RHCE Gene Summary [Human]

The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene which encodes both the RhC and RhE antigens on a single polypeptide and a second gene which encodes the RhD protein. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. A mutation in this gene results in amorph-type Rh-null disease. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Aug 2016]

Details

Type
Protein Coding
Official Symbol
RHCE
Official Name
Rh blood group CcEe antigens [Source:HGNC Symbol;Acc:HGNC:10008]
Ensembl ID
ENSG00000188672
Bio databases IDs NCBI: 6006 Ensembl: ENSG00000188672
Aliases Rh blood group CcEe antigens
Synonyms CD240CE, RH, Rh30, RH30A, Rh4, Rh blood group CcEe antigens, Rh blood group, D antigen, RHC, RHCe(152N), Rhced, RHD, RHE, Rhesus C/E antigens, RhIVb(J), RHIXB, Rhl1, RHNA, RHPI, Rh polypeptide 1, RhVI, RhVIII, SLC42A4
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 RHCE often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • transporter
  • Ammonium Transporter Family

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • diabetic nephropathy
  • Rh deficiency syndrome
  • amorph type Rh-null disease
regulates
  • heavy metal
  • RHAG
  • ammonium
role in cell
  • function
  • development

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • membrane fraction
  • cell surface
  • cellular membrane
  • Nucleus

Gene Ontology Annotations

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

Biological Process

Functions and activities the gene product is involved in
  • ammonium transmembrane transport
  • ammonia homeostasis

Cellular Component

Where in the cell the gene product is active
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • ammonium transmembrane transporter activity

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.