Gene Gene information from NCBI Gene database.
Entrez ID 6007
Gene name Rh blood group D antigen
Gene symbol RHD
Synonyms (NCBI Gene)
CD240DDIIIcHDFNRHRHRH30RHCEDRHDVA(TT)RHDelRHPIIRHXIIIRh4RhDCwRhIIRhK562-IIRhPISLC42A5
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
miRNA miRNA information provided by mirtarbase database.
392
miRTarBase ID miRNA Experiments Reference
MIRT453409 hsa-miR-3927-3p HITS-CLIP 23313552
MIRT453407 hsa-miR-6831-5p HITS-CLIP 23313552
MIRT453384 hsa-miR-4459 HITS-CLIP 23313552
MIRT453408 hsa-miR-665 HITS-CLIP 23313552
MIRT453405 hsa-miR-6840-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
111680 10009 ENSG00000187010
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q02161
Protein name Blood group Rh(D) polypeptide (RHXIII) (Rh polypeptide 2) (RhPII) (Rhesus D antigen) (CD antigen CD240D)
Protein function May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00909 Ammonium_transp 15 406 Ammonium Transporter Family Family
Tissue specificity TISSUE SPECIFICITY: Restricted to tissues or cell lines expressing erythroid characters.
Sequence
Sequence length 417
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Rhesus blood group biosynthesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
22
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 rs1571667550, rs1053355, rs1053356, rs138235491, rs1053359, rs150073306, rs748033761, rs199509194, rs113982491, rs17418085, rs17421144 -
Anti-D isoimmunization affecting pregnancy risk factor rs146093871 RCV000515752
Blood group antigen abnormality Affects rs879255550 RCV000239452
Hemolytic disease of fetus and newborn, RH-induced Uncertain significance rs121912762 RCV005394166
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Anemia Hemolytic Associate 32319623
Anemia hereditary spherocytic hemolytic Associate 25190055
Anemia Sickle Cell Associate 27177398, 31408202, 35848626, 37002797
beta Thalassemia Associate 12357449
COVID 19 Associate 35302480
Disease Associate 29874251, 9657769
Down Syndrome Associate 25190055
Esophageal Neoplasms Inhibit 35893895
Esophageal Squamous Cell Carcinoma Inhibit 35893895
Evans Syndrome Associate 8808597