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Gene Gene information from NCBI Gene database.
Entrez ID 374877
Gene name Stabilizer of axonemal microtubules 5
Gene symbol SAXO5
Synonyms (NCBI Gene)
C19orf45TEX45
Chromosome 19
Chromosome location 19p13.2
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NA69
Protein name Stabilizer of axonemal microtubules 5 (Testis-expressed protein 45)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15373 DUF4601 66 → 504 Domain of unknown function (DUF4601) Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in testis. {ECO:0000305}.
Sequence
Sequence length 505
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
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.
Phenotype Name Clinical Significance Source Reference Evidence Score
Uterine corpus endometrial carcinoma - ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Squamous cell carcinoma of the head and neck Carcinoma Of The Head And Neck BEFREE 22052802
★★★★★
★☆☆☆☆
Found in Text Mining only