Gene Gene information from NCBI Gene database.
Entrez ID 64518
Gene name Tektin 3
Gene symbol TEKT3
Synonyms (NCBI Gene)
SPGF81
Chromosome 17
Chromosome location 17p12
Summary This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. The exact function of this gene is not known. [provided by Re
miRNA miRNA information provided by mirtarbase database.
1
miRTarBase ID miRNA Experiments Reference
MIRT017023 hsa-miR-335-5p Microarray 18185580
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0001669 Component Acrosomal vesicle IEA
GO:0001669 Component Acrosomal vesicle ISS
GO:0002080 Component Acrosomal membrane IEA
GO:0002080 Component Acrosomal membrane ISS
GO:0002081 Component Outer acrosomal membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612683 14293 ENSG00000125409
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BXF9
Protein name Tektin-3
Protein function Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia and flagellar axoneme (PubMed:36191189). Forms filamentous polymers in the walls of ciliary and flagellar microtubules (By similarity). Required fo
PDB 7UNG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03148 Tektin 99 481 Family
Tissue specificity TISSUE SPECIFICITY: Expressed in spermatozoa (PubMed:36708031). Expressed in airway epithelial cells (PubMed:36191189). {ECO:0000269|PubMed:36191189, ECO:0000269|PubMed:36708031}.
Sequence
Sequence length 490
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Spermatogenic failure 81 Pathogenic rs2507940350, rs139570101, rs2508363789 RCV003152581
RCV003152582
RCV003152583
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease BEFREE 16541397
★☆☆☆☆
Found in Text Mining only