SEPTIN10

gene
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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

FieldValue
HGNC IDHGNC:14349
Approved symbolSEPTIN10
Nameseptin 10
Location2q13
Locus typegene with protein product
StatusApproved
AliasesFLJ11619, Septin-10
Ensembl geneENSG00000186522
Ensembl biotypeprotein_coding
OMIM611737
Entrez151011

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

ExonStartEnd
ENSE00001659459109553087109553219
ENSE00002479198109546050109546237
ENSE00002481830109585721109585838
ENSE00002696538109613798109613966
ENSE00003481666109593051109593119
ENSE00003504356109564366109564534
ENSE00003553427109574581109574767
ENSE00003598204109542799109544324
ENSE00003607263109585126109585321
ENSE00003644271109565763109565859
ENSE00003663283109567815109567976

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 IDTPM avgSamples expressed
3010514.87211589
301088.30271509
301060.7106452
301070.6151370
301100.5357271
301110.4130228
301090.2737137
301040.127526

Top tissues by expression

293 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
skin of hipUBERON:000155498.80gold quality
upper leg skinUBERON:000426298.73gold quality
oral cavityUBERON:000016798.39gold quality
upper arm skinUBERON:000426398.37gold quality
blood vessel layerUBERON:000479798.31gold quality
germinal epithelium of ovaryUBERON:000130498.29gold quality
penisUBERON:000098998.25gold quality
choroid plexus epitheliumUBERON:000391198.22gold quality
hair follicleUBERON:000207398.07gold quality
amniotic fluidUBERON:000017397.91gold quality
parietal pleuraUBERON:000240097.85gold quality
calcaneal tendonUBERON:000370197.79gold quality
synovial jointUBERON:000221797.72gold quality
gingivaUBERON:000182897.62gold quality
pleuraUBERON:000097797.54gold quality
lower lobe of lungUBERON:000894997.47gold quality
visceral pleuraUBERON:000240197.46gold quality
esophagus squamous epitheliumUBERON:000692097.45gold quality
mammalian vulvaUBERON:000099797.43gold quality
gingival epitheliumUBERON:000194997.41gold quality
squamous epitheliumUBERON:000691497.25gold quality
urethraUBERON:000005797.17gold quality
cauda epididymisUBERON:000436097.14gold quality
urinary bladderUBERON:000125597.04gold quality
tongue squamous epitheliumUBERON:000691997.01gold quality
cartilage tissueUBERON:000241896.99gold quality
epithelium of esophagusUBERON:000197696.86gold quality
saphenous veinUBERON:000731896.86gold quality
pharyngeal mucosaUBERON:000035596.82gold quality
mammary ductUBERON:000176596.76gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes12.91
E-CURD-112no3.05

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):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-9-5P100.0072.282361
HSA-MIR-3646100.0073.565283
HSA-LET-7A-3P100.0074.033932
HSA-LET-7B-3P100.0074.083913
HSA-LET-7F-1-3P100.0074.023928
HSA-MIR-98-3P100.0074.083907
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-3163100.0077.238605
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-1277-5P100.0073.955056
HSA-MIR-366299.9973.825684
HSA-MIR-223-3P99.9970.141140
HSA-MIR-1213699.9872.815713
HSA-MIR-56899.9869.862084
HSA-MIR-4789-5P99.9870.762721
HSA-MIR-391099.9571.132227
HSA-MIR-545-3P99.9570.742783
HSA-MIR-651-3P99.9473.485177
HSA-MIR-4760-3P99.9370.502385
HSA-MIR-6835-3P99.9370.492904
HSA-MIR-515-5P99.9269.822343
HSA-MIR-519E-5P99.9269.622358
HSA-MIR-205-3P99.9269.923165
HSA-MIR-568099.9169.833421
HSA-MIR-129799.9173.413162
HSA-MIR-367199.9073.043897
HSA-MIR-124-3P99.8973.743043
HSA-MIR-506-3P99.8973.553057
HSA-MIR-4697-3P99.8967.091123

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

OrganismSymbolGene ID
danio_rerioseptin10ENSDARG00000099236
mus_musculusSeptin10ENSMUSG00000019917
rattus_norvegicusSeptin10ENSRNOG00000049507
drosophila_melanogasterSeptin5FBGN0026361

