TXNL4A (thioredoxin like 4A)

2003-11-01  

Identity

HGNC
TXNL4A
LOCATION
18q23
LOCUSID
10907
ALIAS
BMKS,DIB1,DIM1,SNRNP15,TXNL4,U5-15kD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10907
MIM: 611595
HGNC: 30551
Ensembl: ENSG00000141759

Variants:

dbSNP: 10907
ClinVar: 10907
TCGA: ENSG00000141759
COSMIC: TXNL4A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000141759ENST00000269601P83876
ENSG00000141759ENST00000355491O14835
ENSG00000141759ENST00000585474K7ESL1
ENSG00000141759ENST00000585769K7EPA6
ENSG00000141759ENST00000586295K7EMX5
ENSG00000141759ENST00000586825K7EPA6
ENSG00000141759ENST00000588162K7EJU2
ENSG00000141759ENST00000591711K7ES07
ENSG00000141759ENST00000592837K7ESL1
ENSG00000141759ENST00000592957K7ESL1

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Spliceosome, U4/U6.U5 tri-snRNPKEGGhsa_M00354
Spliceosome, U4/U6.U5 tri-snRNPKEGGM00354
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163
mRNA Splicing - Minor PathwayREACTOMER-HSA-72165

References

Pubmed IDYearTitleCitations
347138922022Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome.3
347138922022Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome.3
320417772020The Renpenning syndrome-associated protein PQBP1 facilitates the nuclear import of splicing factor TXNL4A through the karyopherin β2 receptor.3
321878162020Burn-McKeown syndrome with biallelic promoter type 2 deletion in TXNL4A in two siblings.2
320417772020The Renpenning syndrome-associated protein PQBP1 facilitates the nuclear import of splicing factor TXNL4A through the karyopherin β2 receptor.3
321878162020Burn-McKeown syndrome with biallelic promoter type 2 deletion in TXNL4A in two siblings.2
289058822017Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia.4
289058822017Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia.4
273149042016Allosteric modulation of the binding affinity between PQBP1 and the spliceosomal protein U5-15kD.3
273149042016Allosteric modulation of the binding affinity between PQBP1 and the spliceosomal protein U5-15kD.3
254340032014Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.33
254340032014Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.33
203076922010Polyglutamine tract-binding protein-1 binds to U5-15kD via a continuous 23-residue segment of the C-terminal domain.4
203076922010Polyglutamine tract-binding protein-1 binds to U5-15kD via a continuous 23-residue segment of the C-terminal domain.4
171778862006Identification 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