CEP70
protein-codingcentrosomal protein 70
Gene summary
Enables identical protein binding activity. Predicted to be involved in cilium assembly. Predicted to act upstream of or within several processes, including microtubule cytoskeleton organization; single fertilization; and spermatid development. Located in centrosome. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~100.2 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 CEP70 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_024491.4. 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 | 2 | 1 | 3 | |||
| missense | 77 | 5 | 82 | |||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 8 | 8 | ||||
| Total | 0 | 0 | 88 | 6 | 0 | 94 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_077817.2 | 16 | MANE Select | |
| Ensembl | ENSP00000264982.3 | 16 | MANE Select | |
| RefSeq | NP_001275893.1 | 16 | Standard | |
| RefSeq | NP_001275894.1 | 16 | Standard |
Model Organisms & Knockout Phenotypes
Observed phenotypic effects in mouse and zebrafish models
| Gene / Model | Organism | Observed Phenotype |
|---|---|---|
| cep70 | Danio rerio | Structure: otolith Quality: mislocalised abnormal |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Regulation of PLK1 Activity at G2/M Transition
- Recruitment of mitotic centrosome proteins and complexes
- Loss of Nlp from mitotic centrosomes
- Loss of proteins required for interphase microtubule organization from the centrosome
- Centrosome maturation
Biological Process
- G2/M transition of mitotic cell cycle
- regulation of G2/M transition of mitotic cell cycle
- regulation of microtubule cytoskeleton organization
- ciliary basal body-plasma membrane docking
Molecular Function
- protein binding
- identical protein binding
- gamma-tubulin binding
Cellular Component
- nucleoplasm
- centrosome
- cytosol
- nuclear membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000264982
- Coding exons
- 16
- Length
- 100195
- Individuals with no LoFs
- 125605
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 141
- Defined
- 125746
- p
- 0.000561
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.0397 | 281 | 279 | 1.01 | 0.0000128 | 3946 |
| Missense (PolyPhen) | 81 | 83.413 | 0.97107 | 1245 | ||
| Synonymous | -0.0928 | 100 | 98.8 | 1.01 | 0.00000473 | 990 |
| Loss of Function | 1.58 | 28 | 38.6 | 0.726 | 0.00000199 | 490 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00050 | 0.00049 | rare |
| Latino/Admixed American | 0.00087 | 0.00084 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00022 | 0.00022 | rare |
| Finnish | 0.0013 | 0.0012 | notable |
| European (Non-Finnish) | 0.00049 | 0.00047 | rare |
| South Asian | 0.00054 | 0.00052 | rare |
| Other | 0.00052 | 0.00049 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Plays a role in the organization of both preexisting and nascent microtubules in interphase cells. During mitosis, required for the organization and orientation of the mitotic spindle.;
Recessive Scores
- pRec
- 0.107
Intolerance Scores
- LoFtool
- 0.973
- RVIS EVS
- 0.11
- RVIS percentile EVS
- 62.1
Essentials
- Essential (CRISPR)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0303
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |