CTDSPL2 Gene - CTD Small Phosphatase Like 2
A comprehensive resource for CTDSPL2 gene information, including genomic data, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | CTDSPL2 |
|---|---|
| Full Name | CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q15.3 |
| NCBI Gene ID | 51496 ncbi.nlm.nih.gov/gene/51496 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q8N5M9 |
| OMIM ID | 612147 |
| HGNC ID | 29170 |
| Aliases | HSPC129, C15orf2, FLJ11184 |
Description
CTDSPL2 encodes a member of the small CTD phosphatase family. The protein dephosphorylates the carboxy-terminal domain of RNA polymerase II, regulating transcription and cell cycle progression. It is involved in neuronal differentiation and may play a role in tumor suppression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Downregulation of CTDSPL2 may contribute to tumor progression via altered RNA polymerase II activity. | PMID: 23431147 |
| Colorectal cancer | Reduced expression associated with poor prognosis; potential tumor suppressor. | PMID: 25605247 |
| Neuroblastoma | CTDSPL2 expression correlates with differentiation status. | PMID: 17344887 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Liver | 8.1 | Low |
| Colon | 7.4 | Low |
| Lung | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | High expression |
| HeLa | 11.8 | Medium expression |
| HepG2 | 9.2 | Medium expression |
| SH-SY5Y | 14.1 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Ala34Val) | Missense | <0.1% | Unknown functional impact |
| c.457G>A (p.Glu153Lys) | Missense | <0.1% | Unknown functional impact |
| c.784_785insA | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.784_785insA) are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RNA polymerase II transcription regulation
• Dephosphorylation of RNA polymerase II C-terminal domain
Protein Summary
CTDSPL2 is a 307-amino acid protein with a conserved phosphatase domain. It localizes to the nucleus and dephosphorylates Ser5 of the RNA polymerase II CTD, influencing transcriptional elongation and cell cycle. It is widely expressed, with highest levels in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CTDSPL2 Knockout HEK293 Cell Line | EDJ-KQ11113 | Human | 51496 | Details Get a Quote |
| CTDSPL2 Knockout A-549 Cell Line | EDJ-KQ39087 | Human | 51496 | Details Get a Quote |
| CTDSPL2 Knockout HCT 116 Cell Line | EDJ-KQ39088 | Human | 51496 | Details Get a Quote |
| CTDSPL2 Knockout HeLa Cell Line | EDJ-KQ39089 | Human | 51496 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
