SEPTIN10
gene geneOn this page
Also known as FLJ11619Septin-10
Summary
SEPTIN10 (septin 10, HGNC:14349) is a protein-coding gene on chromosome 2q13, encoding Septin-10 (Q9P0V9). Filament-forming cytoskeletal GTPase.
This gene encodes a member of the septin family of cytoskeletal proteins with GTPase activity. This protein localizes to the cytoplasm and nucleus and displays GTP-binding and GTPase activity. A pseudogene for this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 151011 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 4 total
- MANE Select transcript:
NM_144710
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14349 |
| Approved symbol | SEPTIN10 |
| Name | septin 10 |
| Location | 2q13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ11619, Septin-10 |
| Ensembl gene | ENSG00000186522 |
| Ensembl biotype | protein_coding |
| OMIM | 611737 |
| Entrez | 151011 |
Gene structure
Transcript identifiers
Ensembl transcripts: 28 — 24 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000356688, ENST00000397712, ENST00000397714, ENST00000411469, ENST00000415095, ENST00000423520, ENST00000425498, ENST00000437928, ENST00000442746, ENST00000461295, ENST00000468616, ENST00000483047, ENST00000486678, ENST00000493445, ENST00000894640, ENST00000894641, ENST00000894642, ENST00000894643, ENST00000894644, ENST00000894645, ENST00000894646, ENST00000894647, ENST00000934718, ENST00000934719, ENST00000934720, ENST00000948158, ENST00000948159, ENST00000948160
RefSeq mRNA: 21 — MANE Select: NM_144710
NM_001321496, NM_001321498, NM_001321499, NM_001321500, NM_001321501, NM_001321502, NM_001321503, NM_001321504, NM_001321505, NM_001321506, NM_001321507, NM_001321508, NM_001321509, NM_001321510, NM_001321511, NM_001321512, NM_001321513, NM_001321514, NM_001321515, NM_144710, NM_178584
CCDS: CCDS42726, CCDS46383, CCDS82496, CCDS82497
Canonical transcript exons
ENST00000397712 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001659459 | 109553087 | 109553219 |
| ENSE00002479198 | 109546050 | 109546237 |
| ENSE00002481830 | 109585721 | 109585838 |
| ENSE00002696538 | 109613798 | 109613966 |
| ENSE00003481666 | 109593051 | 109593119 |
| ENSE00003504356 | 109564366 | 109564534 |
| ENSE00003553427 | 109574581 | 109574767 |
| ENSE00003598204 | 109542799 | 109544324 |
| ENSE00003607263 | 109585126 | 109585321 |
| ENSE00003644271 | 109565763 | 109565859 |
| ENSE00003663283 | 109567815 | 109567976 |
Expression profiles
Bgee: expression breadth ubiquitous, 291 present calls, max score 98.80.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.8505 / max 271.3708, expressed in 1660 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 30105 | 14.8721 | 1589 |
| 30108 | 8.3027 | 1509 |
| 30106 | 0.7106 | 452 |
| 30107 | 0.6151 | 370 |
| 30110 | 0.5357 | 271 |
| 30111 | 0.4130 | 228 |
| 30109 | 0.2737 | 137 |
| 30104 | 0.1275 | 26 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| skin of hip | UBERON:0001554 | 98.80 | gold quality |
| upper leg skin | UBERON:0004262 | 98.73 | gold quality |
| oral cavity | UBERON:0000167 | 98.39 | gold quality |
| upper arm skin | UBERON:0004263 | 98.37 | gold quality |
| blood vessel layer | UBERON:0004797 | 98.31 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 98.29 | gold quality |
| penis | UBERON:0000989 | 98.25 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 98.22 | gold quality |
| hair follicle | UBERON:0002073 | 98.07 | gold quality |
| amniotic fluid | UBERON:0000173 | 97.91 | gold quality |
| parietal pleura | UBERON:0002400 | 97.85 | gold quality |
