PCDHB@
otherprotocadherin beta cluster, the group of Clustered protocadherins
Gene summary
The protocadherin beta cluster is one of three related gene clusters tandemly linked on chromosome five. The protocadherin genes have an immunoglobulin-like genomic organization, suggesting that a novel mechanism may be involved in their regulation and expression. The beta cluster contains 16 genes and 3 pseudogenes. Each gene product contains 6 extracellular cadherin domains and a cytoplasmic tail that diverges from other cadherin superfamily members. Unlike the alpha and gamma clusters, the beta cluster has a variable region but lacks a constant region. Without this downstream region of shared exons, each transcript encodes a unique cytoplasmic tail. The specific functions of these one-exon gene products are unknown; however, they are thought to play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
External References & Databases
GenCC 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 PCDHB@ variants in ClinVar
No annotated ClinVar phenotypes.
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript . 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 | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 | 0 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| No transcripts match your selected source or search query. | ||||