BORCS8-MEF2B Gene Summary [Human]

This gene represents numerous read-through transcripts that span GeneID:729991 and 100271849. Many read-through transcripts are predicted to be nonsense-mediated decay (NMD) candidates, and are thought to be non-coding. Some transcripts are predicted to be capable of translation reinitiation at a downstream AUG, resulting in expression of at least one isoform of myocyte enhancer factor 2B (MEF2B) from this read-through locus. At least one additional MEF2B variant and isoform can be expressed from a downstream promoter, and is annotated on GeneID:100271849. [provided by RefSeq, Oct 2010]

Details

Type
Nonsense Mediated Decay
Official Symbol
BORCS8-MEF2B
Official Name
BORCS8-MEF2B readthrough [Source:HGNC Symbol;Acc:HGNC:39979]
Ensembl ID
ENSG00000064489
Bio databases IDs NCBI: 4207 Ensembl: ENSG00000064489
Aliases BORCS8-MEF2B readthrough
Synonyms 2310045N01RIK, AI451606, BORCS8-MEF2B readthrough, LOC729991, LOC729991-MEF2B, MEF2B, MEF2BNB-MEF2B, RSRFR2
Species
Human, Homo sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human BORCS8-MEF2B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • MADS
  • RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
  • RNA polymerase II transcription factor activity, sequence-specific DNA binding
  • transcription regulator
  • SRF-type transcription factor (DNA-binding and dimerization domain)
  • nucleic acid binding
  • double-stranded DNA binding
  • histone deacetylase binding
  • protein binding
  • sequence-specific DNA binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • schizophrenia
regulates
  • DNA promoter
  • DNA endogenous promoter
  • RNA polymerase II

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nuclear fraction
  • cell junction
  • cytosol
  • nucleoplasm
  • chromatin

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human BORCS8-MEF2B gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • muscle organ development
  • heart development
  • cell differentiation
  • positive regulation of transcription from RNA polymerase II promoter

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • transcription factor complex
  • cell junction
  • cytosol
  • chromatin
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • sequence-specific DNA binding transcription factor activity
  • protein binding
  • histone deacetylase binding
  • RNA polymerase II core promoter proximal region sequence-specific DNA binding
  • RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
  • protein dimerization activity
  • sequence-specific DNA binding RNA polymerase II transcription factor activity

Gene-Specific Assays for Results You Can Trust

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