U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 8220, updated on 9-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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.

    Genomic

    1. NG_008320.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_022719.3NP_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:34397
      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_005261282.5XP_005261339.1  splicing factor ESS-2 homolog isoform X1

      Conserved Domains (1) summary
      pfam09751
      Location:34402
      Es2; Nuclear protein Es2
    2. XM_006724329.4XP_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:69323
      Es2; Nuclear protein Es2
    3. XM_011530404.3XP_011528706.1  splicing factor ESS-2 homolog isoform X5

      Conserved Domains (1) summary
      pfam09751
      Location:34252
      Es2; Nuclear protein Es2
    4. XM_047441524.1XP_047297480.1  splicing factor ESS-2 homolog isoform X4

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

      UniProtKB/TrEMBL
      F8WEF8
      Related
      ENSP00000388524.1, ENST00000434568.5
      Conserved Domains (1) summary
      pfam09751
      Location:34281
      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_054325973.1XP_054181948.1  splicing factor ESS-2 homolog isoform X1

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

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

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

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

      UniProtKB/TrEMBL
      F8WEF8