RHCE (Rh blood group CcEe antigens)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 6006
Gene name Rh blood group CcEe antigens
Gene symbol RHCE
Synonyms (NCBI Gene)
CD240CERHRH30ARHCRHCe(152N)RHERHIXBRHNARHPIRh4RhIVb(J)RhVIRhVIIISLC42A4
Chromosome 1
Chromosome location 1p36.11
Summary 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.
1
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
111700 10008 ENSG00000188672
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 Associated diseases
  Reactome
    Rhesus blood group biosynthesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
RH-NULL, AMORPH TYPE Pathogenic rs2124396753, rs2124429282, rs2523069166, rs1553156106 RCV000019284
RCV000627069
RCV000627070
RCV000627071
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs586178, rs676785, rs181860403, rs1053344 -
altered RhC expression Affects rs2124414255 RCV001544502
RH E/e POLYMORPHISM Benign rs609320 RCV000019282
Show/Hide Text Mining Associations (6)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Anemia Hemolytic Autoimmune Associate 11559950
Anemia Sickle Cell Associate 21623766, 35848626
Disease Associate 22367406, 9657769
Evans Syndrome Associate 8808597
Fetomaternal Transfusion Associate 30237270
Tooth Loss Associate 33263520