PLAC8
protein-codingplacenta associated 8
Gene summary
Predicted to enable chromatin binding activity. Predicted to be involved in positive regulation of cold-induced thermogenesis and positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including brown fat cell differentiation; defense response to bacterium; and response to cold. Predicted to be located in azurophil granule lumen and extracellular region. [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 ~77.6 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 PLAC8 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_016619.3. 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 | 0 | |||||
| missense | 11 | 1 | 12 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 12 | 1 | 0 | 13 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_057703.1 | 3 | MANE Select | |
| Ensembl | ENSP00000309509.4 | 3 | MANE Select | |
| RefSeq | NP_001124187.1 | 3 | Standard | |
| RefSeq | NP_001124188.1 | 3 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Gastric Cancer Network 2
- Differentiation of white and brown adipocyte
- Neutrophil degranulation
- Innate Immune System
- Immune System
Biological Process
- positive regulation of cell population proliferation
- response to cold
- negative regulation of multicellular organism growth
- defense response to bacterium
- negative regulation of apoptotic process
Molecular Function
- chromatin binding
Cellular Component
- extracellular region
- azurophil granule lumen
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000426923
- Coding exons
- 3
- Length
- 47028
- Individuals with no LoFs
- 125742
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 6
- Defined
- 125748
- p
- 0.0000239
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.06 | 46 | 71.2 | 0.646 | 0.00000403 | 753 |
| Missense (PolyPhen) | 10 | 22.112 | 0.45225 | 286 | ||
| Synonymous | 1.16 | 20 | 27.8 | 0.719 | 0.00000199 | 215 |
| Loss of Function | 1.34 | 2 | 5.33 | 0.375 | 3.12e-7 | 53 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0.000088 | 0.000087 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.0000088 | 0.0000088 | rare |
| South Asian | 0.000065 | 0.000065 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
Recessive Scores
- pRec
- 0.111
Intolerance Scores
- LoFtool
- 0.385
- RVIS EVS
- -0.03
- RVIS percentile EVS
- 51.04
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- S
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.539
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Low | Low |
| Primary Immunodeficiency | Medium | Low | Medium |
| Cancer | Medium | Medium | Medium |