TXNL4A

Chr 18q23

thioredoxin like 4A

Aliases:: U5-15kD, DIM1, HsT161, DIB1, SNRNP15
MANE:: ENST00000269601.10

OMIM: 611595 ↗NCBI: 10907 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TXNL4A · P83876

v62025-08-01

Predicted Aligned Error matrix for TXNL4A — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

88.6/ 100

Confident

142 residues

Confidence breakdown

Very high(≥ 90)72%
Confident(70–90)22%
Low(50–70)3%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Choanal atresia
BIALLELIC, autosomal or pseudoautosomal
Clefting
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Choanal atresia-deafness-cardiac defects-dysmorphism syndrome
0.76
choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
0.74
cleft palate
0.37
dengue disease
0.37
hereditary disease
0.18
neurodegenerative disease
0.17
hepatocellular carcinoma
0.08
colorectal carcinoma
0.07
choanal atresia
0.02
response to isoquinoline alkaloid
0.02

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Thioredoxin-like protein 4A

Plays a role in pre-mRNA splicing as component of the U5 snRNP and U4/U6-U5 tri-snRNP complexes that are involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex)