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Aliases for ESS2 Gene

Aliases for ESS2 Gene

  • Ess-2 Splicing Factor Homolog 2 3 5
  • DiGeorge Syndrome Critical Region Gene 13 2 3
  • DiGeorge Syndrome Critical Region Gene 14 2 3
  • DiGeorge Syndrome Protein H 3 4
  • DGCR13 3 4
  • DGCR14 3 4
  • DGS-H 3 4
  • DGSH 3 4
  • DGSI 3 4
  • ES2 3 4
  • DiGeorge Syndrome Critical Region Gene DGSI 3
  • DiGeorge Syndrome Critical Region 13 4
  • DiGeorge Syndrome Critical Region 14 4
  • Splicing Factor ESS-2 Homolog 3
  • DiGeorge Syndrome Gene H 3
  • DiGeorge Syndrome Gene I 3
  • Protein DGCR13 3
  • Protein DGCR14 3
  • Protein ES2 4
  • DGS-I 3
  • ESS-2 3
  • Es2el 3
  • Bis1 3

External Ids for ESS2 Gene

Previous HGNC Symbols for ESS2 Gene

  • DGCR13
  • DGCR14

Summaries for ESS2 Gene

Entrez Gene Summary for ESS2 Gene

  • 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]

GeneCards Summary for ESS2 Gene

ESS2 (Ess-2 Splicing Factor Homolog) is a Protein Coding gene. Diseases associated with ESS2 include Velocardiofacial Syndrome and Digeorge Syndrome.

UniProtKB/Swiss-Prot for ESS2 Gene

  • May be involved in pre-mRNA splicing.

Gene Wiki entry for ESS2 Gene

Additional gene information for ESS2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ESS2 Gene

Genomics for ESS2 Gene

GeneHancer (GH) Regulatory Elements for ESS2 Gene

Promoters and enhancers for ESS2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J019143 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 673.9 +0.3 322 1.9 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A ZNF2 YY1 POLR2B ZNF766 ESS2 DGCR8 TRMT2A RPL8P5 RPL7AP70 ENSG00000273300 LINC01311 ENSG00000223461 DGCR2 UFD1
GH22J019169 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 25.8 -30.0 -29967 11.2 CLOCK MLX FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 ZNF263 SP3 SLC25A1 ESS2 TRMT2A CLTCL1 GSC2 TSSK2 TSSK1A DGCR2 ENSG00000223461 UFD1
GH22J019289 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 18.8 -146.5 -146451 3.8 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A ZNF2 ZBTB7B YY1 CLTCL1 LOC105372859 TRMT2A LINC01311 DGCR8 RANBP1 ESS2 SLC25A1 ZDHHC8 GC22M019285
GH22J019429 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 18.8 -287.0 -287048 4.7 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 ZNF263 MRPL40 HIRA TRMT2A DGCR8 UFD1 LINC01311 RPL7AP70 ENSG00000273300 RPL8P5 ESS2
GH22J020114 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 18.6 -972.5 -972520 4.6 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 ZNF263 TRMT2A RANBP1 LZTR1 MED15 DGCR8 THAP7-AS1 ZDHHC8 RPL7AP70 TUBA3GP LINC01311
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ESS2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ESS2 Gene

Genomic Locations for ESS2 Gene
14,448 bases
Minus strand
14,406 bases
Minus strand

Genomic View for ESS2 Gene

Genes around ESS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ESS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ESS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ESS2 Gene

Proteins for ESS2 Gene

  • Protein details for ESS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Splicing factor ESS-2 homolog
    Protein Accession:
    Secondary Accessions:
    • Q49AH7
    • Q9BTZ4

    Protein attributes for ESS2 Gene

    476 amino acids
    Molecular mass:
    52568 Da
    Quaternary structure:
    • Identified in the spliceosome C complex.

neXtProt entry for ESS2 Gene

Post-translational modifications for ESS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ESS2 Gene

Domains & Families for ESS2 Gene

Gene Families for ESS2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ESS2 Gene


Suggested Antigen Peptide Sequences for ESS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ESS2 family.
  • Belongs to the ESS2 family.
genes like me logo Genes that share domains with ESS2: view

Function for ESS2 Gene

Molecular function for ESS2 Gene

UniProtKB/Swiss-Prot Function:
May be involved in pre-mRNA splicing.

Phenotypes From GWAS Catalog for ESS2 Gene

Gene Ontology (GO) - Molecular Function for ESS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 22365833
genes like me logo Genes that share ontologies with ESS2: view
genes like me logo Genes that share phenotypes with ESS2: view

Human Phenotype Ontology for ESS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ESS2 Gene

MGI Knock Outs for ESS2:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ESS2 Gene

Localization for ESS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ESS2 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ESS2 gene
Compartment Confidence
nucleus 5
mitochondrion 2
extracellular 1
cytoskeleton 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ESS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,ISS 8703114
GO:0005681 spliceosomal complex IEA --
GO:0071013 catalytic step 2 spliceosome IDA 11991638
genes like me logo Genes that share ontologies with ESS2: view

Pathways & Interactions for ESS2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ESS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome IC 11991638
GO:0006397 mRNA processing IEA --
GO:0007399 nervous system development ISS 8703114
GO:0008380 RNA splicing IEA --
genes like me logo Genes that share ontologies with ESS2: view

No data available for Pathways by source and SIGNOR curated interactions for ESS2 Gene

Drugs & Compounds for ESS2 Gene

No Compound Related Data Available

Transcripts for ESS2 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ESS2 Gene

No ASD Table

Relevant External Links for ESS2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ESS2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ESS2 Gene:


mRNA Expression by UniProt/SwissProt for ESS2 Gene:

Tissue specificity: Highly expressed in heart, brain and skeletal muscle. Detected at low levels in placenta.

Evidence on tissue expression from TISSUES for ESS2 Gene

  • Lung(4.4)
  • Heart(4.3)
  • Nervous system(3.6)
  • Muscle(2.1)
  • Intestine(2)

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ESS2 Gene

Orthologs for ESS2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ESS2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DGCR14 34 33
  • 99.44 (n)
(Canis familiaris)
Mammalia DGCR14 34 33
  • 88.59 (n)
(Bos Taurus)
Mammalia DGCR14 34 33
  • 86.55 (n)
(Rattus norvegicus)
Mammalia Dgcr14 33
  • 86.55 (n)
(Mus musculus)
Mammalia Dgcr14 34 33
  • 85.99 (n)
Ess2 16
(Monodelphis domestica)
Mammalia DGCR14 34
  • 78 (a)
(Gallus gallus)
Aves DGCR14 34 33
  • 69.02 (n)
(Anolis carolinensis)
Reptilia DGCR14 34
  • 73 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dgcr14 33
  • 64.95 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15714 33
(Danio rerio)
Actinopterygii dgcr14 34 33
  • 65.75 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3946 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001347 33
  • 50.28 (n)
fruit fly
(Drosophila melanogaster)
Insecta Es2 34 33
  • 49.44 (n)
(Caenorhabditis elegans)
Secernentea ess-2 34 33
  • 46.8 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G07790 33
  • 45.13 (n)
(Oryza sativa)
Liliopsida Os06g0502900 33
  • 45.99 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03822 33
  • 43.48 (n)
Species where no ortholog for ESS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ESS2 Gene

Gene Tree for ESS2 (if available)
Gene Tree for ESS2 (if available)
Evolutionary constrained regions (ECRs) for ESS2: view image

Paralogs for ESS2 Gene

No data available for Paralogs for ESS2 Gene

Variants for ESS2 Gene

Sequence variations from dbSNP and Humsavar for ESS2 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000008133 -- 19,137,016(-) A/G downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000245173 -- 19,136,199(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000322876 -- 19,131,568(-) C/G 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000493130 -- 19,140,826(-) A/C genic_upstream_transcript_variant, intron_variant
rs1000822566 -- 19,145,436(-) G/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ESS2 Gene

Variant ID Type Subtype PubMed ID
esv1435213 CNV deletion 17803354
esv2139371 CNV deletion 18987734
esv3575418 CNV gain 25503493
nsv1056141 CNV gain 25217958
nsv191354 CNV deletion 16902084
nsv191518 CNV deletion 16902084
nsv588213 CNV gain 21841781
nsv588216 CNV gain 21841781
nsv834122 CNV loss 17160897
nsv953022 CNV deletion 24416366

Variation tolerance for ESS2 Gene

Residual Variation Intolerance Score: 33.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.67; 78.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ESS2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ESS2 Gene

Disorders for ESS2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for ESS2 Gene - From: HGMD, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
velocardiofacial syndrome
  • cayler cardiofacial syndrome
digeorge syndrome
  • dgs
malignant ovarian surface epithelial-stromal neoplasm
  • malignant ovarian surface epithelial-stromal tumor
ovary epithelial cancer
  • epithelial tumor of ovary
ovarian cancer 1
  • ovarian cancer
- elite association - COSMIC cancer census association via MalaCards
Search ESS2 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with ESS2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ESS2 Gene

Publications for ESS2 Gene

  1. Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region. (PMID: 9063747) Gong W … Budarf ML (Human molecular genetics 1997) 2 3 4 22 58
  2. Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis. (PMID: 11991638) Jurica MS … Moore MJ (RNA (New York, N.Y.) 2002) 2 3 4 58
  3. A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11. (PMID: 8776594) Gong W … Budarf ML (Human molecular genetics 1996) 2 3 4 58
  4. Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and Velocardiofacial syndromes conserved in C. elegans. (PMID: 8703114) Rizzu P … Baldini A (Mammalian genome : official journal of the International Mammalian Genome Society 1996) 3 4 22 58
  5. DGCR14 induces Il17a gene expression through the RORγ/BAZ1B/RSKS2 complex. (PMID: 25368387) Takada I (Molecular and cellular biology 2015) 2 3 58

Products for ESS2 Gene

Sources for ESS2 Gene

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