SAXO3

Summary

SAXO3 (stabilizer of axonemal microtubules 3, HGNC:56771) is a protein-coding gene on chromosome 19q13.33, encoding Stabilizer of axonemal microtubules 3 (A0A1B0GTJ6).

At a glance

• MANE Select transcript: NM_001396011

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:56771
Approved symbol	SAXO3
Name	stabilizer of axonemal microtubules 3
Location	19q13.33
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000268655
Ensembl biotype	protein_coding
Entrez	101059948

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding_CDS_not_defined, 1 protein_coding

ENST00000600007, ENST00000637680

RefSeq mRNA: 1 — MANE Select: NM_001396011 NM_001396011

CCDS: CCDS92661

Canonical transcript exons

ENST00000637680 — 5 exons

Exon	Start	End
ENSE00003791811	49019647	49019808
ENSE00003793326	49018873	49019000
ENSE00003800588	49019909	49020109
ENSE00003978322	49020375	49020549
ENSE00004472042	49017968	49018340

Expression profiles

Bgee: expression breadth ubiquitous, 133 present calls, max score 70.76.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	70.76	gold quality
right testis	UBERON:0004534	66.09	gold quality
left testis	UBERON:0004533	65.46	gold quality
stromal cell of endometrium	CL:0002255	64.54	gold quality
testis	UBERON:0000473	62.94	gold quality
granulocyte	CL:0000094	62.65	gold quality
lower esophagus mucosa	UBERON:0035834	58.22	gold quality
body of stomach	UBERON:0001161	57.91	gold quality
pancreas	UBERON:0001264	57.24	gold quality
adenohypophysis	UBERON:0002196	56.89	gold quality
adrenal tissue	UBERON:0018303	56.70	gold quality
pituitary gland	UBERON:0000007	55.78	gold quality
superficial temporal artery	UBERON:0001614	55.41	gold quality
stomach	UBERON:0000945	54.31	gold quality
left adrenal gland	UBERON:0001234	53.52	gold quality
bone marrow cell	CL:0002092	53.41	gold quality
right uterine tube	UBERON:0001302	53.26	gold quality
heart right ventricle	UBERON:0002080	52.83	gold quality
Brodmann (1909) area 46	UBERON:0006483	52.66	gold quality
mucosa of sigmoid colon	UBERON:0004993	52.57	gold quality
left adrenal gland cortex	UBERON:0035825	52.48	gold quality
right adrenal gland	UBERON:0001233	52.44	gold quality
right adrenal gland cortex	UBERON:0035827	52.23	gold quality
adrenal gland	UBERON:0002369	52.22	gold quality
metanephros cortex	UBERON:0010533	51.89	gold quality
adrenal cortex	UBERON:0001235	51.57	gold quality
nasal cavity epithelium	UBERON:0005384	51.20	gold quality
fundus of stomach	UBERON:0001160	50.87	gold quality
small intestine Peyer’s patch	UBERON:0003454	50.52	gold quality
small intestine	UBERON:0002108	50.46	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.96

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Lhb	ENSMUSG00000118462
rattus_norvegicus	Lhb	ENSRNOG00000047040

Protein

Protein identifiers

Stabilizer of axonemal microtubules 3 — A0A1B0GTJ6 (reviewed: A0A1B0GTJ6)

All UniProt accessions (1): A0A1B0GTJ6

RefSeq proteins (1): NP_001382940* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR053347	SAXO3	Family

UniProt features (6 total): region of interest 3, compositionally biased region 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GTJ6-F1	52.05	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 7 (showing top): RBM34_TARGET_GENES, SKIL_TARGET_GENES, ZNF791_TARGET_GENES, ZNF157_TARGET_GENES, NCOA4_TARGET_GENES, ZSCAN4_TARGET_GENES, chr19q13

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

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

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

2125 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:49018953:G:C	F184L	0.901
19:49018953:G:T	F184L	0.901
19:49018955:A:G	F184L	0.901
19:49018091:G:C	F294L	0.891
19:49018091:G:T	F294L	0.891
19:49018093:A:G	F294L	0.891
19:49020050:G:C	F67L	0.888
19:49020050:G:T	F67L	0.888
19:49020052:A:G	F67L	0.888
19:49018887:A:C	F206L	0.880
19:49018887:A:T	F206L	0.880
19:49018889:A:G	F206L	0.880
19:49019924:C:A	K109N	0.867
19:49019924:C:G	K109N	0.867
19:49019758:G:C	S131R	0.854
19:49019758:G:T	S131R	0.854
19:49019760:T:G	S131R	0.854
19:49019996:C:A	K85N	0.823
19:49019996:C:G	K85N	0.823
19:49018906:G:A	T200I	0.795
19:49019909:C:A	K114N	0.782
19:49019909:C:G	K114N	0.782
19:49019741:T:G	Y137S	0.765
19:49020029:C:A	W74C	0.765
19:49020029:C:G	W74C	0.765
19:49018881:G:C	F208L	0.751
19:49018881:G:T	F208L	0.751
19:49018883:A:G	F208L	0.751
19:49020432:G:C	S28R	0.739
19:49020432:G:T	S28R	0.739

dbSNP variants (sampled 300 via entrez): RS1000208272 (19:49019680 T>C), RS1000577681 (19:49018504 C>T), RS1001426468 (19:49021839 G>A,C), RS1001459014 (19:49022073 C>G), RS1002657335 (19:49017706 A>T), RS1003134259 (19:49021200 C>A,T), RS1003435177 (19:49019989 C>G), RS1003465366 (19:49020196 C>T), RS1005107375 (19:49018971 C>G,T), RS1005138525 (19:49019159 C>T), RS1005309735 (19:49022337 C>A,T), RS1005458676 (19:49018077 G>T), RS1005491183 (19:49018233 G>A,C,T), RS1006951803 (19:49021268 C>A,T), RS1007165434 (19:49017489 TC>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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

Clinical trials (associated diseases)

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