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:

Component of the RNA polymerase II elongator complex, a multiprotein complex associated with the RNA polymerase II (Pol II) holoenzyme, and which is involved in transcriptional elongation (PubMed:11714725, PubMed:11818576). The elongator complex catalyzes formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (PubMed:29332244).

From NCBI Gene:

  • Mental retardation, autosomal recessive 58

From UniProt:

Mental retardation, autosomal recessive 58 (MRT58): 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. MRT58 transmission pattern is consistent with autosomal recessive inheritance. [MIM:617270]

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

Molecular Location: base pairs 36,129,899 to 36,180,557 on chromosome 18 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

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