CAPN7
gene geneOn this page
Also known as PalBH
Summary
CAPN7 (calpain 7, HGNC:1484) is a protein-coding gene on chromosome 3p25.1, encoding Calpain-7 (Q9Y6W3). Calcium-regulated non-lysosomal thiol-protease.
Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The function of the protein encoded by this gene is not known. An orthologue has been found in mouse but it seems to diverge from other family members. The mouse orthologue is thought to be calcium independent with protease activity.
Source: NCBI Gene 23473 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 116 total
- MANE Select transcript:
NM_014296
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1484 |
| Approved symbol | CAPN7 |
| Name | calpain 7 |
| Location | 3p25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PalBH |
| Ensembl gene | ENSG00000131375 |
| Ensembl biotype | protein_coding |
| OMIM | 606400 |
| Entrez | 23473 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 9 protein_coding, 3 nonsense_mediated_decay, 2 retained_intron
ENST00000253693, ENST00000415565, ENST00000418994, ENST00000443567, ENST00000457023, ENST00000463417, ENST00000472400, ENST00000901140, ENST00000901141, ENST00000901142, ENST00000901143, ENST00000901144, ENST00000928381, ENST00000965910
RefSeq mRNA: 7 — MANE Select: NM_014296
NM_001376086, NM_001376087, NM_001376089, NM_001376090, NM_001376091, NM_001376093, NM_014296
CCDS: CCDS2624
Canonical transcript exons
ENST00000253693 — 21 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000901305 | 15206246 | 15206597 |
| ENSE00000901319 | 15241453 | 15241588 |
| ENSE00001149507 | 15220781 | 15220981 |
| ENSE00001241433 | 15251116 | 15252916 |
| ENSE00001640361 | 15240754 | 15240853 |
| ENSE00001653102 | 15232519 | 15232665 |
| ENSE00001665389 | 15230442 | 15230535 |
| ENSE00001700421 | 15227839 | 15227965 |
| ENSE00001713631 | 15223475 | 15223561 |
| ENSE00001731020 | 15235025 | 15235145 |
| ENSE00001776600 | 15233867 | 15233973 |
| ENSE00001780897 | 15240473 | 15240617 |
| ENSE00001803695 | 15228974 | 15229059 |
| ENSE00003471875 | 15245526 | 15245671 |
| ENSE00003553936 | 15217425 | 15217582 |
| ENSE00003583169 | 15218473 | 15218540 |
| ENSE00003590494 | 15247327 | 15247457 |
| ENSE00003593199 | 15242178 | 15242253 |
| ENSE00003595244 | 15250931 | 15251023 |
| ENSE00003659474 | 15246732 | 15246794 |
| ENSE00003690393 | 15212104 | 15212212 |
Expression profiles
Bgee: expression breadth ubiquitous, 291 present calls, max score 98.13.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.1236 / max 89.6429, expressed in 1783 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 35495 | 11.8209 | 1781 |
| 35494 | 0.3027 | 139 |
Top tissues by expression
298 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 98.13 | gold quality |
| oocyte | CL:0000023 | 95.57 | gold quality |
| calcaneal tendon | UBERON:0003701 | 95.16 | gold quality |
| adrenal tissue | UBERON:0018303 | 93.90 | gold quality |
| left ovary | UBERON:0002119 | 92.65 | gold quality |
| tibia | UBERON:0000979 | 92.58 | gold quality |
| mucosa of stomach | UBERON:0001199 | 92.28 | gold quality |
| popliteal artery | UBERON:0002250 | 91.74 | gold quality |
| tibial artery | UBERON:0007610 | 91.74 | gold quality |
| gastrocnemius | UBERON:0001388 | 91.65 | gold quality |
| endocervix | UBERON:0000458 | 91.62 | gold quality |
| artery | UBERON:0001637 | 91.31 | gold quality |
| right ovary | UBERON:0002118 | 91.24 | gold quality |
| body of uterus | UBERON:0009853 | 91.19 | gold quality |
| ovary | UBERON:0000992 | 91.05 | gold quality |
| muscle of leg | UBERON:0001383 | 90.96 | gold quality |
| aorta | UBERON:0000947 | 90.93 | gold quality |
| tibial nerve | UBERON:0001323 | 90.82 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 90.79 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 90.76 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 90.67 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 90.66 | gold quality |
| cerebellar cortex | UBERON:0002129 | 90.60 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 90.55 | gold quality |
| right uterine tube | UBERON:0001302 | 90.55 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 90.53 | gold quality |
| lower esophagus | UBERON:0013473 | 90.51 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 90.51 | gold quality |
| ventricular zone | UBERON:0003053 | 90.41 | gold quality |
| thyroid gland | UBERON:0002046 | 90.35 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.96 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
132 targeting CAPN7, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| 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-MIR-6740-5P | 100.00 | 65.64 | 932 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
Literature-anchored findings (GeneRIF, showing 6)
- Results demonstrate that human calpain 7 is proteolytically active, and imply that calpain 7 is activated by ESCRT-III-related protein IST1. (PMID:20849418)
- The detected enhancement of autolysis of mGFP-fused calpain-7 by coexpression with CHMP1B and observed further activation by additional coexpression of IST1 in HEK293T cells. (PMID:21616915)
- Mutational analysis of calpain-7 reveals the importance of not only the N-terminal microtubule-interacting and trafficking domains but also the C-terminal C2 domain-like domains for proteolytic activity. (PMID:23497113)
- Data indicate that CAPN 7 promotes endometrial stromal cell (hESC) migration and invasion by increasing the activity of MMP-2 via an increased ratio of MMP-2 to TIMP-2. (PMID:23855590)
- The proteolytic activity of CAPN7 is important for the acceleration of EGFR degradation via the endosomal sorting pathway. (PMID:24953135)
- Calpain7 negatively regulates human endometrial stromal cell decidualization in EMs by promoting FoxO1 nuclear exclusion via hydrolyzing AKT1. (PMID:35191464)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | capn7 | ENSDARG00000102987 |
| mus_musculus | Capn7 | ENSMUSG00000021893 |
| rattus_norvegicus | Capn7 | ENSRNOG00000019273 |
| caenorhabditis_elegans | WBGENE00000543 |
Paralogs (20): CAPN1 (ENSG00000014216), SRI (ENSG00000075142), CAPN6 (ENSG00000077274), CAPN3 (ENSG00000092529), CAPN15 (ENSG00000103326), GCA (ENSG00000115271), ADGB (ENSG00000118492), CAPNS1 (ENSG00000126247), CAPN9 (ENSG00000135773), CAPN11 (ENSG00000137225), CAPN10 (ENSG00000142330), CAPN5 (ENSG00000149260), PEF1 (ENSG00000162517), CAPN2 (ENSG00000162909), CAPN13 (ENSG00000162949), CAPN12 (ENSG00000182472), CAPN8 (ENSG00000203697), CAPN14 (ENSG00000214711), PDCD6 (ENSG00000249915), CAPNS2 (ENSG00000256812)
Protein
Protein identifiers
Calpain-7 — Q9Y6W3 (reviewed: Q9Y6W3)
Alternative names: PalB homolog
All UniProt accessions (5): F8WCZ1, F8WDQ3, H7C0F1, H7C1B7, Q9Y6W3
UniProt curated annotations — full annotation on UniProt →
Function. Calcium-regulated non-lysosomal thiol-protease.
Subcellular location. Nucleus.
Tissue specificity. Ubiquitous.
Similarity. Belongs to the peptidase C2 family.
