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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
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)
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
ANEMIA, HEMOLYTIC, CONGENITAL CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anti-D isoimmunization affecting pregnancy risk factor ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Blood group antigen abnormality Affects ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hemolytic disease of fetus and newborn, RH-induced Uncertain significance ClinVar
ClinVar, Disgenet
ClinVar, Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alloimmunisation Alloimmunisation BEFREE 16181204, 27345938, 28374955, 29866395, 29869532, 30284289, 31059639
★☆☆☆☆
Found in Text Mining only
Alveolar rhabdomyosarcoma Alveolar Rhabdomyosarcoma BEFREE 12414908, 16077930, 19442434, 21177767, 23000453, 23799156, 25832557, 27799565, 29277758
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 24955499
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 20572110
★☆☆☆☆
Found in Text Mining only
Anemia Hemolytic Hemolytic anemia Pubtator 32319623 Associate
★☆☆☆☆
Found in Text Mining only
Anemia Sickle Cell Sickle cell anemia Pubtator 27177398, 31408202, 35848626, 37002797 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 17198846, 20008197, 27177398, 29330014, 31408202, 31758587
★☆☆☆☆
Found in Text Mining only
Anti-D isoimmunization affecting pregnancy Anti-D Isoimmunization Affecting Pregnancy CLINVAR_DG 28639307
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Atypical Teratoid Rhabdoid Tumor Teratoid Rhabdoid Tumor BEFREE 23816608
★☆☆☆☆
Found in Text Mining only