RHAG

RHAG
Identifiers
Aliases	RHAG, CD241, RH2, RH50A, Rh50, Rh50GP, SLC42A1, OHS, OHST, Rh-associated glycoprotein, Rh associated glycoprotein, RHNR
External IDs	OMIM: 180297; MGI: 1202713; GeneCards: RHAG
Gene location (Human) Chr. Chromosome 6 (human) Band 6p12.3 Start 49,605,175 bp End 49,636,839 bp
Gene location (Mouse) Chr. Chromosome 17 (mouse) Band 17 B2|17 19.54 cM Start 41,122,017 bp End 41,151,645 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in trabecular bone bone marrow bone marrow cell testicle blood right auricle of heart monocyte amniotic fluid ventricle of the heart cervix Top expressed in fetal liver hematopoietic progenitor cell tibiofemoral joint human fetus body of femur spleen bone marrow blood tail of embryo yolk sac genital tubercle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function ankyrin binding carbon dioxide transmembrane transporter activity ammonium transmembrane transporter activity leak channel activity Cellular component integral component of membrane plasma membrane integral component of plasma membrane membrane Biological process multicellular organismal iron ion homeostasis bicarbonate transport organic cation transport carbon dioxide transport erythrocyte development cellular ion homeostasis carbon dioxide transmembrane transport ammonium transmembrane transport Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 6005 19743 Ensembl ENSG00000112077 ENSMUSG00000023926 UniProt Q02094 Q9QUT0 RefSeq (mRNA) NM_000324 NM_011269 RefSeq (protein) NP_000315 NP_035399 Location (UCSC) Chr 6: 49.61 – 49.64 Mb Chr 17: 41.12 – 41.15 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Rh-associated glycoprotein (RHAG) is an ammonia transporter protein that in humans is encoded by the RHAG gene. RHAG has also recently been designated CD241 (cluster of differentiation 241). Mutations in the RHAG gene can cause stomatocytosis.

Function

The Rh blood group antigens (MIM 111700) are associated with human erythrocyte membrane proteins of approximately 30 kD, the so-called Rh30 polypeptides. Heterogeneously glycosylated membrane proteins of 50 and 45 kD, the Rh50 glycoproteins, are coprecipitated with the Rh30 polypeptides on immunoprecipitation with anti-Rh-specific mono- and polyclonal antibodies. The Rh antigens appear to exist as a multisubunit complex of CD47 (MIM 601028), LW (MIM 111250), glycophorin B (MIM 111740), and play a critical role in the Rh50 glycoprotein [supplied by OMIM].

Clinical diagnostic

Clinical testing in patient care for RhAG antigens follows published minimum quality and operational requirements, similar to red cell genotyping for any of the other recognized blood group systems. Molecular analysis can identify gene variants (alleles) that may affect RhAG antigens expression on the red cell membrane.

Interactions

RHAG has been shown to interact with ANK1.

See also

• Rh deficiency syndrome