SRRM2 Gene

Name	serine/arginine repetitive matrix 2
Description	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. Biomarker of Parkinson's disease. [provided by Alliance of Genome Resources, Mar 2025]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nStudies in yeast have revealed that a small spliceosome‐associated protein, Cwc21p, is homologous to human SRRM2 (also known as SRm300), demonstrating an evolutionarily conserved role in splicing activation. Both Cwc21p and SRRM2 directly interact with key spliceosomal factors such as Prp8p, Snu114p, and Isy1, thereby contributing to the assembly and catalytic activity of the spliceosome and ensuring splicing fidelity."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n \n \nIn human cells, mutational studies have implicated SRRM2 in the regulation of alternative splicing. A germline heterozygous S346F mutation in SRRM2, identified in a papillary thyroid carcinoma family, promotes aberrant exon inclusion across numerous target transcripts, suggesting that precise SRRM2 function is essential to maintain balanced splice isoform distributions and that its disruption may predispose to oncogenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n \n \nSRRM2 also plays a pivotal structural role within the nucleus by organizing nuclear speckles—membrane‐less biomolecular condensates essential for splicing regulation. Its intrinsically disordered regions enable liquid–liquid phase separation, and, together with SON, SRRM2 forms the consolidating core of nuclear speckles. In this capacity, it promotes efficient recruitment of splicing machinery to nascent transcripts, a function underscored by its high evolutionary conservation and loss-of-function intolerance."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "7"}]}, {"type": "t", "text": "\n \n \nBeyond its roles in spliceosome assembly and nuclear speckle formation, SRRM2 participates in broader regulatory networks by interacting with other spliceosomal regulators such as cactin and DHX8. These interactions are critical for the correct splicing of specific pre-mRNAs whose proper processing is required for genome stability, cell proliferation, and the prevention of chromosomal segregation errors."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": "\n \n \nClinically, aberrations in SRRM2 expression have emerged as a potential biomarker in hematologic malignancies. In multiple myeloma, for example, SRRM2 is aberrantly expressed on plasma cells, and its elevated levels correlate with increased disease severity, unfavorable cytogenetic features, and poor treatment response, indicating that SRRM2 may serve both as a diagnostic marker and as an immunotherapeutic target."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "May Khanna, Harm Van Bakel, Xinyi Tang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A systematic characterization of Cwc21, the yeast ortholog of the human spliceosomal protein SRm300."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "RNA (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1261/rna.1790509"}], "href": "https://doi.org/10.1261/rna.1790509"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19789211"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19789211"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Richard J Grainger, J David Barrass, Alain Jacquier, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Physical and genetic interactions of yeast Cwc21p, an ortholog of human SRm300/SRRM2, suggest a role at the catalytic center of the spliceosome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "RNA (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1261/rna.1908309"}], "href": "https://doi.org/10.1261/rna.1908309"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19854871"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19854871"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Jerneja Tomsic, Huiling He, Keiko Akagi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A germline mutation in SRRM2, a splicing factor gene, is implicated in papillary thyroid carcinoma predisposition."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/srep10566"}], "href": "https://doi.org/10.1038/srep10566"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26135620"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26135620"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "İbrahim Avşar Ilik, Michal Malszycki, Anna Katharina Lübke, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SON and SRRM2 are essential for nuclear speckle formation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Elife (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.7554/eLife.60579"}], "href": "https://doi.org/10.7554/eLife.60579"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33095160"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33095160"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Soudabeh Fazeli, Majid Motovali-Bashi, Maryam Peymani, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A compound downregulation of SRRM2 and miR-27a-3p with upregulation of miR-27b-3p in PBMCs of Parkinson's patients is associated with the early stage onset of disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0240855"}], "href": "https://doi.org/10.1371/journal.pone.0240855"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33171483"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33171483"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Silvestre Cuinat, Mathilde Nizon, Bertrand Isidor, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genet Med (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.gim.2022.04.011"}], "href": "https://doi.org/10.1016/j.gim.2022.04.011"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35567594"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35567594"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Shaohai Xu, Soak-Kuan Lai, Donald Yuhui Sim, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SRRM2 organizes splicing condensates to regulate alternative splicing."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nucleic Acids Res (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/nar/gkac669"}], "href": "https://doi.org/10.1093/nar/gkac669"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35929045"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35929045"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Isabella M Y Zanini, Charlotte Soneson, Luca E Lorenzi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Human cactin interacts with DHX8 and SRRM2 to assure efficient pre-mRNA splicing and sister chromatid cohesion."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Sci (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/jcs.194068"}], "href": "https://doi.org/10.1242/jcs.194068"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28062851"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28062851"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Jinjing Guo, Zhiye Zhang, Huiping Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SRRM2 may be a potential biomarker and immunotherapy target for multiple myeloma: a real-world study based on flow cytometry detection."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Exp Med (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10238-023-01272-1"}], "href": "https://doi.org/10.1007/s10238-023-01272-1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "38289482"}], "href": "https://pubmed.ncbi.nlm.nih.gov/38289482"}]}]}]}
Synonyms	SRM300, CWC21, CWF21, SRL300, 300-KD, HSPC075
Proteins	SRRM2_HUMAN
NCBI Gene ID	23524
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

SRRM2 has 15,738 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 125 datasets.

Click the + buttons to view associations for SRRM2 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

SRRM2 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by SRRM2 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of SRRM2 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of SRRM2 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of SRRM2 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of SRRM2 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of SRRM2 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of SRRM2 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of SRRM2 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of SRRM2 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of SRRM2 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of SRRM2 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of SRRM2 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with SRRM2 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with SRRM2 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of SRRM2 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of SRRM2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of SRRM2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with SRRM2 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing SRRM2 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of SRRM2 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing SRRM2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing SRRM2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing SRRM2 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing SRRM2 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with SRRM2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with SRRM2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing SRRM2 protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with SRRM2 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with SRRM2 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with SRRM2 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of SRRM2 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by SRRM2 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with SRRM2 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with SRRM2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with SRRM2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with SRRM2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with SRRM2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at SRRM2 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of SRRM2 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of SRRM2 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.