SRRM2 serine/arginine repetitive matrix 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SRRM2provided by HGNC
Official Full Name: serine/arginine repetitive matrix 2provided by HGNC
Primary source: HGNC:HGNC:16639
See related: Ensembl:ENSG00000167978 MIM:606032; AllianceGenome:HGNC:16639
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CWF21; Cwc21; MRD72; 300-KD; SRL300; SRm300; HSPC075
Summary: 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]
Expression: Ubiquitous expression in spleen (RPKM 88.4), bone marrow (RPKM 86.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.3

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (2752638..2771412)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (2772853..2791630)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (2802639..2821413)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SRRM2 may be a potential biomarker and immunotherapy target for multiple myeloma: a real-world study based on flow cytometry detection.
Title: SRRM2 may be a potential biomarker and immunotherapy target for multiple myeloma: a real-world study based on flow cytometry detection.
SRRM2 organizes splicing condensates to regulate alternative splicing.
Title: SRRM2 organizes splicing condensates to regulate alternative splicing.
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
Title: Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
SON and SRRM2 are essential for nuclear speckle formation.
Title: SON and SRRM2 are essential for nuclear speckle formation.
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.
Title: 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.
cellular complexes comprising cactin, DHX8 and SRRM2 sustain precise chromosome segregation, genome stability and cell proliferation by allowing faithful splicing of specific pre-mRNAs.
Title: Human cactin interacts with DHX8 and SRRM2 to assure efficient pre-mRNA splicing and sister chromatid cohesion.
The S346F mutation in SRRM2 predisposes to papillary thyroid carcinoma by affecting alternative splicing of unidentified downstream target genes.
Title: A germline mutation in SRRM2, a splicing factor gene, is implicated in papillary thyroid carcinoma predisposition.
Data show that the consistent dysregulation of the RNA splicing factor SRRM2 in two different PD neuronal sources and in PD blood makes SRRM2 a strong candidate gene for PD and draws attention to the role of RNA splicing in the disease.
Title: SRRM2, a potential blood biomarker revealing high alternative splicing in Parkinson's disease.
results suggest multiple functions for Cwc21/SRm300 in the splicing process, including an important role in the activation of splicing in association with Isy1.
Title: A systematic characterization of Cwc21, the yeast ortholog of the human spliceosomal protein SRm300.
demonstrate that SRm300, the only serine arginine-related protein known to be at the core of human catalytic spliceosomes, is a functional ortholog of Cwc21p, also interacting directly with Prp8p and Snu114p.
Title: Physical and genetic interactions of yeast Cwc21p, an ortholog of human SRm300/SRRM2, suggest a role at the catalytic center of the spliceosome.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Intellectual developmental disorder, autosomal dominant 72 MedGen: C5830612 OMIM: 620439 GeneReviews: Not available	not available

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2024-02-13) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2024-02-13) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	gag	HIV-1 Gag interacts with SRRM2 as demonstrated by proximity dependent biotinylation proteomics	PubMed
Tat	tat	HIV-1 Tat is identified to have a physical interaction with serine/arginine repetitive matrix 2 (SRRM2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-61169 (e-PCR)
- UniSTS:69899

D16S439E (e-PCR)
- UniSTS:90639

MARC_7863-7864:996688108:1 (e-PCR)
- UniSTS:269840

D16S439E (e-PCR)
- UniSTS:147479

D16S2549E (e-PCR)
- UniSTS:151638

D16S2558E (e-PCR)
- UniSTS:151646

STS-M78867 (e-PCR)
- UniSTS:14719

D9S2087 (e-PCR)
- UniSTS:35199

RH92618 (e-PCR)
- UniSTS:85420

SHGC-61065 (e-PCR)
- UniSTS:15792

D16S436E (e-PCR)
- UniSTS:84936

SHGC-61375 (e-PCR)
- UniSTS:47051

SRRM2_9362 (e-PCR)
- UniSTS:471773

D16S436E (e-PCR)
- UniSTS:147429

Clone Names

FLJ21926, FLJ22250, KIAA0324, MGC40295, DKFZp667L0421, DKFZp686O15166

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables C2H2 zinc finger domain binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA binding	HDA more info	PubMed
enables mRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in mRNA splicing, via spliceosome	IC Inferred by Curator more info	PubMed
involved_in mRNA splicing, via spliceosome	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Cajal body	IDA Inferred from Direct Assay more info	PubMed
part_of U2-type catalytic step 2 spliceosome	IDA Inferred from Direct Assay more info	PubMed
part_of U2-type precatalytic spliceosome	IDA Inferred from Direct Assay more info	PubMed
part_of catalytic step 2 spliceosome	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear speck	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: serine/arginine repetitive matrix protein 2

Names: 300 kDa nuclear matrix antigen; RNA binding protein; SR-related nuclear matrix protein of 300 kDa; ser/Arg-related nuclear matrix protein of 300 kDa; serine/arginine-rich splicing factor-related nuclear matrix protein of 300 kDa; splicing coactivator subunit SRm300; tax-responsive enhancer element-binding protein 803; taxREB803; testicular secretory protein Li 53

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_016333.4 → NP_057417.3 serine/arginine repetitive matrix protein 2

See identical proteins and their annotated locations for NP_057417.3

Status: VALIDATED

Source sequence(s)

AB002322, AB016092, AC092117, AI083775

Consensus CDS

CCDS32373.1

UniProtKB/Swiss-Prot

A6NKB9, D3DU97, O15038, O94803, Q6NSL3, Q6PIM3, Q6PK40, Q8IW17, Q96GY7, Q9P0G1, Q9UHA8, Q9UQ35, Q9UQ36, Q9UQ37, Q9UQ38, Q9UQ40

UniProtKB/TrEMBL

A0A140VK53

Related

ENSP00000301740.8, ENST00000301740.13

Conserved Domains (4) summary

PHA03307
Location:293 → 600

PHA03307; transcriptional regulator ICP4; Provisional

PRK07003
Location:2195 → 2452

PRK07003; DNA polymerase III subunit gamma/tau

PRK14971
Location:313 → 411

PRK14971; DNA polymerase III subunit gamma/tau

cd21375
Location:39 → 102

cwf21_SRRM2; cwf21 domain found in serine/arginine repetitive matrix protein 2