SAXO4

Summary

SAXO4 (stabilizer of axonemal microtubules 4, HGNC:28869) is a protein-coding gene on chromosome 11q12.2, encoding Stabilizer of axonemal microtubules 4 (Q7Z5V6).

Enables phosphatase binding activity. Predicted to be involved in flagellated sperm motility. Located in ciliary basal body.

Source: NCBI Gene 220004 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 96 total
• MANE Select transcript: NM_145017

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28869
Approved symbol	SAXO4
Name	stabilizer of axonemal microtubules 4
Location	11q12.2
Locus type	gene with protein product
Status	Approved
Aliases	IIIG9, FLJ32771
Ensembl gene	ENSG00000162148
Ensembl biotype	protein_coding
OMIM	619047
Entrez	220004

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 7 protein_coding

ENST00000338608, ENST00000366212, ENST00000432063, ENST00000535545, ENST00000538185, ENST00000542951, ENST00000897837

RefSeq mRNA: 2 — MANE Select: NM_145017 NM_001170753, NM_145017

CCDS: CCDS53641, CCDS8008

Canonical transcript exons

ENST00000338608 — 14 exons

Exon	Start	End
ENSE00001119014	61486524	61486610
ENSE00001119016	61485799	61485911
ENSE00001119017	61487146	61487240
ENSE00001119019	61490501	61490584
ENSE00001119022	61486948	61487061
ENSE00001119025	61486344	61486403
ENSE00001232976	61481120	61481216
ENSE00002248830	61490814	61490928
ENSE00003493494	61485338	61485401
ENSE00003516731	61489782	61489946
ENSE00003581152	61482655	61482808
ENSE00003604512	61482311	61482428
ENSE00003638512	61481782	61481918
ENSE00003687584	61484688	61484816

Expression profiles

Bgee: expression breadth ubiquitous, 167 present calls, max score 98.50.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.8437 / max 328.3899, expressed in 140 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
114584	0.6051	121
114582	0.2117	55
114585	0.0188	10
114583	0.0081	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	98.50	gold quality
left testis	UBERON:0004533	96.53	gold quality
right testis	UBERON:0004534	96.49	gold quality
testis	UBERON:0000473	92.49	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	90.16	gold quality
pancreatic ductal cell	CL:0002079	89.66	silver quality
adenohypophysis	UBERON:0002196	86.35	gold quality
endocervix	UBERON:0000458	85.06	gold quality
granulocyte	CL:0000094	84.69	gold quality
right lung	UBERON:0002167	84.66	gold quality
tibial nerve	UBERON:0001323	84.38	gold quality
caudate nucleus	UBERON:0001873	84.06	gold quality
pituitary gland	UBERON:0000007	83.88	gold quality
right hemisphere of cerebellum	UBERON:0014890	83.45	gold quality
nucleus accumbens	UBERON:0001882	83.39	gold quality
mucosa of stomach	UBERON:0001199	83.27	gold quality
bronchial epithelial cell	CL:0002328	83.20	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.97	gold quality
cerebellar hemisphere	UBERON:0002245	82.57	gold quality
cerebellar cortex	UBERON:0002129	82.40	gold quality
right frontal lobe	UBERON:0002810	82.25	gold quality
tibial artery	UBERON:0007610	82.24	gold quality
popliteal artery	UBERON:0002250	82.23	gold quality
body of uterus	UBERON:0009853	81.91	gold quality
Brodmann (1909) area 9	UBERON:0013540	81.71	gold quality
hypothalamus	UBERON:0001898	81.63	gold quality
right coronary artery	UBERON:0001625	81.62	gold quality
right ovary	UBERON:0002118	81.52	gold quality
left ovary	UBERON:0002119	81.52	gold quality
bronchus	UBERON:0002185	81.50	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.02

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

1 targeting SAXO4, 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-637	97.91	64.05	1517

Literature-anchored findings (GeneRIF, showing 1)

• Is IIIG9 a New Protein with Exclusive Ciliary Function? Analysis of Its Potential Role in Cancer and Other Pathologies. (PMID:36291193)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Saxo4	ENSMUSG00000035179
rattus_norvegicus	Saxo4	ENSRNOG00000020620

Protein

Protein identifiers

Stabilizer of axonemal microtubules 4 — Q7Z5V6 (reviewed: Q7Z5V6)

Alternative names: Protein phosphatase 1 regulatory subunit 32

All UniProt accessions (6): Q7Z5V6, F5GZJ9, F5H272, G3F4G3, H0YF82, H0YFZ1

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Microtubule inner protein component of sperm flagellar doublet microtubules. Interacts with PPP1CA.

Subcellular location. Cell projection. Cilium. Cytoplasm. Cytoskeleton. Flagellum axoneme.

Isoforms (2)

UniProt ID	Names	Canonical?
Q7Z5V6-1	1	yes
Q7Z5V6-2	2

RefSeq proteins (2): NP_001164224, NP_659454* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031410	SAXO4	Family

Pfam: PF15691

UniProt features (9 total): region of interest 3, sequence variant 2, chain 1, compositionally biased region 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z5V6-F1	55.98	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 54 (showing top): GOCC_MICROTUBULE_ORGANIZING_CENTER, GATA6_01, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, CYTAGCAAY_UNKNOWN, NIKOLSKY_BREAST_CANCER_11Q12_Q14_AMPLICON, WHN_B, GOCC_CYTOPLASMIC_REGION, GOCC_MOTILE_CILIUM, RFX1_01, GOCC_CYTOPLASMIC_MICROTUBULE, GOCC_CILIUM, GOCC_CILIARY_BASAL_BODY, GOMF_PHOSPHATASE_BINDING, LIU_LIVER_CANCER

GO Biological Process (1): flagellated sperm motility (GO:0030317)

GO Molecular Function (2): phosphatase binding (GO:0019902), protein binding (GO:0005515)

GO Cellular Component (8): cytoplasm (GO:0005737), ciliary basal body (GO:0036064), sperm flagellum (GO:0036126), axonemal A tubule inner sheath (GO:0160111), cytoskeleton (GO:0005856), cilium (GO:0005929), motile cilium (GO:0031514), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cilium	2
cilium-dependent cell motility	1
cilium movement involved in cell motility	1
sperm motility	1
enzyme binding	1
binding	1
intracellular anatomical structure	1
microtubule organizing center	1
9+2 motile cilium	1
A axonemal microtubule	1
axonemal microtubule doublet inner sheath	1
intracellular membraneless organelle	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

556 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SAXO4	CCDC181	Q5TID7	574
SAXO4	C7orf57	Q8NEG2	456
SAXO4	FAM222A	Q5U5X8	456
SAXO4	MYRF	Q9Y2G1	435
SAXO4	CLDND2	Q8NHS1	430
SAXO4	UQCC6	Q69YU5	419
SAXO4	ANKRD39	Q53RE8	415
SAXO4	TMEM98	Q9Y2Y6	415
SAXO4	DUSP15	Q9H1R2	403
SAXO4	AARD	Q4LEZ3	392
SAXO4	DHRS13	Q6UX07	378
SAXO4	SCNM1	Q9BWG6	373
SAXO4	RIPOR1	Q6ZS17	366
SAXO4	PRSS56	P0CW18	362
SAXO4	NKAIN4	Q8IVV8	358

IntAct

15 interactions, top by confidence:

A	B	Type	Score
PPP1CA	SAXO4	psi-mi:“MI:0915”(physical association)	0.660
SAXO4	PPP1CA	psi-mi:“MI:0407”(direct interaction)	0.660
SAXO4	PPP1CA	psi-mi:“MI:0915”(physical association)	0.660
CFTR	SAXO4	psi-mi:“MI:0915”(physical association)	0.510
SAXO4	PPP1CC	psi-mi:“MI:0915”(physical association)	0.510
PPP1CC	SAXO4	psi-mi:“MI:0915”(physical association)	0.510
	SAXO4	psi-mi:“MI:0407”(direct interaction)	0.440
SAXO4	RPL21	psi-mi:“MI:0915”(physical association)	0.400
SAXO4	PPP1CC	psi-mi:“MI:0915”(physical association)	0.370
SAXO4	IDE	psi-mi:“MI:0914”(association)	0.350

BioGRID (84): UBR1 (Affinity Capture-MS), IDE (Affinity Capture-MS), PPP1R32 (Affinity Capture-MS), PPP1R32 (Two-hybrid), PPP1R32 (Two-hybrid), PPP1R32 (Two-hybrid), PPP1R32 (Two-hybrid), PPP1R32 (Two-hybrid), PPP1R32 (Two-hybrid), PPP1R32 (Two-hybrid), PPP1R32 (Two-hybrid), PPP1R32 (Two-hybrid), PPP1R32 (Two-hybrid), PPP1R32 (Two-hybrid), PPP1R32 (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

Diamond homologs: Q148A4, Q2T9T0, Q66HR9, Q7Z5V6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	72
Likely benign	6
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1699 predictions. Top by Δscore:

Variant	Effect	Δscore
11:61481213:A:T	donor_gain	1.0000
11:61481216:GGTG:G	donor_loss	1.0000
11:61481917:CGGTG:C	donor_loss	1.0000
11:61482425:GGGG:G	donor_gain	1.0000
11:61482426:GGGG:G	donor_gain	1.0000
11:61484683:CCCAG:C	acceptor_loss	1.0000
11:61484684:CCA:C	acceptor_loss	1.0000
11:61484685:CAG:C	acceptor_loss	1.0000
11:61484686:A:AG	acceptor_gain	1.0000
11:61484686:A:AT	acceptor_loss	1.0000
11:61484687:G:GG	acceptor_gain	1.0000
11:61484687:GGTCC:G	acceptor_gain	1.0000
11:61484754:G:T	donor_gain	1.0000
11:61484812:GACAT:G	donor_gain	1.0000
11:61484813:ACAT:A	donor_gain	1.0000
11:61484814:CAT:C	donor_gain	1.0000
11:61484815:AT:A	donor_gain	1.0000
11:61484816:TGTG:T	donor_loss	1.0000
11:61484817:G:GG	donor_gain	1.0000
11:61484818:T:A	donor_loss	1.0000
11:61485912:G:GG	donor_gain	1.0000
11:61487058:AAAGG:A	donor_loss	1.0000
11:61487059:AAGG:A	donor_loss	1.0000
11:61487060:AGGTG:A	donor_loss	1.0000
11:61487062:G:GA	donor_loss	1.0000
11:61487063:T:A	donor_loss	1.0000
11:61487239:GG:G	donor_gain	1.0000
11:61487240:GG:G	donor_gain	1.0000
11:61487298:GGA:G	donor_gain	1.0000
11:61481212:G:GT	donor_gain	0.9900

AlphaMissense

2789 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:61481888:T:C	F27L	0.966
11:61481890:C:A	F27L	0.966
11:61481890:C:G	F27L	0.966
11:61481858:A:C	S17R	0.962
11:61481860:T:A	S17R	0.962
11:61481860:T:G	S17R	0.962
11:61487158:T:C	F321L	0.949
11:61487160:C:A	F321L	0.949
11:61487160:C:G	F321L	0.949
11:61484703:T:C	F133L	0.941
11:61484705:C:A	F133L	0.941
11:61484705:C:G	F133L	0.941
11:61482322:T:C	F41L	0.933
11:61482324:C:A	F41L	0.933
11:61482324:C:G	F41L	0.933
11:61486380:T:C	F242L	0.897
11:61486382:C:A	F242L	0.897
11:61486382:C:G	F242L	0.897
11:61486575:T:C	F267L	0.897
11:61486577:C:A	F267L	0.897
11:61486577:C:G	F267L	0.897
11:61481900:A:C	S31R	0.875
11:61481902:C:A	S31R	0.875
11:61481902:C:G	S31R	0.875
11:61484704:T:C	F133S	0.873
11:61487161:A:C	S322R	0.873
11:61487163:C:A	S322R	0.873
11:61487163:C:G	S322R	0.873
11:61487155:G:T	G320W	0.870
11:61487156:G:A	G320E	0.861

dbSNP variants (sampled 300 via entrez): RS1000309697 (11:61490746 G>T), RS1000361863 (11:61481077 C>G), RS1000680148 (11:61486969 C>T), RS1000755725 (11:61483719 A>G), RS1000819875 (11:61485051 C>T), RS1000959805 (11:61484199 T>C), RS1001394750 (11:61485000 T>C), RS1001522537 (11:61490335 A>C,G), RS1001748173 (11:61490159 C>T), RS1001866791 (11:61486843 G>A), RS1001921859 (11:61480726 C>G), RS1001953105 (11:61483216 G>T), RS1002292471 (11:61489279 G>A), RS1002480787 (11:61481003 G>A), RS1002608961 (11:61491189 T>G)

Disease associations

OMIM: gene MIM:619047 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST009307_8	Spatial memory	2.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004874	memory performance

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

14 total (human), top 14 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	2
FR900359	increases phosphorylation	1
ferrous chloride	increases expression	1
licochalcone B	increases expression	1
jinfukang	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Silicon Dioxide	decreases expression	1
Smoke	increases abundance, increases expression	1
Tetrachlorodibenzodioxin	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation	1
Okadaic Acid	decreases expression	1
Acrylamide	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_TF77	HAP1 PPP1R32 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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