STRN3
gene geneOn this page
Also known as SG2NAPPP2R6BS/G2NA
Summary
STRN3 (striatin 3, HGNC:15720) is a protein-coding gene on chromosome 14q12, encoding Striatin-3 (Q13033). Calmodulin-binding scaffolding protein which is the center of the striatin-interacting phosphatase and kinase (STRIPAK) complexes.
Enables armadillo repeat domain binding activity; enzyme binding activity; and protein-macromolecule adaptor activity. Involved in negative regulation of hippo signaling; negative regulation of transcription by RNA polymerase II; and positive regulation of transcription by RNA polymerase II. Located in Golgi apparatus; nucleoplasm; and plasma membrane. Part of FAR/SIN/STRIPAK complex.
Source: NCBI Gene 29966 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 101 total
- MANE Select transcript:
NM_001083893
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15720 |
| Approved symbol | STRN3 |
| Name | striatin 3 |
| Location | 14q12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SG2NA, PPP2R6B, S/G2NA |
| Ensembl gene | ENSG00000196792 |
| Ensembl biotype | protein_coding |
| OMIM | 614766 |
| Entrez | 29966 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 12 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay
ENST00000355683, ENST00000357479, ENST00000366206, ENST00000554124, ENST00000554991, ENST00000555152, ENST00000555358, ENST00000556577, ENST00000937939, ENST00000964546, ENST00000964547, ENST00000964548, ENST00000964549, ENST00000964550, ENST00000964551
RefSeq mRNA: 2 — MANE Select: NM_001083893
NM_001083893, NM_014574
CCDS: CCDS41938, CCDS9641
Canonical transcript exons
ENST00000357479 — 18 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001366972 | 30947090 | 30947263 |
| ENSE00001367141 | 30955620 | 30955693 |
| ENSE00001373638 | 30936495 | 30936624 |
| ENSE00001373653 | 30950863 | 30950944 |
| ENSE00001375130 | 30935163 | 30935304 |
| ENSE00001429532 | 30918966 | 30919106 |
| ENSE00001432633 | 30929201 | 30929311 |
| ENSE00001847082 | 31025904 | 31026379 |
| ENSE00002494759 | 30893804 | 30895580 |
| ENSE00003461486 | 30956139 | 30956242 |
| ENSE00003480010 | 30911777 | 30911824 |
| ENSE00003500181 | 30912007 | 30912182 |
| ENSE00003550807 | 30902536 | 30902643 |
| ENSE00003555138 | 30906877 | 30907044 |
| ENSE00003588671 | 30905418 | 30905558 |
| ENSE00003633185 | 30895662 | 30895748 |
| ENSE00003637476 | 30911041 | 30911162 |
| ENSE00003790719 | 30913524 | 30913657 |
Expression profiles
Bgee: expression breadth ubiquitous, 288 present calls, max score 98.17.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.7006 / max 130.7316, expressed in 1802 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 142725 | 13.4813 | 1790 |
| 142726 | 2.2193 | 1226 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 98.17 | gold quality |
| colonic epithelium | UBERON:0000397 | 96.92 | gold quality |
| biceps brachii | UBERON:0001507 | 94.18 | gold quality |
| sural nerve | UBERON:0015488 | 94.12 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 93.72 | gold quality |
| blood vessel layer | UBERON:0004797 | 93.69 | gold quality |
| adrenal tissue | UBERON:0018303 | 92.79 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 92.69 | gold quality |
| muscle of leg | UBERON:0001383 | 91.84 | gold quality |
| cauda epididymis | UBERON:0004360 | 91.81 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 91.79 | gold quality |
| gastrocnemius | UBERON:0001388 | 91.70 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 91.51 | gold quality |
| muscle organ | UBERON:0001630 | 91.22 | gold quality |
| stromal cell of endometrium | CL:0002255 | 90.84 | gold quality |
| tibialis anterior | UBERON:0001385 | 90.71 | gold quality |
| ventricular zone | UBERON:0003053 | 90.58 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 90.23 | gold quality |
| oocyte | CL:0000023 | 89.63 | gold quality |
