ADAM2
gene geneOn this page
Also known as PH-30bPH30CT15
Summary
ADAM2 (ADAM metallopeptidase domain 2, HGNC:198) is a protein-coding gene on chromosome 8p11.22, encoding Disintegrin and metalloproteinase domain-containing protein 2 (Q99965). Sperm surface membrane protein that may be involved in sperm-egg plasma membrane adhesion and fusion during 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 encoded protein is a subunit of an integral sperm membrane glycoprotein called fertilin, which plays an important role in sperm-egg interactions. Alternative splicing results in multiple transcript variants encoding different isoforms.
Source: NCBI Gene 2515 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 116 total — 1 pathogenic
- MANE Select transcript:
NM_001464
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:198 |
| Approved symbol | ADAM2 |
| Name | ADAM metallopeptidase domain 2 |
| Location | 8p11.22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PH-30b, PH30, CT15 |
| Ensembl gene | ENSG00000104755 |
| Ensembl biotype | protein_coding |
| OMIM | 601533 |
| Entrez | 2515 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 4 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000265708, ENST00000347580, ENST00000379853, ENST00000520434, ENST00000521880, ENST00000523181
RefSeq mRNA: 3 — MANE Select: NM_001464
NM_001278113, NM_001278114, NM_001464
CCDS: CCDS34884, CCDS64882, CCDS64883
Canonical transcript exons
ENST00000265708 — 21 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000689500 | 39788085 | 39788251 |
| ENSE00000689502 | 39786974 | 39787055 |
| ENSE00000689504 | 39777025 | 39777161 |
| ENSE00000689518 | 39755728 | 39755911 |
| ENSE00000689522 | 39749667 | 39749744 |
| ENSE00000689527 | 39749312 | 39749450 |
| ENSE00001040070 | 39746472 | 39746631 |
| ENSE00001196410 | 39761176 | 39761281 |
| ENSE00001196413 | 39766848 | 39767043 |
| ENSE00001305886 | 39744830 | 39744893 |
| ENSE00001330826 | 39809410 | 39809466 |
| ENSE00001382689 | 39788669 | 39788740 |
| ENSE00002111556 | 39743735 | 39744064 |
| ENSE00002122139 | 39838131 | 39838227 |
| ENSE00003523790 | 39821586 | 39821662 |
| ENSE00003532519 | 39821002 | 39821170 |
| ENSE00003617320 | 39769392 | 39769575 |
| ENSE00003619233 | 39824819 | 39824897 |
| ENSE00003623490 | 39767153 | 39767251 |
| ENSE00003649906 | 39837136 | 39837212 |
| ENSE00003671343 | 39833944 | 39833999 |
Expression profiles
Bgee: expression breadth broad, 34 present calls, max score 88.08.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1659 / max 106.9071, expressed in 50 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 92780 | 0.0926 | 3 |
| 92779 | 0.0550 | 47 |
| 92781 | 0.0183 | 3 |
Top tissues by expression
96 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| testis | UBERON:0000473 | 88.08 | gold quality |
| left testis | UBERON:0004533 | 87.87 | gold quality |
| right testis | UBERON:0004534 | 87.30 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.12 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 61.15 | gold quality |
| colonic epithelium | UBERON:0000397 | 37.20 | gold quality |
| placenta | UBERON:0001987 | 37.15 | gold quality |
| granulocyte | CL:0000094 | 37.11 | gold quality |
| ventricular zone | UBERON:0003053 | 36.48 | gold quality |
| cortical plate | UBERON:0005343 | 36.47 | gold quality |
| bone marrow cell | CL:0002092 | 36.16 | gold quality |
| ganglionic eminence | UBERON:0004023 | 35.49 | gold quality |
| monocyte | CL:0000576 | 34.45 | silver quality |
| leukocyte | CL:0000738 | 34.41 | silver quality |
| right coronary artery | UBERON:0001625 | 34.11 | gold quality |
| endometrium | UBERON:0001295 | 33.72 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 33.38 | gold quality |
| prostate gland | UBERON:0002367 | 33.00 | gold quality |
| bone marrow | UBERON:0002371 | 31.74 | gold quality |
| muscle tissue | UBERON:0002385 | 31.06 | gold quality |
| vermiform appendix | UBERON:0001154 | 30.93 | gold quality |
| sural nerve | UBERON:0015488 | 30.93 | gold quality |
| tonsil | UBERON:0002372 | 30.23 | gold quality |
| ectocervix | UBERON:0012249 | 30.22 | gold quality |
| liver | UBERON:0002107 | 30.13 | gold quality |
| stromal cell of endometrium | CL:0002255 | 29.87 | gold quality |
| prefrontal cortex | UBERON:0000451 | 29.43 | silver quality |
| metanephros cortex | UBERON:0010533 | 29.24 | silver quality |
| hypothalamus | UBERON:0001898 | 29.21 | gold quality |
| kidney | UBERON:0002113 | 29.13 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.82 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AHR, AP1, AR, ATF2, ATF4, BARX1, BCL6, CDX2, CEBPA, CEBPB, CEBPD, CEBPG, CREB1, CREM, CRX, CTNNB1, CUX1, DNMT1, E2F1, E2F6, EGR1, EGR2, ESR1, ESR2, ESRRA, ETS1, ETS2, EZH2, FLI1, FOS, FOSB, FOXA1, FOXA2, FOXC2, FOXH1, FOXM1, FOXO1, FOXP3, GABPA, GATA1
miRNA regulators (miRDB)
26 targeting ADAM2, 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-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-3660 | 99.68 | 67.33 | 1149 |
| HSA-MIR-4526 | 99.68 | 67.07 | 1136 |
| HSA-MIR-888-3P | 99.53 | 69.77 | 1057 |
| HSA-MIR-203A-3P | 99.49 | 70.56 | 2806 |
| HSA-MIR-194-5P | 99.01 | 69.65 | 1465 |
| HSA-MIR-3145-3P | 98.85 | 69.07 | 2031 |
| HSA-MIR-6840-3P | 98.68 | 65.95 | 1923 |
| HSA-MIR-934 | 98.49 | 70.44 | 581 |
| HSA-MIR-2681-3P | 98.18 | 65.28 | 577 |
| HSA-MIR-6884-3P | 98.05 | 65.32 | 750 |
| HSA-MIR-96-3P | 97.47 | 68.03 | 839 |
| HSA-MIR-517-5P | 97.13 | 68.43 | 781 |
| HSA-MIR-624-5P | 96.00 | 68.88 | 728 |
| HSA-MIR-5684 | 93.17 | 64.85 | 454 |
Literature-anchored findings (GeneRIF, showing 14)
- CG17836/Xrp1 is involved in the regulation of cell proliferation in eye discs and affects disc identity specification. (PMID:23391928)
- Xrp1 induction in Rp mutant cells depends on a particular Rp with regulatory effects (PMID:30078730)
- Xrp1 knockdown substantially rescued the motor deficits and life span of flies expressing ALS mutant FUS in motor neurons, implicating gene expression dysregulation in ALS-FUS pathogenesis. (PMID:30209068)
- demonstrates that RpS12, Xrp1, and Dilp8 form an independent regulatory module that ensures intra- and inter-organ growth coordination during development (PMID:31006647)
- Findings provide clear molecular and genetic evidence that RpS12 plays a central and early role in generating multiple aspects of the Ribosomal Protein (Rp)+/- phenotype in imaginal discs by activating Xrp1 expression and activity. (PMID:31841522)
- Roles of C/EBP class bZip proteins in the growth and cell competition of Rp (‘Minute’) mutants in Drosophila. (PMID:31909714)
- The transcription factor Xrp1 is required for PERK-mediated antioxidant gene induction in Drosophila. (PMID:34605405)
- Cell competition is driven by Xrp1-mediated phosphorylation of eukaryotic initiation factor 2alpha. (PMID:34871307)
- Xrp1 and Irbp18 trigger a feed-forward loop of proteotoxic stress to induce the loser status. (PMID:34914692)
- Xrp1 governs the stress response program to spliceosome dysfunction. (PMID:38303573)
- The fertilin beta contributes not only to successful fertilization, but may has an important impact in development of preimplantation embryos. (PMID:18292840)
- ADAM2, CALR3 and SAGE1 cancer/testis antigens are not promising targets for immunotherapy of breast and lung cancer. (PMID:26252478)
- Assessing the potential of HSPA2 and ADAM2 as two biomarkers for human sperm selection. (PMID:30463455)
- Is there a relationship between infertility and fertilin beta protein distribution? (PMID:35933293)
