TPPP2
protein-codingtubulin polymerization promoting protein family member 2, the group of Tubulin polymerization promoting proteins
Gene summary
Enables tubulin binding activity. Involved in regulation of flagellated sperm motility. Located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]
- C14orf8
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~12.2 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to TPPP2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_173846.5. 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 | 0 | |||||
| missense | 23 | 23 | ||||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 23 | 0 | 1 | 24 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_776245.2 | 3 | MANE Select | |
| Ensembl | ENSP00000317595.6 | 3 | MANE Select | |
| Ensembl | ENSP00000427504.2 | 2 | Standard | |
| Ensembl | ENSP00000427504.2 | 2 | Standard |
Model Organisms & Knockout Phenotypes
Observed phenotypic effects in mouse and zebrafish models
| Gene / Model | Organism | Observed Phenotype |
|---|---|---|
| tppp2 | Danio rerio | Structure: Rohon-Beard neuron Quality: decreased branchiness abnormal |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- microtubule bundle formation
- positive regulation of protein polymerization
- microtubule polymerization
Molecular Function
- tubulin binding
Cellular Component
- cytosol
- microtubule
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000321760
- Coding exons
- 3
- Length
- 12168
- Individuals with no LoFs
- 125500
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 245
- Defined
- 125745
- p
- 0.000975
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.242 | 111 | 104 | 1.07 | 0.00000615 | 1118 |
| Missense (PolyPhen) | 29 | 32.32 | 0.89729 | 415 | ||
| Synonymous | -0.292 | 44 | 41.6 | 1.06 | 0.00000270 | 324 |
| Loss of Function | 0.958 | 3 | 5.40 | 0.555 | 3.10e-7 | 74 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0.00026 | 0.00026 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00049 | 0.00049 | rare |
| Finnish | 0.00055 | 0.00055 | rare |
| European (Non-Finnish) | 0.0017 | 0.0017 | notable |
| South Asian | 0.00036 | 0.00036 | rare |
| Other | 0.0013 | 0.0013 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: May bind tubulin but has no microtubule bundling activity. {ECO:0000269|PubMed:17105200}.;
Recessive Scores
- pRec
- 0.103
Intolerance Scores
- LoFtool
- 0.640
- RVIS EVS
- 0.57
- RVIS percentile EVS
- 81.99
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.307
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |