TRA2B

Chr 3q27.2

transformer 2 beta homolog

Aliases:: Htra2-beta, PPP1R156
MANE:: ENST00000453386.7

OMIM: 602719 ↗NCBI: 6434 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TRA2B · P62995

v62025-08-01

Predicted Aligned Error matrix for TRA2B — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

57.6/ 100

Low

288 residues

Confidence breakdown

Very high(≥ 90)18%
Confident(70–90)11%
Low(50–70)19%
Very low(< 50)52%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe microcephaly
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

syndromic complex neurodevelopmental disorder
0.37
preeclampsia
0.31
Blindness
0.27
schizophrenia
0.26
Respiratory insufficiency
0.21
neurodevelopmental disorder
0.19
hereditary disease
0.18
type 2 diabetes mellitus
0.15
diabetic eye disease
0.13
diabetic retinopathy
0.13

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

Protein function (UniProt)

Transformer-2 protein homolog beta

Sequence-specific RNA-binding protein which participates in the control of pre-mRNA splicing. Can either activate or suppress exon inclusion. Acts additively with RBMX to promote exon 7 inclusion of the survival motor neuron SMN2. Activates the splicing of MAPT/Tau exon 10. Alters pre-mRNA splicing patterns by antagonizing the effects of splicing regulators, like RBMX. Binds to the AG-rich SE2 domain in the SMN exon 7 RNA. Binds to pre-mRNA