Cross-species orthologs
9 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | adam10b | ENSDARG00000015502 |
| danio_rerio | adam10a | ENSDARG00000053468 |
| danio_rerio | adam9b | ENSDARG00000057138 |
| mus_musculus | Adam2 | ENSMUSG00000022039 |
| rattus_norvegicus | Adam2 | ENSRNOG00000017027 |
| 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), ADAM23 (ENSG00000114948), ADAM20 (ENSG00000134007), ADAMDEC1 (ENSG00000134028), ADAM30 (ENSG00000134249), ADAM19 (ENSG00000135074), ADAM10 (ENSG00000137845), ADAM21 (ENSG00000139985), 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 2 — Q99965 (reviewed: Q99965)
Alternative names: Cancer/testis antigen 15, Fertilin subunit beta, PH-30, PH30-beta
All UniProt accessions (3): B4DWY7, Q99965, Q6P2G0
UniProt curated annotations — full annotation on UniProt →
Function. Sperm surface membrane protein that may be involved in sperm-egg plasma membrane adhesion and fusion during fertilization. Could have a direct role in sperm-zona binding or migration of sperm from the uterus into the oviduct. Interactions with egg membrane could be mediated via binding between its disintegrin-like domain to one or more integrins receptors on the egg. This is a non catalytic metalloprotease-like protein.
Subcellular location. Membrane.
Tissue specificity. Expressed specifically in spermatogenic cells in the seminiferous cells. Not detected in fetal tissues.
Post-translational modifications. The prodomain and the metalloprotease domain are cleaved during the epididymal maturation of the spermatozoa.
Domain organisation. A tripeptide motif (FEE) within disintegrin-like domain could be involved in the binding to egg integrin receptor and thus could mediate sperm/egg binding.
Miscellaneous. In mammals, exists as a heterodimer composed of an alpha and beta subunits. In human, fertilin subunit alpha is a pseudogene.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q99965-1 | 1 | yes |
| Q99965-2 | 2 |
RefSeq proteins (3): NP_001265042, NP_001265043, NP_001455* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| 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 (40 total): sequence conflict 16, disulfide bond 7, glycosylation site 5, domain 3, topological domain 2, signal peptide 1, propeptide 1, chain 1, splice variant 1, sequence variant 1, transmembrane region 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q99965-F1 | 81.05 | 0.47 |
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): 729
Disulfide bonds (7): 287–370, 329–354, 331–336, 445–465, 616–627, 621–633, 635–644
Glycosylation sites (5): 122, 220, 353, 459, 566
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: 103 (showing top):
GOBP_SINGLE_FERTILIZATION, GOBP_COGNITION, GOBP_BEHAVIOR, GOMF_METALLOPEPTIDASE_ACTIVITY, GOBP_ADULT_BEHAVIOR, GOBP_ASSOCIATIVE_LEARNING, GOBP_MEMBRANE_FUSION, GOBP_PLASMA_MEMBRANE_ORGANIZATION, GOCC_CELL_SURFACE, PID_INTEGRIN_A9B1_PATHWAY, GOBP_REPRODUCTIVE_SYSTEM_DEVELOPMENT, GOBP_LEARNING, GOBP_SPERM_EGG_RECOGNITION, MODULE_99, GOBP_RESPONSE_TO_RADIATION
GO Biological Process (10): proteolysis (GO:0006508), cell adhesion (GO:0007155), binding of sperm to zona pellucida (GO:0007339), fusion of sperm to egg plasma membrane involved in single fertilization (GO:0007342), visual learning (GO:0008542), male gonad development (GO:0008584), gene expression (GO:0010467), positive regulation of gene expression (GO:0010628), adult behavior (GO:0030534), integrin-mediated signaling pathway (GO:0007229)
GO Molecular Function (3): metalloendopeptidase activity (GO:0004222), integrin binding (GO:0005178), metallopeptidase activity (GO:0008237)
GO Cellular Component (4): plasma membrane (GO:0005886), cell surface (GO:0009986), protein-containing complex (GO:0032991), membrane (GO:0016020)
