CCDC80
protein-codingcoiled-coil domain containing 80
Gene summary
Predicted to enable fibronectin binding activity and heparin binding activity. Predicted to be involved in extracellular matrix organization and positive regulation of cell-substrate adhesion. Predicted to act upstream of or within response to bacterium. Predicted to be located in interstitial matrix. Predicted to be active in basement membrane. [provided by Alliance of Genome Resources, Jun 2026]
- LINC01279
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~52.7 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 CCDC80 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_199511.3. 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 | 2 | 2 | 2 | 6 | ||
| missense | 129 | 11 | 2 | 142 | ||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 132 | 13 | 4 | 149 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_955805.1 | 7 | MANE Select | |
| Ensembl | ENSP00000206423.3 | 7 | MANE Select | |
| RefSeq | NP_955806.1 | 7 | Standard | |
| Ensembl | ENSP00000411814.2 | 7 | Standard |
Model Organisms & Knockout Phenotypes
Observed phenotypic effects in mouse and zebrafish models
| Gene / Model | Organism | Observed Phenotype |
|---|---|---|
| ccdc80 | Danio rerio | Structure: post-vent region Quality: curved abnormal |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- response to bacterium
- positive regulation of cell-substrate adhesion
- extracellular matrix organization
Molecular Function
- fibronectin binding
- heparin binding
Cellular Component
- basement membrane
- interstitial matrix
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000206423
- Coding exons
- 7
- Length
- 44971
- Individuals with no LoFs
- 125707
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 41
- Defined
- 125748
- p
- 0.000163
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.441 | 522 | 551 | 0.947 | 0.0000330 | 6214 |
| Missense (PolyPhen) | 186 | 220.09 | 0.8451 | 2588 | ||
| Synonymous | -0.299 | 218 | 212 | 1.03 | 0.0000133 | 1881 |
| Loss of Function | 3.19 | 15 | 35.5 | 0.422 | 0.00000196 | 433 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00012 | 0.00012 | rare |
| Latino/Admixed American | 0.00050 | 0.00049 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.000054 | 0.000054 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00018 | 0.00018 | rare |
| South Asian | 0.000033 | 0.000033 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Promotes cell adhesion and matrix assembly. {ECO:0000250}.;
Recessive Scores
- pRec
- 0.140
Intolerance Scores
- LoFtool
- 0.737
- RVIS EVS
- -0.19
- RVIS percentile EVS
- 39.28
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.565
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |