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Atlas / Gene / SAXO5

SAXO5

gene
On this page

Also known as FLJ35784

Summary

SAXO5 (stabilizer of axonemal microtubules 5, HGNC:24745) is a protein-coding gene on chromosome 19p13.2, encoding Stabilizer of axonemal microtubules 5 (Q8NA69).

At a glance

  • GWAS associations: 20
  • Clinical variants (ClinVar): 14 total
  • MANE Select transcript: NM_198534

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:24745
Approved symbolSAXO5
Namestabilizer of axonemal microtubules 5
Location19p13.2
Locus typegene with protein product
StatusApproved
AliasesFLJ35784
Ensembl geneENSG00000198723
Ensembl biotypeprotein_coding
Entrez374877

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 4 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000361664, ENST00000596132, ENST00000596524, ENST00000597207, ENST00000600112, ENST00000601176, ENST00000601292

RefSeq mRNA: 1 — MANE Select: NM_198534 NM_198534

CCDS: CCDS12179

Canonical transcript exons

ENST00000361664 — 9 exons

ExonStartEnd
ENSE0000105320075070567507141
ENSE0000105321075059647506165
ENSE0000120266075082067508450
ENSE0000127039774975487497682
ENSE0000163557675041217504224
ENSE0000167382075053247505436
ENSE0000168899775043117504411
ENSE0000176241075055177505626
ENSE0000379467375008067501399

Expression profiles

Bgee: expression breadth ubiquitous, 154 present calls, max score 87.64.

FANTOM5 (CAGE): breadth broad, TPM avg 0.5775 / max 55.0324, expressed in 218 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter IDTPM avgSamples expressed
1735500.217893
1735490.085922
1735520.083226
1735510.062621
1735480.061119
1735460.02914
1735450.02523
1735470.01267

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
right testisUBERON:000453487.64gold quality
left testisUBERON:000453387.31gold quality
cardiac muscle of right atriumUBERON:000337987.11gold quality
left ventricle myocardiumUBERON:000656686.48gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047384.94gold quality
testisUBERON:000047384.68gold quality
spermCL:000001984.23silver quality
nasal cavity epitheliumUBERON:000538483.12gold quality
kidney epitheliumUBERON:000481981.95gold quality
pancreatic ductal cellCL:000207981.06silver quality
myocardiumUBERON:000234978.79gold quality
right adrenal glandUBERON:000123377.64gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099177.57gold quality
right adrenal gland cortexUBERON:003582777.25gold quality
left adrenal gland cortexUBERON:003582576.54gold quality
left adrenal glandUBERON:000123476.28gold quality
pituitary glandUBERON:000000775.67gold quality
adrenal cortexUBERON:000123575.54gold quality
parotid glandUBERON:000183175.31gold quality
adenohypophysisUBERON:000219673.98gold quality
adrenal glandUBERON:000236972.30gold quality
vastus lateralisUBERON:000137971.95gold quality
quadriceps femorisUBERON:000137771.87gold quality
adult organismUBERON:000702371.74silver quality
C1 segment of cervical spinal cordUBERON:000646969.78gold quality
substantia nigraUBERON:000203869.66gold quality
heart right ventricleUBERON:000208069.51gold quality
spinal cordUBERON:000224068.89gold quality
putamenUBERON:000187468.73gold quality
midbrainUBERON:000189168.58gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes3.36

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusSaxo5ENSMUSG00000040340
rattus_norvegicusSaxo5ENSRNOG00000000973

Protein

Protein identifiers

Stabilizer of axonemal microtubules 5 — Q8NA69 (reviewed: Q8NA69)

Alternative names: Testis-expressed protein 45

All UniProt accessions (5): Q8NA69, M0QY34, M0QYK1, M0R096, M0R0L7

UniProt curated annotations — full annotation on UniProt →

Tissue specificity. Highly expressed in testis.

RefSeq proteins (1): NP_940936* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR028001SAXO5Family

Pfam: PF15373

UniProt features (12 total): region of interest 5, sequence variant 5, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8NA69-F154.370.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 33 (showing top): chr19p13, ZWANG_DOWN_BY_2ND_EGF_PULSE, ATF6_TARGET_GENES, E2F5_TARGET_GENES, HES2_TARGET_GENES, HOXB4_TARGET_GENES, LMTK3_TARGET_GENES, MAFG_TARGET_GENES, RYBP_TARGET_GENES, SKIL_TARGET_GENES, ZFP91_TARGET_GENES, ZNF197_TARGET_GENES, ZNF22_TARGET_GENES, ZNF436_TARGET_GENES, ZNF592_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
binding1

Protein interactions and networks

STRING

170 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
SAXO5ZNF783Q6ZMS7480
SAXO5TRAPPC5Q8IUR0478
SAXO5PEX11GQ96HA9470
SAXO5MEDAGQ5VYS4451
SAXO5KPLCEQ5T750445
SAXO5PDAP1Q13442431
SAXO5BPIFB3P59826419
SAXO5GPATCH4Q5T3I0413
SAXO5B3GLCTQ6Y288393
SAXO5ZDHHC19Q8WVZ1377
SAXO5PHF7Q9BWX1353
SAXO5GPR171O14626328
SAXO5NAA25Q14CX7321
SAXO5SPMIP9Q96LM6321
SAXO5HELQQ8TDG4311

IntAct

18 interactions, top by confidence:

ABTypeScore
ARMC7SAXO5psi-mi:“MI:0915”(physical association)0.560
KRTAP6-3SAXO5psi-mi:“MI:0915”(physical association)0.560
CYSRT1SAXO5psi-mi:“MI:0915”(physical association)0.560
SAXO5NEK6psi-mi:“MI:0915”(physical association)0.560
SAXO5ARMC7psi-mi:“MI:0915”(physical association)0.560
SAXO5TEKT3psi-mi:“MI:0915”(physical association)0.560
SAXO5WDR47psi-mi:“MI:0914”(association)0.350
SAXO5KRTAP6-3psi-mi:“MI:0915”(physical association)0.000
SAXO5CYSRT1psi-mi:“MI:0915”(physical association)0.000
NEK6SAXO5psi-mi:“MI:0915”(physical association)0.000
TEKT3SAXO5psi-mi:“MI:0915”(physical association)0.000

BioGRID (29): WDR47 (Affinity Capture-MS), UBR3 (Affinity Capture-MS), ANKFY1 (Affinity Capture-MS), FAM83H (Affinity Capture-MS), CADPS2 (Affinity Capture-MS), BRCA2 (Affinity Capture-MS), LONP1 (Affinity Capture-MS), KLHL23 (Affinity Capture-MS), HSPA8 (Affinity Capture-MS), PTPRD (Affinity Capture-MS), TARBP1 (Affinity Capture-MS), PPP2R2D (Affinity Capture-MS), HAPLN3 (Affinity Capture-MS), FGFR1 (Affinity Capture-MS), C19orf45 (Two-hybrid)

ESM2 similar proteins: A0A1B0GTD5, A0A1B0GTJ6, A0A1B0GUX0, A0A3Q1MT14, A0JNL1, A5PJD8, B9EJX3, E1B9R1, E1BNS6, F1MMV1, Q0P591, Q148A4, Q14BB9, Q1JPL0, Q2KJ10, Q2MH31, Q2T9T0, Q2TA11, Q32L72, Q32L77, Q3V0Q6, Q5BN46, Q5PQN4, Q5RBH3, Q5RHU7, Q5SPV6, Q5SVJ3, Q5VTT2, Q5VZQ5, Q66HR9, Q6AYM0, Q7Z5V6, Q8CDU5, Q8N5S3, Q8N865, Q8NA69, Q8NCR6, Q8NEG2, Q95LU0, Q96K30

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance4
Likely benign0
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1503 predictions. Top by Δscore:

VariantEffectΔscore
19:7504408:A:Gdonor_gain1.0000
19:7505535:AC:Aacceptor_gain1.0000
19:7505536:C:CAacceptor_gain1.0000
19:7505623:CCAG:Cdonor_loss1.0000
19:7505624:CAG:Cdonor_loss1.0000
19:7505626:GGTG:Gdonor_loss1.0000
19:7505627:GT:Gdonor_loss1.0000
19:7507138:GCGG:Gdonor_gain1.0000
19:7497636:C:Gdonor_gain0.9900
19:7501397:TCGGT:Tdonor_loss0.9900
19:7501400:G:Adonor_loss0.9900
19:7501400:G:GGdonor_gain0.9900
19:7501402:G:GGdonor_loss0.9900
19:7504118:AAG:Aacceptor_gain0.9900
19:7504118:AAGG:Aacceptor_gain0.9900
19:7504118:AAGGG:Aacceptor_gain0.9900
19:7504305:CCACA:Cacceptor_loss0.9900
19:7504306:CACA:Cacceptor_loss0.9900
19:7504308:CA:Cacceptor_loss0.9900
19:7504309:A:AGacceptor_gain0.9900
19:7504310:G:GTacceptor_gain0.9900
19:7504380:GCC:Gdonor_gain0.9900
19:7504395:G:GTdonor_gain0.9900
19:7504407:GA:Gdonor_gain0.9900
19:7504407:GATAG:Gdonor_gain0.9900
19:7504408:A:AGdonor_gain0.9900
19:7505319:TACA:Tacceptor_loss0.9900
19:7505321:CA:Cacceptor_loss0.9900
19:7505323:G:GTacceptor_loss0.9900
19:7505375:T:TAacceptor_gain0.9900

