TRA2B

Chr 3

transformer 2 beta homolog

Also known as: Htra2-beta, PPP1R156, RAMELN, SFRS10, SRFS10, TRA2-BETA, TRAN2B

NCBI Gene: 6434 ENSG00000136527 UniProt: P62995

The protein functions as a sequence-specific serine/arginine splicing factor that controls pre-mRNA splicing by either activating or suppressing exon inclusion, including regulation of the survival motor neuron SMN2 gene. Mutations cause autosomal dominant developmental delay with or without dysmorphic facies and autism. This gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.

ResearchSummary from RefSeq, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtRamond-Elliott neurodevelopmental syndrome

Clinical highlights

Gene-disease validity (ClinGen)

syndromic complex neurodevelopmental disorder · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.25

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429