PBLD
protein-codingphenazine biosynthesis like protein domain containing
Gene summary
Enables identical protein binding activity. Involved in several processes, including antiviral innate immune response; maintenance of gastrointestinal epithelium; and positive regulation of canonical NF-kappaB signal transduction. Acts upstream of or within with a positive effect on negative regulation of transforming growth factor beta receptor signaling pathway. Located in cytoplasm. [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 ~50.4 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 PBLD variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_022129.4. 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 | 0 | |||||
| missense | 43 | 1 | 44 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 5 | 5 | ||||
| Total | 0 | 0 | 48 | 1 | 0 | 49 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_071412.2 | 9 | MANE Select | |
| Ensembl | ENSP00000351619.2 | 9 | MANE Select | |
| RefSeq | NP_001028255.1 | 8 | Standard | |
| Ensembl | ENSP00000308466.4 | 9 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- biosynthetic process
- negative regulation of epithelial cell migration
- negative regulation of epithelial to mesenchymal transition
- maintenance of gastrointestinal epithelium
- negative regulation of transforming growth factor beta receptor signaling pathway
Molecular Function
- molecular_function
- protein binding
- isomerase activity
- identical protein binding
Cellular Component
- cytoplasm
- extracellular exosome
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000358769
- Coding exons
- 9
- Length
- 50390
- Individuals with no LoFs
- 125535
- Homozygous LoFs
- 1
- Heterozygous LoFs
- 211
- Defined
- 125747
- p
- 0.000843
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.353 | 150 | 163 | 0.922 | 0.00000860 | 1877 |
| Missense (PolyPhen) | 42 | 50.945 | 0.82442 | 624 | ||
| Synonymous | 0.865 | 53 | 61.6 | 0.860 | 0.00000359 | 580 |
| Loss of Function | -0.143 | 16 | 15.4 | 1.04 | 8.36e-7 | 171 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0099 | 0.0098 | notable |
| Latino/Admixed American | 0.00035 | 0.00035 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00076 | 0.00076 | rare |
| Finnish | 0.000046 | 0.000046 | rare |
| European (Non-Finnish) | 0.00016 | 0.00016 | rare |
| South Asian | 0.00024 | 0.00023 | rare |
| Other | 0.00016 | 0.00016 | rare |
dbNSFP Gene Annotations
Source:
Recessive Scores
- pRec
- 0.112
Intolerance Scores
- LoFtool
- 0.938
- RVIS EVS
- 0.11
- RVIS percentile EVS
- 61.73
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.825
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |