | PLXNB2 | psi-mi:“MI:0914”(association) | 0.350 |
| PATE1 | MANBA | psi-mi:“MI:0914”(association) | 0.350 |
| APOM | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| HLA-G | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| BTNL2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| SFTPC | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| BRICD5 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| LY86 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| GML | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM87A | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| CD48 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| LDLRAD1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.350 |
| PRG2 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| CST9L | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| RLN1 | MANBA | psi-mi:“MI:0914”(association) | 0.350 |
| GGH | MANBA | psi-mi:“MI:0914”(association) | 0.350 |
| LYZL1 | MAN2B1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLURP1 | MAN2B1 | psi-mi:“MI:0914”(association) | 0.350 |
| CLEC2B | ADAM10 | psi-mi:“MI:0914”(association) | 0.350 |
| SIRPD | ADAM10 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (82): PCSK1N (Affinity Capture-MS), VEGFB (Affinity Capture-MS), ADAM21 (Affinity Capture-MS), AMIGO1 (Affinity Capture-MS), HLA-B (Affinity Capture-MS), EGFL7 (Affinity Capture-MS), ITGB5 (Affinity Capture-MS), GNB2 (Affinity Capture-MS), CANX (Affinity Capture-MS), DHFRL1 (Affinity Capture-MS), PLXNA2 (Affinity Capture-MS), LRRC3 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), LCLAT1 (Affinity Capture-MS), MANF (Affinity Capture-MS)
ESM2 similar proteins: A1A547, A6QPN6, D2GZV9, E1BPW0, O18956, O75356, O75594, O93295, P10852, P15396, P22413, P49961, P55772, P57110, P70665, P82450, P97535, P97687, Q0V8L2, Q0VB07, Q53H76, Q58CQ9, Q5E9H0, Q5R5M5, Q5RBQ5, Q5RFU0, Q67BJ4, Q6P6S9, Q6YGZ1, Q71RP1, Q794F9, Q8K0L2, Q8TE60, Q8VI78, Q95194, Q96LB8, Q96LB9, Q99JP7, Q99MZ4, Q9HAT2
Diamond homologs: A3R0T9, A8QL59, B8K1W0, C5FUK3, C5H5D1, C5H5D3, C5H5D5, C5H5D6, D3TTC1, D4B1G0, D4DCV9, D6PXE8, F8RKW1, F8VQ03, G5EDW5, O14672, O35598, O35674, O42138, O43184, O73795, O77633, O93517, O93518, O93523, P0C6E3, P0C6R9, P0DJ87, P0DM87, P15503, P17497, P82942, P83912, P86092, P97776, Q05910, Q076D1, Q0NZX7, Q0NZY0, Q10741
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 53 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 |
|---|---|---|---|
| Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) | 5 | 12.0× | 6e-03 |
| Neutrophil degranulation | 8 | 5.1× | 8e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
114 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 99 |
| Likely benign | 9 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
73 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:70452260:GATG:G | donor_gain | 1.0000 |
| 14:70452264:G:GA | donor_loss | 1.0000 |
| 14:70452264:G:GG | donor_gain | 1.0000 |
| 14:70452261:ATG:A | donor_gain | 0.9900 |
| 14:70452262:TG:T | donor_gain | 0.9900 |
| 14:70452263:GG:G | donor_gain | 0.9900 |
| 14:70452265:TAA:T | donor_loss | 0.9900 |
| 14:70452259:TGATG:T | donor_gain | 0.9800 |
| 14:70452260:GATGG:G | donor_gain | 0.9800 |
| 14:70457347:A:AG | acceptor_gain | 0.9600 |
| 14:70457348:G:GG | acceptor_gain | 0.9600 |
| 14:70457348:GC:G | acceptor_gain | 0.9500 |
| 14:70457348:GCA:G | acceptor_gain | 0.9500 |
| 14:70457344:TCCA:T | acceptor_loss | 0.9400 |
| 14:70457346:CA:C | acceptor_loss | 0.9400 |
| 14:70457347:A:AC | acceptor_loss | 0.9400 |
| 14:70455260:C:T | donor_gain | 0.9100 |
| 14:70457341:A:AG | acceptor_gain | 0.9000 |
| 14:70457348:GCACT:G | acceptor_gain | 0.9000 |
| 14:70457348:GCAC:G | acceptor_gain | 0.8700 |
| 14:70457342:C:G | acceptor_gain | 0.8400 |
| 14:70457346:CAGCA:C | acceptor_gain | 0.8000 |
| 14:70457350:A:AG | acceptor_gain | 0.7800 |
| 14:70457345:CCAG:C | acceptor_gain | 0.7600 |
| 14:70457347:AGCA:A | acceptor_gain | 0.7600 |
| 14:70457350:ACT:A | acceptor_gain | 0.7500 |
| 14:70457351:C:G | acceptor_gain | 0.7500 |
| 14:70457344:TCCAG:T | acceptor_gain | 0.7300 |
| 14:70457336:T:G | acceptor_gain | 0.7200 |
| 14:70457348:G:T | acceptor_gain | 0.6900 |
AlphaMissense
4811 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:70458634:A:C | S379R | 0.979 |
| 14:70458636:T:A | S379R | 0.979 |
| 14:70458636:T:G | S379R | 0.979 |
| 14:70458622:T:C | F375L | 0.964 |
| 14:70458624:C:A | F375L | 0.964 |
| 14:70458624:C:G | F375L | 0.964 |
| 14:70458594:G:A | M365I | 0.961 |
| 14:70458594:G:C | M365I | 0.961 |
| 14:70458594:G:T | M365I | 0.961 |
| 14:70459483:T:A | C662S | 0.958 |
| 14:70459484:G:C | C662S | 0.958 |
| 14:70458545:T:C | M349T | 0.953 |
| 14:70459456:T:A | C653S | 0.950 |
| 14:70459457:G:C | C653S | 0.950 |
| 14:70459450:T:A | C651S | 0.948 |
| 14:70459451:G:C | C651S | 0.948 |
| 14:70458506:C:A | A336D | 0.945 |
| 14:70459414:T:A | C639S | 0.943 |
| 14:70459415:G:C | C639S | 0.943 |
| 14:70459507:A:C | S670R | 0.940 |
| 14:70459509:T:A | S670R | 0.940 |
| 14:70459509:T:G | S670R | 0.940 |
| 14:70458910:T:A | C471S | 0.939 |
| 14:70458911:G:C | C471S | 0.939 |
| 14:70458917:T:C | L473P | 0.939 |
| 14:70458928:T:A | C477S | 0.939 |
| 14:70458929:G:C | C477S | 0.939 |
| 14:70458927:G:C | W476C | 0.936 |
| 14:70458927:G:T | W476C | 0.936 |
| 14:70458949:T:A | C484S | 0.933 |
dbSNP variants (sampled 300 via entrez): RS1000380098 (14:70452409 A>G), RS1004111235 (14:70450440 T>G), RS1004322370 (14:70455008 G>A), RS1004375011 (14:70454525 A>C), RS1004484799 (14:70450782 C>T), RS1005330924 (14:70456516 G>A), RS1005795022 (14:70456143 CAAA>C,CAA,CAAAA), RS1006140468 (14:70451608 C>G), RS1007728283 (14:70452112 G>A), RS1007876905 (14:70457814 C>T), RS1007877310 (14:70451132 G>A), RS1007908422 (14:70450866 C>A), RS1008681713 (14:70453525 A>G), RS1008734016 (14:70453263 A>G), RS1008785229 (14:70459783 A>G,T)
Disease associations
OMIM: gene MIM:603713 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004362_1 | Plasma estrone levels in resected estrogen-receptor positive breast cancer | 1.000000e-06 |
| GCST012137_4 | Motor coordination | 2.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007970 | estrone measurement |
| EFO:0010749 | motor function measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — M12: Astacin/Adamalysin
CTD chemical–gene interactions
17 total (human), top 17 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 2 |
| Benzo(a)pyrene | decreases expression, increases methylation | 2 |
| testosterone enanthate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| 2,4,5,2’,4’,5’-hexachlorobiphenyl | increases expression | 1 |
| sulforaphane | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Lipopolysaccharides | affects response to substance, increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
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.