RHD 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 the RhD protein, and a second gene that encodes both the RhC and RhE antigens on a single polypeptide. The two genes, and a third unrelated gene, are found in a cluster on chromosome 1. 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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Details

Type
Retained Intron
Official Symbol
RHD
Official Name
Rh blood group D antigen [Source:HGNC Symbol;Acc:HGNC:10009]
Ensembl ID
ENSG00000187010
Bio databases IDs NCBI: 6007 Ensembl: ENSG00000187010
Aliases Rh blood group D antigen
Synonyms CD240D, DIIIc, HDFNRH, RH, RH30, Rh4, Rh blood group D antigen, RHCED, RhDCw, RHDel, RHDVA(TT), RhII, RhK562-II, RhPI, RHPII, RHXIII, SLC42A5
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 RHD often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • protein binding
  • cytosolic tail domain
  • 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
  • epithelial cancer
  • primary prostate cancer
  • metastatic prostate cancer
  • adenocarcinoma
  • lung adenocarcinoma
  • lung adenocarcinoma formation
  • fetal erythroblastosis
  • Rh-induced hemolytic disease of the fetus and newborn
  • mesothelioma
  • mesothelioma formation
regulated by
regulates
role in cell
  • proliferation
  • attachment
  • binding
  • agglutination

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
  • cell surface
  • cellular membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human RHD 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

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