Human Gene ESS2 (ENST00000252137.11_7) from GENCODE V47lift37
  Description: ess-2 splicing factor homolog, transcript variant 1 (from RefSeq NM_022719.3)
Gencode Transcript: ENST00000252137.11_7
Gencode Gene: ENSG00000100056.12_12
Transcript (Including UTRs)
   Position: hg19 chr22:19,117,792-19,132,164 Size: 14,373 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr22:19,121,709-19,132,153 Size: 10,445 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:19,117,792-19,132,164)mRNA (may differ from genome)Protein (476 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsMalacards
MGIOMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DGC14_HUMAN
DESCRIPTION: RecName: Full=Protein DGCR14; AltName: Full=DiGeorge syndrome critical region 13; AltName: Full=DiGeorge syndrome critical region 14; AltName: Full=DiGeorge syndrome protein H; Short=DGS-H; AltName: Full=Protein ES2;
FUNCTION: May be involved in pre-mRNA splicing.
SUBUNIT: Identified in the spliceosome C complex.
SUBCELLULAR LOCATION: Nucleus (By similarity).
TISSUE SPECIFICITY: Highly expressed in heart, brain and skeletal muscle. Detected at low levels in placenta.
SIMILARITY: Belongs to the DGCR14 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ESS2
Diseases sorted by gene-association score: digeorge syndrome (17), velocardiofacial syndrome (3), migraine with or without aura 1 (2), malignant ovarian surface epithelial-stromal neoplasm (2), ovary epithelial cancer (2), female reproductive organ cancer (2), ovary adenocarcinoma (2), ovarian cancer, somatic (1), reproductive organ cancer (1)

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 20.50 RPKM in Testis
Total median expression: 456.82 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -1609.703917-0.411 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019148 - Nuclear_protein_DGCR14

Pfam Domains:
PF09751 - Nuclear protein Es2

ModBase Predicted Comparative 3D Structure on Q96DF8
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0005515 protein binding

Biological Process:
GO:0000398 mRNA splicing, via spliceosome
GO:0006397 mRNA processing
GO:0007399 nervous system development
GO:0008380 RNA splicing

Cellular Component:
GO:0005634 nucleus
GO:0005681 spliceosomal complex
GO:0071013 catalytic step 2 spliceosome


-  Descriptions from all associated GenBank mRNAs
  AF088068 - Homo sapiens full length insert cDNA clone ZD87H06.
BC037829 - Homo sapiens cDNA clone IMAGE:4811934.
BC069275 - Homo sapiens cDNA clone IMAGE:6210320.
AK095932 - Homo sapiens cDNA FLJ38613 fis, clone HEART2006334, highly similar to Homo sapiens DiGeorge syndrome critical region gene 13 (DGCR13), mRNA.
L77565 - Homo sapiens DGS-H mRNA, 3' end.
BC003015 - Homo sapiens, Similar to expressed sequence 2 embryonic lethal, clone IMAGE:2821316, mRNA, partial cds.
L78010 - Homo sapiens ES2 (ES2) mRNA, complete cds.
BC006542 - Homo sapiens DiGeorge syndrome critical region gene 14, mRNA (cDNA clone MGC:2370 IMAGE:2823027), complete cds.
L77566 - Homo sapiens DGS-I mRNA, 3' end.
JD484577 - Sequence 465601 from Patent EP1572962.
JD231316 - Sequence 212340 from Patent EP1572962.
JD218577 - Sequence 199601 from Patent EP1572962.
JD492330 - Sequence 473354 from Patent EP1572962.
JD180458 - Sequence 161482 from Patent EP1572962.
JD216531 - Sequence 197555 from Patent EP1572962.
JD257196 - Sequence 238220 from Patent EP1572962.
JD050996 - Sequence 32020 from Patent EP1572962.
JD504671 - Sequence 485695 from Patent EP1572962.
JD387214 - Sequence 368238 from Patent EP1572962.
CR456344 - Homo sapiens Em:AC004471.1 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.Em:AC004471.1.V2).
JD284668 - Sequence 265692 from Patent EP1572962.
CU013055 - Homo sapiens DGCR14, mRNA (cDNA clone IMAGE:100000313), complete cds, with stop codon, in Gateway system.
DQ890662 - Synthetic construct clone IMAGE:100003292; FLH164883.01X; RZPDo839D03158D DiGeorge syndrome critical region gene 14 (DGCR14) gene, encodes complete protein.
KJ892478 - Synthetic construct Homo sapiens clone ccsbBroadEn_01872 DGCR14 gene, encodes complete protein.
DQ893842 - Synthetic construct Homo sapiens clone IMAGE:100008302; FLH164879.01L; RZPDo839D03157D DiGeorge syndrome critical region gene 14 (DGCR14) gene, encodes complete protein.
CU013343 - Homo sapiens DGCR14, mRNA (cDNA clone IMAGE:100000217), complete cds, without stop codon, in Gateway system.
AB463030 - Synthetic construct DNA, clone: pF1KB8719, Homo sapiens DGCR14 gene for ES2 protein, without stop codon, in Flexi system.
L42353 - Homo sapiens (clone HPL29g9) mRNA fragment.
U84518 - Human velo-cardio-facial syndrome 22q11 region mRNA sequence.

-  Other Names for This Gene
  Alternate Gene Symbols: DGCR13, DGCR14, DGSH, DGSI, ENST00000252137.1, ENST00000252137.10, ENST00000252137.2, ENST00000252137.3, ENST00000252137.4, ENST00000252137.5, ENST00000252137.6, ENST00000252137.7, ENST00000252137.8, ENST00000252137.9, ES2, ESS2 , ESS2_HUMAN, NM_022719, Q49AH7, Q96DF8, Q9BTZ4, uc317fgg.1, uc317fgg.2
UCSC ID: ENST00000252137.11_7
RefSeq Accession: NM_022719.3
Protein: Q96DF8 (aka DGC14_HUMAN or DGRE_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.