TEKT3
protein-codingtektin 3, the group of Tektins
Gene 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 RefSeq, Jul 2008]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~37.8 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
Inheritance Pattern: Unknown
Disease ID:MONDO:0859522
Submitter: Labcorp Genetics (formerly Invitae)
Clinical Genomic Database (CGD)
Manifestation: Genitourinary
Intervention: General
Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to TEKT3 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_031898.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 2 | 104 | 1 | 107 | ||
| nonsense | 1 | 1 | 2 | |||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 4 | 1 | 104 | 2 | 1 | 112 |
Highest pathogenic variant AF is 0.00007624011
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_114104.1 | 7 | MANE Select | |
| Ensembl | ENSP00000379263.1 | 7 | MANE Select | |
| Ensembl | ENSP00000343995.2 | 7 | Standard | |
| Ensembl | ENSP00000343995.2 | 7 | Standard |
Model Organisms & Knockout Phenotypes
Observed phenotypic effects in mouse and zebrafish models
| Gene / Model | Organism | Observed Phenotype |
|---|---|---|
| tekt3 | Danio rerio | Structure: otolith Quality: malformed abnormal |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- flagellated sperm motility
- cilium assembly
- cilium movement involved in cell motility
- regulation of brood size
Molecular Function
- molecular_function
- protein binding
Cellular Component
- acrosomal membrane
- outer acrosomal membrane
- nucleus
- sperm flagellum
- extracellular exosome
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000395930
- Coding exons
- 7
- Length
- 37831
- Individuals with no LoFs
- 124860
- Homozygous LoFs
- 7
- Heterozygous LoFs
- 881
- Defined
- 125748
- p
- 0.00354
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.203 | 289 | 299 | 0.967 | 0.0000185 | 3219 |
| Missense (PolyPhen) | 81 | 88.054 | 0.91989 | 1028 | ||
| Synonymous | 0.729 | 105 | 115 | 0.913 | 0.00000730 | 949 |
| Loss of Function | -0.207 | 25 | 23.9 | 1.05 | 0.00000154 | 242 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.024 | 0.024 | notable |
| Latino/Admixed American | 0.0024 | 0.0024 | notable |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.0086 | 0.0062 | notable |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.0012 | 0.0012 | notable |
| South Asian | 0.0058 | 0.0054 | notable |
| Other | 0.0020 | 0.0020 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: May be a structural component of the sperm flagellum. Required for normal sperm mobility. {ECO:0000250|UniProtKB:Q6X6Z7}.;
Recessive Scores
- pRec
- 0.0972
Intolerance Scores
- LoFtool
- 0.974
- RVIS EVS
- 0.91
- RVIS percentile EVS
- 89.51
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0446
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | High |
| Cancer | Medium | Medium | Medium |