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

Gene ID: 27886, updated on 28-Oct-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 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. ESS2 controls prostate cancer progression through recruitment of chromodomain helicase DNA binding protein 1. Takahashi S, et al. Sci Rep, 2023 Jul 31. PMID 37524814, Free PMC Article
  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 (41) 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
involved_in mRNA splicing, via spliceosome ISO
Inferred from Sequence Orthology
more info
  
involved_in mRNA splicing, via spliceosome ISS
Inferred from Sequence or Structural Similarity
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

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