ESS2, ess-2 splicing factor homolog

ESS2, ess-2 splicing factor homolog

• 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]

• Gene Synonyms (splicing factor ESS-2 homolog, DiGeorge syndrome critical region gene 13, DiGeorge syndrome critical region gene 14, DiGeorge syndrome critical region gene DGSI, DiGeorge syndrome gene H, DiGeorge syndrome gene I, Protein DGCR13, diGeorge syndrome protein H, protein DGCR14, DGCR13, DGCR14, DGS-H, DGS-I, DGSH, DGSI, ES2, ESS-2, Es2el, bis1,)
• NCBI Gene ID: 8220
• Species: Homo sapiens (Human)
• UNIPROT ID#>>F8WEF8
  UNIPROT ID#>>Q96DF8
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

ess-2 splicing factor homolog interacts with:

• armadillo repeat containing 7
  CDK5 regulatory subunit associated protein 3
  centrosomal protein 250
  coactivator associated arginine methyltransferase 1
  coiled-coil domain containing 57
  DEAH-box helicase 16
  DnaJ heat shock protein family (Hsp40) member B8
  egl-9 family hypoxia inducible factor 3
  exocyst complex component 8
  family with sequence similarity 170 member A
  forkhead box J2
  FRA10A associated CGG repeat 1
  H2B clustered histone 8
  HSPA (Hsp70) binding protein 1
  IKAROS family zinc finger 3
  leukocyte receptor cluster member 1
  NKAP domain containing 1
  nuclear RNA export factor 1
  Opa interacting protein 5
  pre-mRNA processing factor 19
  RALY RNA binding protein like
  receptor for activated C kinase 1
  receptor interacting serine/threonine kinase 4
  SNW domain containing 1
  SYF2 pre-mRNA splicing factor
  tetratricopeptide repeat domain 14
  tubulin gamma complex associated protein 3
  U6 snRNA biogenesis phosphodiesterase 1
  WNK lysine deficient protein kinase 2
  WW domain containing oxidoreductase

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.