AlphaMissense

3286 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
19:7504183:T:CF214L0.982
19:7504185:C:AF214L0.982
19:7504185:C:GF214L0.982
19:7501078:T:CF86L0.965
19:7501080:C:AF86L0.965
19:7501080:C:GF86L0.965
19:7500898:T:CF26L0.964
19:7500900:C:AF26L0.964
19:7500900:C:GF26L0.964
19:7501276:T:CF152L0.963
19:7501278:C:AF152L0.963
19:7501278:C:GF152L0.963
19:7506057:T:CF367L0.963
19:7506059:C:AF367L0.963
19:7506059:C:GF367L0.963
19:7508275:T:CF455L0.962
19:7508277:T:AF455L0.962
19:7508277:T:GF455L0.962
19:7500961:T:CF47L0.959
19:7500963:T:AF47L0.959
19:7500963:T:GF47L0.959
19:7501348:T:CF176L0.948
19:7501350:T:AF176L0.948
19:7501350:T:GF176L0.948
19:7505559:T:CI313T0.941
19:7500880:T:CF20L0.938
19:7500882:C:AF20L0.938
19:7500882:C:GF20L0.938
19:7505388:T:CF283L0.927
19:7505390:C:AF283L0.927

dbSNP variants (sampled 300 via entrez): RS1000103707 (19:7499189 G>A), RS1000485092 (19:7505908 C>A,G,T), RS1000545164 (19:7499960 G>A), RS1000638630 (19:7500332 C>T), RS1000836036 (19:7505553 C>G,T), RS1000991271 (19:7503391 G>T), RS1001642006 (19:7498820 A>G), RS1002231743 (19:7508701 A>T), RS1002494632 (19:7503106 T>C), RS1002509839 (19:7497200 T>A), RS1003284031 (19:7507672 C>G), RS1003298717 (19:7507906 A>G), RS1003320903 (19:7507435 TAGTC>T), RS1003395696 (19:7501543 C>G,T), RS1003513619 (19:7496354 G>A,T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

20 associations (top):

StudyTraitp-value
GCST010796_3101Electrocardiogram morphology (amplitude at temporal datapoints)1.000000e-09
GCST010796_3102Electrocardiogram morphology (amplitude at temporal datapoints)8.000000e-11
GCST010796_3103Electrocardiogram morphology (amplitude at temporal datapoints)3.000000e-10
GCST010796_3104Electrocardiogram morphology (amplitude at temporal datapoints)3.000000e-09
GCST010796_3105Electrocardiogram morphology (amplitude at temporal datapoints)6.000000e-09
GCST010796_3106Electrocardiogram morphology (amplitude at temporal datapoints)4.000000e-08
GCST010796_3107Electrocardiogram morphology (amplitude at temporal datapoints)3.000000e-09
GCST010796_3108Electrocardiogram morphology (amplitude at temporal datapoints)2.000000e-09
GCST010796_3109Electrocardiogram morphology (amplitude at temporal datapoints)7.000000e-11
GCST010796_3110Electrocardiogram morphology (amplitude at temporal datapoints)2.000000e-08
GCST010796_3111Electrocardiogram morphology (amplitude at temporal datapoints)2.000000e-08
GCST010796_3112Electrocardiogram morphology (amplitude at temporal datapoints)8.000000e-09
GCST010796_3113Electrocardiogram morphology (amplitude at temporal datapoints)3.000000e-08
GCST010796_3744Electrocardiogram morphology (amplitude at temporal datapoints)2.000000e-13
GCST010796_3745Electrocardiogram morphology (amplitude at temporal datapoints)1.000000e-10
GCST010796_3746Electrocardiogram morphology (amplitude at temporal datapoints)2.000000e-10
GCST010796_3747Electrocardiogram morphology (amplitude at temporal datapoints)4.000000e-08
GCST010796_3748Electrocardiogram morphology (amplitude at temporal datapoints)3.000000e-10
GCST010796_3749Electrocardiogram morphology (amplitude at temporal datapoints)6.000000e-12
GCST010796_3750Electrocardiogram morphology (amplitude at temporal datapoints)1.000000e-08

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0004327electrocardiography

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

ChemicalActions (top 5)PubMed papers
sotorasibaffects cotreatment, decreases expression1
bisphenol Sincreases methylation1
trametinibaffects cotreatment, decreases expression1
NVP-BKM120affects cotreatment, decreases expression1
Benzo(a)pyreneaffects methylation1
Niclosamideincreases expression1
Phthalic Acidsincreases methylation1

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.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 74

This page pulls from 74 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot