Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6007
Gene name Gene Name - the full gene name approved by the HGNC.
Rh blood group D antigen
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RHD
Synonyms (NCBI Gene) Gene synonyms aliases
CD240D, DIIIc, HDFNRH, RH, RH30, RHCED, RHDVA(TT), RHDel, RHPII, RHXIII, Rh4, RhDCw, RhII, RhK562-II, RhPI, SLC42A5
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HDFNRH
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
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005887 Component Integral component of plasma membrane IBA 21873635
GO:0008519 Function Ammonium transmembrane transporter activity IBA 21873635
GO:0072488 Process Ammonium transmembrane transport IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
111680 10009 ENSG00000187010
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia, Hemolytic, Congenital rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
9657769
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Erythroblastosis fetalis Hemolytic disease of fetus OR newborn due to RhD isoimmunization rs1131690802 28639307
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
12439825, 14735156, 18692992
Unknown
Disease term Disease name Evidence References Source
Rh Deficiency Syndrome Rh deficiency syndrome GenCC
Associations from Text Mining
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