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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
  • RhD Antigen 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 Rh-Null, Regulator Type and Hair Whorl. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for RHD Gene

Promoters and enhancers for RHD Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I025275 Promoter/Enhancer 1.1 EPDnew dbSUPER 550.8 +0.1 97 0.1 TAL1 CBFA2T3 MNT DPF2 E4F1 ZNF592 TCF12 NCOR1 HDAC2 SMARCA4 RHD LOC105376882 RSRP1
GH01I025271 Enhancer 0.6 dbSUPER 563.8 -0.4 -442 0.8 TAL1 CBFA2T3 MNT DPF2 E4F1 ZNF592 TCF12 NCOR1 ZNF184 HDAC2 RHD ENSG00000261349 LOC105376882 RSRP1
GH01I025272 Enhancer 0.4 dbSUPER 550.8 -0.9 -888 0.1 MGA ZNF592 RHD ENSG00000261349 LOC105376882 RSRP1
GH01I025277 Enhancer 0.3 dbSUPER 563.6 +0.5 510 0.3 MLLT1 RHD LOC105376882 RSRP1
GH01I025279 Enhancer 0.3 dbSUPER 550.8 +0.7 708 0.1 MLLT1 LOC105376882 RHD RSRP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RHD on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RHD gene promoter:

Genomic Locations for RHD Gene

Genomic Locations for RHD Gene
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

Human Protein Atlas (HPA):
  • Blood group antigen proteins
  • CD markers
  • Predicted membrane proteins
  • Transporters

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.

Phenotypes From GWAS Catalog for RHD Gene

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

Clone 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RHD Gene

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:0006810 transport IEA --
GO:0015695 organic cation transport IBA --
GO:0015696 ammonium transport IEA --
GO:0072488 ammonium transmembrane transport IBA,IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Human Rho(D) immune globulin Approved, Investigational Pharma Target, antibody 0
SYM001 Investigational Pharma Target 0

(22) 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:

Clone 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

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 33
  • 96.32 (n)
-- 34
  • 92 (a)
-- 34
  • 91 (a)
-- 34
  • 90 (a)
(Canis familiaris)
Mammalia RHCE 33
  • 76.82 (n)
RH30 34
  • 61 (a)
(Bos Taurus)
Mammalia LOC282685 33
  • 73.86 (n)
-- 34
  • 58 (a)
(Mus musculus)
Mammalia Rhd 33 16 34
  • 70.46 (n)
(Rattus norvegicus)
Mammalia Rhd 33
  • 70.14 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 53 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 50 (a)
(Gallus gallus)
Aves RHD 33 34
  • 56.54 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 41 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia rhd 33
  • 51.07 (n)
(Danio rerio)
Actinopterygii rhd 34
  • 34 (a)
fruit fly
(Drosophila melanogaster)
Insecta Rh50 34
  • 26 (a)
(Caenorhabditis elegans)
Secernentea rhr-1 34
  • 25 (a)
rhr-2 34
  • 25 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7075 34
  • 30 (a)
-- 34
  • 29 (a)
CSA.7848 34
  • 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 Variation AA Info Type
rs1053355 not-provided, Weak RhD expression 25,301,061(+) C/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1053356 not-provided, Weak RhD expression 25,301,552(+) T/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1053359 not-provided, Weak RhD expression 25,301,582(+) G/A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1053362 not-provided, Weak RhD expression 25,301,629(+) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs121912762 pathogenic, RhD category D-VII 25,284,753(+) T/C 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant

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)

Additional Variant Information 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

SNP Genotyping and Copy Number Assay Products

Disorders for RHD Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
rh-null, regulator type
  • rhn
hair whorl
  • cowlick; crown
skeletal muscle cancer
  • malignant tumor of skeletal muscle
congenital dyserythropoietic anemia
  • cda
hereditary spherocytosis
  • congenital spherocytic hemolytic anemia
- elite association - COSMIC cancer census association via MalaCards
Search RHD in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RHD

Genetic Association Database
Human Genome Epidemiology 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 (Chinese medical journal 2003) 3 22 44 58
  2. Prenatal RHD gene determination and dosage analysis by PCR: clinical evaluation. (PMID: 11288127) Chan FY … Hyland CA (Prenatal diagnosis 2001) 3 22 44 58
  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 58
  4. Molecular cloning and primary structure of the human blood group RhD polypeptide. (PMID: 1438298) Le van Kim C … Colin Y (Proceedings of the National Academy of Sciences of the United States of America 1992) 3 4 22 58
  5. Non-invasive foetal RHD genotyping via real-time PCR of foetal DNA from Chinese RhD-negative maternal plasma. (PMID: 19545247) Wang XD … He ZM (European journal of clinical investigation 2009) 3 44 58

Products for RHD Gene

Sources for RHD Gene

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