TRA2B Chromosome 3

Transformer 2 beta homolog

1 variant 1 Health Risk

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What This Gene Does

This gene encodes a nuclear protein which functions as sequence-specific serine/arginine splicing factor which plays a role in mRNA processing, splicing patterns, and gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

Gene Info

Gene Group

"Protein phosphatase 1 regulatory subunits|RNA binding motif containing"

Locus Type

gene with protein product

Location

3q27.2

Ensembl

ENSG00000136527

Associated Conditions (2)

TRA2B-associated epileptic encephalopathy

RAMOND-ELLIOTT NEURODEVELOPMENTAL SYNDROME

Key Variants

RS2473753535

Pathogenic

TRA2B-associated epileptic encephalopathy, RAMOND-ELLIOTT NEURODEVELOPMENTAL SYNDROME, TRA2B-associated epileptic encephalopathy

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS2473753535	Health Risk	Pathogenic	TRA2B-associated epileptic encephalopathy, RAMOND-ELLIOTT NEURODEVELOPMENTAL SYNDROME, TRA2B-associated epileptic encephalopathy