Recombinant Human Splicing factor ESS-2 homolog (ESS2)

Uniprot Id

Q96DF8

Target Species

Human

Target Name

ESS2

Target Full Name

Splicing factor ESS-2 homolog

Target Function

May be involved in pre-mRNA splicing.

Target Subcellular Location

Nucleus.

Target Protein Families

ESS2 family

Target Tissue Specificity

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

Target Synonyms

DGC14_HUMAN; DGCR13; DGCR14; DGS H; DGS I; DGS-H; DGSH; DGSI; DiGeorge syndrome critical region 13; DiGeorge syndrome critical region 14; DiGeorge syndrome critical region gene 14; DiGeorge syndrome critical region gene DGSI; DiGeorge syndrome critical region protein 14; DiGeorge syndrome gene H; DiGeorge syndrome gene I; DiGeorge syndrome protein H; ES2; ES2 protein ; Es2el; Protein DGCR14; Protein ES2

Target Background

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.