SRRM2

Chr 16

serine/arginine repetitive matrix 2

Also known as: 300-KD, CWF21, Cwc21, HSPC075, MRD72, SRL300, SRm300

NCBI Gene: 23524 ENSG00000167978 UniProt: Q9UQ35

The protein is required for pre-mRNA splicing as a component of both major and minor spliceosomes, participating in the removal of introns from pre-mRNAs. Mutations cause intellectual developmental disorder, autosomal dominant 72, following an autosomal dominant inheritance pattern. The gene is highly constrained against loss-of-function mutations (pLI ~1.0, LOEUF 0.118), indicating that functional copies are essential for normal development.

ResearchSummary from RefSeq, OMIM, UniProt

Enables C2H2 zinc finger domain binding activity. Involved in mRNA splicing, via spliceosome. Located in Cajal body and nuclear speck. Part of U2-type catalytic step 2 spliceosome and U2-type precatalytic spliceosome. Implicated in autosomal dominant intellectual developmental disorder 72. Biomarker of Parkinson's disease. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder, autosomal dominant 72

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.12

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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