DISEASES

Disease-gene associations mined from literature

Literature associating ELL2 and clear cell renal cell carcinoma

ELL2 [ENSP00000237853]

RNA polymerase II elongation factor ELL2; Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III. Plays a role in immunoglobulin secretion in plasma cells: directs efficient alternative mRNA processing, influencing both proximal poly(A) site choice and exon skipping, as well as immunoglobulin heavy chain (IgH) alternative processing. Probably acts by regulating histone modifications accompanying transition from membrane- specific to secretory IgH mRNA expression; Belongs to the ELL/occludin family.

Synonyms:  ELL2,  ELL2p,  hELL2,  B4DTQ1,  D6RC27 ...

Linkouts:  STRING  Pharos  UniProt  OMIM