PRPF40B Gene: Pre-mRNA Processing Factor 40 Homolog B
A key regulator of pre-mRNA splicing, implicated in cancer and developmental disorders.
Gene Information Card
| Symbol | PRPF40B |
|---|---|
| Full Name | pre-mRNA processing factor 40 homolog B |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.2 |
| NCBI Gene ID | 25766 ncbi.nlm.nih.gov/gene/25766 |
| Ensembl ID | ENSG00000110844 |
| UniProt ID | Q6P1J9 |
| OMIM ID | 617341 |
| HGNC ID | 24055 |
| Aliases | PRP40B, FBP11, FLJ21908 |
Description
PRPF40B encodes a protein that is part of the U1 snRNP complex and is involved in pre-mRNA splicing. It contains WW domains that interact with proline-rich regions of other splicing factors, facilitating spliceosome assembly. PRPF40B is widely expressed and has been implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and mutations may affect splicing of oncogenes/tumor suppressors. | COSMIC; literature |
| Developmental disorders | Potential role in neurodevelopment; mutations may disrupt splicing of key genes. | OMIM; literature |
| Intellectual disability | Rare variants reported in patients; functional studies ongoing. | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.3 | High |
| Brain | 15.2 | Medium |
| Lung | 10.1 | Medium |
| Liver | 5.4 | Low |
| Muscle | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 18.5 | Leukemia cell line; high expression |
| HeLa | 12.3 | Cervical cancer; moderate |
| A549 | 8.7 | Lung cancer; moderate |
| HepG2 | 4.2 | Liver cancer; low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Lys412Glu) | Missense | 0.01% (gnomAD) | Unknown; may affect protein function |
| c.567delC (p.Leu189Trpfs*13) | Frameshift | Rare | Loss of function; likely pathogenic |
| c.890C>T (p.Pro297Leu) | Missense | 0.005% | Possibly damaging; in vitro splicing defect |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported; no evidence of oncogenic gain-of-function mutations.
Dominant Negative (DN)
Possible for missense mutations that disrupt protein-protein interactions without complete loss.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mRNA splicing |
| • via spliceosome | • protein binding |
| • nucleus | • spliceosomal complex |
Pathways
• mRNA Splicing - Major Pathway
• Processing of Capped Intron-Containing Pre-mRNA
Protein Summary
PRPF40B is a 1007-amino acid protein containing two WW domains and a proline-rich region. It interacts with U1 snRNP components and other splicing factors, playing a role in 5' splice site recognition. The protein is localized in the nucleus and is ubiquitously expressed, with higher levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRPF40B Knockout HEK293 Cell Line | EDJ-KQ14902 | Human | 25766 | Details Get a Quote |
| PRPF40B Knockout HeLa Cell Line | EDJ-KQ44091 | Human | 25766 | Details Get a Quote |
| PRPF40B Knockout A-549 Cell Line | EDJ-KQ45358 | Human | 25766 | Details Get a Quote |
| PRPF40B Knockout HCT 116 Cell Line | EDJ-KQ45359 | Human | 25766 | Details Get a Quote |
