KHDRBS2 Gene Summary [Human]

Predicted to enable mRNA binding activity and poly(A) binding activity. Predicted to be involved in regulation of alternative mRNA splicing, via spliceosome. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

Details

Type
Nonsense Mediated Decay
Official Symbol
KHDRBS2
Official Name
KH RNA binding domain containing, signal transduction associated 2 [Source:HGNC Symbol;Acc:HGNC:18114]
Ensembl ID
ENSG00000112232
Bio databases IDs NCBI: 202559 Ensembl: ENSG00000112232
Aliases KH RNA binding domain containing, signal transduction associated 2, Sam68-like mammalian protein 1
Synonyms 6330586C16Rik, KH domain containing, RNA binding, signal transduction associated 2, KHDRBS2-OT, KHDRBS2-OT1, KH RNA binding domain containing, signal transduction associated 2, mSLM-1, RP1 240B83, Slim1, SLM-1, Tg(LRRK2*R1441G)135Cjli, TG-RP135
Species
Human, Homo sapiens
OrthologiesMouseRat

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 KHDRBS2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Qua1 domain
  • K homology (KH) RNA-binding domain, type I
  • SH2-domain binding
  • poly(A) binding protein
  • protein binding
  • Tyrosine-rich domain of Sam68
  • SH3-domain binding
  • poly(U) binding protein

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • esophageal adenocarcinoma
  • Alzheimer disease
  • gout
  • sunburn
  • esophageal carcinoma formation
  • Epstein-Barr virus infection
  • corneal astigmatism
  • infertility condition
regulated by
regulates

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
  • nucleoplasm
  • nuclear bodies

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human KHDRBS2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of alternative nuclear mRNA splicing, via spliceosome
  • mRNA processing

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • poly(A) RNA binding
  • mRNA binding
  • poly(U) RNA binding
  • SH3 domain binding
  • SH2 domain binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.