SRRM2

Chr 16p13.3

serine/arginine repetitive matrix 2

Aliases:: SRm300, SRL300, KIAA0324, Cwc21
MANE:: ENST00000301740.13

OMIM: 606032 ↗NCBI: 23524 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SRRM2 · Q9UQ35-2isoform

No predicted structure exists for the canonical Q9UQ35 sequence; metrics below describe this isoform.

v62025-08-01

Predicted Aligned Error matrix for SRRM2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

36.3/ 100

Very low

2,334 residues

Confidence breakdown

Very high(≥ 90)2%
Confident(70–90)4%
Low(50–70)2%
Very low(< 50)93%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inherited non-medullary thyroid cancer
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

intellectual developmental disorder, autosomal dominant 72
0.73
neurodevelopmental disorder
0.55
hereditary disease
0.54
dengue disease
0.37
Seizure
0.27
Complex febrile seizure
0.27
status epilepticus
0.27
type 2 diabetes mellitus
0.16
Parkinson disease
0.10
cancer
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Serine/arginine repetitive matrix protein 2

Required for pre-mRNA splicing as component of the spliceosome. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable)