CPSF2: Cleavage and Polyadenylation Specificity Factor Subunit 2
A key component of the mRNA 3'-end processing machinery involved in polyadenylation and cleavage.
Gene Information Card
| Symbol | CPSF2 |
|---|---|
| Full Name | Cleavage and polyadenylation specificity factor subunit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q32.33 |
| NCBI Gene ID | 53981 ncbi.nlm.nih.gov/gene/53981 |
| Ensembl ID | ENSG00000100811 |
| UniProt ID | Q9P2I0 |
| OMIM ID | 618447 |
| HGNC ID | 2324 |
| Aliases | CPSF100, CPSF-100, KIAA1367 |
Description
CPSF2 encodes a subunit of the cleavage and polyadenylation specificity factor (CPSF) complex, which is essential for pre-mRNA 3'-end processing. The complex recognizes the polyadenylation signal (AAUAAA) and catalyzes RNA cleavage and poly(A) tail addition. CPSF2 is involved in alternative polyadenylation, influencing mRNA stability, localization, and translation. Dysregulation of CPSF2 has been implicated in cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression of CPSF2 affects alternative polyadenylation of oncogenes and tumor suppressors, impacting cell proliferation and survival. | COSMIC; PMID: 25631445 |
| Neurodevelopmental disorders | Mutations in CPSF2 may disrupt mRNA processing in neurons, leading to impaired synaptic function. | ClinVar; PMID: 31036916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Brain | 15.2 | Medium |
| Lung | 12.8 | Medium |
| Liver | 8.4 | Low |
| Heart | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.3 | Embryonic kidney cells; high expression |
| HeLa | 18.7 | Cervical cancer cells; moderate expression |
| K562 | 14.5 | Leukemia cells; moderate expression |
| HepG2 | 9.2 | Liver cancer cells; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.01% (gnomAD) | Unknown functional impact; predicted damaging by SIFT |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function; likely pathogenic in neurodevelopmental disorders |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in CPSF2 are predicted to cause loss of function, impairing mRNA 3'-end processing.
Gain of Function (GOF)
No gain-of-function mutations reported in CPSF2.
Dominant Negative (DN)
No dominant-negative mutations reported in CPSF2.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • RNA binding (GO:0003723) |
| • mRNA polyadenylation (GO:0006378) | • mRNA 3'-end processing (GO:0031124) |
| • mRNA cleavage and polyadenylation specificity factor complex (GO:0005847) |
Pathways
• mRNA 3'-end processing (Reactome: R-HSA-72172)
• Cleavage of mRNA at the polyadenylation site (Reactome: R-HSA-72163)
Protein Summary
CPSF2 is a 782-amino acid protein that forms part of the CPSF complex. It contains a beta-CASP domain and a zinc finger motif, which are involved in RNA binding and cleavage. The protein interacts with other CPSF subunits (CPSF1, CPSF3, CPSF4) and with poly(A) polymerase. CPSF2 is essential for accurate polyadenylation and is conserved across eukaryotes.
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