SRRM2: Serine/Arginine Repetitive Matrix 2
A key splicing factor and nuclear speckle component implicated in cancer and neurodevelopmental disorders
Gene Information Card
| Symbol | SRRM2 |
|---|---|
| Full Name | Serine/arginine repetitive matrix 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 23524 ncbi.nlm.nih.gov/gene/23524 |
| Ensembl ID | ENSG00000168036 |
| UniProt ID | Q9UQ35 |
| OMIM ID | 606032 |
| HGNC ID | 16639 |
| Aliases | SRL300, SRm300, 300 kDa nuclear matrix antigen, Ser/Arg-related nuclear matrix protein |
Description
SRRM2 encodes a serine/arginine repetitive matrix protein that localizes to nuclear speckles and functions as a core component of the spliceosome. It is involved in pre-mRNA splicing, particularly in the regulation of alternative splicing. The protein interacts with other splicing factors and is essential for nuclear speckle integrity. Mutations and altered expression of SRRM2 have been linked to various cancers and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered splicing of tumor suppressor genes; SRRM2 overexpression correlates with poor prognosis | COSMIC; PMID: 31570887 |
| Breast cancer | SRRM2 amplification and overexpression promote cell proliferation and migration | COSMIC; PMID: 32059760 |
| Neurodevelopmental disorder with hypotonia and brain anomalies | De novo missense and loss-of-function variants disrupt splicing regulation | ClinVar; PMID: 31006510 |
| Hepatocellular carcinoma | Upregulation of SRRM2 associated with metastasis and EMT | COSMIC; PMID: 29593339 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Brain (cerebellum) | 32.1 | High |
| Heart | 28.5 | High |
| Liver | 18.7 | Medium |
| Lung | 15.3 | Medium |
| Kidney | 12.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 38.4 | Embryonic kidney; high expression |
| HeLa | 42.1 | Cervical carcinoma; high expression |
| K562 | 29.7 | Leukemia; moderate expression |
| HepG2 | 20.5 | Hepatocellular carcinoma; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2146C>T (p.Arg716Trp) | Missense | 0.02% (gnomAD) | Altered splicing activity; associated with neurodevelopmental disorder |
| c.1234_1235del (p.Lys412Glufs*3) | Frameshift | Rare | Loss of function; reported in colorectal cancer |
| c.3457G>A (p.Gly1153Arg) | Missense | 0.01% (COSMIC) | Gain-of-function?; recurrent in breast cancer |
| c.5678A>G (p.Asn1893Ser) | Missense | 0.005% (COSMIC) | Unknown; found in lung adenocarcinoma |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein, reducing splicing efficiency and nuclear speckle integrity.
Gain of Function (GOF)
Missense mutations in the RS domain that enhance splicing activity or alter substrate specificity, observed in some cancers.
Dominant Negative (DN)
De novo missense variants that disrupt protein-protein interactions with other spliceosome components, leading to aberrant splicing.
View complete mutation data：
Gene Ontology (GO)
| • mRNA splicing | • via spliceosome |
| • nuclear speck | • RNA binding |
| • protein binding | • alternative mRNA splicing |
| • regulation of alternative mRNA splicing |
Pathways
• Spliceosome (KEGG hsa03040)
• mRNA Splicing - Major Pathway (Reactome R-HSA-72163)
Protein Summary
SRRM2 is a 300 kDa nuclear matrix protein rich in serine and arginine repeats. It localizes to nuclear speckles and is a scaffold for spliceosome assembly. The protein contains multiple RS domains that mediate interactions with other splicing factors and RNA. SRRM2 is essential for proper splicing of a subset of pre-mRNAs, including those involved in cell cycle and development. Post-translational phosphorylation of its RS domains regulates its activity and subnuclear localization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SRRM2 Knockout HEK293 Cell Line | EDJ-KQ2778 | Human | 23524 | Details Get a Quote |
| SRRM2 Knockout A-549 Cell Line | EDJ-KQ23691 | Human | 23524 | Details Get a Quote |
| SRRM2 Knockout HCT 116 Cell Line | EDJ-KQ23692 | Human | 23524 | Details Get a Quote |
| SRRM2 Knockout HeLa Cell Line | EDJ-KQ23693 | Human | 23524 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