RefSeq proteins (7): NP_001363015, NP_001363016, NP_001363018, NP_001363019, NP_001363020, NP_001363022, NP_055111* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001300 | Peptidase_C2_calpain_cat | Domain |
| IPR007330 | MIT_dom | Domain |
| IPR022682 | Calpain_domain_III | Domain |
| IPR022683 | Calpain_III | Domain |
| IPR022684 | Calpain_cysteine_protease | Family |
| IPR036181 | MIT_dom_sf | Homologous_superfamily |
| IPR036213 | Calpain_III_sf | Homologous_superfamily |
| IPR038765 | Papain-like_cys_pep_sf | Homologous_superfamily |
| IPR051297 | PalB/RIM13 | Family |
Pfam: PF00648, PF01067, PF04212
Enzyme classification (BRENDA):
- EC 3.4.22.B27 — (BRENDA: organisms, substrates, inhibitors, Km, kcat entries)
UniProt features (27 total): strand 9, helix 8, active site 3, region of interest 2, modified residue 2, chain 1, domain 1, turn 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2QFE | X-RAY DIFFRACTION | 1.45 |
| 8UC6 | X-RAY DIFFRACTION | 2.7 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y6W3-F1 | 88.88 | 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): 290; 458; 478
Post-translational modifications (2): 1, 95
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-1474228 | Degradation of the extracellular matrix |
| R-HSA-1474244 | Extracellular matrix organization |
MSigDB gene sets: 131 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, KAAB_FAILED_HEART_ATRIUM_DN, GOBP_REGULATION_OF_EPITHELIAL_CELL_MIGRATION, GOBP_AMEBOIDAL_TYPE_CELL_MIGRATION, GOBP_TISSUE_MIGRATION, GOMF_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOBP_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_MIGRATION, ACTTTAT_MIR1425P, JOSEPH_RESPONSE_TO_SODIUM_BUTYRATE_DN, BURTON_ADIPOGENESIS_12, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_DN, PARENT_MTOR_SIGNALING_UP, TAATTA_CHX10_01
GO Biological Process (3): proteolysis (GO:0006508), positive regulation of epithelial cell migration (GO:0010634), self proteolysis (GO:0097264)
GO Molecular Function (8): endopeptidase activity (GO:0004175), cysteine-type endopeptidase activity (GO:0004197), calcium-dependent cysteine-type endopeptidase activity (GO:0004198), MIT domain binding (GO:0090541), protein binding (GO:0005515), peptidase activity (GO:0008233), cysteine-type peptidase activity (GO:0008234), hydrolase activity (GO:0016787)
GO Cellular Component (4): nucleus (GO:0005634), centrosome (GO:0005813), cytosol (GO:0005829), extracellular exosome (GO:0070062)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Extracellular matrix organization | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| peptidase activity | 2 |
| protein metabolic process | 1 |
| epithelial cell migration | 1 |
| regulation of epithelial cell migration | 1 |
| positive regulation of cell migration | 1 |
| proteolysis | 1 |
| endopeptidase activity | 1 |
| cysteine-type peptidase activity | 1 |
| cysteine-type endopeptidase activity | 1 |
| protein domain specific binding | 1 |
| binding | 1 |
| hydrolase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
1449 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CAPN7 | OXNAD1 | Q96HP4 | 891 |
| CAPN7 | XIRP1 | Q702N8 | 832 |
| CAPN7 | TTR | P02766 | 637 |
| CAPN7 | CAST | P20810 | 590 |
| CAPN7 | CAPNS1 | P04632 | 567 |
| CAPN7 | CAV3 | P56539 | 553 |
| CAPN7 | CAPNS2 | Q96L46 | 543 |
| CAPN7 | TFAP2A | P05549 | 514 |
| CAPN7 | CHMP1B | Q7LBR1 | 474 |
| CAPN7 | IST1 | P53990 | 432 |
| CAPN7 | TMEM132E | Q6IEE7 | 400 |
| CAPN7 | RIBC1 | Q8N443 | 394 |
| CAPN7 | MTURN | Q8N3F0 | 380 |
| CAPN7 | TOPAZ1 | Q8N9V7 | 377 |
| CAPN7 | MROH7 | Q68CQ1 | 375 |
IntAct
64 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CAPN7 | IST1 | psi-mi:“MI:0915”(physical association) | 0.680 |
| IST1 | CAPN7 | psi-mi:“MI:0407”(direct interaction) | 0.680 |
| IST1 | CAPN7 | psi-mi:“MI:0915”(physical association) | 0.680 |
| CAPN7 | ZNF655 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TNFAIP1 | CAPN7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| IFT88 | CAPN7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PPP1R13B | CAPN7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PRPSAP1 | CAPN7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CEP63 | CAPN7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOLGA2 | CAPN7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIM27 | CAPN7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAGED1 | CAPN7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CTBP2 | CAPN7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAD1L1 | CAPN7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AXIN2 | CAPN7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARNT2 | CAPN7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF655 | CAPN7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VHL | EGLN3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CAPN7 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| Spast | psi-mi:“MI:0914”(association) | 0.350 | |
| Ptpn23 | UMAD1 | psi-mi:“MI:0914”(association) | 0.350 |
| Vps4b | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| CHMP4B | ELOC | psi-mi:“MI:0914”(association) | 0.350 |
| HTRA2 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| IMMP1L | EIF1AY | psi-mi:“MI:0914”(association) | 0.350 |
| CFAP184 | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| PTGES3 | SBNO1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (47): CAPN7 (Two-hybrid), CAPN7 (Two-hybrid), CAPN7 (Two-hybrid), ZFYVE19 (Two-hybrid), UBL7 (Two-hybrid), ZBTB9 (Two-hybrid), CAPN7 (Affinity Capture-MS), CAPN7 (Affinity Capture-MS), CAPN7 (Affinity Capture-MS), CAPN7 (Affinity Capture-MS), CAPN7 (Affinity Capture-MS), CAPN7 (Affinity Capture-MS), CAPN7 (Affinity Capture-MS), CAPN7 (Proximity Label-MS), CAPN7 (Two-hybrid)
ESM2 similar proteins: A0A0G2QC33, A0FKG7, A6H7H7, F1N9S8, O95453, P0C0T1, P42694, P50747, P69341, Q0IIH8, Q0VGM9, Q13572, Q28559, Q4R528, Q5BJZ6, Q5F480, Q5R699, Q5RC51, Q5ZIA0, Q5ZIW7, Q640G7, Q6DDJ3, Q6DFV5, Q6DG88, Q6DJB3, Q6GR37, Q6NYU2, Q6PZ02, Q6PZ03, Q6PZ05, Q7T0P6, Q80UY1, Q80YV4, Q811C2, Q8BGE6, Q8BYN3, Q8C9S8, Q8N4J0, Q8VDG3, Q8WYN0
Diamond homologs: A0FKG7, G3UZ78, P27398, Q00204, Q55FS2, Q78EJ9, Q8RVL1, Q9R1S8, Q9Y6W3, Q9Y6Z8, A6NHC0, A8MX76, O08529, O08688, O14815, O15484, O35350, O35920, O75808, P00789, P06814, P07384, P17655, P20807, P27730, P35750, P97571, Q07009, Q11002, Q27970, Q27971, Q4V8Q1, Q5NVS7, Q6J756, Q6ZFZ4, Q6ZSI9, Q8IAA9, Q8R4C0, Q8RVL2, Q91VA3
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 | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 88 |
| Likely benign | 7 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3042 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:15206593:ACAAG:A | donor_loss | 1.0000 |
| 3:15206594:CAAG:C | donor_loss | 1.0000 |
| 3:15206595:AAGGT:A | donor_loss | 1.0000 |
| 3:15206596:AGG:A | donor_loss | 1.0000 |
| 3:15206597:GGTAG:G | donor_loss | 1.0000 |
| 3:15206599:T:G | donor_loss | 1.0000 |
| 3:15211060:G:GT | donor_gain | 1.0000 |
| 3:15211091:A:AG | donor_gain | 1.0000 |
| 3:15212097:T:G | acceptor_gain | 1.0000 |
| 3:15212208:AGCAG:A | donor_loss | 1.0000 |
| 3:15212209:GCAG:G | donor_gain | 1.0000 |
| 3:15212209:GCAGG:G | donor_loss | 1.0000 |
