Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	220004
Gene name	Stabilizer of axonemal microtubules 4
Gene symbol	SAXO4
Synonyms (NCBI Gene)	C11orf66IIIG9PPP1R32
Chromosome	11
Chromosome location	11q12.2

13 Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	19389623, 21382349, 32296183, 35156780
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0019902	Function	Phosphatase binding	IBA
GO:0019902	Function	Phosphatase binding	IDA	19389623
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0031514	Component	Motile cilium	IEA
GO:0036064	Component	Ciliary basal body	IDA	29257953
GO:0036126	Component	Sperm flagellum	ISS
GO:0042995	Component	Cell projection	IEA
GO:0160111	Component	Axonemal A tubule inner sheath	ISS

MIM	HGNC	e!Ensembl
619047	28869	ENSG00000162148

Q7Z5V6

Protein name

Stabilizer of axonemal microtubules 4 (Protein phosphatase 1 regulatory subunit 32)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15691	PPP1R32	2 → 416	Protein phosphatase 1 regulatory subunit 32	Family

Sequence

MMGKLPLGVVSPYVKMSSGGYTDPLKFYATSYCTAYGREDFKPRVGSHVGTGYKSNFQPV
VSCQASLEALDNPARGEQAQDHFQSVASQSYRPLEVPDGKHPLPWSMRQTSSGYGREKPS
AGPPTKEVRKVHFDTQEHGPQAITGLEPREVPLLHQQQGQDPLERENFRHGPRFMTSEYN
SKYLRDPLDQPDFLQKKSIGAKEGSGFTKQSHQSPIVFQPPSQALPGDPALLPGQSVTKS
DFLPKTHLHGDEFLPVLARGSKRETAFSRGNERILNPRVPPPCPEPSSVSHQQFQPLHRM
QQTNVALLGRETVGKKEPTGFSLNNPMYVRSPCDPDRDQRYLTTYNQGYFENIPKGLDQE
GWTRGGIQPQMPGGYALSQPVSCMEATPNPMESLRHLHPHVGRTLTSADPFYQNTPHSSR
CVAHS

Sequence length

425

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (9)
Acute myeloid leukemia	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	30595370	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	37947095, 38965376	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	38374256, 39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes Genes most often co-reported with SAXO4 across shared curated disease and pathway associations. 0 Download as csv Download as pdf
No strongly related genes found yet for SAXO4.

Diseases Linked via Similar Genes Diseases curated for genes most similar to SAXO4 (see Related Genes above), that are NOT already directly curated for SAXO4 itself -- a lead worth checking, not a confirmed association. 0 Download as csv Download as pdf
No additional diseases found yet through genes similar to SAXO4.

SAXO4 (stabilizer of axonemal microtubules 4)

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