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

Gene ID: 8220, updated on 24-Nov-2020

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
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

Genomic context

See ESS2 in Genome Data Viewer
Location:
22q11.21; 22q11.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (19130279..19144726, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19117792..19132190, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene DiGeorge syndrome critical region gene 2 Neighboring gene ribosomal protein L28 pseudogene Neighboring gene testis specific serine kinase 1A (pseudogene) Neighboring gene uncharacterized LOC112268297 Neighboring gene testis specific serine kinase 2 Neighboring gene goosecoid homeobox 2 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
mRNA splicing, via spliceosome IC
Inferred by Curator
more info
PubMed 
nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
catalytic step 2 spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
catalytic step 2 spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
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)

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
    Q96DF8
    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: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    19130279..19144726 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005261282.4XP_005261339.1  splicing factor ESS-2 homolog isoform X1

    Conserved Domains (1) summary
    pfam09751
    Location:34402
    Es2; Nuclear protein Es2
  2. XM_017028958.1XP_016884447.1  splicing factor ESS-2 homolog isoform X3

    Conserved Domains (1) summary
    pfam09751
    Location:29322
    Es2; Nuclear protein Es2
  3. XM_006724329.3XP_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
  4. XM_006724331.3XP_006724394.1  splicing factor ESS-2 homolog isoform X3

    Related
    ENST00000472073.1
    Conserved Domains (1) summary
    pfam09751
    Location:29322
    Es2; Nuclear protein Es2
  5. XM_006724330.3XP_006724393.1  splicing factor ESS-2 homolog isoform X2

    See identical proteins and their annotated locations for XP_006724393.1

    Conserved Domains (1) summary
    pfam09751
    Location:69323
    Es2; Nuclear protein Es2
  6. XM_017028959.1XP_016884448.1  splicing factor ESS-2 homolog isoform X6

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

    Conserved Domains (1) summary
    pfam09751
    Location:34252
    Es2; Nuclear protein Es2
  8. XM_011530403.1XP_011528705.1  splicing factor ESS-2 homolog isoform X4

    UniProtKB/TrEMBL
    F8WEF8
    Related
    ENSP00000388524.1, ENST00000434568.5
    Conserved Domains (1) summary
    pfam09751
    Location:34281
    Es2; Nuclear protein Es2

RNA

  1. XR_002958714.1 RNA Sequence

  2. XR_937926.2 RNA Sequence

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