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

Gene ID: 8220, updated on 2-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 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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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 molecular_function ND
No biological Data available
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 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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