SSU72L4 Gene: Structure, Function, and Clinical Relevance
A comprehensive biomedical overview of SSU72L4, including genomic context, expression, mutations, and disease associations.
Gene Information Card
| Symbol | SSU72L4 |
|---|---|
| Full Name | SSU72 like 4 |
| Gene Type | protein coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 100130776 ncbi.nlm.nih.gov/gene/100130776 |
| Ensembl ID | ENSG00000269335 |
| UniProt ID | A0A0A0MS03 |
| OMIM ID | Not available |
| HGNC ID | HGNC:53889 |
| Aliases | SSU72L4, C1orf216 |
Description
SSU72L4 (SSU72 like 4) is a protein-coding gene located on chromosome 1p36.33. It is predicted to be involved in RNA processing and transcription regulation, similar to its homolog SSU72. The gene is expressed in various tissues, with highest expression in the testis and thyroid. Its exact biological function and clinical significance are still under investigation, but it may play a role in cellular stress responses and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Not established | No direct disease association has been confirmed. In silico analyses suggest potential involvement in cancer due to its location in a tumor suppressor region, but functional evidence is lacking. | No clinical evidence from ClinVar or OMIM. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Thyroid | 8.5 | Low |
| Adrenal gland | 6.2 | Low |
| Lung | 4.1 | Low |
| Brain | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 5.0 | Moderate expression |
| K562 | 3.2 | Low expression |
| MCF7 | 2.5 | Low expression |
| A549 | 1.8 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs146755890 | SNV (missense) | 0.001% (global) | p.Arg123His; predicted benign by in silico tools, no known effect. |
| rs148978354 | SNV (synonymous) | 0.002% (global) | p.Pro45Pro; no effect on protein sequence. |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations have been reported in ClinVar or COSMIC for SSU72L4.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • phosphatase activity (GO:0016791) |
| • nucleus (GO:0005634) | • RNA processing (GO:0006396) |
| • transcription regulation (GO:0006355) |
Pathways
• RNA polymerase II transcription
• mRNA processing
Protein Summary
The SSU72L4 protein is predicted to contain a Ssu72-like phosphatase domain, suggesting it may dephosphorylate RNA polymerase II C-terminal domain (CTD) during transcription. It is localized to the nucleus and may participate in pre-mRNA splicing or transcription termination. However, experimental validation is limited, and its exact substrates and cellular roles remain to be characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SSU72L4 Knockout HEK293 Cell Line | EDJ-KQ15521 | Human | 441584 | Details Get a Quote |
| SSU72L4 Knockout A-549 Cell Line | EDJ-KQ46348 | Human | 441584 | Details Get a Quote |
| SSU72L4 Knockout HCT 116 Cell Line | EDJ-KQ46349 | Human | 441584 | Details Get a Quote |
| SSU72L4 Knockout HeLa Cell Line | EDJ-KQ46350 | Human | 441584 | Details Get a Quote |
