Identity
HGNC
LOCATION
18q23
LOCUSID
ALIAS
BMKS,DIB1,DIM1,SNRNP15,TXNL4,U5-15kD
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 10907
MIM: 611595
HGNC: 30551
Ensembl: ENSG00000141759
Variants:
dbSNP: 10907
ClinVar: 10907
TCGA: ENSG00000141759
COSMIC: TXNL4A
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34713892 | 2022 | Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome. | 3 |
| 34713892 | 2022 | Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome. | 3 |
| 32041777 | 2020 | The Renpenning syndrome-associated protein PQBP1 facilitates the nuclear import of splicing factor TXNL4A through the karyopherin β2 receptor. | 3 |
| 32187816 | 2020 | Burn-McKeown syndrome with biallelic promoter type 2 deletion in TXNL4A in two siblings. | 2 |
| 32041777 | 2020 | The Renpenning syndrome-associated protein PQBP1 facilitates the nuclear import of splicing factor TXNL4A through the karyopherin β2 receptor. | 3 |
| 32187816 | 2020 | Burn-McKeown syndrome with biallelic promoter type 2 deletion in TXNL4A in two siblings. | 2 |
| 28905882 | 2017 | Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia. | 4 |
| 28905882 | 2017 | Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia. | 4 |
| 27314904 | 2016 | Allosteric modulation of the binding affinity between PQBP1 and the spliceosomal protein U5-15kD. | 3 |
| 27314904 | 2016 | Allosteric modulation of the binding affinity between PQBP1 and the spliceosomal protein U5-15kD. | 3 |
| 25434003 | 2014 | Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. | 33 |
| 25434003 | 2014 | Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. | 33 |
| 20307692 | 2010 | Polyglutamine tract-binding protein-1 binds to U5-15kD via a continuous 23-residue segment of the C-terminal domain. | 4 |
| 20307692 | 2010 | Polyglutamine tract-binding protein-1 binds to U5-15kD via a continuous 23-residue segment of the C-terminal domain. | 4 |
| 17177886 | 2006 | Identification of human dim1 as a peptidase with autocleavage activity. | 1 |
Citation
Dessen P
TXNL4A (thioredoxin like 4A)
Atlas Genet Cytogenet Oncol Haematol. 2003-11-01
Online version: http://atlasgeneticsoncology.org/gene/42735/txnl4a
