ELP2 gene

elongator acetyltransferase complex subunit 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is a core subunit of the elongator complex, a histone acetyltransferase complex that associates with RNA polymerase II. In addition to histone acetylation, the encoded protein effects transcriptional elongation and may help remodel chromatin. [provided by RefSeq, May 2016]

From UniProt:

Regulates the ligand-dependent activation of STAT3.

Acts as subunit of the RNA polymerase II elongator complex, which is a histone acetyltransferase component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator may play a role in chromatin remodeling and is involved in acetylation of histones H3 and probably H4.

From NCBI Gene:

  • Mental retardation, autosomal recessive 58

From UniProt:

Mental retardation, autosomal recessive 48 (MRT48): A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT48 patients show moderate to severe intellectual disability and additional features including progressive tremor, speech impairment, and sometimes behavioral problems. [MIM:616269]

Cytogenetic Location: 18q12.2, which is the long (q) arm of chromosome 18 at position 12.2

Molecular Location: base pairs 36,129,874 to 36,177,931 on chromosome 18 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 18q12.2, which is the long (q) arm of chromosome 18 at position 12.2
  • MRT58
  • SHINC-2
  • STATIP1
  • StIP