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Aliases for RHD Gene

Aliases for RHD Gene

  • Rh Blood Group D Antigen 2 3 5
  • Rhesus D Antigen 3 4
  • RHXIII 3 4
  • RHPII 3 4
  • Rhesus Blood Group D Antigen Allele DIII Type 7 3
  • Truncated Rhesus Blood Group D Antigen 3
  • Truncated Rh Blood Group D Antigen 3
  • Rhesus Blood Group, D Antigen 2
  • Blood Group Rh(D) Polypeptide 3
  • Rh Blood Group Antigen Evans 3
  • Rh Blood Group CcEe Antigen 3
  • Rhesus System D Polypeptide 3
  • Rh Blood Group CE Antigen 3
  • Rh Blood Group, D Anitgen 3
  • Rh Blood Group C Antigen 3
  • RhD Blood Group Antigen 3
  • Blood Group Protein RHD 3
  • Blood Group Antigen D 3
  • Truncated Rhesus D 3
  • RH Polypeptide 2 3
  • Rh Polypeptide 2 4
  • D Antigen (DCS) 3
  • RhD Polypeptide 3
  • CD240D Antigen 4
  • Truncated RhD 3
  • RHDVA(TT) 3
  • RhK562-II 3
  • CD240D 3
  • DIIIc 3
  • RHCED 3
  • RHDel 3
  • RhDCw 3
  • RHPI 3
  • RH30 3
  • RhII 3
  • Rh4 3
  • RH 3

External Ids for RHD Gene

Previous HGNC Symbols for RHD Gene

  • RH

Previous GeneCards Identifiers for RHD Gene

  • GC01M025154
  • GC01M024859
  • GC01M024598
  • GC01P025154
  • GC01P025344
  • GC01P025471
  • GC01P025599
  • GC01P023853

Summaries for RHD Gene

Entrez Gene Summary for RHD 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 group includes this gene, which encodes the RhD protein, and a second gene that encodes both the RhC and RhE antigens on a single polypeptide. The two genes, and a third unrelated gene, are found in a cluster on chromosome 1. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for RHD Gene

RHD (Rh Blood Group D Antigen) is a Protein Coding gene. Diseases associated with RHD include Anemia, Hemolytic, Rh-Null, Regulator Type and Skeletal Muscle Cancer. GO annotations related to this gene include ammonium transmembrane transporter activity. An important paralog of this gene is RHCE.

UniProtKB/Swiss-Prot for RHD Gene

  • May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.

Gene Wiki entry for RHD Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RHD Gene

Genomics for RHD Gene

Regulatory Elements for RHD Gene

Enhancers for RHD Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G025407 0.6 dbSUPER 41.5 +136.2 136175 2.6 BCOR SMARCA5 HDGF MTA2 L3MBTL2 HDAC2 ZNF24 KDM1A ZBTB33 RHD SDHDP6 RHCE GC01P025398
GH01G025270 1 dbSUPER 19.3 +4.2 4212 13.0 FOXA2 ATF1 PKNOX1 ARNT E2F7 ARID4B YY1 TCF12 CBX5 GATA2 RHD SYF2 RHCE SDHDP6 ENSG00000261349 SLC30A2 LOC105376882 GC01P025285
GH01G025283 0.9 dbSUPER 21.2 +12.5 12540 3.0 HDAC1 NFIB ARNT E2F7 NFXL1 RAD21 CHAMP1 TCF12 EGR2 CEBPB RHD RHCE SDHDP6 PAQR7 GC01P025285 LOC105376882
GH01G025411 1 dbSUPER 16.2 +144.5 144457 11.7 HDGF PKNOX1 ATF1 CREB3L1 ARNT E2F7 YBX1 TCF12 ZNF766 GATA2 RHCE RHD GC01P025398
GH01G025425 0.8 ENCODE 12.6 +153.4 153379 0.8 BCOR SAP130 ZMYM3 MAX CEBPG ZIC2 YY1 TEAD3 ZNF664 SMARCA5 RHCE RHD GC01P025398
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RHD on UCSC Golden Path with GeneCards custom track

Genomic Location for RHD Gene

25,272,393 bp from pter
25,330,445 bp from pter
58,053 bases
Plus strand

Genomic View for RHD Gene

Genes around RHD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RHD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RHD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RHD Gene

Proteins for RHD Gene

  • Protein details for RHD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Blood group Rh(D) polypeptide
    Protein Accession:
    Secondary Accessions:
    • Q02162
    • Q07618
    • Q16147
    • Q16235
    • Q16355
    • Q5VSK0
    • Q5XLS9
    • Q5XLT1
    • Q5XLT2
    • Q9NPK0
    • Q9UQ20
    • Q9UQ21
    • Q9UQ22
    • Q9UQ23

    Protein attributes for RHD Gene

    417 amino acids
    Molecular mass:
    45211 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RHD Gene

neXtProt entry for RHD Gene

Post-translational modifications for RHD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RHD Gene

Domains & Families for RHD Gene

Gene Families for RHD Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily.
  • Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily.
genes like me logo Genes that share domains with RHD: view

Function for RHD Gene

Molecular function for RHD Gene

GENATLAS Biochemistry:
Rhesus blood group,locus D,absent in the Caucasian RHD-negative phenotype
UniProtKB/Swiss-Prot Function:
May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.

Gene Ontology (GO) - Molecular Function for RHD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008519 ammonium transmembrane transporter activity IBA,IEA --
genes like me logo Genes that share ontologies with RHD: view
genes like me logo Genes that share phenotypes with RHD: view

Animal Models for RHD Gene

MGI Knock Outs for RHD:
  • Rhd tm1Goo
  • Rhd tm1a(EUCOMM)Wtsi

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RHD Gene

Localization for RHD Gene

Subcellular locations from UniProtKB/Swiss-Prot for RHD Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RHD gene
Compartment Confidence
plasma membrane 5
cytosol 2
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for RHD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS 1438298
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RHD: view

Pathways & Interactions for RHD Gene

No Data Available

Interacting Proteins for RHD Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 21)
Selected Interacting proteins: Q02161-RHD_HUMAN ENSP00000331871 for RHD Gene via IID STRING

Gene Ontology (GO) - Biological Process for RHD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015695 organic cation transport IBA --
GO:0015696 ammonium transport IEA --
GO:0072488 ammonium transmembrane transport IEA,IBA --
genes like me logo Genes that share ontologies with RHD: view

No data available for Pathways by source and SIGNOR curated interactions for RHD Gene

Drugs & Compounds for RHD Gene

(15) Drugs for RHD Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
SYM001 Investigational Pharma Target 0

(23) Additional Compounds for RHD Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RHD: view

Transcripts for RHD Gene

Unigene Clusters for RHD Gene

Rh blood group, D antigen:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for RHD Gene

No ASD Table

Relevant External Links for RHD Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RHD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RHD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RHD Gene

This gene is overexpressed in Whole Blood (x13.0).

Protein differential expression in normal tissues from HIPED for RHD Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RHD Gene

Protein tissue co-expression partners for RHD Gene

NURSA nuclear receptor signaling pathways regulating expression of RHD Gene:


SOURCE GeneReport for Unigene cluster for RHD Gene:


mRNA Expression by UniProt/SwissProt for RHD Gene:

Tissue specificity: Restricted to tissues or cell lines expressing erythroid characters.

Evidence on tissue expression from TISSUES for RHD Gene

  • Bone marrow(4.4)
  • Blood(3)
  • Nervous system(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RHD Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
Head and neck:
  • ear
  • eye
  • head
  • mouth
  • liver
  • blood
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with RHD: view

Primer Products

Orthologs for RHD Gene

This gene was present in the common ancestor of animals.

Orthologs for RHD Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia LOC456645 34
  • 96.32 (n)
-- 35
  • 92 (a)
-- 35
  • 91 (a)
-- 35
  • 90 (a)
(Canis familiaris)
Mammalia RHCE 34
  • 76.82 (n)
RH30 35
  • 61 (a)
(Bos Taurus)
Mammalia LOC282685 34
  • 73.86 (n)
-- 35
  • 58 (a)
(Mus musculus)
Mammalia Rhd 34 16 35
  • 70.46 (n)
(Rattus norvegicus)
Mammalia Rhd 34
  • 70.14 (n)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 53 (a)
(Monodelphis domestica)
Mammalia -- 35
  • 50 (a)
(Gallus gallus)
Aves RHD 34 35
  • 56.54 (n)
(Anolis carolinensis)
Reptilia -- 35
  • 41 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia rhd 34
  • 51.07 (n)
(Danio rerio)
Actinopterygii rhd 35
  • 34 (a)
fruit fly
(Drosophila melanogaster)
Insecta Rh50 35
  • 26 (a)
(Caenorhabditis elegans)
Secernentea rhr-1 35
  • 25 (a)
rhr-2 35
  • 25 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7075 35
  • 30 (a)
-- 35
  • 29 (a)
CSA.7848 35
  • 29 (a)
Species where no ortholog for RHD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RHD Gene

Gene Tree for RHD (if available)
Gene Tree for RHD (if available)

Paralogs for RHD Gene

Paralogs for RHD Gene

(13) SIMAP similar genes for RHD Gene using alignment to 247 proteins: Pseudogenes for RHD Gene

genes like me logo Genes that share paralogs with RHD: view

Variants for RHD Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for RHD Gene

RHD and RHCE are responsible for the Rh blood group system. The molecular basis of the Tar=Rh40 blood group antigen is a polymorphism in position 110.

Sequence variations from dbSNP and Humsavar for RHD Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_035615 A breast cancer sample
rs121912762 Pathogenic 25,284,753(+) CACAC(C/T)GTTCA intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
rs121912763 Pathogenic 25,303,329(+) TTATG(G/T)GCACA intron-variant, nc-transcript-variant, reference, missense
rs879255550 other 25,290,757(+) TTTAG(A/G)CAACC intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
rs1053355 untested 25,301,061(+) TCAGA(C/G)AGCAA intron-variant, nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for RHD Gene

