TSSC4: Tumor Suppressing Subtransfer Candidate 4
A gene encoding a protein of unknown function, implicated in genomic imprinting and potential tumor suppression.
Gene Information Card
| Symbol | TSSC4 |
|---|---|
| Full Name | Tumor Suppressing Subtransfer Candidate 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.5 |
| NCBI Gene ID | 10008 ncbi.nlm.nih.gov/gene/10008 |
| Ensembl ID | ENSG00000110367 |
| UniProt ID | Q9Y3A2 |
| OMIM ID | 604237 |
| HGNC ID | 12396 |
| Aliases | BWR1C, ICR1, SLC22A1LS, TSSC4 |
Description
TSSC4 (Tumor Suppressing Subtransfer Candidate 4) is a protein-coding gene located on chromosome 11p15.5, a region frequently implicated in genomic imprinting and tumor suppression. The gene is maternally expressed and is part of the imprinted gene cluster associated with Beckwith-Wiedemann syndrome. The exact function of the TSSC4 protein remains largely unknown, but it is thought to play a role in cell growth regulation and tumor suppression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Beckwith-Wiedemann syndrome | Imprinted gene dysregulation in 11p15.5 region | OMIM #130650 |
| Wilms tumor | Loss of heterozygosity and imprinting defects | COSMIC, ClinVar |
| Rhabdomyosarcoma | Altered expression in 11p15.5 cluster | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Liver | 6.1 | Low |
| Brain | 4.7 | Low |
| Heart | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney cells |
| HeLa | 9.8 | Cervical cancer cells |
| HepG2 | 7.4 | Liver cancer cells |
| A549 | 5.1 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | 0.01% | Unknown |
| c.100C>T | Nonsense | 0.005% | Predicted loss of function |
| c.200_201del | Frameshift | 0.002% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in TSSC4 are predicted to result in loss of function, potentially contributing to tumorigenesis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for TSSC4.
Dominant Negative (DN)
No dominant-negative mutations have been described for TSSC4.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 (GO:0005515) | • GO:0005737 (GO:0005737) |
| • GO:0005634 (GO:0005634) |
Pathways
• Imprinted gene regulation in 11p15.5
Protein Summary
The TSSC4 protein (UniProt Q9Y3A2) is a 153-amino acid protein with no characterized domains. It is predicted to be cytoplasmic and nuclear. Its function remains unknown, but it is thought to be involved in cell cycle regulation and tumor suppression based on its genomic context.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TSSC4 Knockout HEK293 Cell Line | EDJ-KQ6887 | Human | 10078 | Details Get a Quote |
| TSSC4 Knockout A-549 Cell Line | EDJ-KQ31488 | Human | 10078 | Details Get a Quote |
| TSSC4 Knockout HCT 116 Cell Line | EDJ-KQ31489 | Human | 10078 | Details Get a Quote |
| TSSC4 Knockout HeLa Cell Line | EDJ-KQ31490 | Human | 10078 | Details Get a Quote |
