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    Ess2 ess-2 splicing factor [ Mus musculus (house mouse) ]

    Gene ID: 27886, updated on 12-May-2024

    Summary

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    Official Symbol
    Ess2provided by MGI
    Official Full Name
    ess-2 splicing factorprovided by MGI
    Primary source
    MGI:MGI:107854
    See related
    Ensembl:ENSMUSG00000003527 AllianceGenome:MGI:107854
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    ES2; Dgsi; Dgcr1; Es2el; Dgcr14; D16H22S1269E
    Summary
    The human ortholog of this gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of human chromosome band 22q11.2. The encoded protein localizes to the nucleus, and the orthologous protein in humans co-purifies with C complex spliceosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in whole brain E14.5 (RPKM 8.4), CNS E14 (RPKM 8.2) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ess2 in Genome Data Viewer
    Location:
    16 A3; 16 11.09 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (17718573..17729225, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (17900709..17911348, complement)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene testis-specific serine kinase 1 Neighboring gene testis-specific serine kinase 2 Neighboring gene STARR-positive B cell enhancer ABC_E762 Neighboring gene goosecoid homebox 2 Neighboring gene predicted gene, 56604

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. A region of mouse chromosome 16 is syntenic to the DiGeorge, velocardiofacial syndrome minimal critical region. Galili N, et al. Genome Res, 1997 Apr. PMID 9110179
    2. Transcriptional coregulator Ess2 controls survival of post-thymic CD4(+) T cells through the Myc and IL-7 signaling pathways. Takada I, et al. J Biol Chem, 2022 Sep. PMID 35933014, Free PMC Article
    3. Congenital heart disease in mice deficient for the DiGeorge syndrome region. Lindsay EA, et al. Nature, 1999 Sep 23. PMID 10517636
    4. Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region. Gong W, et al. Hum Mol Genet, 1997 Feb. PMID 9063747
    5. Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and Velocardiofacial syndromes conserved in C. elegans. Rizzu P, et al. Mamm Genome, 1996 Sep. PMID 8703114

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Transcriptional coregulator Ess2 controls survival of post-thymic CD4(+) T cells through the Myc and IL-7 signaling pathways.
      Title: Transcriptional coregulator Ess2 controls survival of post-thymic CD4(+) T cells through the Myc and IL-7 signaling pathways.
    2. results indicate that the absence of Gscl and Dgcr14 in the IP results in altered regulation of REM sleep
      Title: Loss of Goosecoid-like and DiGeorge syndrome critical region 14 in interpeduncular nucleus results in altered regulation of rapid eye movement sleep.
    3. The human ortholog of Es2el co-purifies with C-complex spliceosomes
      Title: Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (3)  1 citation

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    acts_upstream_of_or_within RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA splicing, via spliceosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in nervous system development IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of catalytic step 2 spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of catalytic step 2 spliceosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of spliceosomal complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    splicing factor ESS-2 homolog
    Names
    DiGeorge syndrome critical region gene 14
    DiGeorge syndrome critical region protein 14
    diGeorge syndrome critical region 14 homolog
    protein DGCR14

    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)

    1. NM_001081633.1 → NP_001075102.1  splicing factor ESS-2 homolog isoform 2

      See identical proteins and their annotated locations for NP_001075102.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. The resulting protein (isoform 2) is one aa shorter than isoform 1.
      Source sequence(s)
      AC078895
      Consensus CDS
      CCDS88893.1
      UniProtKB/Swiss-Prot
      O70279, Q91YX1
      UniProtKB/TrEMBL
      Q3UQ85
      Related
      ENSMUSP00000156085.2, ENSMUST00000232423.2
      Conserved Domains (1) summary
      pfam09751
      Location:37 → 404
      Es2; Nuclear protein Es2

    2. NM_022408.2 → NP_071853.2  splicing factor ESS-2 homolog isoform 1

      See identical proteins and their annotated locations for NP_071853.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC078895, AI853516, AK148404, BY069641
      Consensus CDS
      CCDS28013.1
      UniProtKB/TrEMBL
      Q3UFM6, Q3UQ85
      Related
      ENSMUSP00000003621.9, ENSMUST00000003621.10
      Conserved Domains (1) summary
      pfam09751
      Location:37 → 405
      Es2; Nuclear protein Es2

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000082.7 Reference GRCm39 C57BL/6J

      Range
      17718573..17729225 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011245930.4 → XP_011244232.1  splicing factor ESS-2 homolog isoform X1

      See identical proteins and their annotated locations for XP_011244232.1

      UniProtKB/TrEMBL
      Q3UQ85
      Conserved Domains (1) summary
      pfam09751
      Location:25 → 319
      Es2; Nuclear protein Es2

    2. XM_030249151.2 → XP_030105011.1  splicing factor ESS-2 homolog isoform X2

      Conserved Domains (1) summary
      pfam09751
      Location:1 → 173
      Es2; Nuclear protein Es2

    3. XM_011245931.3 → XP_011244233.1  splicing factor ESS-2 homolog isoform X2

      See identical proteins and their annotated locations for XP_011244233.1

      Conserved Domains (1) summary
      pfam09751
      Location:1 → 173
      Es2; Nuclear protein Es2

    RNA

    1. XR_004939193.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O70279.2 GenPept UniProtKB/Swiss-Prot:O70279

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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