ADAM23
gene geneOn this page
Also known as MDC3
Summary
ADAM23 (ADAM metallopeptidase domain 23, HGNC:202) is a protein-coding gene on chromosome 2q33.3, encoding Disintegrin and metalloproteinase domain-containing protein 23 (O75077). May play a role in cell-cell and cell-matrix interactions.
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. It is reported that inactivation of this gene is associated with tumorigenesis in human cancers.
Source: NCBI Gene 8745 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 119 total — 1 pathogenic, 1 likely-pathogenic
- MANE Select transcript:
NM_003812
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:202 |
| Approved symbol | ADAM23 |
| Name | ADAM metallopeptidase domain 23 |
| Location | 2q33.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MDC3 |
| Ensembl gene | ENSG00000114948 |
| Ensembl biotype | protein_coding |
| OMIM | 603710 |
| Entrez | 8745 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 17 protein_coding
ENST00000264377, ENST00000374415, ENST00000444281, ENST00000860076, ENST00000860077, ENST00000919894, ENST00000919895, ENST00000944276, ENST00000944277, ENST00000944278, ENST00000944279, ENST00000944280, ENST00000944281, ENST00000944282, ENST00000944283, ENST00000944284, ENST00000944285
RefSeq mRNA: 2 — MANE Select: NM_003812
NM_001410985, NM_003812
CCDS: CCDS2369, CCDS92936
Canonical transcript exons
ENST00000264377 — 26 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000784971 | 206445307 | 206445524 |
| ENSE00000784972 | 206481232 | 206481308 |
| ENSE00000784973 | 206530885 | 206530948 |
| ENSE00000784974 | 206542052 | 206542134 |
| ENSE00000784975 | 206543253 | 206543316 |
| ENSE00000784976 | 206547429 | 206547501 |
| ENSE00000784977 | 206548281 | 206548354 |
| ENSE00000784978 | 206550095 | 206550160 |
| ENSE00000784979 | 206557427 | 206557498 |
| ENSE00000784980 | 206559955 | 206560118 |
| ENSE00000784981 | 206561128 | 206561212 |
| ENSE00000784982 | 206562203 | 206562293 |
| ENSE00000784983 | 206565020 | 206565068 |
| ENSE00000784984 | 206567223 | 206567322 |
| ENSE00000784985 | 206570740 | 206570811 |
| ENSE00000784986 | 206571727 | 206571816 |
| ENSE00000784987 | 206573115 | 206573195 |
| ENSE00000784991 | 206592617 | 206592736 |
| ENSE00000784992 | 206594737 | 206594905 |
| ENSE00000784993 | 206596051 | 206596162 |
| ENSE00000934666 | 206587325 | 206587375 |
| ENSE00000934667 | 206588091 | 206588154 |
| ENSE00000934668 | 206589409 | 206589514 |
| ENSE00001792196 | 206617579 | 206621127 |
| ENSE00001950784 | 206443532 | 206444080 |
| ENSE00002400920 | 206609910 | 206610000 |
Expression profiles
Bgee: expression breadth ubiquitous, 225 present calls, max score 94.52.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.2418 / max 162.4117, expressed in 1081 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 24829 | 4.7191 | 943 |
| 24830 | 2.9827 | 799 |
| 24832 | 0.2433 | 112 |
| 24833 | 0.2111 | 89 |
| 24837 | 0.0856 | 30 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| Brodmann (1909) area 10 | UBERON:0013541 | 94.52 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 94.16 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 94.01 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 93.34 | gold quality |
| primary visual cortex | UBERON:0002436 | 92.49 | gold quality |
| prefrontal cortex | UBERON:0000451 | 91.78 | gold quality |
| postcentral gyrus | UBERON:0002581 | 91.78 | gold quality |
| cortical plate | UBERON:0005343 | 91.28 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 91.06 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 90.94 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 90.83 | gold quality |
| heart left ventricle | UBERON:0002084 | 90.79 | gold quality |
| cardiac ventricle | UBERON:0002082 | 90.65 | gold quality |
| parietal lobe | UBERON:0001872 | 90.62 | gold quality |
| occipital lobe | UBERON:0002021 | 90.62 | gold quality |
| nucleus accumbens | UBERON:0001882 | 90.50 | gold quality |
| frontal cortex | UBERON:0001870 | 90.44 | gold quality |
| frontal lobe | UBERON:0016525 | 90.44 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 90.30 | gold quality |
| neocortex | UBERON:0001950 | 89.91 | gold quality |
| apex of heart | UBERON:0002098 | 89.46 | gold quality |
| endothelial cell | CL:0000115 | 89.42 | gold quality |
| right frontal lobe | UBERON:0002810 | 88.91 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 88.81 | gold quality |
| cerebral cortex | UBERON:0000956 | 88.56 | gold quality |
| caudate nucleus | UBERON:0001873 | 88.56 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.37 | gold quality |
| cingulate cortex | UBERON:0003027 | 88.13 | gold quality |
| telencephalon | UBERON:0001893 | 88.08 | gold quality |
| pons | UBERON:0000988 | 88.04 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-35 | yes | 87.95 |
| E-ANND-3 | no | 5.69 |
| E-MTAB-9543 | no | 1.22 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): SP1
miRNA regulators (miRDB)
203 targeting ADAM23, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
Literature-anchored findings (GeneRIF, showing 17)
- Together, these results indicate that ADAM23 down-regulation by methylation in brain tumors is a rare event and it may help explain why brain tumor metastases are rarely found elsewhere in the body. (PMID:15862898)
- ADAM23 is frequently silenced in gastric cancers by homozygous deletion or aberrant promoter methylation. (PMID:16103878)
- ADAM23 may be down-regulated by aberrant promoter hypermethylation during the progression of colorectal cancer. (PMID:19089928)
- PrP(C) is a novel molecular partner for ADAM23 in the nervous systems. (PMID:19477226)
- Functional role of ADAM23 during lung caner metastatic progression by negatively modulating alpha(v)beta(3) integrin activation. (PMID:19549921)
- a SP1 binding site (-202/-190) that binds SP1 at the proximal promoter of human ADAM23 gene was indentified. (PMID:20851106)
- The expression level of ADAM23 is likely to be involved in the progression of non-small-cell lung carcinoma, and its downregulation is probably correlated with promoter methylation. (PMID:21429053)
- Intratumoral heterogeneity of ADAM23 promotes tumor growth and metastasis through LGI4 and nitric oxide signals. (PMID:24662834)
- quantification of CXCL12 and ADAM23 methylation could be useful for the prediction of advanced stage of BC (PMID:25620615)
- High ADAM23 gene methylation is associated with gastric tumor aggressiveness. (PMID:25740824)
- Our data provide evidence that ADAM23 plays a role in suppression of cancer cell progression through interaction with aVb3 integrin, and suggest that downregulation of ADAM23 in SP cells may contribute toward providing a cancer stem cell phenotype (PMID:26800504)
- these results support the existence of a second mechanism, alternative to inhibition of protein secretion, by which ADLTE-causing LGI1 mutations exert their loss-of-function effect extracellularly, and suggest that interactions of LGI1 with both ADAM22 and ADAM23 play an important role in the molecular mechanisms leading to utosomal dominant lateral temporal epilepsy (PMID:27760137)
- ADAM23 regulates neuronal differentiation by triggering specific signaling pathways during human neural progenitor cells differentiation. (PMID:28828010)
- Our results demonstrate that ADAM23 expression is likely involved in the progression of epithelial ovarian cancer (PMID:29921495)
- The relationships between the decreased methylation levels of the SNAI2 and ADAM23 genes and cancer de-differentiation and haematogenous dissemination, respectively, indicate novel functions of those genes in the invasive processes. (PMID:30189837)
- Results indicate that ADAM23 is likely involved in breast cancer (BC) progression and dissemination of mesenchymal circulating tumor cells. ADAM23 methylation has the potential to function as a novel prognostic marker. (PMID:30815959)
- Endocytosis of the non-catalytic ADAM23: Recycling and long half-life properties. (PMID:33296662)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | adam23a | ENSDARG00000062323 |
| danio_rerio | ENSDARG00000112453 | |
| mus_musculus | Adam23 | ENSMUSG00000025964 |
| rattus_norvegicus | Adam23 | ENSRNOG00000012424 |
| drosophila_melanogaster | kuz | FBGN0259984 |
| caenorhabditis_elegans | sup-17 | WBGENE00006324 |
Paralogs (20): ADAM22 (ENSG00000008277), ADAM28 (ENSG00000042980), ADAM7 (ENSG00000069206), ADAM11 (ENSG00000073670), ADAM2 (ENSG00000104755), 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 23 — O75077 (reviewed: O75077)
Alternative names: Metalloproteinase-like, disintegrin-like, and cysteine-rich protein 3
All UniProt accessions (3): O75077, E7EWD3, H7C2M6
UniProt curated annotations — full annotation on UniProt →
Function. May play a role in cell-cell and cell-matrix interactions. This is a non-catalytic metalloprotease-like protein.
Subunit / interactions. Can bind to LGI1 and LGI4. Ligand for integrin alpha-V/beta-3.
Subcellular location. Cell membrane Secreted.
Tissue specificity. Highly expressed in the brain and weakly expressed in the heart. In the brain, expressed prominently in the amygdala, caudate nucleus, hypothalamus, thalamus, cerebral cortex and occipital pole.
Domain organisation. A conserved motif AVN[ED]CD within the disintegrin-like domain could be involved in the binding to the integrin receptor.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O75077-1 | Alpha | yes |
| O75077-2 | Beta | |
| O75077-3 | Gamma |
RefSeq proteins (2): NP_001397914, NP_003803* (*=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 |
| IPR013111 | EGF_extracell | Domain |
| IPR024079 | MetalloPept_cat_dom_sf | Homologous_superfamily |
| IPR034027 | Reprolysin_adamalysin | Domain |
| IPR036436 | Disintegrin_dom_sf | Homologous_superfamily |
Pfam: PF00200, PF01421, PF01562, PF07974, PF08516
UniProt features (31 total): glycosylation site 8, disulfide bond 7, domain 3, region of interest 2, compositionally biased region 2, splice variant 2, topological domain 2, signal peptide 1, propeptide 1, chain 1, mutagenesis site 1, transmembrane region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O75077-F1 | 76.38 | 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.
Disulfide bonds (7): 408–491, 450–475, 452–459, 560–580, 736–751, 745–757, 759–768
Glycosylation sites (8): 76, 96, 100, 263, 547, 548, 664, 732
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 566 | significantly lower of adhesion-promoting activity. |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-5682910 | LGI-ADAM interactions |
| R-HSA-1266738 | Developmental Biology |
MSigDB gene sets: 190 (showing top):
GOMF_METALLOPEPTIDASE_ACTIVITY, GOBP_RESPONSE_TO_PEPTIDE, TAKADA_GASTRIC_CANCER_COPY_NUMBER_DN, MEF2_02, AP2_Q3, MODULE_205, ONKEN_UVEAL_MELANOMA_UP, IRF1_Q6, MODULE_210, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, CORRE_MULTIPLE_MYELOMA_UP, HFH3_01, TSENG_IRS1_TARGETS_DN, RICKMAN_HEAD_AND_NECK_CANCER_A, DODD_NASOPHARYNGEAL_CARCINOMA_UP
GO Biological Process (4): proteolysis (GO:0006508), cell adhesion (GO:0007155), central nervous system development (GO:0007417), cellular response to leukemia inhibitory factor (GO:1990830)
GO Molecular Function (4): metalloendopeptidase activity (GO:0004222), integrin binding (GO:0005178), metallopeptidase activity (GO:0008237), protein binding (GO:0005515)
GO Cellular Component (6): extracellular region (GO:0005576), plasma membrane (GO:0005886), presynaptic membrane (GO:0042734), glutamatergic synapse (GO:0098978), endomembrane system (GO:0012505), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Developmental Biology | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| protein metabolic process | 1 |
| cellular process | 1 |
| nervous system development | 1 |
| system development | 1 |
| cellular response to cytokine stimulus | 1 |
| response to leukemia inhibitory factor | 1 |
| endopeptidase activity | 1 |
| metallopeptidase activity | 1 |
| signaling receptor binding | 1 |
| protein-containing complex binding | 1 |
| cell adhesion molecule binding | 1 |
| peptidase activity | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| synaptic membrane | 1 |
| presynapse | 1 |
| synapse | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
Protein interactions and networks
STRING
980 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ADAM23 | LGI1 | O95970 | 996 |
| ADAM23 | ADAM22 | Q9P0K1 | 896 |
| ADAM23 | LGI3 | Q8N145 | 850 |
| ADAM23 | LGI2 | Q8N0V4 | 730 |
| ADAM23 | KCNA1 | Q09470 | 692 |
| ADAM23 | DLG4 | P78352 | 597 |
| ADAM23 | LGI4 | Q8N135 | 590 |
| ADAM23 | MLF1 | P58340 | 542 |
| ADAM23 | ERV3-1 | Q14264 | 519 |
| ADAM23 | ERVFRD-1 | P60508 | 517 |
| ADAM23 | PRDM5 | Q9NQX1 | 515 |
| ADAM23 | CNTNAP2 | Q9UHC6 | 507 |
| ADAM23 | DLG2 | Q15700 | 500 |
| ADAM23 | CACNG2 | Q9Y698 | 461 |
| ADAM23 | ZDBF2 | Q9HCK1 | 453 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FBXO2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.530 |
| ADAM23 | YWHAZ | psi-mi:“MI:0915”(physical association) | 0.370 |
| CANX | HLA-A | psi-mi:“MI:0914”(association) | 0.350 |
| ADAM11 | ADAM23 | psi-mi:“MI:0914”(association) | 0.350 |
| KLHL22 | TRAV18 | psi-mi:“MI:0914”(association) | 0.350 |
| DISC1 | ADAM23 | psi-mi:“MI:0915”(physical association) | 0.000 |
| DYRK1A | ADAM23 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (9): ADAM23 (Affinity Capture-MS), ADAM23 (Affinity Capture-MS), ADAM23 (Affinity Capture-MS), ADAM23 (Two-hybrid), ADAM23 (Cross-Linking-MS (XL-MS)), ADAM23 (Affinity Capture-MS), ADAM23 (Affinity Capture-MS), ADAM23 (Affinity Capture-MS), ADAM23 (Affinity Capture-RNA)
ESM2 similar proteins: A2A259, A2AIR5, H2Q5A1, O00222, O15399, O60242, O75077, O75882, O97741, P15209, P24786, P31423, P35400, P37088, P47743, P55270, P70579, Q00961, Q01098, Q03351, Q03391, Q13507, Q14833, Q14957, Q16288, Q1ZZH0, Q4R766, Q5IS37, Q5RDQ8, Q62645, Q63604, Q68ED2, Q68EF4, Q6AYT7, Q80ZF8, Q8CIW5, Q8TCU5, Q8VHN2, Q91044, Q91YD4
Diamond homologs: A0A0B4U9L8, A0A6B7FMR5, A2CJE2, A2CJE3, A2CJE4, A3R0T9, A4PBQ9, A8QL48, A8QL49, A8QL59, B8K1W0, C0LZJ5, C5H5D1, C5H5D2, C5H5D3, C5H5D4, C5H5D5, C5H5D6, C9E1R8, C9E1S0, D3TTC1, D3TTC2, D5LMJ3, D6PXE8, D8VNS0, F8RKV9, F8RKW0, F8RKW1, F8S108, G5EFD5, J3S829, J3S830, J3SDW6, J3SDW8, O35227, O35674, O42138, O75077, O93517, O93518
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
119 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 1 |
| Uncertain significance | 88 |
| Likely benign | 12 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 59163 | GRCh38/hg38 2q33.3(chr2:206391900-207078994)x3 | Pathogenic |
| 150331 | GRCh38/hg38 2q33.3(chr2:205163962-206491669)x4 | Likely pathogenic |
SpliceAI
5113 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:206445469:A:T | donor_gain | 1.0000 |
| 2:206479799:GATT:G | donor_gain | 1.0000 |
| 2:206481221:T:A | acceptor_gain | 1.0000 |
| 2:206481227:CATA:C | acceptor_loss | 1.0000 |
| 2:206481228:ATAG:A | acceptor_gain | 1.0000 |
| 2:206481229:T:G | acceptor_gain | 1.0000 |
| 2:206481229:TA:T | acceptor_loss | 1.0000 |
| 2:206481230:A:AG | acceptor_gain | 1.0000 |
| 2:206481230:A:T | acceptor_loss | 1.0000 |
| 2:206481230:AG:A | acceptor_gain | 1.0000 |
| 2:206481231:G:A | acceptor_loss | 1.0000 |
| 2:206481231:G:GA | acceptor_gain | 1.0000 |
| 2:206481231:GG:G | acceptor_gain | 1.0000 |
| 2:206481231:GGCT:G | acceptor_gain | 1.0000 |
| 2:206481304:AACAA:A | donor_gain | 1.0000 |
| 2:206481305:ACAA:A | donor_gain | 1.0000 |