| 3:15212210:CAGG:C | donor_loss | 1.0000 |
| 3:15212212:GGTT:G | donor_loss | 1.0000 |
| 3:15212213:G:A | donor_loss | 1.0000 |
| 3:15217419:T:G | acceptor_gain | 1.0000 |
| 3:15217422:TA:T | acceptor_loss | 1.0000 |
| 3:15217423:A:AG | acceptor_gain | 1.0000 |
| 3:15217424:G:GA | acceptor_gain | 1.0000 |
| 3:15217424:GTT:G | acceptor_gain | 1.0000 |
| 3:15217424:GTTC:G | acceptor_gain | 1.0000 |
| 3:15217424:GTTCA:G | acceptor_gain | 1.0000 |
| 3:15217560:C:G | donor_gain | 1.0000 |
| 3:15217579:AACA:A | donor_gain | 1.0000 |
| 3:15217580:ACA:A | donor_gain | 1.0000 |
| 3:15217581:CA:C | donor_gain | 1.0000 |
| 3:15217583:GT:G | donor_gain | 1.0000 |
| 3:15217600:T:G | donor_gain | 1.0000 |
| 3:15217609:A:G | donor_gain | 1.0000 |
| 3:15218468:TTAAG:T | acceptor_loss | 1.0000 |
AlphaMissense
5351 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:15212107:G:C | A36P | 1.000 |
| 3:15217481:G:C | A90P | 1.000 |
| 3:15217491:T:C | L93P | 1.000 |
| 3:15217550:T:G | Y113D | 1.000 |
| 3:15217559:G:C | A116P | 1.000 |
| 3:15218530:G:C | A143P | 1.000 |
| 3:15227894:T:A | W261R | 1.000 |
| 3:15227894:T:C | W261R | 1.000 |
| 3:15227965:G:C | Q284H | 1.000 |
| 3:15227965:G:T | Q284H | 1.000 |
| 3:15228989:T:C | C290R | 1.000 |
| 3:15228990:G:A | C290Y | 1.000 |
| 3:15228991:C:G | C290W | 1.000 |
| 3:15229008:T:C | L296P | 1.000 |
| 3:15229010:G:C | A297P | 1.000 |
| 3:15229019:G:C | A300P | 1.000 |
| 3:15230484:T:A | N327K | 1.000 |
| 3:15230484:T:G | N327K | 1.000 |
| 3:15230497:T:G | Y332D | 1.000 |
| 3:15230520:T:A | N339K | 1.000 |
| 3:15230520:T:G | N339K | 1.000 |
| 3:15230531:G:C | R343T | 1.000 |
| 3:15230532:A:C | R343S | 1.000 |
| 3:15230532:A:T | R343S | 1.000 |
| 3:15232597:T:A | W371R | 1.000 |
| 3:15232597:T:C | W371R | 1.000 |
| 3:15232614:A:C | E376D | 1.000 |
| 3:15232614:A:T | E376D | 1.000 |
| 3:15232648:T:C | F388L | 1.000 |
| 3:15232650:T:A | F388L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000067855 (3:15223995 G>A), RS1000080514 (3:15219706 T>C), RS1000120044 (3:15223779 G>A), RS1000237992 (3:15237698 C>T), RS1000290101 (3:15231474 A>G), RS1000296083 (3:15244137 A>G), RS1000401019 (3:15212692 G>A), RS1000555634 (3:15219414 A>G,T), RS1000563974 (3:15237385 A>G), RS1000740815 (3:15204585 G>A), RS1000753477 (3:15210269 A>T), RS1000764969 (3:15214170 A>G), RS1000808085 (3:15250428 G>C), RS1000854131 (3:15251993 A>G), RS1000937745 (3:15247681 A>G)
Disease associations
OMIM: gene MIM:606400 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009391_250 | Metabolite levels | 2.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010495 | guanosine monophosphate measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, decreases expression | 2 |
| dicrotophos | decreases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| bisphenol A | decreases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| MDL 201053 | decreases expression, decreases reaction, increases degradation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| glycidamide | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| aloxistatin | decreases expression, decreases reaction, increases degradation | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Calcitriol | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Piroxicam | decreases expression | 1 |
| Selenium | decreases expression | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| Vitamin E | decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Asbestos, Crocidolite | decreases expression | 1 |
| Antirheumatic Agents | increases 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.