CCDC136
protein-codingcoiled-coil domain containing 136
Gene summary
Predicted to be involved in acrosome assembly and single fertilization. Predicted to be located in cytoplasmic vesicle. Predicted to be active in acrosomal membrane. [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 ~31.4 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 CCDC136 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_022742.5. 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 | 3 | 4 | 7 | |||
| missense | 160 | 11 | 3 | 174 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 2 | 2 | ||||
| Total | 0 | 0 | 162 | 14 | 7 | 183 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_073579.5 | 17 | MANE Select | |
| Ensembl | ENSP00000297788.4 | 17 | MANE Select | |
| RefSeq | NP_001188301.1 | 9 | Standard | |
| RefSeq | NP_001350352.1 | 16 | Standard |
Model Organisms & Knockout Phenotypes
Observed phenotypic effects in mouse and zebrafish models
| Gene / Model | Organism | Observed Phenotype |
|---|---|---|
| ccdc136b | Danio rerio | Structure: trunk Quality: absent abnormal |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- acrosome assembly
- spermatogenesis
- single fertilization
Cellular Component
- acrosomal membrane
- integral component of membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000297788
- Coding exons
- 17
- Length
- 31376
- Individuals with no LoFs
- 124563
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 85
- Defined
- 124648
- p
- 0.000341
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.13 | 513 | 590 | 0.869 | 0.0000326 | 7624 |
| Missense (PolyPhen) | 188 | 223.07 | 0.84277 | 3042 | ||
| Synonymous | 1.17 | 212 | 235 | 0.903 | 0.0000129 | 1992 |
| Loss of Function | 3.28 | 31 | 58.0 | 0.535 | 0.00000263 | 751 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00027 | 0.00026 | rare |
| Latino/Admixed American | 0.00095 | 0.00087 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00071 | 0.00067 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00031 | 0.00031 | rare |
| South Asian | 0.000033 | 0.000033 | rare |
| Other | 0.00052 | 0.00050 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: May play a role in acrosome formation in spermatogenesis and in fertilization. {ECO:0000250|UniProtKB:Q3TVA9}.;
Recessive Scores
- pRec
- 0.0998
Intolerance Scores
- RVIS EVS
- 0.3
- RVIS percentile EVS
- 71.68
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.285
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |