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

    Gene ID: 23524, updated on 9-Dec-2024

    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. 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, Dec 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 88.4), bone marrow (RPKM 86.9) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SRRM2 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (2752638..2771412)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (2772853..2791630)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (2802639..2821413)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7066 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7067 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7068 Neighboring gene serine protease 27 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2770495-2771062 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7070 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:2772439-2772608 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2788581-2789158 Neighboring gene SRRM2 antisense RNA 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr16:2801519-2802361 and GRCh37_chr16:2802362-2803204 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2803205-2804047 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:2807529-2808728 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2819013-2819715 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2819716-2820419 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2820420-2821122 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:2823070-2823222 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7073 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10283 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2828259-2829193 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2829194-2830127 Neighboring gene elongin B Neighboring gene serine protease 33

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    HIV-1 interactions

    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

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 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

    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)

    NEW Try the new Transcript table

    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)

    1. NM_016333.4NP_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:293600
      PHA03307; transcriptional regulator ICP4; Provisional
      PRK07003
      Location:21952452
      PRK07003; DNA polymerase III subunit gamma/tau
      PRK14971
      Location:313411
      PRK14971; DNA polymerase III subunit gamma/tau
      cd21375
      Location:39102
      cwf21_SRRM2; cwf21 domain found in serine/arginine repetitive matrix protein 2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      2752638..2771412
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047433882.1XP_047289838.1  serine/arginine repetitive matrix protein 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      2772853..2791630
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379978.1XP_054235953.1  serine/arginine repetitive matrix protein 2 isoform X1