Disease-gene associations mined from literature

Literature associating POLR2G and congenital myasthenic syndrome 5

POLR2G [ENSP00000301788]

Polymerase (RNA) II (DNA directed) polypeptide G; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB7 is part of a subcomplex with RPB4 that binds to a pocket formed by RPB1, RPB2 and RPB6 at the base of the clamp element. The RBP4-RPB7 subcomplex seems to lock the clamp via RPB7 in the closed conformation thus preventing double-stranded DNA to enter the active site cleft. The RPB4-RPB7 subcomplex binds single-stranded DNA and RNA (By similarity). Binds RNA.

Synonyms:  POLR2G,  POLR2Gp,  hPOLR2G,  E9PIU7,  E9PKH3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM