SNAPC4

Chr 9AR

small nuclear RNA activating complex polypeptide 4

Also known as: NEDRSO, PTFalpha, SNAP190

NCBI Gene: 6621 ENSG00000165684 UniProt: Q5SXM2 OMIM: 602777

The protein is the largest subunit of the small nuclear RNA-activating protein (SNAPc) complex that binds to promoter elements and is essential for RNA polymerase II and III transcription of small nuclear RNA genes. Mutations cause ankylosing spondylitis, which follows autosomal dominant inheritance and primarily affects the spine and sacroiliac joints. The gene shows no significant constraint against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes the largest subunit of the small nuclear RNA-activating protein (SNAP) complex. The encoded protein contains a Myb DNA-binding domain, and is essential for RNA polymerase II and III polymerase transcription from small nuclear RNA promoters. A mutation in this gene is associated with ankylosing spondylitis. [provided by RefSeq, Jul 2016]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunctionMIM #620515

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.98

LOEUF

LOF

Mechanism· G2P