ESS2

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]

Description

Ess-2 splicing factor homolog

Tissue specificity

Tissue enhanced (brain)

Subcell location

Nucleoplasm

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

22 (19130279 - 19144684)

Ensembl ID

ENSG00000100056  (ver. 103.38)

Orthologs

Mouse Ess2: ENSMUSG00000003527

UniProt

Q96DF8

neXtProt

NX_Q96DF8

Human splice variants
Mouse splice variants

Protein structure