SRRM2 Gene Summary [Human]
Enables C2H2 zinc finger domain binding activity and protein N-terminus 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. Biomarker of Parkinson's disease. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | SRRM2 |
| Official Name | serine/arginine repetitive matrix 2 [Source:HGNC Symbol;Acc:HGNC:16639] |
| Ensembl ID | ENSG00000167978 |
| Bio databases IDs | |
| Aliases | serine/arginine repetitive matrix 2 |
| Synonyms | 5033413A03Rik, AA410130, Cwc21, CWF21, HSPC075, KIAA0324, mKIAA0324, MRD72, serine/arginine repetitive matrix 2, Similar to srm300, SRL300, SRm300 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SRRM2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- cwf21 domain
- protein domain specific binding
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Parkinson disease
- neurodevelopmental disorder
- hereditary disorder
- autosomal dominant intellectual developmental disorder type 72
- Hutchinson-Gilford progeria syndrome
- paroxysmal nocturnal hemoglobinuria
- preeclampsia
- salivary duct carcinoma
- salivary duct cancer
- venous thromboembolism
regulates
- pPIP85.A
role in cell
- replication in
- splicing by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- catalytic step 2 spliceosome
- ribosome
- spliceosomes
- nucleoplasm
- interchromatin granule clusters
- nuclear speckles
- Cajal bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SRRM2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- nuclear mRNA splicing, via spliceosome
Cellular Component
Where in the cell the gene product is active
- nucleus
- catalytic step 2 spliceosome
- nuclear speck
- Cajal body
- U2-type catalytic step 2 spliceosome
- U2-type precatalytic spliceosome
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA binding
- C2H2 zinc finger domain binding
- mRNA binding