| 2:206481306:CAA:C | donor_gain | 1.0000 |
| 2:206481307:AA:A | donor_gain | 1.0000 |
| 2:206481308:AGTG:A | donor_loss | 1.0000 |
| 2:206481309:G:C | donor_loss | 1.0000 |
| 2:206481309:G:GG | donor_gain | 1.0000 |
| 2:206481310:TGAG:T | donor_loss | 1.0000 |
| 2:206530883:A:AG | acceptor_gain | 1.0000 |
| 2:206530883:AGT:A | acceptor_gain | 1.0000 |
| 2:206530884:G:GA | acceptor_gain | 1.0000 |
| 2:206530884:GT:G | acceptor_gain | 1.0000 |
| 2:206530884:GTG:G | acceptor_gain | 1.0000 |
| 2:206542135:G:GG | donor_gain | 1.0000 |
| 2:206543251:A:AG | acceptor_gain | 1.0000 |
| 2:206543251:AGT:A | acceptor_gain | 1.0000 |
AlphaMissense
5502 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:206567243:T:G | F472C | 1.000 |
| 2:206594891:T:A | C745S | 1.000 |
| 2:206594892:G:C | C745S | 1.000 |
| 2:206596105:T:A | C768S | 1.000 |
| 2:206596106:G:A | C768Y | 1.000 |
| 2:206596106:G:C | C768S | 1.000 |
| 2:206596107:C:G | C768W | 1.000 |
| 2:206609937:G:A | G796D | 1.000 |
| 2:206609946:C:A | A799D | 1.000 |
| 2:206609948:G:C | G800R | 1.000 |
| 2:206609949:G:A | G800D | 1.000 |
| 2:206609958:T:A | L803Q | 1.000 |
| 2:206609967:C:A | A806D | 1.000 |
| 2:206609976:T:A | L809H | 1.000 |
| 2:206609979:G:A | G810E | 1.000 |
| 2:206542064:T:C | C196R | 0.999 |
| 2:206542066:T:G | C196W | 0.999 |
| 2:206550135:T:C | L303P | 0.999 |
| 2:206559994:G:C | A349P | 0.999 |
| 2:206560006:T:A | W353R | 0.999 |
| 2:206560006:T:C | W353R | 0.999 |
| 2:206560008:G:C | W353C | 0.999 |
| 2:206560008:G:T | W353C | 0.999 |
| 2:206560112:T:C | L388P | 0.999 |
| 2:206565049:T:A | C459S | 0.999 |
| 2:206565049:T:C | C459R | 0.999 |
| 2:206565050:G:C | C459S | 0.999 |
| 2:206567242:T:C | F472L | 0.999 |
| 2:206567243:T:C | F472S | 0.999 |
| 2:206567244:T:A | F472L | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000002980 (2:206483157 A>G), RS1000006541 (2:206500604 C>T), RS1000029130 (2:206615308 G>A,C,T), RS1000032401 (2:206613839 T>G), RS1000033702 (2:206604582 C>T), RS1000058837 (2:206447588 A>G,T), RS1000062555 (2:206490824 C>G), RS1000075001 (2:206499525 A>C,G), RS1000088343 (2:206619516 C>A,G), RS1000112296 (2:206578072 A>G), RS1000116967 (2:206449596 C>T), RS1000117970 (2:206491348 A>G), RS1000122734 (2:206569702 A>G), RS1000129084 (2:206600196 T>C), RS1000146731 (2:206495629 G>A,C)
Disease associations
OMIM: gene MIM:603710 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
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
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, increases methylation | 2 |
| Tretinoin | decreases expression | 2 |
| Aflatoxin B1 | decreases methylation | 2 |
| bisphenol A | increases methylation | 1 |
| terbufos | increases methylation | 1 |
| cinnamaldehyde | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| abrine | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Troglitazone | increases expression | 1 |
| Atrazine | increases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Fonofos | increases methylation | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Parathion | increases methylation | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Triclosan | decreases expression | 1 |
| Valproic Acid | decreases expression | 1 |
| Aflatoxin M1 | decreases expression | 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.