Variant ID Type Subtype PubMed ID
dgv132n100 CNV gain 25217958
dgv133n100 CNV gain 25217958
dgv134n100 CNV gain 25217958
dgv135n100 CNV gain 25217958
dgv136n100 CNV loss 25217958
dgv137n100 CNV gain+loss 25217958
dgv138n100 CNV gain+loss 25217958
dgv139n100 CNV loss 25217958
dgv140n100 CNV gain 25217958
dgv141n100 CNV loss 25217958
dgv142n100 CNV gain 25217958
dgv200n54 CNV loss 21841781
dgv201n54 CNV loss 21841781
dgv202n54 CNV loss 21841781
dgv203n54 CNV loss 21841781
dgv204n54 CNV gain+loss 21841781
dgv205n54 CNV loss 21841781
dgv206n54 CNV loss 21841781
dgv207n54 CNV loss 21841781
dgv208n54 CNV loss 21841781
dgv209n54 CNV loss 21841781
dgv210n54 CNV loss 21841781
dgv32e199 CNV deletion 23128226
dgv3e180 CNV gain 20482838
dgv64n106 CNV duplication 24896259
esv22615 CNV gain+loss 19812545
esv2421857 CNV deletion 20811451
esv2451224 CNV loss 19546169
esv2656832 CNV deletion 23128226
esv2677880 CNV deletion 23128226
esv2745608 CNV deletion 23290073
esv2762632 CNV gain+loss 21179565
esv2764200 CNV gain+loss 21179565
esv29949 CNV gain 18421352
esv29997 CNV gain 17803354
esv32921 CNV gain+loss 17666407
esv3375696 CNV duplication 20981092
esv3576582 CNV gain 25503493
esv3584591 CNV loss 24956385
esv3585521 CNV loss 21293372
esv3585522 CNV gain 21293372
nsv1010001 CNV gain 25217958
nsv1077261 CNV deletion 25765185
nsv1077264 CNV deletion 25765185
nsv1116486 OTHER inversion 24896259
nsv1136071 CNV deletion 24896259
nsv1160536 CNV deletion 26073780
nsv232 CNV deletion 15895083
nsv433185 CNV loss 18776910
nsv442830 CNV loss 18776908
nsv482212 CNV gain 20164927
nsv498667 CNV loss 21111241
nsv499798 OTHER inversion 21111241
nsv513984 CNV gain 21397061
nsv545825 CNV loss 21841781
nsv545843 CNV loss 21841781
nsv545844 CNV loss 21841781
nsv545861 CNV gain 21841781
nsv545863 CNV loss 21841781
nsv7174 OTHER inversion 18451855
nsv7298 CNV deletion 18451855
nsv7409 CNV insertion 18451855
nsv820028 CNV gain 19587683
nsv821372 CNV deletion 20802225
nsv821617 CNV loss 15273396
nsv822143 CNV loss 20364138
nsv822154 CNV gain 20364138
nsv834469 CNV gain+loss 17160897
nsv834480 CNV gain 17160897
nsv945831 CNV duplication 23825009
nsv945832 CNV duplication 23825009
nsv945833 CNV duplication 23825009
nsv950324 CNV deletion 24416366
nsv9768 CNV gain+loss 18304495

Variation tolerance for RHD Gene

Residual Variation Intolerance Score: 99.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.07; 80.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RHD Gene

Human Gene Mutation Database (HGMD)
Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group System
SNPedia medical, phenotypic, and genealogical associations of SNPs for

Disorders for RHD Gene

MalaCards: The human disease database

(15) MalaCards diseases for RHD Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
anemia, hemolytic, rh-null, regulator type
  • rh-null, regulator type
skeletal muscle cancer
  • malignant tumor of skeletal muscle
fetal erythroblastosis
  • ef - erythroblastosis foetalis
congenital dyserythropoietic anemia
  • congenital dyshaematopoietic anaemia
hereditary spherocytosis
  • spherocytosis, type 1
- elite association - COSMIC cancer census association via MalaCards
Search RHD in MalaCards View complete list of genes associated with diseases

Relevant External Links for RHD

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with RHD: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RHD Gene

Publications for RHD Gene

  1. RHD gene polymorphism among RhD-negative Han Chinese. (PMID: 14570619) Xu Q. … Si G. (Chin. Med. J. 2003) 3 22 46 64
  2. Prenatal RHD gene determination and dosage analysis by PCR: clinical evaluation. (PMID: 11288127) Chan F.Y. … Hyland C.A. (Prenat. Diagn. 2001) 3 22 46 64
  3. Rh(D) antigen expression and isolation of a new Rh(D) cDNA isoform in human erythroleukemic K562 cells. (PMID: 8080999) Suyama K. … Goldstein J. (Blood 1994) 3 4 22 64
  4. Molecular cloning and primary structure of the human blood group RhD polypeptide. (PMID: 1438298) le van Kim C. … Colin Y. (Proc. Natl. Acad. Sci. U.S.A. 1992) 3 4 22 64
  5. Non-invasive foetal RHD genotyping via real-time PCR of foetal DNA from Chinese RhD-negative maternal plasma. (PMID: 19545247) Wang X.D. … He Z.M. (Eur. J. Clin. Invest. 2009) 3 46 64

Products for RHD Gene

Sources for RHD Gene

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