Tbio ESS2 Splicing factor ESS-2 homolog

Protein Summary

Description

May be involved in pre-mRNA splicing. 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]

Uniprot Accession IDs

• Q96DF8
• Q49AH7
• Q9BTZ4

Gene Name

• ESS2

Ensembl ID

• ENST00000252137
• ENSP00000252137
• ENSG00000100056

Symbol

• DGCR13
• DGCR14
• DGSH
• DGSI
• ES2
• ES2
• DGSH
• DGSI
• bis1
• DGS-H
• DGS-I
• ESS-2
• Es2el
• DGCR13
• DGCR14

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological process	0
biological term	0
cell line	0
cell type or tissue	0
cellular component	0

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1106.78   (req: < 5)

Gene RIFs: 3   (req: <= 3)

Antibodies: 105   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1106.78   (req: >= 5)

Gene RIFs: 3   (req: > 3)

Antibodies: 105   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 2

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0