TSN Gene (Translin)
RNA-binding protein involved in DNA damage response and RNA metabolism
Gene Information Card
| Symbol | TSN |
|---|---|
| Full Name | Translin |
| Gene Type | Protein coding |
| Chromosomal Location | 2q14.3 |
| NCBI Gene ID | 7247 ncbi.nlm.nih.gov/gene/7247 |
| Ensembl ID | ENSG00000115977 |
| UniProt ID | Q15631 |
| OMIM ID | 600575 |
| HGNC ID | 12379 |
| Aliases | TRSLN, BCLF-1, C3PO, REHF-1 |
Description
The TSN gene encodes translin, a highly conserved RNA-binding protein that forms a ring-shaped complex. Translin is involved in RNA metabolism, including mRNA transport, translation regulation, and microRNA processing. It also participates in the DNA damage response by binding to single-stranded DNA ends and promoting repair. Mutations and dysregulation of TSN have been implicated in various cancers and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of TSN affects RNA processing and DNA repair, promoting genomic instability | COSMIC, ClinVar |
| Neurodevelopmental disorders | TSN mutations may impair RNA transport in neurons, affecting synaptic function | OMIM, ClinVar |
| Spermatogenic failure | TSN is essential for spermatogenesis; mutations linked to male infertility | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | High |
| Brain | 8.5 | Medium |
| Lung | 6.1 | Medium |
| Liver | 4.3 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.4 | Cervical cancer cell line |
| HEK293 | 10.1 | Embryonic kidney cell line |
| K562 | 8.7 | Leukemia cell line |
| MCF7 | 7.3 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287A>G (p.Asn96Ser) | Missense | <0.01% | Altered RNA binding affinity |
| c.512C>T (p.Pro171Leu) | Missense | <0.01% | Reduced protein stability |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of translation initiation |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the RNA-binding domain reduce translin's ability to bind target mRNAs, impairing RNA processing and DNA repair.
Gain of Function (GOF)
Not reported in TSN.
Dominant Negative (DN)
Not reported in TSN.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • DNA binding |
| • single-stranded DNA binding | • mRNA binding |
| • nucleic acid binding | • cytoplasm |
| • nucleus | • ribonucleoprotein complex |
| • mRNA processing | • DNA repair |
Pathways
• MicroRNA biogenesis
• DNA damage response
• mRNA transport
Protein Summary
Translin is a 228-amino acid protein that forms a homomeric ring structure. It binds both RNA and single-stranded DNA, playing roles in RNA transport, translation regulation, and DNA repair. The protein is highly expressed in testis and brain, and its dysfunction is linked to cancer and neurological conditions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TSN Knockout HEK293 Cell Line | EDJ-KQ2336 | Human | 7247 | Details Get a Quote |
| TSNARE1 Knockout HEK293 Cell Line | EDJ-KQ5417 | Human | 203062 | Details Get a Quote |
| ITSN1 Knockout HEK293 Cell Line | EDJ-KQ5743 | Human | 6453 | Details Get a Quote |
| TSNAX Knockout HEK293 Cell Line | EDJ-KQ5971 | Human | 7257 | Details Get a Quote |
| ITSN2 Knockout HEK293 Cell Line | EDJ-KQ10784 | Human | 50618 | Details Get a Quote |
| TSNAXIP1 Knockout HEK293 Cell Line | EDJ-KQ15954 | Human | 55815 | Details Get a Quote |
| ITSN1 Knockout A-549 Cell Line | EDJ-KQ29145 | Human | 6453 | Details Get a Quote |
| ITSN1 Knockout HeLa Cell Line | EDJ-KQ29146 | Human | 6453 | Details Get a Quote |
| TSNAXIP1 Knockout A-549 Cell Line | EDJ-KQ46982 | Human | 55815 | Details Get a Quote |
| TSNAXIP1 Knockout HCT 116 Cell Line | EDJ-KQ46983 | Human | 55815 | Details Get a Quote |
| TSN Knockout A-549 Cell Line | EDJ-KQ22741 | Human | 7247 | Details Get a Quote |
| TSN Knockout HCT 116 Cell Line | EDJ-KQ22742 | Human | 7247 | Details Get a Quote |
| TSN Knockout HeLa Cell Line | EDJ-KQ22743 | Human | 7247 | Details Get a Quote |
| ITSN1 Knockout HCT 116 Cell Line | EDJ-KQ27888 | Human | 6453 | Details Get a Quote |
| TSNAX Knockout A-549 Cell Line | EDJ-KQ28264 | Human | 7257 | Details Get a Quote |
Displaying Records 1 To 15 Of 24 Records