| calcaneal tendon | UBERON:0003701 | 97.79 | gold quality |
| synovial joint | UBERON:0002217 | 97.72 | gold quality |
| gingiva | UBERON:0001828 | 97.62 | gold quality |
| pleura | UBERON:0000977 | 97.54 | gold quality |
| lower lobe of lung | UBERON:0008949 | 97.47 | gold quality |
| visceral pleura | UBERON:0002401 | 97.46 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 97.45 | gold quality |
| mammalian vulva | UBERON:0000997 | 97.43 | gold quality |
| gingival epithelium | UBERON:0001949 | 97.41 | gold quality |
| squamous epithelium | UBERON:0006914 | 97.25 | gold quality |
| urethra | UBERON:0000057 | 97.17 | gold quality |
| cauda epididymis | UBERON:0004360 | 97.14 | gold quality |
| urinary bladder | UBERON:0001255 | 97.04 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 97.01 | gold quality |
| cartilage tissue | UBERON:0002418 | 96.99 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 96.86 | gold quality |
| saphenous vein | UBERON:0007318 | 96.86 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 96.82 | gold quality |
| mammary duct | UBERON:0001765 | 96.76 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 12.91 |
| E-CURD-112 | no | 3.05 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
82 targeting SEPTIN10, 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-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-4697-3P | 99.89 | 67.09 | 1123 |
Literature-anchored findings (GeneRIF, showing 6)
- Cloning and functional characterization of septin 10. (PMID:12711328)
- Lack of SEPT10 transcript is associated with B-cell chronic lymphocytic leukemia (PMID:17657217)
- we found that paclitaxel-resistant tumors had decreased expression of SEPT10. (PMID:22320903)
- miR-124-3p regulates the proliferation and differentiation of retinal progenitor cells through SEPT10. (PMID:36802303)
- Exosomal circCLIP1 regulates PM2.5-induced airway obstruction via targeting SEPT10 in vitro. (PMID:36950992)
- SEPTIN10-mediated crosstalk between cytoskeletal networks controls mechanotransduction and oncogenic YAP/TAZ signaling. (PMID:38242197)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | septin10 | ENSDARG00000099236 |
| mus_musculus | Septin10 | ENSMUSG00000019917 |
| rattus_norvegicus | Septin10 | ENSRNOG00000049507 |
| drosophila_melanogaster | Septin5 | FBGN0026361 |
Paralogs (12): SEPTIN3 (ENSG00000100167), SEPTIN7 (ENSG00000122545), SEPTIN6 (ENSG00000125354), SEPTIN11 (ENSG00000138758), SEPTIN12 (ENSG00000140623), SEPTIN14 (ENSG00000154997), SEPTIN8 (ENSG00000164402), SEPTIN2 (ENSG00000168385), SEPTIN1 (ENSG00000180096), SEPTIN9 (ENSG00000184640), SEPTIN5 (ENSG00000184702), TMEM250 (ENSG00000238227)
Protein
Protein identifiers
Septin-10 — Q9P0V9 (reviewed: Q9P0V9)
All UniProt accessions (11): B5ME97, C9JEQ7, C9JEW2, C9JNR7, E7EW69, E7EX04, Q9P0V9, F5GYV2, F5H1F2, F5H1W3, F8WC85
UniProt curated annotations — full annotation on UniProt →
Function. Filament-forming cytoskeletal GTPase. May play a role in cytokinesis (Potential).
Subunit / interactions. Septins polymerize into heterooligomeric protein complexes that form filaments, and can associate with cellular membranes, actin filaments and microtubules. GTPase activity is required for filament formation. Interacts with ADGB.
Subcellular location. Cytoplasm. Cytoskeleton. Cell projection. Cilium. Flagellum.
Tissue specificity. Widely expressed. Abundantly expressed in heart and kidney, placenta, skeletal muscles, liver and lung, as well as various tumor cell lines.
Post-translational modifications. Proteolytically cleaved in vitro in a calmodulin-dependent manner.
Similarity. Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9P0V9-1 | 1 | yes |
| Q9P0V9-2 | 2 | |
| Q9P0V9-3 | 3 |
RefSeq proteins (21): NP_001308425, NP_001308427, NP_001308428, NP_001308429, NP_001308430, NP_001308431, NP_001308432, NP_001308433, NP_001308434, NP_001308435, NP_001308436, NP_001308437, NP_001308438, NP_001308439, NP_001308440, NP_001308441, NP_001308442, NP_001308443, NP_001308444, NP_653311, NP_848699 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR016491 | Septin | Family |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR030379 | G_SEPTIN_dom | Domain |
Pfam: PF00735
UniProt features (13 total): binding site 5, region of interest 3, splice variant 2, chain 1, domain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9P0V9-F1 | 81.07 | 0.51 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (5): 73–80; 128; 209–217; 263; 278
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 211 (showing top):
HORIUCHI_WTAP_TARGETS_DN, MYOGENIN_Q6, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GEORGES_CELL_CYCLE_MIR192_TARGETS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GTGCCTT_MIR506, PICCALUGA_ANGIOIMMUNOBLASTIC_LYMPHOMA_UP, ONKEN_UVEAL_MELANOMA_UP, GOBP_CYTOKINESIS, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, DAZARD_RESPONSE_TO_UV_SCC_UP, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_DN, FLECHNER_BIOPSY_KIDNEY_TRANSPLANT_REJECTED_VS_OK_DN, BURTON_ADIPOGENESIS_10, PITX2_Q2
GO Biological Process (3): intracellular protein localization (GO:0008104), cytoskeleton-dependent cytokinesis (GO:0061640), cell division (GO:0051301)
GO Molecular Function (5): GTPase activity (GO:0003924), GTP binding (GO:0005525), molecular adaptor activity (GO:0060090), nucleotide binding (GO:0000166), protein binding (GO:0005515)
GO Cellular Component (9): septin ring (GO:0005940), microtubule cytoskeleton (GO:0015630), septin complex (GO:0031105), motile cilium (GO:0031514), cell division site (GO:0032153), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cilium (GO:0005929), cell projection (GO:0042995)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| binding | 2 |
| cytoskeleton | 2 |
| cell cortex | 2 |
| septin cytoskeleton | 2 |
| macromolecule localization | 1 |
| cytokinesis | 1 |
| cellular process | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| molecular_function | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| protein-containing complex | 1 |
| cilium | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| intraciliary transport particle | 1 |
| membrane-bounded organelle | 1 |
| plasma membrane bounded cell projection | 1 |
Protein interactions and networks
STRING
528 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SEPTIN10 | SEPTIN11 | Q9NVA2 | 747 |
| SEPTIN10 | SEPTIN4 | O43236 | 687 |
| SEPTIN10 | SEPTIN9 | Q9UHD8 | 588 |
| SEPTIN10 | SEPTIN7 | Q16181 | 554 |
| SEPTIN10 | SEPTIN1 | Q8WYJ6 | 533 |
| SEPTIN10 | SEPTIN6 | Q14141 | 477 |
| SEPTIN10 | SH3RF3 | Q8TEJ3 | 462 |
| SEPTIN10 | SEPTIN2 | Q15019 | 420 |
| SEPTIN10 | SEPTIN8 | Q92599 | 409 |
| SEPTIN10 | ADAM29 | Q9UKF5 | 400 |
| SEPTIN10 | SEPTIN14 | Q6ZU15 | 396 |
| SEPTIN10 | CDC42EP2 | O14613 | 388 |
| SEPTIN10 | CDC42EP5 | Q6NZY7 | 378 |
| SEPTIN10 | LDOC1 | O95751 | 349 |
| SEPTIN10 | AKAP17A | Q02040 | 330 |
IntAct
64 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SEPTIN2 | SEPTIN6 | psi-mi:“MI:0914”(association) | 0.950 |
| SEPTIN6 | SEPTIN2 | psi-mi:“MI:0914”(association) | 0.950 |
| SEPTIN7 | SEPTIN6 | psi-mi:“MI:0914”(association) | 0.850 |
