LZTS2
gene geneOn this page
Also known as KIAA1813LAPSER1
Summary
LZTS2 (leucine zipper tumor suppressor 2, HGNC:29381) is a protein-coding gene on chromosome 10q24.31, encoding Leucine zipper putative tumor suppressor 2 (Q9BRK4). Negative regulator of katanin-mediated microtubule severing and release from the centrosome.
The protein encoded by this gene belongs to the leucine zipper tumor suppressor family of proteins, which function in transcription regulation and cell cycle control. This family member can repress beta-catenin-mediated transcriptional activation and is a negative regulator of the Wnt signaling pathway. It negatively regulates microtubule severing at centrosomes, and is necessary for central spindle formation and cytokinesis completion. It is implicated in cancer, where it may inhibit cell proliferation and decrease susceptibility to tumor development. Alternative splicing of this gene results in multiple transcript variants.
Source: NCBI Gene 84445 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 159 total
- MANE Select transcript:
NM_001318100
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29381 |
| Approved symbol | LZTS2 |
| Name | leucine zipper tumor suppressor 2 |
| Location | 10q24.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1813, LAPSER1 |
| Ensembl gene | ENSG00000107816 |
| Ensembl biotype | protein_coding |
| OMIM | 610454 |
| Entrez | 84445 |
Gene structure
Transcript identifiers
Ensembl transcripts: 32 — 31 protein_coding, 1 retained_intron
ENST00000370220, ENST00000370223, ENST00000426584, ENST00000429732, ENST00000454422, ENST00000481129, ENST00000489526, ENST00000853681, ENST00000853682, ENST00000853691, ENST00000853699, ENST00000853700, ENST00000853702, ENST00000853703, ENST00000853704, ENST00000853705, ENST00000853706, ENST00000853707, ENST00000853708, ENST00000912443, ENST00000912444, ENST00000912445, ENST00000912446, ENST00000912447, ENST00000912448, ENST00000912449, ENST00000912450, ENST00000912451, ENST00000962995, ENST00000962996, ENST00000962997, ENST00000962998
RefSeq mRNA: 13 — MANE Select: NM_001318100
NM_001318099, NM_001318100, NM_001318101, NM_001394944, NM_001394945, NM_001394946, NM_001394947, NM_001394948, NM_001394949, NM_001394950, NM_001394951, NM_001394952, NM_032429
CCDS: CCDS7507
Canonical transcript exons
ENST00000454422 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000721492 | 101003507 | 101004166 |
| ENSE00000721496 | 101005458 | 101005715 |
| ENSE00001713685 | 100999808 | 100999952 |
| ENSE00003793022 | 101002497 | 101002946 |
| ENSE00003963719 | 101006485 | 101007833 |
Expression profiles
Bgee: expression breadth ubiquitous, 231 present calls, max score 97.44.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.0209 / max 123.7550, expressed in 1789 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 106629 | 10.2762 | 1608 |
| 106621 | 4.1573 | 1527 |
| 106626 | 2.1143 | 1019 |
| 106622 | 1.6057 | 916 |
| 106623 | 0.5711 | 323 |
| 106628 | 0.5439 | 357 |
| 106627 | 0.3773 | 170 |
| 106625 | 0.2262 | 87 |
| 106624 | 0.1488 | 55 |
Top tissues by expression
249 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of stomach | UBERON:0001199 | 97.44 | gold quality |
| popliteal artery | UBERON:0002250 | 96.89 | gold quality |
| tibial artery | UBERON:0007610 | 96.89 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 96.62 | gold quality |
| lower esophagus | UBERON:0013473 | 96.61 | gold quality |
| body of uterus | UBERON:0009853 | 96.56 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 96.56 | gold quality |
| right coronary artery | UBERON:0001625 | 96.52 | gold quality |
| aorta | UBERON:0000947 | 96.46 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 96.24 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 96.02 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 96.00 | gold quality |
| ascending aorta | UBERON:0001496 | 95.98 | gold quality |
| thoracic aorta | UBERON:0001515 | 95.98 | gold quality |
| endocervix | UBERON:0000458 | 95.72 | gold quality |
| right ovary | UBERON:0002118 | 95.69 | gold quality |
| left uterine tube | UBERON:0001303 | 95.67 | gold quality |
| spinal cord | UBERON:0002240 | 95.50 | gold quality |
| left ovary | UBERON:0002119 | 95.41 | gold quality |
| left coronary artery | UBERON:0001626 | 95.34 | gold quality |
| coronary artery | UBERON:0001621 | 95.28 | gold quality |
| apex of heart | UBERON:0002098 | 95.28 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 94.91 | gold quality |
| omental fat pad | UBERON:0010414 | 94.81 | gold quality |
| peritoneum | UBERON:0002358 | 94.77 | gold quality |
| saphenous vein | UBERON:0007318 | 94.53 | gold quality |
| left adrenal gland | UBERON:0001234 | 94.52 | gold quality |
| adrenal cortex | UBERON:0001235 | 94.45 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 94.18 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 94.08 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.59 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NFKB
miRNA regulators (miRDB)
62 targeting LZTS2, 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-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-4302 | 99.89 | 67.94 | 1187 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| HSA-LET-7G-3P | 99.85 | 70.43 | 1929 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-4719 | 99.73 | 72.10 | 3329 |
| HSA-MIR-6716-5P | 99.56 | 68.62 | 1244 |
| HSA-MIR-582-5P | 99.47 | 70.79 | 2635 |
| HSA-MIR-6839-3P | 99.39 | 68.86 | 1301 |
| HSA-MIR-6882-5P | 99.35 | 71.13 | 1206 |
Literature-anchored findings (GeneRIF, showing 9)
- LZTS2 is a beta-catenin-interacting protein and modulates beta-catenin signaling and localization (PMID:17000760)
- The reciprocal crosstalk between beta-catenin/Tcf pathway and NF-kappaB signaling in hMSCs is mediated through the regulation of lzts2 expression. (PMID:17950943)
- LAPSER1 C terminal domain inhibits katanin(p80/p60)-mediated microtubule severing in vitro. (PMID:18490357)
- deletion of Lzts2 increases susceptibility to spontaneous and carcinogen-induced tumor development. (PMID:23275340)
- LZTS2 could inhibit cell proliferation and cell cycle transition at the G1/S phase and was implicated in the regulation of proteins associated with the canonical Wnt pathway, including GSK3B and beta-catenin through inactivating the Akt pathway. (PMID:23761130)
- Study found that LZTS2 was downregulated in nasopharyngeal carcinoma patients and predicted poor prognosis. Functionally, we showed that LZTS2 suppresses tumorigenesis and radioresistance in nasopharyngeal carcinoma in a p85-dependent manner. (PMID:29409973)
- LZTS2 promoter hypermethylation is associated with laryngeal squamous cell carcinoma. (PMID:29499699)
- LZTS2: A novel and independent prognostic biomarker for clear cell renal cell carcinoma. (PMID:35287088)
- Phosphorylation of LZTS2 by PLK1 activates the Wnt pathway. (PMID:38740232)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lzts2a | ENSDARG00000074597 |
| danio_rerio | lzts2b | ENSDARG00000077207 |
| mus_musculus | Lzts2 | ENSMUSG00000035342 |
| rattus_norvegicus | Lzts2 | ENSRNOG00000014969 |
| drosophila_melanogaster | CG15365 | FBGN0030077 |
| caenorhabditis_elegans | WBGENE00018033 |
Paralogs (2): LZTS1 (ENSG00000061337), LZTS3 (ENSG00000088899)
Protein
Protein identifiers
Leucine zipper putative tumor suppressor 2 — Q9BRK4 (reviewed: Q9BRK4)
Alternative names: Protein LAPSER1
All UniProt accessions (5): Q9BRK4, B1AL11, B1AL12, B1AL13, S4R3W7
UniProt curated annotations — full annotation on UniProt →
Function. Negative regulator of katanin-mediated microtubule severing and release from the centrosome. Required for central spindle formation and the completion of cytokinesis. May negatively regulate axonal outgrowth by preventing the formation of microtubule bundles that are necessary for transport within the elongating axon. Negative regulator of the Wnt signaling pathway. Represses beta-catenin-mediated transcriptional activation by promoting the nuclear exclusion of beta-catenin.
Subunit / interactions. Interacts with KATNB1. Also interacts with CTNNB1, gamma-tubulin and KIF23.
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome.
Tissue specificity. Highly expressed in prostate and testis, and at slightly lower levels in spleen, thymus, uterus, small intestine and colon.
Induction. By inhibition of NF-kappa-B signaling.
Similarity. Belongs to the LZTS2 family.
RefSeq proteins (13): NP_001305028, NP_001305029, NP_001305030, NP_001381873, NP_001381874, NP_001381875, NP_001381876, NP_001381877, NP_001381878, NP_001381879, NP_001381880, NP_001381881, NP_115805 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR028597 | LZTS2 | Family |
| IPR045329 | LZTS | Family |
Pfam: PF06818
UniProt features (28 total): compositionally biased region 9, region of interest 7, modified residue 3, sequence variant 3, mutagenesis site 2, chain 1, sequence conflict 1, coiled-coil region 1, short sequence motif 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BRK4-F1 | 67.67 | 0.42 |
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 (3): 249, 296, 570
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 638 | induces nuclear accumulation. impairs nuclear exclusion of beta-catenin; when associated with a-640. |
| 640 | induces nuclear accumulation. impairs nuclear exclusion of beta-catenin; when associated with a-38. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 204 (showing top):
GSE45365_NK_CELL_VS_CD11B_DC_UP, GOBP_MITOTIC_CYTOKINESIS, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_URETER_DEVELOPMENT, LFA1_Q6, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_GROWTH, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, MEF2_02, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, FOXO4_01, GOBP_KIDNEY_EPITHELIUM_DEVELOPMENT, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5
GO Biological Process (14): mitotic cytokinesis (GO:0000281), Wnt signaling pathway (GO:0016055), fibroblast proliferation (GO:0048144), negative regulation of fibroblast proliferation (GO:0048147), microtubule severing (GO:0051013), nuclear export (GO:0051168), spindle midzone assembly (GO:0051255), primary ureteric bud growth (GO:0060682), ureter morphogenesis (GO:0072197), negative regulation of canonical Wnt signaling pathway (GO:0090090), negative regulation of protein localization to nucleus (GO:1900181), kidney development (GO:0001822), negative regulation of Wnt signaling pathway (GO:0030178), cell division (GO:0051301)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (8): centrosome (GO:0005813), cytosol (GO:0005829), microtubule (GO:0005874), plasma membrane (GO:0005886), midbody (GO:0030496), vesicle (GO:0031982), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| mitotic cell cycle | 1 |
| cytoskeleton-dependent cytokinesis | 1 |
| mitotic cell cycle process | 1 |
| cell surface receptor signaling pathway | 1 |
| cell population proliferation | 1 |
| negative regulation of cell population proliferation | 1 |
| fibroblast proliferation | 1 |
| regulation of fibroblast proliferation | 1 |
| microtubule cytoskeleton organization | 1 |
| nucleocytoplasmic transport | 1 |
| intercellular transport | 1 |
| microtubule-based process | 1 |
| cell cycle process | 1 |
| cellular component assembly | 1 |
| spindle assembly | 1 |
| developmental growth involved in morphogenesis | 1 |
| ureteric bud elongation | 1 |
| animal organ morphogenesis | 1 |
| tube morphogenesis | 1 |
| ureter development | 1 |
| negative regulation of Wnt signaling pathway | 1 |
| canonical Wnt signaling pathway | 1 |
| regulation of canonical Wnt signaling pathway | 1 |
| protein localization to nucleus | 1 |
| regulation of protein localization to nucleus | 1 |
| negative regulation of protein localization | 1 |
| animal organ development | 1 |
| renal system development | 1 |
| negative regulation of signal transduction | 1 |
| Wnt signaling pathway | 1 |
| regulation of Wnt signaling pathway | 1 |
| cellular process | 1 |
| binding | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| cytoplasm | 1 |
| microtubule cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
| membrane | 1 |
Protein interactions and networks
STRING
1577 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LZTS2 | KATNB1 | Q9BVA0 | 892 |
| LZTS2 | KATNA1 | O75449 | 821 |
| LZTS2 | SHANK3 | Q9BYB0 | 786 |
| LZTS2 | SIPA1L1 | O43166 | 716 |
| LZTS2 | MXI1 | P50539 | 662 |
| LZTS2 | FHIP1A | Q05DH4 | 596 |
| LZTS2 | CTNNB1 | P35222 | 586 |
| LZTS2 | SHANK2 | Q9UPX8 | 542 |
| LZTS2 | FAM117A | Q9C073 | 532 |
| LZTS2 | PROSER3 | Q2NL68 | 467 |
| LZTS2 | PTEN | P60484 | 455 |
| LZTS2 | RNF169 | Q8NCN4 | 453 |
| LZTS2 | DLG4 | P78352 | 412 |
| LZTS2 | DLG5 | Q8TDM6 | 412 |
| LZTS2 | TMEM86A | Q8N2M4 | 410 |
| LZTS2 | MYO6 | Q9UM54 | 410 |
IntAct
908 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RAD51D | LZTS2 | psi-mi:“MI:0915”(physical association) | 0.810 |
| RIN1 | LZTS2 | psi-mi:“MI:0915”(physical association) | 0.810 |
| LZTS2 | ZGPAT | psi-mi:“MI:0915”(physical association) | 0.810 |
| LZTS2 | RAD51D | psi-mi:“MI:0915”(physical association) | 0.810 |
| LZTS2 | FKBP6 | psi-mi:“MI:0915”(physical association) | 0.780 |
| HSPD1 | LZTS2 | psi-mi:“MI:0915”(physical association) | 0.780 |
| BAHD1 | LZTS2 | psi-mi:“MI:0915”(physical association) | 0.780 |
| FKBP6 | LZTS2 | psi-mi:“MI:0915”(physical association) | 0.780 |
| SUV39H1 | LZTS2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| LZTS2 | NCK2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| PQBP1 | LZTS2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| USP2 | LZTS2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| QARS1 | LZTS2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| LZTS2 | GEM | psi-mi:“MI:0915”(physical association) | 0.720 |
| LZTS2 | BYSL | psi-mi:“MI:0915”(physical association) | 0.720 |
| FAM161A | LZTS2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ZNF572 | LZTS2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| LZTS2 | ATPAF2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| LZTS2 | MAB21L3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| LZTS2 | ZNF417 | psi-mi:“MI:0915”(physical association) | 0.720 |
| LZTS2 | POLDIP3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| LZTS2 | KAT5 | psi-mi:“MI:0915”(physical association) | 0.720 |
| LZTS2 | DCUN1D1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| LZTS2 | TNIP3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| THAP7 | LZTS2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| LZTS2 | CBX8 | psi-mi:“MI:0915”(physical association) | 0.720 |
| AIRIM | LZTS2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| NCK2 | LZTS2 | psi-mi:“MI:0915”(physical association) | 0.720 |
BioGRID (714): LZTS2 (Two-hybrid), LZTS2 (Two-hybrid), LZTS2 (Two-hybrid), LZTS2 (Two-hybrid), LZTS2 (Two-hybrid), LZTS2 (Two-hybrid), LZTS2 (Two-hybrid), LZTS2 (Two-hybrid), LZTS2 (Two-hybrid), LZTS2 (Two-hybrid), LZTS2 (Two-hybrid), LZTS2 (Two-hybrid), LZTS2 (Two-hybrid), LZTS2 (Two-hybrid), LZTS2 (Two-hybrid)
ESM2 similar proteins: A0A8I3QA39, A1YB07, A2A6T1, A2A9T0, A2AHG0, A5PKL7, A6NKD9, A7MCY6, B8A5S6, D3ZD05, E1BEQ5, E1U8D0, E9Q6B2, F1MRK3, G3V735, O14529, O60299, O75145, O94964, P60469, Q1LZH7, Q3LUD4, Q3UIL6, Q499E4, Q5JTD0, Q5RCR6, Q5XIA0, Q62036, Q63ZY3, Q6DG50, Q6IQ23, Q6NZT2, Q6PDH0, Q86UU1, Q86X02, Q8BX02, Q8C7U1, Q8IY63, Q8K1Q4, Q8K371
Diamond homologs: A0A1L8GUX5, A0A1L8GXY6, A2AHG0, A5PKL7, O15049, O60299, P60853, Q3LUD3, Q3LUD4, Q5U4W1, Q6DIS8, Q8C7U1, Q8CFC9, Q8K1Q4, Q91YU6, Q9BRK4, Q9Y250, Q5ZLT3
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
159 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 148 |
| Likely benign | 4 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1201 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:101002944:AAGGT:A | donor_loss | 1.0000 |
| 10:101002945:AGGT:A | donor_loss | 1.0000 |
| 10:101002946:GGTG:G | donor_loss | 1.0000 |
| 10:101005453:TGCA:T | acceptor_loss | 1.0000 |
| 10:101005454:GCAG:G | acceptor_loss | 1.0000 |
| 10:101005455:CA:C | acceptor_loss | 1.0000 |
| 10:101005456:A:AG | acceptor_gain | 1.0000 |
| 10:101005456:A:AT | acceptor_loss | 1.0000 |
| 10:101005457:G:A | acceptor_loss | 1.0000 |
| 10:101005457:G:GG | acceptor_gain | 1.0000 |
| 10:101005605:G:GT | donor_gain | 1.0000 |
| 10:101005670:G:GT | donor_gain | 1.0000 |
| 10:101005679:G:GT | donor_gain | 1.0000 |
| 10:101005701:G:GT | donor_gain | 1.0000 |
| 10:101005702:A:T | donor_gain | 1.0000 |
| 10:101005709:G:GG | donor_gain | 1.0000 |
| 10:101005713:G:GT | donor_gain | 1.0000 |
| 10:101005713:G:T | donor_gain | 1.0000 |
| 10:101005714:AG:A | donor_loss | 1.0000 |
| 10:101005715:GGTG:G | donor_loss | 1.0000 |
| 10:101005716:G:GA | donor_loss | 1.0000 |
| 10:101005717:T:G | donor_loss | 1.0000 |
| 10:101006477:A:AG | acceptor_gain | 1.0000 |
| 10:101006480:CCCA:C | acceptor_loss | 1.0000 |
| 10:101006481:CCA:C | acceptor_loss | 1.0000 |
| 10:101006482:CAG:C | acceptor_loss | 1.0000 |
| 10:101006483:A:AG | acceptor_gain | 1.0000 |
| 10:101006484:G:GG | acceptor_gain | 1.0000 |
| 10:101006484:GGT:G | acceptor_gain | 1.0000 |
| 10:101006484:GGTGT:G | acceptor_gain | 1.0000 |
AlphaMissense
1388 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:101003528:C:A | R144S | 0.998 |
| 10:101003538:C:A | A147D | 0.998 |
| 10:101003541:T:C | F148S | 0.998 |
| 10:101003540:T:C | F148L | 0.997 |
| 10:101003542:C:A | F148L | 0.997 |
| 10:101003542:C:G | F148L | 0.997 |
| 10:101003545:G:C | K149N | 0.996 |
| 10:101003545:G:T | K149N | 0.996 |
| 10:101003528:C:G | R144G | 0.994 |
| 10:101003543:A:G | K149E | 0.994 |
| 10:101003526:T:A | I143N | 0.993 |
| 10:101003526:T:C | I143T | 0.993 |
| 10:101002620:A:C | S28R | 0.992 |
| 10:101002622:T:A | S28R | 0.992 |
| 10:101002622:T:G | S28R | 0.992 |
| 10:101003526:T:G | I143S | 0.992 |
| 10:101003754:A:T | D219V | 0.991 |
| 10:101003532:C:T | P145L | 0.990 |
| 10:101003541:T:G | F148C | 0.990 |
| 10:101002629:A:C | S31R | 0.989 |
| 10:101002631:C:A | S31R | 0.989 |
| 10:101002631:C:G | S31R | 0.989 |
| 10:101003532:C:A | P145Q | 0.988 |
| 10:101003532:C:G | P145R | 0.988 |
| 10:101003540:T:A | F148I | 0.987 |
| 10:101003531:C:A | P145T | 0.984 |
| 10:101003753:G:C | D219H | 0.984 |
| 10:101002927:T:A | V130D | 0.983 |
| 10:101003754:A:C | D219A | 0.980 |
| 10:101002617:G:C | G27R | 0.979 |
dbSNP variants (sampled 300 via entrez): RS1000158407 (10:101001507 GC>G), RS1000194497 (10:100995980 C>T), RS1000246107 (10:100998915 C>T), RS1000279109 (10:101000494 G>A), RS1000283410 (10:101000279 C>T), RS1000486704 (10:101005827 C>T), RS1000552161 (10:100997503 C>T), RS1000910310 (10:101008218 C>T), RS1001449828 (10:101003720 T>TG,TGG), RS1001802642 (10:100999276 G>A), RS1002301556 (10:100997658 C>G,T), RS1002593154 (10:100995073 A>C), RS1002760582 (10:100997328 G>A,C), RS1002769480 (10:101000115 G>A), RS1002902102 (10:101006651 C>A,T)
Disease associations
OMIM: gene MIM:610454 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002281_18 | Ejection fraction in Tripanosoma cruzi seropositivity | 4.000000e-07 |
| GCST006921_7 | Regular attendance at a pub or social club | 1.000000e-08 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005527 | ejection fraction measurement |
| EFO:0009592 | social interaction measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, decreases methylation, affects cotreatment, increases expression | 3 |
| Valproic Acid | affects expression, decreases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | decreases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | decreases methylation, increases methylation | 1 |
| Cadmium | increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Indomethacin | increases expression, affects cotreatment | 1 |
| Lead | decreases expression | 1 |
| Malathion | decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Urethane | 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.