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 |
|---|---|
| cellular anatomical structure | 2 |
| protein metabolic process | 1 |
| cellular process | 1 |
| sperm-egg recognition | 1 |
| single fertilization | 1 |
| cellular process involved in reproduction in multicellular organism | 1 |
| visual behavior | 1 |
| associative learning | 1 |
| gonad development | 1 |
| development of primary male sexual characteristics | 1 |
| macromolecule biosynthetic process | 1 |
| gene expression | 1 |
| regulation of gene expression | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| behavior | 1 |
| cell surface receptor signaling pathway | 1 |
| endopeptidase activity | 1 |
| metallopeptidase activity | 1 |
| signaling receptor binding | 1 |
| protein-containing complex binding | 1 |
| cell adhesion molecule binding | 1 |
| peptidase activity | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular_component | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ADAM2 | ADAMTS2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (13): ASPHD2 (Affinity Capture-MS), C6orf120 (Affinity Capture-MS), ADAMTS2 (Affinity Capture-MS), LRRC3 (Affinity Capture-MS), TTN (Affinity Capture-MS), LCLAT1 (Affinity Capture-MS), ADAM2 (Affinity Capture-Western), ASPHD2 (Affinity Capture-MS), LRRC3 (Affinity Capture-MS), C6orf120 (Affinity Capture-MS), ADAMTS2 (Affinity Capture-MS), ADAM9 (Negative Genetic), EEF2 (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: F8VQ03, O15072, O15204, O35227, O77780, P58397, P59509, P59510, P70505, P97776, P97857, Q1EHB3, Q28475, Q28478, Q28483, Q28660, Q3TTE0, Q5BK84, Q60411, Q60472, Q60718, Q60813, Q63180, Q63202, Q68SA9, Q811B3, Q811Q4, Q8C9W3, Q8K410, Q8N2E2, Q8R534, Q8TC27, Q8TE59, Q99965, Q9H2U9, Q9JI76, Q9JLN6, Q9R0X2, Q9R157, Q9R158
Diamond homologs: A2CJE2, A2CJE3, A2CJE4, A8QL59, C0LZJ5, C5FUK3, D4B1G0, D4DCV9, E9NW26, F8VQ03, G5EFD5, J3S830, O13766, O35227, O42596, O73795, O75077, O75078, O77780, O93515, O93517, O93518, P0C6B6, P0C6E3, P0C6R9, P0C7B0, P0DJ87, P0DM87, P17497, P23323, P31989, P83912, Q05910, Q0NZX6, Q0NZX7, Q0NZX8, Q0NZX9, Q0NZY0, Q13443, Q13444
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
116 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 102 |
| Likely benign | 7 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 59783 | GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3 | Pathogenic |
SpliceAI
3963 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:39744828:A:AC | donor_gain | 1.0000 |
| 8:39744829:C:CC | donor_gain | 1.0000 |
| 8:39761174:A:AC | donor_gain | 1.0000 |
| 8:39761175:C:CC | donor_gain | 1.0000 |
| 8:39761175:CTCAG:C | donor_gain | 1.0000 |
| 8:39761179:G:C | donor_gain | 1.0000 |
| 8:39767151:A:AC | donor_gain | 1.0000 |
| 8:39767152:C:CC | donor_gain | 1.0000 |
| 8:39767152:CTAGA:C | donor_gain | 1.0000 |
| 8:39786986:T:TA | donor_gain | 1.0000 |
| 8:39790750:T:TA | donor_gain | 1.0000 |
| 8:39817967:T:TA | donor_gain | 1.0000 |
| 8:39817968:C:A | donor_gain | 1.0000 |
| 8:39833942:A:AC | donor_gain | 1.0000 |
| 8:39833943:C:CC | donor_gain | 1.0000 |
| 8:39834012:CACAG:C | acceptor_gain | 1.0000 |
| 8:39834016:G:GC | acceptor_gain | 1.0000 |
| 8:39834022:A:AC | acceptor_gain | 1.0000 |
| 8:39834022:A:C | acceptor_gain | 1.0000 |
| 8:39837130:CATTA:C | donor_loss | 1.0000 |
| 8:39837131:ATTAC:A | donor_loss | 1.0000 |
| 8:39837132:TTACC:T | donor_loss | 1.0000 |
| 8:39837133:TAC:T | donor_loss | 1.0000 |
| 8:39837134:A:C | donor_loss | 1.0000 |
| 8:39837152:T:TA | donor_gain | 1.0000 |
| 8:39837213:C:CC | acceptor_gain | 1.0000 |
| 8:39838129:A:AC | donor_gain | 1.0000 |
| 8:39838130:C:CC | donor_gain | 1.0000 |
| 8:39838130:CTA:C | donor_gain | 1.0000 |
