SNAPC3

Chr 9

small nuclear RNA activating complex polypeptide 3

Also known as: PTFbeta, SNAP50

NCBI Gene: 6619 ENSG00000164975 UniProt: Q92966 OMIM: 602348

The SNAPC3 protein is part of the SNAPc complex that binds to promoter sequences and is required for transcription of small nuclear RNA genes by both RNA polymerase II and III. Mutations cause autosomal recessive intellectual disability with seizures and macrocephaly, typically presenting in early childhood. This gene is not highly constrained against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable RNA polymerase III type 3 promoter sequence-specific DNA binding activity and bent DNA binding activity. Predicted to contribute to RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and core promoter sequence-specific DNA binding activity. Predicted to be involved in snRNA transcription by RNA polymerase II and snRNA transcription by RNA polymerase III. Located in nuclear body and nucleolus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.02

LOEUF

—

Mechanism