SSU72L2 Gene - SSU72 Like RNA Polymerase II CTD Phosphatase Subunit 2
A pseudogene-derived protein-coding gene with potential roles in transcriptional regulation and cancer.
Gene Information Card
| Symbol | SSU72L2 |
|---|---|
| Full Name | SSU72 like RNA polymerase II CTD phosphatase subunit 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 100131392 ncbi.nlm.nih.gov/gene/100131392 |
| Ensembl ID | ENSG00000228709 |
| UniProt ID | A6NKF9 |
| OMIM ID | Not available |
| HGNC ID | HGNC:33733 |
| Aliases | SSU72L, C1orf198 |
Description
SSU72L2 is a protein-coding gene located on the short arm of chromosome 1 (1p36.33). It is predicted to encode a protein similar to SSU72, a phosphatase involved in RNA polymerase II transcription. However, SSU72L2 is considered a pseudogene-derived gene, and its exact functional role remains to be fully characterized. It is expressed in various tissues and has been implicated in some cancers, but detailed mechanistic studies are limited.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pan-cancer) | Potential involvement in tumorigenesis; expression changes observed in multiple cancer types. | Expression data from TCGA and GTEx; limited functional studies. |
| Breast cancer | Altered expression; possible role in tumor progression. | Expression analysis in breast cancer cell lines and tissues. |
| Lung cancer | Differential expression; potential biomarker. | Expression profiling studies. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Thyroid | 4.1 | Low |
| Adrenal gland | 3.8 | Low |
| Bone marrow | 3.5 | Low |
| Lung | 3.2 | Low |
| Breast | 2.9 | Low |
| Colon | 2.5 | Low |
| Liver | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 3.0 | Low expression |
| A549 (lung cancer) | 2.8 | Low expression |
| HepG2 (liver cancer) | 1.5 | Very low |
| K562 (leukemia) | 2.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | 0.01% (gnomAD) | Potential loss of start codon; functional impact unknown. |
| c.100C>T (p.Arg34Trp) | Missense | 0.005% (gnomAD) | Rare variant; effect on protein function not characterized. |
| c.250G>A (p.Ala84Thr) | Missense | 0.002% (gnomAD) | Rare; no known disease association. |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported; predicted pseudogene may not have essential function.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • Molecular function: phosphoprotein phosphatase activity (predicted) | • Biological process: transcription regulation (predicted) |
| • Cellular component: nucleus (predicted) |
Pathways
• RNA polymerase II transcription (predicted)
Protein Summary
The SSU72L2 protein is predicted to be a small protein (around 200 amino acids) with similarity to SSU72, a CTD phosphatase. However, due to its pseudogene origin, it may lack catalytic activity. Its exact subcellular localization and interaction partners are unknown. Further studies are needed to determine if it has a functional role in transcription or other cellular processes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SSU72L2 Knockout HEK293 Cell Line | EDJ-KQ15519 | Human | 390031 | Details Get a Quote |
| SSU72L2 Knockout HCT 116 Cell Line | EDJ-KQ45109 | Human | 390031 | Details Get a Quote |
| SSU72L2 Knockout A-549 Cell Line | EDJ-KQ46342 | Human | 390031 | Details Get a Quote |
| SSU72L2 Knockout HeLa Cell Line | EDJ-KQ46344 | Human | 390031 | Details Get a Quote |
