CSTF2T
Cleavage Stimulation Factor Subunit 2 Tau Variant
Gene Information Card
| Symbol | CSTF2T |
|---|---|
| Full Name | Cleavage Stimulation Factor Subunit 2 Tau Variant |
| Gene Type | Protein coding |
| Chromosomal Location | 10q11.22 |
| NCBI Gene ID | 23283 ncbi.nlm.nih.gov/gene/23283 |
| Ensembl ID | ENSG00000120063 |
| UniProt ID | Q9H0L4 |
| OMIM ID | 611968 |
| HGNC ID | 24842 |
| Aliases | CSTF-64 tau, CSTF2T, CstF-64 tau |
Description
CSTF2T encodes a tau variant of the 64 kDa subunit of the cleavage stimulation factor (CstF), a complex involved in pre-mRNA 3' end processing, specifically polyadenylation. The protein binds to GU-rich elements downstream of the polyadenylation signal and is essential for efficient cleavage and polyadenylation of mRNA precursors. CSTF2T is expressed in testis and other tissues, and its dysregulation is implicated in cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered polyadenylation site selection leading to oncogene activation or tumor suppressor silencing | COSMIC, literature |
| Male infertility | Defective spermatogenesis due to impaired mRNA processing | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Brain | 12.1 | Medium |
| Lung | 8.5 | Medium |
| Liver | 3.2 | Low |
| Heart | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Cervical cancer cell line |
| K562 | 22.3 | Leukemia cell line |
| HepG2 | 9.7 | Liver cancer cell line |
| A549 | 14.0 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.01% (COSMIC) | Altered RNA binding affinity |
| c.567_569del | In-frame deletion | <0.01% | Loss of protein stability |
Mutation functional classification
Loss of Function (LOF)
Impaired polyadenylation efficiency leading to mRNA instability
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • mRNA 3'-end processing | • polyadenylation |
| • RNA binding | • cleavage stimulation factor complex |
| • nucleus |
Pathways
• mRNA 3'-end processing
• RNA transport
Protein Summary
CSTF2T is a 64 kDa protein that functions as a subunit of the cleavage stimulation factor (CstF). It contains an RNA recognition motif (RRM) that binds to GU-rich sequences in pre-mRNA, facilitating polyadenylation. The protein is highly expressed in testis and plays a role in spermatogenesis. Alternative splicing of CSTF2T produces multiple isoforms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CSTF2T Knockout HEK293 Cell Line | EDJ-KQ7944 | Human | 23283 | Details Get a Quote |
| CSTF2T Knockout A-549 Cell Line | EDJ-KQ32277 | Human | 23283 | Details Get a Quote |
| CSTF2T Knockout HCT 116 Cell Line | EDJ-KQ33606 | Human | 23283 | Details Get a Quote |
| CSTF2T Knockout HeLa Cell Line | EDJ-KQ33607 | Human | 23283 | Details Get a Quote |
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