| cortical plate | UBERON:0005343 | 89.44 | gold quality |
| vastus lateralis | UBERON:0001379 | 89.02 | gold quality |
| quadriceps femoris | UBERON:0001377 | 88.98 | gold quality |
| corpus epididymis | UBERON:0004359 | 88.90 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 88.74 | gold quality |
| ganglionic eminence | UBERON:0004023 | 88.68 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 88.63 | gold quality |
| muscle tissue | UBERON:0002385 | 88.60 | gold quality |
| deltoid | UBERON:0001476 | 88.55 | gold quality |
| caput epididymis | UBERON:0004358 | 88.23 | gold quality |
| popliteal artery | UBERON:0002250 | 88.10 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 10.12 |
| E-MTAB-6379 | no | 299.80 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
172 targeting STRN3, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-3134 | 100.00 | 66.43 | 777 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| 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-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
Literature-anchored findings (GeneRIF, showing 10)
- STRN3 (rs2273171)is associated with single nucleotide polymorphisms in Korean patients, either non-segmental or segmental type. (PMID:23678272)
- This result combined with a number of biophysical analyses provide evidence that the coiled coil domain of striatin 3 and the PP2A A subunit form a stable core complex with a 2:2 stoichiometry (PMID:24550388)
- The structure and protein-binding domains of the SG2NA protein variants have been described. (PMID:25015106)
- this study propose that the STRIPAK complex, FAM40A, FAM40B and STRN3, regulates the mode of cancer cell migration by controlling the activity of MST3 and 4, which locally coordinate the phosphorylation of ERM proteins and inhibit the dephosphorylation of MLC leading to increased actin-membrane linkage. (PMID:25531779)
- results demonstrate that XBP1 mRNA splicing plays an important role in maintaining the function of bone marrow-derived macrophages and provide new insight into the study and treatment of atherosclerosis (PMID:26022125)
- we detected novel and related STRN-NTRK3 and STRN3-NTRK3 fusions in 2 fibrosarcomas that occurred in the bone and soft tissue of young adult patients (PMID:30520818)
- Selective Inhibition of STRN3-Containing PP2A Phosphatase Restores Hippo Tumor-Suppressor Activity in Gastric Cancer. (PMID:32589942)
- The profile of expression of the scaffold protein SG2NA(s) differs between cancer types and its interactome in normal vis-a-vis breast tumor tissues suggests its wide roles in regulating multiple cellular pathways. (PMID:35230605)
- Phosphorylation of Influenza A Virus Matrix Protein 1 at Threonine 108 Controls Its Multimerization State and Functional Association with the STRIPAK Complex. (PMID:36602306)
- STRN3 promotes tumour growth in hepatocellular carcinoma by inhibiting the hippo pathway. (PMID:38429901)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | strn3 | ENSDARG00000001729 |
| mus_musculus | Strn3 | ENSMUSG00000020954 |
| rattus_norvegicus | Strn3 | ENSRNOG00000060335 |
Paralogs (2): STRN4 (ENSG00000090372), STRN (ENSG00000115808)
Protein
Protein identifiers
Striatin-3 — Q13033 (reviewed: Q13033)
Alternative names: Cell cycle autoantigen SG2NA, S/G2 antigen
All UniProt accessions (5): Q13033, G3V340, G3V3G7, H0YJT2, H0YJZ4
UniProt curated annotations — full annotation on UniProt →
Function. Calmodulin-binding scaffolding protein which is the center of the striatin-interacting phosphatase and kinase (STRIPAK) complexes. STRIPAK complexes have critical roles in protein (de)phosphorylation and are regulators of multiple signaling pathways including Hippo, MAPK, nuclear receptor and cytoskeleton remodeling. Different types of STRIPAK complexes are involved in a variety of biological processes such as cell growth, differentiation, apoptosis, metabolism and immune regulation.
Subunit / interactions. Tetramerizes. Part of the core of STRIPAK complexes composed of PP2A catalytic and scaffolding subunits, the striatins (PP2A regulatory subunits), the striatin-associated proteins MOB4, STRIP1 and STRIP2, PDCD10 and members of the STE20 kinases, such as STK24 and STK26. The STRIPAK complex can be extended by adapter proteins such as SLMAP:SIKE1 or CTTNBP2NL. Interacts with CDC42BPB.
Subcellular location. Cytoplasm. Membrane.
Similarity. Belongs to the WD repeat striatin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q13033-1 | Beta | yes |
| Q13033-2 | Alpha |
RefSeq proteins (2): NP_001077362, NP_055389 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR013258 | Striatin_N | Domain |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR019775 | WD40_repeat_CS | Conserved_site |
| IPR020472 | WD40_PAC1 | Repeat |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR051488 | WD_repeat_striatin | Family |
Pfam: PF00400, PF08232
UniProt features (69 total): strand 33, modified residue 7, repeat 6, region of interest 5, compositionally biased region 5, mutagenesis site 3, helix 3, turn 2, chain 1, coiled-coil region 1, splice variant 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6AKL | X-RAY DIFFRACTION | 1.75 |
| 4N6J | X-RAY DIFFRACTION | 2 |
| 7K36 | ELECTRON MICROSCOPY | 3.3 |
| 6IUR | X-RAY DIFFRACTION | 3.33 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q13033-F1 | 68.65 | 0.40 |
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 (7): 1, 150, 202, 214, 229, 257, 335
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 176–185 | loss of stripak complex formation. |
| 179–186 | loss of stripak complex formation. |
| 530 | decreased interaction with other components of stripak core complex. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 274 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, GOBP_RESPONSE_TO_ESTRADIOL, GOBP_CELLULAR_RESPONSE_TO_LIPID, GCANCTGNY_MYOD_Q6, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_ESTROGEN_RECEPTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_INTRACELLULAR_STEROID_HORMONE_RECEPTOR_SIGNALING_PATHWAY, GOBP_HIPPO_SIGNALING, GOMF_GTPASE_BINDING, GGGTGGRR_PAX4_03, AAAYRNCTG_UNKNOWN, GGCNKCCATNK_UNKNOWN, chr14q12, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_HORMONE_MEDIATED_SIGNALING_PATHWAY, WATANABE_COLON_CANCER_MSI_VS_MSS_UP
GO Biological Process (6): negative regulation of transcription by RNA polymerase II (GO:0000122), response to estradiol (GO:0032355), negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147), negative regulation of hippo signaling (GO:0035331), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of transcription by RNA polymerase II (GO:0045944)
GO Molecular Function (8): calmodulin binding (GO:0005516), protein kinase binding (GO:0019901), protein-macromolecule adaptor activity (GO:0030674), small GTPase binding (GO:0031267), protein-containing complex binding (GO:0044877), protein phosphatase 2A binding (GO:0051721), armadillo repeat domain binding (GO:0070016), protein binding (GO:0005515)
GO Cellular Component (11): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), dendrite (GO:0030425), protein-containing complex (GO:0032991), neuronal cell body (GO:0043025), FAR/SIN/STRIPAK complex (GO:0090443), postsynapse (GO:0098794), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| regulation of transcription by RNA polymerase II | 2 |
| transcription by RNA polymerase II | 2 |
| protein binding | 2 |
| binding | 2 |
| intracellular membrane-bounded organelle | 2 |
| negative regulation of DNA-templated transcription | 1 |
| response to lipid | 1 |
| response to oxygen-containing compound | 1 |
| estrogen receptor signaling pathway | 1 |
| negative regulation of intracellular steroid hormone receptor signaling pathway | 1 |
| regulation of intracellular estrogen receptor signaling pathway | 1 |
| hippo signaling | 1 |
| regulation of hippo signaling | 1 |
| negative regulation of intracellular signal transduction | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| positive regulation of DNA-templated transcription | 1 |
| kinase binding | 1 |
| molecular adaptor activity | 1 |
| GTPase binding | 1 |
| protein phosphatase binding | 1 |
| protein domain specific binding | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| membrane | 1 |
| cell periphery | 1 |
| neuron projection | 1 |
| dendritic tree | 1 |
| cellular_component | 1 |
| somatodendritic compartment | 1 |
| cell body | 1 |
| protein-containing complex | 1 |
| synapse | 1 |
Protein interactions and networks
STRING
822 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| STRN3 | CTTNBP2NL | Q9P2B4 | 877 |
| STRN3 | STRIP1 | Q5VSL9 | 852 |
| STRN3 | STRIP2 | Q9ULQ0 | 812 |
| STRN3 | PPP2CA | P05323 | 792 |
| STRN3 | MOB4 | Q9Y3A3 | 790 |
| STRN3 | SLMAP | Q14BN4 | 761 |
| STRN3 | STK26 | Q9P289 | 738 |
| STRN3 | PPP2R1A | P30153 | 722 |
| STRN3 | PDCD10 | Q9BUL8 | 718 |
| STRN3 | CTTNBP2 | Q8WZ74 | 711 |
| STRN3 | PARK7 | Q99497 | 702 |
| STRN3 | STK25 | O00506 | 691 |
| STRN3 | STRN | O43815 | 635 |
| STRN3 | SIKE1 | Q9BRV8 | 589 |
| STRN3 | FHOD3 | Q2V2M9 | 556 |
IntAct
164 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PPP2R1A | PPP2CA | psi-mi:“MI:0914”(association) | 0.990 |
| PDCD10 | STK25 | psi-mi:“MI:0914”(association) | 0.980 |
| STRN3 | PPP2R1A | psi-mi:“MI:0914”(association) | 0.920 |
| STK25 | STRN | psi-mi:“MI:0914”(association) | 0.900 |
| STK24 | STK25 | psi-mi:“MI:0914”(association) | 0.890 |
| PPP2R1A | STRN | psi-mi:“MI:0914”(association) | 0.880 |
| PPP2R1A | STRN | psi-mi:“MI:2364”(proximity) | 0.880 |
| STRN3 | STRN | psi-mi:“MI:0915”(physical association) | 0.880 |
| STRN | STRN3 | psi-mi:“MI:0915”(physical association) | 0.880 |
| STRN3 | STK25 | psi-mi:“MI:0914”(association) | 0.880 |
| CTTNBP2NL | STK25 | psi-mi:“MI:0914”(association) | 0.880 |
| STRN3 | STRN | psi-mi:“MI:0914”(association) | 0.880 |
| STRN3 | STRN | psi-mi:“MI:2364”(proximity) | 0.880 |
| STK24 | STRN | psi-mi:“MI:0914”(association) | 0.870 |
| STK26 | STRN | psi-mi:“MI:0915”(physical association) | 0.860 |
| STK26 | STRN | psi-mi:“MI:0914”(association) | 0.860 |
BioGRID (342): STRN3 (Affinity Capture-MS), STRN3 (Affinity Capture-MS), STRN3 (Affinity Capture-MS), STRN3 (Affinity Capture-MS), STRN3 (Affinity Capture-MS), STRN3 (Affinity Capture-MS), STRN3 (Affinity Capture-MS), STRN3 (Affinity Capture-MS), STRN3 (Affinity Capture-MS), STRN3 (Affinity Capture-MS), STRN3 (Affinity Capture-MS), STRN3 (Affinity Capture-MS), PPP2R1B (Affinity Capture-MS), COL4A5 (Affinity Capture-MS), CTTNBP2NL (Affinity Capture-MS)
