CTDSP2
CTD Small Phosphatase 2
Gene Information Card
| Symbol | CTDSP2 |
|---|---|
| Full Name | CTD Small Phosphatase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q14.1 |
| NCBI Gene ID | 10106 ncbi.nlm.nih.gov/gene/10106 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | O14595 |
| OMIM ID | 608493 |
| HGNC ID | 17077 |
| Aliases | OS4, SCP2, SCP-2 |
Description
CTDSP2 encodes a member of the small CTD phosphatase family. The protein dephosphorylates the C-terminal domain of RNA polymerase II, regulating transcription and cell cycle progression. It is involved in neuronal differentiation and has tumor suppressor activity in some cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Reduced expression may promote proliferation | PMID: 23431137 |
| Glioma | Downregulation associated with poor prognosis | PMID: 25686877 |
| Colorectal cancer | Epigenetic silencing contributes to tumorigenesis | PMID: 27562873 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Heart | 8.7 | Low |
| Liver | 6.3 | Low |
| Testis | 20.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.5 | Embryonic kidney |
| HeLa | 12.3 | Cervical carcinoma |
| SH-SY5Y | 22.0 | Neuroblastoma |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96His) | Missense | 0.01% | Unknown functional impact |
| c.421C>T (p.Arg141*) | Nonsense | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutation p.Arg141* leads to truncated protein.
Gain of Function (GOF)
No evidence.
Dominant Negative (DN)
No evidence.
View complete mutation data:
Gene Ontology (GO)
| • RNA polymerase II CTD heptapeptide repeat phosphatase activity | • Protein dephosphorylation |
| • Nucleus | • Regulation of transcription by RNA polymerase II |
Pathways
• RNA polymerase II transcription termination
• Dephosphorylation of RNA polymerase II C-terminal domain
Protein Summary
CTDSP2 is a 271-amino acid protein that belongs to the haloacid dehalogenase (HAD) superfamily. It specifically dephosphorylates Ser5 of the RNA polymerase II CTD, thereby influencing transcriptional elongation and termination. The protein is predominantly nuclear and expressed in multiple tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CTDSP2 Knockout HEK293 Cell Line | EDJ-KQ6901 | Human | 10106 | Details Get a Quote |
| CTDSP2 Knockout A-549 Cell Line | EDJ-KQ30146 | Human | 10106 | Details Get a Quote |
| CTDSP2 Knockout HCT 116 Cell Line | EDJ-KQ31519 | Human | 10106 | Details Get a Quote |
| CTDSP2 Knockout HeLa Cell Line | EDJ-KQ31520 | Human | 10106 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records