SAXO2

Summary

SAXO2 (stabilizer of axonemal microtubules 2, HGNC:33727) is a protein-coding gene on chromosome 15q25.2, encoding Stabilizer of axonemal microtubules 2 (Q658L1).

Predicted to enable microtubule binding activity. Predicted to be active in microtubule cytoskeleton; nucleus; and sperm flagellum.

Source: NCBI Gene 283726 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 78 total
• MANE Select transcript: NM_001348699

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33727
Approved symbol	SAXO2
Name	stabilizer of axonemal microtubules 2
Location	15q25.2
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp666G057
Ensembl gene	ENSG00000188659
Ensembl biotype	protein_coding
Entrez	283726

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 6 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000339465, ENST00000562097, ENST00000565006, ENST00000565432, ENST00000565501, ENST00000566205, ENST00000566861, ENST00000569120, ENST00000682753

RefSeq mRNA: 8 — MANE Select: NM_001348699 NM_001008226, NM_001348699, NM_001348700, NM_001348701, NM_001348702, NM_001348703, NM_001348705, NM_001348706

CCDS: CCDS32310, CCDS92049

Canonical transcript exons

ENST00000682753 — 4 exons

Exon	Start	End
ENSE00003519165	82271603	82271802
ENSE00003917939	82262818	82262932
ENSE00003918904	82282119	82284927
ENSE00003919922	82265569	82265748

Expression profiles

Bgee: expression breadth ubiquitous, 171 present calls, max score 99.05.

FANTOM5 (CAGE): breadth broad, TPM avg 1.2544 / max 78.4870, expressed in 575 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
148096	0.8724	457
148097	0.3558	161
148098	0.0263	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	99.05	gold quality
bronchial epithelial cell	CL:0002328	97.88	gold quality
bronchus	UBERON:0002185	96.61	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	96.33	gold quality
oviduct epithelium	UBERON:0004804	94.19	gold quality
mucosa of paranasal sinus	UBERON:0005030	92.44	gold quality
right testis	UBERON:0004534	90.70	gold quality
left testis	UBERON:0004533	90.53	gold quality
fallopian tube	UBERON:0003889	89.65	gold quality
testis	UBERON:0000473	87.36	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.35	gold quality
epithelium of nasopharynx	UBERON:0001951	85.88	gold quality
adenohypophysis	UBERON:0002196	84.46	gold quality
pituitary gland	UBERON:0000007	82.85	gold quality
right lung	UBERON:0002167	81.80	gold quality
right lobe of thyroid gland	UBERON:0001119	81.76	gold quality
left lobe of thyroid gland	UBERON:0001120	80.54	gold quality
endocervix	UBERON:0000458	79.56	gold quality
thyroid gland	UBERON:0002046	79.41	gold quality
apex of heart	UBERON:0002098	78.03	gold quality
metanephros cortex	UBERON:0010533	77.55	gold quality
body of uterus	UBERON:0009853	76.85	gold quality
right hemisphere of cerebellum	UBERON:0014890	76.85	gold quality
cerebellar hemisphere	UBERON:0002245	76.31	gold quality
cerebellar cortex	UBERON:0002129	76.14	gold quality
upper lobe of left lung	UBERON:0008952	75.54	gold quality
body of stomach	UBERON:0001161	75.27	gold quality
nasal cavity mucosa	UBERON:0001826	74.99	gold quality
mucosa of stomach	UBERON:0001199	74.98	gold quality
muscle layer of sigmoid colon	UBERON:0035805	74.93	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	63.89
E-GEOD-81383	yes	27.32
E-GEOD-130148	yes	13.24
E-ANND-3	yes	9.15

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

84 targeting SAXO2, 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-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-4503	99.85	71.45	1869
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-636	99.80	69.58	1500
HSA-MIR-4713-5P	99.78	67.80	1794
HSA-MIR-2116-3P	99.74	64.32	889

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	saxo2	ENSDARG00000006474
mus_musculus	Saxo2	ENSMUSG00000038570
rattus_norvegicus	Saxo2	ENSRNOG00000026296
drosophila_melanogaster	CG7131	FBGN0038598
caenorhabditis_elegans		WBGENE00010357
caenorhabditis_elegans	T08G11.3	WBGENE00011630
caenorhabditis_elegans		WBGENE00044142

Paralogs (1): SAXO1 (ENSG00000155875)

Protein

Protein identifiers

Stabilizer of axonemal microtubules 2 — Q658L1 (reviewed: Q658L1)

All UniProt accessions (6): A0A804HKW2, Q658L1, H3BMC1, H3BP55, H3BQV6, H3BVD4

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the FAM154 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q658L1-1	1	yes
Q658L1-2	2

RefSeq proteins (8): NP_001008227, NP_001335628, NP_001335629, NP_001335630, NP_001335631, NP_001335632, NP_001335634, NP_001335635 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR033336	SAXO1/2	Family

Pfam: PF05217

UniProt features (11 total): region of interest 6, sequence variant 3, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q658L1-F1	70.49	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 77 (showing top): IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOCC_MICROTUBULE_ORGANIZING_CENTER, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOCC_CENTRIOLE, GOCC_CYTOPLASMIC_REGION, GOCC_MOTILE_CILIUM, MARSON_BOUND_BY_FOXP3_STIMULATED, GOCC_CYTOPLASMIC_MICROTUBULE, GOCC_CILIUM, GOCC_CILIARY_BASAL_BODY, GOMF_CYTOSKELETAL_PROTEIN_BINDING, DODD_NASOPHARYNGEAL_CARCINOMA_DN, GOCC_AXONEMAL_MICROTUBULE, GOCC_9PLUS2_MOTILE_CILIUM, GOCC_SUPRAMOLECULAR_COMPLEX

GO Biological Process (0):

GO Molecular Function (2): microtubule binding (GO:0008017), protein binding (GO:0005515)

GO Cellular Component (6): centriole (GO:0005814), cytoskeleton (GO:0005856), axonemal microtubule (GO:0005879), ciliary basal body (GO:0036064), sperm flagellum (GO:0036126), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
microtubule organizing center	2
intracellular membraneless organelle	2
tubulin binding	1
binding	1
cytoplasmic microtubule	1
axoneme	1
cilium	1
9+2 motile cilium	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1001 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SAXO2	BEX5	Q5H9J7	579
SAXO2	RPAP1	Q9BWH6	475
SAXO2	KLHL26	Q53HC5	466
SAXO2	CNKSR3	Q6P9H4	457
SAXO2	BPIFB3	P59826	453
SAXO2	CIMAP1D	Q3SX64	447
SAXO2	ACSM4	P0C7M7	437
SAXO2	RSPH14	Q9UHP6	435
SAXO2	LEFTY1	O75610	434
SAXO2	CFAP52	Q8N1V2	434
SAXO2	TSNAXIP1	Q2TAA8	432
SAXO2	MAP6D1	Q9H9H5	429
SAXO2	ZSWIM2	Q8NEG5	425
SAXO2	CCDC146	Q8IYE0	422
SAXO2	LRRC46	Q96FV0	413

IntAct

7 interactions, top by confidence:

A	B	Type	Score
FHL2	SAXO2	psi-mi:“MI:0915”(physical association)	0.560
SAXO2	FBXO17	psi-mi:“MI:0915”(physical association)	0.560
FBXO17	SAXO2	psi-mi:“MI:0915”(physical association)	0.000
FHL2	SAXO2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (2): FAM154B (Two-hybrid), FBXO17 (Two-hybrid)

ESM2 similar proteins: A1A5R9, A2RSX4, A5WUY6, A6QQ60, A8MTA8, A8MYP8, B1AR13, H3BNL1, O94888, P21580, P54277, Q08BC4, Q13542, Q14161, Q14CM0, Q2TBS4, Q3KQ80, Q3UGM2, Q4KLY8, Q4R8V9, Q4R8W3, Q5BK20, Q5M8M2, Q5RDJ2, Q5RDU9, Q5REY7, Q5TH74, Q5ZLS2, Q60769, Q658L1, Q6IE70, Q6KAU4, Q6P5G6, Q6PGH2, Q6ZWH5, Q8BGF7, Q8BQB6, Q8C8J0, Q8IWR0, Q8K2D3

Diamond homologs: Q4R7D3, Q658L1, Q6AYP6, Q8BQB6, Q8IYX7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	67
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

925 predictions. Top by Δscore:

Variant	Effect	Δscore
15:82265729:G:GT	donor_gain	1.0000
15:82265733:G:GT	donor_gain	1.0000
15:82265745:T:G	donor_gain	1.0000
15:82265745:T:TG	donor_gain	1.0000
15:82265749:G:GG	donor_gain	1.0000
15:82268942:T:A	acceptor_gain	1.0000
15:82282109:A:AG	acceptor_gain	1.0000
15:82265734:A:T	donor_gain	0.9900
15:82282116:A:AG	acceptor_gain	0.9900
15:82282116:AAGAC:A	acceptor_gain	0.9900
15:82282117:A:G	acceptor_gain	0.9900
15:82265729:G:T	donor_gain	0.9800
15:82265730:A:T	donor_gain	0.9800
15:82265764:C:G	donor_gain	0.9800
15:82271773:G:GT	donor_gain	0.9800
15:82271774:A:T	donor_gain	0.9800
15:82271798:TAAAG:T	donor_loss	0.9800
15:82271799:AAAGG:A	donor_loss	0.9800
15:82271800:AAGGT:A	donor_loss	0.9800
15:82271801:AGG:A	donor_loss	0.9800
15:82271802:GGTAA:G	donor_loss	0.9800
15:82271803:GTA:G	donor_loss	0.9800
15:82271804:T:A	donor_loss	0.9800
15:82282110:A:G	acceptor_gain	0.9800
15:82265566:C:G	acceptor_gain	0.9700
15:82271600:CA:C	acceptor_loss	0.9700
15:82271601:A:AC	acceptor_loss	0.9700
15:82271602:G:GA	acceptor_loss	0.9700
15:82282118:G:GG	acceptor_gain	0.9700
15:82282118:GAC:G	acceptor_gain	0.9700

AlphaMissense

3057 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:82282427:T:C	F188L	0.947
15:82282429:T:A	F188L	0.947
15:82282429:T:G	F188L	0.947
15:82282814:A:C	S317R	0.942
15:82282816:C:A	S317R	0.942
15:82282816:C:G	S317R	0.942
15:82282529:T:C	F222L	0.923
15:82282531:T:A	F222L	0.923
15:82282531:T:G	F222L	0.923
15:82282712:A:C	S283R	0.918
15:82282714:C:A	S283R	0.918
15:82282714:C:G	S283R	0.918
15:82282517:T:C	F218L	0.909
15:82282519:C:A	F218L	0.909
15:82282519:C:G	F218L	0.909
15:82282730:T:C	F289L	0.897
15:82282732:T:A	F289L	0.897
15:82282732:T:G	F289L	0.897
15:82283027:T:C	F388L	0.892
15:82283029:C:A	F388L	0.892
15:82283029:C:G	F388L	0.892
15:82282196:T:C	F111L	0.891
15:82282198:T:A	F111L	0.891
15:82282198:T:G	F111L	0.891
15:82282610:A:C	S249R	0.887
15:82282612:C:A	S249R	0.887
15:82282612:C:G	S249R	0.887
15:82282802:T:C	F313L	0.852
15:82282804:T:A	F313L	0.852
15:82282804:T:G	F313L	0.852

dbSNP variants (sampled 300 via entrez): RS1000022697 (15:82271137 A>G), RS1000113023 (15:82268174 AT>A), RS1000227961 (15:82267864 C>G), RS1000241321 (15:82275797 A>G), RS1000398392 (15:82275250 A>G), RS1000417746 (15:82282603 G>A), RS1000472956 (15:82262058 A>G), RS1000799907 (15:82273452 C>T), RS1001077250 (15:82263247 T>A,C), RS1001272205 (15:82261450 G>A,T), RS1001411404 (15:82267730 G>A), RS1001442575 (15:82267357 T>G), RS1001471852 (15:82267017 A>G), RS1001649119 (15:82281505 T>C), RS1001680145 (15:82281889 A>C)

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

4 associations (top):

Study	Trait	p-value
GCST003901_10	Cognitive decline (age-related)	2.000000e-06
GCST006269_1170	General cognitive ability	3.000000e-08
GCST006947_19	Feeling fed-up	4.000000e-09
GCST007277_21	Tourette syndrome	7.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004337	intelligence
EFO:0009588	feeling “fed-up” measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
S-(1,2-dichlorovinyl)cysteine	increases expression, decreases expression, decreases reaction	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Lipopolysaccharides	decreases expression, decreases reaction	1
Smoke	increases abundance, increases expression	1
Sodium Dodecyl Sulfate	increases expression	1
Thimerosal	increases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Okadaic Acid	increases expression	1
Acrylamide	increases expression	1

Clinical trials (associated diseases)

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