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

    Gene ID: 27886, updated on 23-Jun-2021

    Summary

    Official Symbol
    Ess2provided by MGI
    Official Full Name
    ess-2 splicing factorprovided by MGI
    Primary source
    MGI:MGI:107854
    See related
    Ensembl:ENSMUSG00000003527
    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
    Dg; ES; ES2; Dgsi; Dgcr1; Es2el; Dgcr14; AI462402; 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
    NEW
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    Genomic context

    See Ess2 in Genome Data Viewer
    Location:
    16 A3; 16 11.09 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109 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)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 16 NC_000082.5 (17900802..17911441, 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 goosecoid homebox 2 Neighboring gene solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

    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
     
    acts_upstream_of_or_within 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
    PubMed 
    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

    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)

    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_001081633.1NP_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
      Related
      ENSMUSP00000156085.2, ENSMUST00000232423.2
      Conserved Domains (1) summary
      pfam09751
      Location:37404
      Es2; Nuclear protein Es2
    2. NM_022408.2NP_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
      Related
      ENSMUSP00000003621.9, ENSMUST00000003621.10
      Conserved Domains (1) summary
      pfam09751
      Location:37405
      Es2; Nuclear protein Es2

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

    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_011245930.4XP_011244232.1  splicing factor ESS-2 homolog isoform X1

      See identical proteins and their annotated locations for XP_011244232.1

      Conserved Domains (1) summary
      pfam09751
      Location:25319
      Es2; Nuclear protein Es2
    2. XM_030249151.2XP_030105011.1  splicing factor ESS-2 homolog isoform X2

      Conserved Domains (1) summary
      pfam09751
      Location:1173
      Es2; Nuclear protein Es2
    3. XM_011245931.3XP_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:1173
      Es2; Nuclear protein Es2

    RNA

    1. XR_004939193.1 RNA Sequence

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