RHCE (Rh blood group CcEe antigens)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6006
Gene name Gene Name - the full gene name approved by the HGNC.
Rh blood group CcEe antigens
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RHCE
Synonyms (NCBI Gene) Gene synonyms aliases
CD240CE, RH, RH30A, RHC, RHCe(152N), RHE, RHIXB, RHNA, RHPI, Rh4, RhIVb(J), RhVI, RhVIII, SLC42A4
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.11
Summary Summary of gene provided in NCBI Entrez Gene.
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 grou
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs1553156106 ->TGAAGCA Pathogenic Intron variant, frameshift variant, coding sequence variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways
Show/Hide all(10)
GO ID Ontology Definition Evidence Reference
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS 1438298
GO:0008519 Function Ammonium channel activity IBA
GO:0008519 Function Ammonium channel activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways
MIM HGNC e!Ensembl
111700 10008 ENSG00000188672
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways
UniProt ID P18577
Protein name Blood group Rh(CE) polypeptide (Rh polypeptide 1) (RhPI) (Rh30A) (RhIXB) (Rhesus C/E antigens) (CD antigen CD240CE)
Protein function Component of the ankyrin-1 complex, a multiprotein complex involved in the stability and shape of the erythrocyte membrane (PubMed:35835865). Mediates the primary membrane attachment site for ANK1 when associated with RHAG (PubMed:35835865). May
PDB 7UZQ , 7V0K , 7V0S , 8CRT , 8CS9 , 8CSL , 8CSX , 8CTE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00909 Ammonium_transp 15 → 405 Ammonium Transporter Family Family
Tissue specificity TISSUE SPECIFICITY: Restricted to tissues or cell lines expressing erythroid characters. Isoform 4g and isoform RhPI-Alpha are expressed in immature erythroblasts but not in mature erythroblasts. {ECO:0000269|PubMed:8117271}.
Sequence
Sequence length 417
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways
  Reactome
    Rhesus blood group biosynthesis
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