ESM2 similar proteins: A0A8C0TYJ0, A0A8I5ZNK2, A5D7H2, O55047, O88506, O94806, O95747, P00535, P11273, P32298, P34947, P43249, P49137, Q08CW1, Q12959, Q13033, Q15139, Q15700, Q16644, Q1ECX4, Q28C55, Q3SYZ2, Q3UMW7, Q5PYH5, Q5PYH6, Q5R372, Q5R495, Q5RCW6, Q5XIS9, Q62101, Q62696, Q62833, Q63622, Q66H84, Q6P9R2, Q811D0, Q863I2, Q86UE8, Q8BZ03, Q8C0V0
Diamond homologs: A1C7E4, A1CBP8, A1CUD6, A1DDL6, A1DHW6, A1DP19, A2QCU8, A2R3Z3, A3LNI7, A4RJV3, A5D7H2, A7EKM8, B0XM00, B0XTS1, B2VWG7, B6GZA1, B6Q4Z5, B6QC06, B6QC56, B8M0Q1, B8M7Q5, B8NGT5, C0S902, C1GB49, C5FP68, C5GVJ9, C5JD40, D1ZEM6, D4AM37, D4D8P3, L7N1X6, O43815, O55106, P0DL28, P39014, P58404, P58405, P70483, P87053, Q00659
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 113 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 |
|---|---|---|---|
| RAF activation | 6 | 31.5× | 5e-06 |
| Cyclin A/B1/B2 associated events during G2/M transition | 5 | 24.1× | 6e-05 |
| Regulation of TP53 Degradation | 5 | 22.9× | 6e-05 |
| Degradation of beta-catenin by the destruction complex | 6 | 16.2× | 6e-05 |
| Interferon Signaling | 6 | 11.3× | 3e-04 |
| PKR-mediated signaling | 5 | 11.0× | 1e-03 |
| Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal | 6 | 10.9× | 3e-04 |
| MAPK1/MAPK3 signaling | 5 | 10.3× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of hippo signaling | 7 | 51.2× | 3e-08 |
| regulation of MAPK cascade | 5 | 23.7× | 4e-04 |
| neuron projection morphogenesis | 5 | 14.4× | 3e-03 |
| protein autophosphorylation | 9 | 13.6× | 7e-06 |
| protein phosphorylation | 10 | 7.1× | 3e-04 |
| intracellular signal transduction | 11 | 4.4× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
101 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 77 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4547 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:30895577:TGGC:T | acceptor_gain | 1.0000 |
| 14:30895579:GCCTG:G | acceptor_loss | 1.0000 |
| 14:30895581:C:CA | acceptor_loss | 1.0000 |
| 14:30895581:C:CC | acceptor_gain | 1.0000 |
| 14:30895660:A:AC | donor_gain | 1.0000 |
| 14:30895660:ACTT:A | donor_gain | 1.0000 |
| 14:30895661:C:CC | donor_gain | 1.0000 |
| 14:30895661:CTT:C | donor_gain | 1.0000 |
| 14:30895661:CTTC:C | donor_gain | 1.0000 |
| 14:30895663:T:TA | donor_gain | 1.0000 |
| 14:30902530:GCTTA:G | donor_loss | 1.0000 |
| 14:30902531:CTTAC:C | donor_loss | 1.0000 |
| 14:30902532:TTACC:T | donor_loss | 1.0000 |
| 14:30902533:TAC:T | donor_loss | 1.0000 |
| 14:30902534:A:AC | donor_gain | 1.0000 |
| 14:30902534:A:AT | donor_loss | 1.0000 |
| 14:30902534:AC:A | donor_gain | 1.0000 |
| 14:30902534:ACC:A | donor_gain | 1.0000 |
| 14:30902535:C:A | donor_loss | 1.0000 |
| 14:30902535:C:CC | donor_gain | 1.0000 |
| 14:30902535:CC:C | donor_gain | 1.0000 |
| 14:30902535:CCC:C | donor_gain | 1.0000 |
| 14:30902535:CCCG:C | donor_gain | 1.0000 |
| 14:30902535:CCCGT:C | donor_gain | 1.0000 |
| 14:30902639:TAAAC:T | acceptor_gain | 1.0000 |
| 14:30902640:AAAC:A | acceptor_gain | 1.0000 |
| 14:30902642:AC:A | acceptor_gain | 1.0000 |
| 14:30902643:CC:C | acceptor_gain | 1.0000 |
| 14:30902644:C:CC | acceptor_gain | 1.0000 |
| 14:30902644:CTG:C | acceptor_loss | 1.0000 |
AlphaMissense
5214 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:30895436:T:A | D790V | 1.000 |
| 14:30895437:C:G | D790H | 1.000 |
| 14:30895442:C:T | G788E | 1.000 |
| 14:30895447:A:C | S786R | 1.000 |
| 14:30895447:A:T | S786R | 1.000 |
| 14:30895449:T:G | S786R | 1.000 |
| 14:30895451:G:T | A785D | 1.000 |
| 14:30895510:T:A | R765S | 1.000 |
| 14:30895510:T:G | R765S | 1.000 |
| 14:30895511:C:A | R765I | 1.000 |
| 14:30895511:C:G | R765T | 1.000 |
| 14:30895515:G:C | H764D | 1.000 |
| 14:30895527:C:T | E760K | 1.000 |
| 14:30895534:A:C | C757W | 1.000 |
| 14:30895535:C:T | C757Y | 1.000 |
| 14:30895536:A:G | C757R | 1.000 |
| 14:30895555:C:A | W750C | 1.000 |
| 14:30895555:C:G | W750C | 1.000 |
| 14:30895556:C:G | W750S | 1.000 |
| 14:30895557:A:G | W750R | 1.000 |
| 14:30895557:A:T | W750R | 1.000 |
| 14:30895561:T:A | R748S | 1.000 |
| 14:30895561:T:G | R748S | 1.000 |
| 14:30895562:C:G | R748T | 1.000 |
| 14:30895574:T:A | D744V | 1.000 |
| 14:30895574:T:G | D744A | 1.000 |
| 14:30895575:C:G | D744H | 1.000 |
| 14:30895667:G:A | S740F | 1.000 |
| 14:30895709:A:T | V726D | 1.000 |
| 14:30895720:G:C | H722Q | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000023802 (14:30908162 T>C), RS1000029579 (14:30989442 C>T), RS1000031470 (14:31027427 C>T), RS1000058163 (14:30907873 T>A), RS1000141564 (14:31001977 CAACATGG>C), RS1000158250 (14:30902426 T>A), RS1000167794 (14:31012593 A>T), RS1000190339 (14:31020142 C>T), RS1000198450 (14:30966991 G>A), RS1000222552 (14:30973262 T>C), RS1000223107 (14:31006804 A>C), RS1000275896 (14:30926634 T>C), RS1000299788 (14:30919939 T>C,G), RS1000309046 (14:30914168 C>A,T), RS1000314203 (14:30972898 A>G)
Disease associations
OMIM: gene MIM:614766 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010703_231 | Brain morphology (MOSTest) | 1.000000e-12 |
| GCST90002395_167 | Mean platelet volume | 2.000000e-30 |
| GCST90002402_228 | Platelet count | 6.000000e-12 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004346 | neuroimaging measurement |
| EFO:0004309 | platelet count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
45 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, decreases expression | 2 |
| perfluorooctane sulfonic acid | decreases expression | 2 |
| Resveratrol | affects cotreatment, decreases expression, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| Valproic Acid | decreases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| sodium arsenate | decreases expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| arsenite | decreases reaction, affects binding | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | affects expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| monomethylarsonous acid | affects expression | 1 |
| dimethylarsinous acid | affects expression | 1 |
| abrine | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TR03 | HAP1 STRN3 (-) 1 | Cancer cell line | Male |
| CVCL_TR04 | HAP1 STRN3 (-) 2 | Cancer cell line | Male |
| CVCL_TR05 | HAP1 STRN3 (-) 3 | Cancer cell line | Male |
| CVCL_TR06 | HAP1 STRN3 (-) 4 | Cancer cell line | Male |
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.