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    ESS2 ess-2 splicing factor homolog [ Homo sapiens (human) ]

    Gene ID: 8220, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ESS2provided by HGNC
    Official Full Name
    ess-2 splicing factor homologprovided by HGNC
    Primary source
    HGNC:HGNC:16817
    See related
    Ensembl:ENSG00000100056 MIM:601755; AllianceGenome:HGNC:16817
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ES2; DGSH; DGSI; bis1; DGS-H; DGS-I; ESS-2; Es2el; DGCR13; DGCR14
    Summary
    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 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
    Expression
    Broad expression in testis (RPKM 19.7), bone marrow (RPKM 2.7) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ESS2 in Genome Data Viewer
    Location:
    22q11.21; 22q11.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (19130279..19144651, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (19504893..19519192, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19117792..19132164, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene DiGeorge syndrome critical region gene 2 Neighboring gene uncharacterized LOC124905078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19093647-19094147 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13452 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19097371-19097873 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19097874-19098375 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19101726-19102620 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:19109284-19109785 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13454 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62558 Neighboring gene testis specific serine kinase 1A (pseudogene) Neighboring gene uncharacterized LOC112268297 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19131233-19131739 Neighboring gene testis specific serine kinase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19136757-19137256 Neighboring gene goosecoid homeobox 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19156355-19157292 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:19159167-19160103 Neighboring gene long intergenic non-protein coding RNA 1311

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Ess2 bridges transcriptional regulators and spliceosomal complexes via distinct interacting domains. Takada I, et al. Biochem Biophys Res Commun, 2018 Mar 4. PMID 29454968
    2. Transmission disequilibrium test provides evidence of association between promoter polymorphisms in 22q11 gene DGCR14 and schizophrenia. Wang H, et al. J Neural Transm (Vienna), 2006 Oct. PMID 16432632
    3. DGCR14 induces Il17a gene expression through the RORγ/BAZ1B/RSKS2 complex. Takada I. Mol Cell Biol, 2015 Jan. PMID 25368387, Free PMC Article
    4. A transcription map in the CATCH22 critical region: identification, mapping, and ordering of four novel transcripts expressed in heart. Lindsay EA, et al. Genomics, 1996 Feb 15. PMID 8786095
    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 (81) 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. Experiments using Ess2 deletion mutants showed that a C-terminus deletion mutant of Ess2 (1-399 a. a.) lost its ability to associate with snRNAs, whereas the N-terminus domain of Ess2 (1-200 a. a.) associated with retinoic acid receptor-related orphan receptor gamma/gamma-t, but not with snRNAs.
      Title: Ess2 bridges transcriptional regulators and spliceosomal complexes via distinct interacting domains.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction

    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
    Velocardiofacial syndrome
    MedGen: C0220704 OMIM: 192430 GeneReviews: 22q11.2 Deletion Syndrome
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nervous system development ISS
    Inferred from Sequence or Structural Similarity
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    splicing factor ESS-2 homolog
    Names
    DiGeorge syndrome critical region gene 13
    DiGeorge syndrome critical region gene 14
    DiGeorge syndrome critical region gene DGSI
    DiGeorge syndrome gene H
    DiGeorge syndrome gene I
    Protein DGCR13
    diGeorge syndrome protein H
    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.

    Genomic

    1. NG_008320.1 RefSeqGene

      Range
      5027..19399
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_022719.3 → NP_073210.1  splicing factor ESS-2 homolog

      See identical proteins and their annotated locations for NP_073210.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the protein-coding transcript.
      Source sequence(s)
      BC003015, BC069275, BM545545, DB090071, L77565
      Consensus CDS
      CCDS13756.1
      UniProtKB/Swiss-Prot
      Q49AH7, Q96DF8, Q9BTZ4
      Related
      ENSP00000252137.6, ENST00000252137.11
      Conserved Domains (1) summary
      pfam09751
      Location:34 → 397
      Es2; Nuclear protein Es2

    RNA

    1. NR_134304.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the mid-region compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC003015, BC069275, BM545545, BX419278, BX428458, DB090071, L77565

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      19130279..19144651 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005261282.5 → XP_005261339.1  splicing factor ESS-2 homolog isoform X1

      Conserved Domains (1) summary
      pfam09751
      Location:34 → 402
      Es2; Nuclear protein Es2

    2. XM_006724329.4 → XP_006724392.1  splicing factor ESS-2 homolog isoform X2

      See identical proteins and their annotated locations for XP_006724392.1

      Conserved Domains (1) summary
      pfam09751
      Location:69 → 323
      Es2; Nuclear protein Es2

    3. XM_011530404.3 → XP_011528706.1  splicing factor ESS-2 homolog isoform X5

      Conserved Domains (1) summary
      pfam09751
      Location:34 → 252
      Es2; Nuclear protein Es2

    4. XM_047441524.1 → XP_047297480.1  splicing factor ESS-2 homolog isoform X4

    5. XM_011530403.2 → XP_011528705.1  splicing factor ESS-2 homolog isoform X3

      UniProtKB/TrEMBL
      F8WEF8
      Related
      ENSP00000388524.1, ENST00000434568.5
      Conserved Domains (1) summary
      pfam09751
      Location:34 → 281
      Es2; Nuclear protein Es2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      19504893..19519192 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325973.1 → XP_054181948.1  splicing factor ESS-2 homolog isoform X1

    2. XM_054325974.1 → XP_054181949.1  splicing factor ESS-2 homolog isoform X2

    3. XM_054325977.1 → XP_054181952.1  splicing factor ESS-2 homolog isoform X5

    4. XM_054325976.1 → XP_054181951.1  splicing factor ESS-2 homolog isoform X4

    5. XM_054325975.1 → XP_054181950.1  splicing factor ESS-2 homolog isoform X3

      UniProtKB/TrEMBL
      F8WEF8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96DF8.1 GenPept UniProtKB/Swiss-Prot:Q96DF8

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