ZBBX
protein-codingzinc finger B-box domain containing
Gene summary
Predicted to enable zinc ion binding activity. [provided by Alliance of Genome Resources, Jul 2025]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~168.0 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 ZBBX variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001199201.2. 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 | 2 | 3 | |||
| missense | 106 | 14 | 3 | 123 | ||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 111 | 16 | 3 | 130 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001186130.1 | 19 | MANE Select | |
| Ensembl | ENSP00000502603.1 | 19 | MANE Select | |
| RefSeq | NP_001186131.1 | 17 | Standard | |
| RefSeq | NP_001364418.1 | 18 | Standard |
Model Organisms & Knockout Phenotypes
Observed phenotypic effects in mouse and zebrafish models
| Gene / Model | Organism | Observed Phenotype |
|---|---|---|
| zbbx | Danio rerio | Structure: ventricular system Quality: hydrocephalic abnormal |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Molecular Function
- zinc ion binding
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000455345
- Coding exons
- 19
- Length
- 141060
- Individuals with no LoFs
- 124256
- Homozygous LoFs
- 1
- Heterozygous LoFs
- 518
- Defined
- 124775
- p
- 0.00208
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.127 | 381 | 388 | 0.982 | 0.0000179 | 5507 |
| Missense (PolyPhen) | 79 | 79.711 | 0.99108 | 1222 | ||
| Synonymous | -0.924 | 155 | 141 | 1.10 | 0.00000698 | 1446 |
| Loss of Function | 1.25 | 37 | 46.1 | 0.802 | 0.00000228 | 642 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0029 | 0.0029 | notable |
| Latino/Admixed American | 0.00098 | 0.00096 | rare |
| Ashkenazi Jewish | 0.00041 | 0.00040 | rare |
| East Asian | 0.00028 | 0.00028 | rare |
| Finnish | 0.00014 | 0.00014 | rare |
| European (Non-Finnish) | 0.0033 | 0.0032 | notable |
| South Asian | 0.0019 | 0.0019 | notable |
| Other | 0.0014 | 0.0013 | notable |
dbNSFP Gene Annotations
Source:
Intolerance Scores
- LoFtool
- 0.943
- RVIS EVS
- 2.45
- RVIS percentile EVS
- 98.57
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- S
- Indispensability pred.
- N
- Indispensability score
- 0.0358
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | High | High | High |
| Primary Immunodeficiency | High | High | High |
| Cancer | High | High | High |