TXNL4B
Thioredoxin-Like 4B Gene
Gene Information Card
| Symbol | TXNL4B |
|---|---|
| Full Name | Thioredoxin-Like 4B |
| Gene Type | Protein coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 54957 ncbi.nlm.nih.gov/gene/54957 |
| Ensembl ID | ENSG00000140987 |
| UniProt ID | Q9NX46 |
| OMIM ID | 611218 |
| HGNC ID | 25952 |
| Aliases | DIM1, DIM1L, DIMT1L, TXNL4 |
Description
TXNL4B encodes a thioredoxin-like protein that is a component of the U5 small nuclear ribonucleoprotein (snRNP) complex, involved in pre-mRNA splicing. The protein contains a thioredoxin domain and is essential for spliceosome assembly and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not applicable | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Spleen | 11.5 | Medium |
| Bone marrow | 10.9 | Medium |
| Brain | 8.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.5 | High expression |
| HeLa | 14.2 | Medium expression |
| K562 | 12.1 | Medium expression |
| HepG2 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations documented in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
| • mRNA splicing (GO:0000398) | • spliceosomal complex (GO:0005681) |
| • protein binding (GO:0005515) | • protein transport (GO:0015031) |
| • protein disulfide oxidoreductase activity (GO:0015035) |
Pathways
• hsa03040 - Spliceosome (KEGG)
• R-HSA-72163 - mRNA Splicing - Major Pathway (Reactome)
Protein Summary
TXNL4B is a 142-amino acid protein (16 kDa) with a thioredoxin-like fold. It localizes to the nucleus and is a stable component of the U5 snRNP, interacting with other spliceosomal proteins to facilitate pre-mRNA splicing. The protein is ubiquitously expressed with highest levels in testis and lymphoid tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
