PRRC2B
protein-codingproline rich coiled-coil 2B, the group of Small nucleolar RNA protein coding host genes
Gene summary
Enables RNA binding activity. Predicted to be involved in cell differentiation. Predicted to act upstream of or within in utero embryonic development. [provided by Alliance of Genome Resources, Jul 2025]
- KIAA0515
- BAT2L
- BAT2L1
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~126.6 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 PRRC2B variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_013318.4. 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 | 7 | 2 | 3 | 12 | ||
| missense | 381 | 28 | 1 | 410 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 3 | 3 | ||||
| splice donor/acceptor (+/-2bp) | 9 | 9 | ||||
| Total | 0 | 0 | 400 | 30 | 4 | 434 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_037450.2 | 31 | MANE Select | |
| Ensembl | ENSP00000508048.1 | 31 | MANE Select | |
| RefSeq | NP_001371747.1 | 31 | Standard | |
| RefSeq | NP_001371750.1 | 31 | Standard |