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-10Q9P0V9 (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 IDNamesCanonical?
Q9P0V9-11yes
Q9P0V9-22
Q9P0V9-33

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)

IDNameType
IPR016491SeptinFamily
IPR027417P-loop_NTPaseHomologous_superfamily
IPR030379G_SEPTIN_domDomain

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)

ModelpLDDTFraction very-high
AF-Q9P0V9-F181.070.51

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:

CategoryTerms
cellular anatomical structure3
binding2
cytoskeleton2
cell cortex2
septin cytoskeleton2
macromolecule localization1
cytokinesis1
cellular process1
ribonucleoside triphosphate phosphatase activity1
guanyl ribonucleotide binding1
purine ribonucleoside triphosphate binding1
molecular_function1
nucleoside phosphate binding1
heterocyclic compound binding1
protein-containing complex1
cilium1
intracellular anatomical structure1
intracellular membraneless organelle1
intraciliary transport particle1
membrane-bounded organelle1
plasma membrane bounded cell projection1

Protein interactions and networks

STRING

528 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
SEPTIN10SEPTIN11Q9NVA2747
SEPTIN10SEPTIN4O43236687
SEPTIN10SEPTIN9Q9UHD8588
SEPTIN10SEPTIN7Q16181554
SEPTIN10SEPTIN1Q8WYJ6533
SEPTIN10SEPTIN6Q14141477
SEPTIN10SH3RF3Q8TEJ3462
SEPTIN10SEPTIN2Q15019420
SEPTIN10SEPTIN8Q92599409
SEPTIN10ADAM29Q9UKF5400
SEPTIN10SEPTIN14Q6ZU15396
SEPTIN10CDC42EP2O14613388
SEPTIN10CDC42EP5Q6NZY7378
SEPTIN10LDOC1O95751349
SEPTIN10AKAP17AQ02040330

IntAct

64 interactions, top by confidence:

ABTypeScore
SEPTIN2SEPTIN6psi-mi:“MI:0914”(association)0.950
SEPTIN6SEPTIN2psi-mi:“MI:0914”(association)0.950
SEPTIN7SEPTIN6psi-mi:“MI:0914”(association)0.850
SEPTIN12SEPTIN6psi-mi:“MI:0914”(association)0.830
SEPTIN3SEPTIN6psi-mi:“MI:0914”(association)0.800
SEPTIN12SEPTIN4psi-mi:“MI:0914”(association)0.730
SEPTIN10SEPTIN5psi-mi:“MI:0915”(physical association)0.670
SEPTIN5SEPTIN10psi-mi:“MI:0915”(physical association)0.670
SEPTIN10SEPTIN7psi-mi:“MI:0915”(physical association)0.670
SEPTIN11SEPTIN6psi-mi:“MI:0914”(association)0.640
RALBP1JUNpsi-mi:“MI:0914”(association)0.640
IGF1RPIK3R2psi-mi:“MI:2364”(proximity)0.590
SEPTIN10SEPTIN7psi-mi:“MI:0915”(physical association)0.560
SEPTIN7SEPTIN10psi-mi:“MI:0915”(physical association)0.560
CDC42EP4SEPTIN6psi-mi:“MI:0914”(association)0.530
SEPTIN10SEPTIN2psi-mi:“MI:0914”(association)0.530
SEPTIN7SEPTIN4psi-mi:“MI:0914”(association)0.530
GNAT3psi-mi:“MI:0915”(physical association)0.400
SEPTIN10LSM8psi-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 termPartnersFoldFDR
cytoskeleton-dependent cytokinesis10151.4×6e-18
intracellular protein localization1019.8×1e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

4 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance3
Likely benign0
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2565 predictions. Top by Δscore:

VariantEffectΔscore
2:109546049:CTT:Cdonor_gain1.0000
2:109564535:C:CCacceptor_gain1.0000
2:109567809:GCTCA:Gdonor_loss1.0000
2:109567810:CTCAC:Cdonor_loss1.0000
2:109567811:TCACA:Tdonor_loss1.0000
2:109567812:CACAT:Cdonor_loss1.0000
2:109567813:A:ACdonor_gain1.0000
2:109567813:A:Cdonor_loss1.0000
2:109567814:C:CAdonor_gain1.0000
2:109567814:CATT:Cdonor_gain1.0000
2:109567972:TTTAC:Tacceptor_gain1.0000
2:109567973:TTAC:Tacceptor_gain1.0000
2:109567974:TACC:Tacceptor_loss1.0000
2:109567976:CC:Cacceptor_loss1.0000
2:109567980:T:Cacceptor_gain1.0000
2:109567980:T:TCacceptor_gain1.0000
2:109574569:T:Adonor_gain1.0000
2:109585121:CATA:Cdonor_loss1.0000
2:109585122:ATAC:Adonor_loss1.0000
2:109585123:TA:Tdonor_loss1.0000
2:109585125:C:Gdonor_loss1.0000
2:109585125:CCT:Cdonor_gain1.0000
2:109585125:CCTCT:Cdonor_gain1.0000
2:109585198:T:Adonor_gain1.0000
2:109585322:C:CCacceptor_gain1.0000
2:109593049:A:ACdonor_gain1.0000
2:109593050:C:CCdonor_gain1.0000
2:109593050:CTAT:Cdonor_gain1.0000
2:109593120:C:CCacceptor_gain1.0000
2:109546048:A:ACdonor_gain0.9900

AlphaMissense

3056 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
2:109564465:A:GL310P0.999
2:109565778:A:GW282R0.998
2:109565778:A:TW282R0.998
2:109565840:A:TV261D0.998
2:109564501:A:GL298P0.997
2:109574656:A:CC175W0.997
2:109574658:A:GC175R0.997
2:109564498:C:GR299P0.996
2:109565789:C:GR278P0.996
2:109565790:G:TR278S0.996
2:109565843:G:TA260D0.996
2:109567966:A:TI204K0.996
2:109567971:G:CN202K0.996
2:109567971:G:TN202K0.996
2:109585321:C:TG73E0.996
2:109585721:C:AG73W0.996
2:109585729:A:GL70P0.996
2:109565849:G:TP258Q0.995
2:109567954:G:TA208D0.995
2:109574670:G:TR171S0.995
2:109585294:A:GL82P0.995
2:109585721:C:GG73R0.995
2:109585721:C:TG73R0.995
2:109564426:C:GR323T0.994
2:109564489:A:GL302P0.994
2:109574591:A:GL197P0.994
2:109585177:A:GL121S0.994
2:109585321:C:AG73V0.994
2:109564515:A:CC293W0.993
2:109564517:A:GC293R0.993

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):

StudyTraitp-value
GCST003048_108Schizophrenia5.000000e-08
GCST012490_96Femur bone mineral density x serum urate levels interaction4.000000e-10

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0004531urate 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.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects expression, decreases expression, increases methylation4
trichostatin Aaffects cotreatment, decreases expression2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, decreases expression2
Aflatoxin B1decreases methylation, increases expression, increases methylation2
aristolochic acid Idecreases expression1
FR900359affects phosphorylation1
2,4,6-tribromophenoldecreases expression1
bisphenol Adecreases expression1
decabromobiphenyl etherdecreases expression1
arseniteaffects binding, decreases reaction1
sodium arsenitedecreases expression, increases abundance1
tetrabromobisphenol Adecreases expression1
ciglitazoneaffects binding, increases expression1
2-palmitoylglycerolincreases expression1
K 7174increases expression1
fenpyroximateincreases expression1
pyrimidifenincreases expression1
nutlin 3affects cotreatment, increases secretion1
abrinedecreases expression1
2,2’,4,4’-tetrabromodiphenyl etherdecreases expression1
dorsomorphinaffects cotreatment, decreases expression1
pentabrominated diphenyl ether 100decreases expression1
LDN 193189affects cotreatment, decreases expression1
Air Pollutantsdecreases expression, increases abundance1
Arsenicdecreases expression, increases abundance1
Cuprizoneincreases expression1
Dactinomycinaffects cotreatment, increases secretion1
Ivermectindecreases expression1
Potassium Dichromateincreases expression1
Silicon Dioxidedecreases expression1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.