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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
RH-NULL, AMORPH TYPE Pathogenic rs2124396753, rs2124429282, rs2523069166, rs1553156106 RCV000019284
RCV000627069
RCV000627070
RCV000627071
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (4)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
altered RhC expression Affects ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC, CONGENITAL — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RH DEFICIENCY SYNDROME — Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RH E/e POLYMORPHISM Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (29)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alloimmunisation Alloimmunisation BEFREE 21166680, 27177398, 27345938
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Hemolytic Autoimmune Autoimmune hemolytic anemia Pubtator 11559950 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Sickle Cell Sickle cell anemia Pubtator 21623766, 35848626 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia, Hemolytic, Congenital Anemia CTD_human_DG 9657769
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anemia, Sickle Cell Anemia BEFREE 15023184, 17198846, 20008197, 27177398, 27345938, 28388467, 31758587
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis, Psoriatic Psoriatic Arthritis BEFREE 29088976
★★★★★
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 16337093
★★★★★
★☆☆☆☆
Found in Text Mining only
Dermatitis, Atopic Dermatitis BEFREE 28191908
★★★★★
★☆☆☆☆
Found in Text Mining only
Dyslexia Dyslexia BEFREE 16337093
★★★★★
★☆☆☆☆
Found in Text Mining only
Dysplastic Nevus Dysplastic Nevus BEFREE 16214921
★★★★★
★☆☆☆☆
Found in Text Mining only