| 8:39744065:C:CC | acceptor_gain | 0.9900 |
AlphaMissense
4895 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:39749446:C:G | C627S | 0.998 |
| 8:39749447:A:T | C627S | 0.998 |
| 8:39766868:C:G | C496S | 0.998 |
| 8:39766869:A:T | C496S | 0.998 |
| 8:39749680:C:G | C621S | 0.997 |
| 8:39749681:A:T | C621S | 0.997 |
| 8:39755900:C:G | C542S | 0.997 |
| 8:39755901:A:T | C542S | 0.997 |
| 8:39761185:C:G | C535S | 0.997 |
| 8:39761186:A:T | C535S | 0.997 |
| 8:39766982:C:G | C458S | 0.997 |
| 8:39766983:A:T | C458S | 0.997 |
| 8:39749428:C:G | C633S | 0.996 |
| 8:39749429:A:T | C633S | 0.996 |
| 8:39749740:C:G | C601S | 0.996 |
| 8:39749741:A:T | C601S | 0.996 |
| 8:39755741:C:G | C595S | 0.996 |
| 8:39755742:A:T | C595S | 0.996 |
| 8:39755810:C:G | C572S | 0.996 |
| 8:39755811:A:T | C572S | 0.996 |
| 8:39755885:C:G | C547S | 0.996 |
| 8:39755886:A:T | C547S | 0.996 |
| 8:39761257:C:G | C511S | 0.996 |
| 8:39761258:A:T | C511S | 0.996 |
| 8:39766889:C:G | C489S | 0.996 |
| 8:39766890:A:T | C489S | 0.996 |
| 8:39766904:C:G | C484S | 0.996 |
| 8:39766905:A:T | C484S | 0.996 |
| 8:39766961:C:G | C465S | 0.996 |
| 8:39766962:A:T | C465S | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000032713 (8:39760758 G>T), RS1000096148 (8:39785831 T>A), RS1000146245 (8:39800621 T>G), RS1000148409 (8:39828868 C>T), RS1000178366 (8:39800892 C>T), RS1000183252 (8:39754303 C>T), RS1000205684 (8:39780264 C>A,T), RS1000213683 (8:39794739 C>T), RS1000224262 (8:39783794 TACAA>T), RS1000273591 (8:39837737 G>C), RS1000278017 (8:39765338 T>C), RS1000303318 (8:39838034 G>A), RS1000319684 (8:39754620 T>C), RS1000383705 (8:39831561 G>C), RS1000410405 (8:39806257 G>T)
Disease associations
OMIM: gene MIM:601533 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): breast ductal adenocarcinoma (MONDO:0005590)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005042_10 | Restless legs syndrome | 2.000000e-34 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D018270 | Carcinoma, Ductal, Breast | C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390 |
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
9 total (human), top 9 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| zinc chloride | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Calcitriol | decreases expression, affects cotreatment | 1 |
| Folic Acid | decreases expression | 1 |
| Testosterone | affects cotreatment, decreases expression | 1 |
| Zinc | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
Clinical trials (associated diseases)
11 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03414970 | PHASE3 | ACTIVE_NOT_RECRUITING | Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer |
| NCT00461344 | PHASE2 | TERMINATED | Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer |
| NCT07499999 | PHASE2 | NOT_YET_RECRUITING | Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer |
| NCT00637364 | PHASE1/PHASE2 | SUSPENDED | High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain |
| NCT02779855 | PHASE1/PHASE2 | COMPLETED | Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer |
| NCT01753908 | EARLY_PHASE1 | COMPLETED | Broccoli Sprout Extract in Treating Patients With Breast Cancer |
| NCT01796041 | EARLY_PHASE1 | COMPLETED | Intraoperative Imaging of Breast Cancer With Indocyanine Green |
| NCT01208974 | Not specified | ACTIVE_NOT_RECRUITING | Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction |
| NCT01875198 | Not specified | TERMINATED | Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer |
| NCT03543397 | Not specified | UNKNOWN | MRI in Ductal Carcinoma in Situ (DCIS) |
| NCT03834532 | Not specified | COMPLETED | Living Well After Breast Surgery |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): restless legs syndrome