| SEPTIN12 | SEPTIN6 | psi-mi:“MI:0914”(association) | 0.830 |
| SEPTIN3 | SEPTIN6 | psi-mi:“MI:0914”(association) | 0.800 |
| SEPTIN12 | SEPTIN4 | psi-mi:“MI:0914”(association) | 0.730 |
| SEPTIN10 | SEPTIN5 | psi-mi:“MI:0915”(physical association) | 0.670 |
| SEPTIN5 | SEPTIN10 | psi-mi:“MI:0915”(physical association) | 0.670 |
| SEPTIN10 | SEPTIN7 | psi-mi:“MI:0915”(physical association) | 0.670 |
| SEPTIN11 | SEPTIN6 | psi-mi:“MI:0914”(association) | 0.640 |
| RALBP1 | JUN | psi-mi:“MI:0914”(association) | 0.640 |
| IGF1R | PIK3R2 | psi-mi:“MI:2364”(proximity) | 0.590 |
| SEPTIN10 | SEPTIN7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEPTIN7 | SEPTIN10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDC42EP4 | SEPTIN6 | psi-mi:“MI:0914”(association) | 0.530 |
| SEPTIN10 | SEPTIN2 | psi-mi:“MI:0914”(association) | 0.530 |
| SEPTIN7 | SEPTIN4 | psi-mi:“MI:0914”(association) | 0.530 |
| GNAT3 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| SEPTIN10 | LSM8 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (234): SEPT10 (Two-hybrid), SEPT10 (Two-hybrid), SEPT10 (Affinity Capture-MS), SEPT10 (Affinity Capture-MS), SEPT10 (Affinity Capture-MS), SEPT10 (Affinity Capture-MS), SEPT10 (Affinity Capture-MS), CORO1C (Co-fractionation), SEPT10 (Co-fractionation), SEPT10 (Co-fractionation), SEPT10 (Co-fractionation), SEPT10 (Co-fractionation), SEPT10 (Co-fractionation), SEPT10 (Co-fractionation), SEPT10 (Affinity Capture-MS)
ESM2 similar proteins: A0A096MJN4, A2BGU8, A4FUM1, A5D7Q3, A5PJU9, A6QQL3, B0BNF1, B0KWP7, B1H120, B1MTN8, B2KIE9, B3GNI6, B5FW69, O36023, O43236, P28661, P32468, P40797, P42209, P48010, Q08DM7, Q0VC68, Q0VCP4, Q14141, Q2KJB1, Q3SZN0, Q4R4X5, Q4R555, Q4V8G5, Q5EB96, Q5PQK1, Q5R6R7, Q5REG8, Q6AXA6, Q6IRQ5, Q8C1B7, Q8C650, Q8CHH9, Q8IYM1, Q92599
Diamond homologs: A0A096MJN4, A0A3Q0KDV9, A1L0Y5, A2BGU8, A2VE99, A4FUM1, A5D7Q3, A5PJU9, A6QQL3, B0BNF1, B0KWP7, B1H120, B1MTN8, B2KIE9, B3GNI6, B5FW69, G1UB61, O36023, O43236, O55131, O60165, P25342, P28661, P32457, P32458, P32468, P39826, P39827, P40797, P41901, P42207, P42208, P42209, P48008, P48009, P48010, P54359, Q04921, Q08DM7, Q09116
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 60 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoskeleton-dependent cytokinesis | 10 | 151.4× | 6e-18 |
| intracellular protein localization | 10 | 19.8× | 1e-08 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
4 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 3 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2565 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:109546049:CTT:C | donor_gain | 1.0000 |
| 2:109564535:C:CC | acceptor_gain | 1.0000 |
| 2:109567809:GCTCA:G | donor_loss | 1.0000 |
| 2:109567810:CTCAC:C | donor_loss | 1.0000 |
| 2:109567811:TCACA:T | donor_loss | 1.0000 |
| 2:109567812:CACAT:C | donor_loss | 1.0000 |
| 2:109567813:A:AC | donor_gain | 1.0000 |
| 2:109567813:A:C | donor_loss | 1.0000 |
| 2:109567814:C:CA | donor_gain | 1.0000 |
| 2:109567814:CATT:C | donor_gain | 1.0000 |
| 2:109567972:TTTAC:T | acceptor_gain | 1.0000 |
| 2:109567973:TTAC:T | acceptor_gain | 1.0000 |
| 2:109567974:TACC:T | acceptor_loss | 1.0000 |
| 2:109567976:CC:C | acceptor_loss | 1.0000 |
| 2:109567980:T:C | acceptor_gain | 1.0000 |
| 2:109567980:T:TC | acceptor_gain | 1.0000 |
| 2:109574569:T:A | donor_gain | 1.0000 |
| 2:109585121:CATA:C | donor_loss | 1.0000 |
| 2:109585122:ATAC:A | donor_loss | 1.0000 |
| 2:109585123:TA:T | donor_loss | 1.0000 |
| 2:109585125:C:G | donor_loss | 1.0000 |
| 2:109585125:CCT:C | donor_gain | 1.0000 |
| 2:109585125:CCTCT:C | donor_gain | 1.0000 |
| 2:109585198:T:A | donor_gain | 1.0000 |
| 2:109585322:C:CC | acceptor_gain | 1.0000 |
| 2:109593049:A:AC | donor_gain | 1.0000 |
| 2:109593050:C:CC | donor_gain | 1.0000 |
| 2:109593050:CTAT:C | donor_gain | 1.0000 |
| 2:109593120:C:CC | acceptor_gain | 1.0000 |
| 2:109546048:A:AC | donor_gain | 0.9900 |
AlphaMissense
3056 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:109564465:A:G | L310P | 0.999 |
| 2:109565778:A:G | W282R | 0.998 |
| 2:109565778:A:T | W282R | 0.998 |
| 2:109565840:A:T | V261D | 0.998 |
| 2:109564501:A:G | L298P | 0.997 |
| 2:109574656:A:C | C175W | 0.997 |
| 2:109574658:A:G | C175R | 0.997 |
| 2:109564498:C:G | R299P | 0.996 |
| 2:109565789:C:G | R278P | 0.996 |
| 2:109565790:G:T | R278S | 0.996 |
| 2:109565843:G:T | A260D | 0.996 |
| 2:109567966:A:T | I204K | 0.996 |
| 2:109567971:G:C | N202K | 0.996 |
| 2:109567971:G:T | N202K | 0.996 |
| 2:109585321:C:T | G73E | 0.996 |
| 2:109585721:C:A | G73W | 0.996 |
| 2:109585729:A:G | L70P | 0.996 |
| 2:109565849:G:T | P258Q | 0.995 |
| 2:109567954:G:T | A208D | 0.995 |
| 2:109574670:G:T | R171S | 0.995 |
| 2:109585294:A:G | L82P | 0.995 |
| 2:109585721:C:G | G73R | 0.995 |
| 2:109585721:C:T | G73R | 0.995 |
| 2:109564426:C:G | R323T | 0.994 |
| 2:109564489:A:G | L302P | 0.994 |
| 2:109574591:A:G | L197P | 0.994 |
| 2:109585177:A:G | L121S | 0.994 |
| 2:109585321:C:A | G73V | 0.994 |
| 2:109564515:A:C | C293W | 0.993 |
| 2:109564517:A:G | C293R | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000035955 (2:109544151 G>A,C,T), RS1000045476 (2:109571818 A>T), RS1000059540 (2:109572378 C>T), RS1000113076 (2:109596155 C>T), RS1000115271 (2:109612423 G>A,T), RS1000163412 (2:109600776 A>G), RS1000230933 (2:109562607 CTGA>C), RS1000248042 (2:109568806 T>C), RS1000250726 (2:109596369 G>A,C), RS1000338111 (2:109555848 C>T), RS1000355125 (2:109597772 C>T), RS1000362439 (2:109590179 A>C,G), RS1000452028 (2:109562916 T>A), RS1000490362 (2:109574157 C>T), RS1000563086 (2:109613925 G>A,C,T)
Disease associations
OMIM: gene MIM:611737 | 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 |
|---|---|---|
| GCST003048_108 | Schizophrenia | 5.000000e-08 |
| GCST012490_96 | Femur bone mineral density x serum urate levels interaction | 4.000000e-10 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004531 | urate 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 |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, increases methylation | 4 |
| trichostatin A | affects cotreatment, decreases expression | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 2 |
| Aflatoxin B1 | decreases methylation, increases expression, increases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| bisphenol A | decreases expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| sodium arsenite | decreases expression, increases abundance | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| ciglitazone | affects binding, increases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| K 7174 | increases expression | 1 |
| fenpyroximate | increases expression | 1 |
| pyrimidifen | increases expression | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| abrine | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Cuprizone | increases expression | 1 |
| Dactinomycin | affects cotreatment, increases secretion | 1 |
| Ivermectin | decreases expression | 1 |
| Potassium Dichromate | increases expression | 1 |
| Silicon Dioxide | 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.