Free for academic non-profit institutions. Other users need a Commercial license

RHD Gene(Protein Coding)

Rh Blood Group D Antigen

GCID:
GC01P025272
GIFtS:
59
Genes Participants
UDN Logo

Aliases for RHD Gene

Aliases for RHD Gene

  • Rh Blood Group D Antigen 2 3
  • Rh Blood Group, D Antigen 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
  • Rhesus Blood Group, D Antigen 2
  • Rh Blood Group Antigen Evans 3
  • Rhesus System D Polypeptide 3
  • Rh Blood Group, D Anitgen 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
  • 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 Deficiency Syndrome 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RHD Gene

Genomics for RHD Gene

Products:

  1. Regulatory Element

Regulatory Elements for RHD Gene

Enhancers for RHD Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RHD on UCSC Golden Path with GeneCards custom track

Promoters for RHD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RHD on UCSC Golden Path with GeneCards custom track

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

Genomic Location for RHD Gene

Chromosome:
1
Start:
25,272,393 bp from pter
End:
25,330,445 bp from pter
Size:
58,053 bases
Orientation:
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 Structure • Gene Density

RefSeq DNA sequence for RHD Gene

Proteins for RHD Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

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

    Protein Symbol:
    Q02161-RHD_HUMAN
    Recommended name:
    Blood group Rh(D) polypeptide
    Protein Accession:
    Q02161
    Secondary Accessions:
    • Q02162
    • Q07618
    • Q16147
    • Q16235
    • Q16355
    • Q5VSK0
    • Q5XLS9
    • Q5XLT1
    • Q5XLT2
    • Q9NPK0
    • Q9UQ20
    • Q9UQ21
    • Q9UQ22
    • Q9UQ23

    Protein attributes for RHD Gene

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

    Alternative splice isoforms for RHD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RHD Gene

Proteomics data for RHD Gene at MOPED

Protein Expression for RHD Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for RHD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RHD Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RHD Gene

Domains & Families for RHD Gene

Gene Families for RHD Gene

HGNC:

Protein Domains for RHD Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for RHD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q02161

UniProtKB/Swiss-Prot:

RHD_HUMAN :
  • Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily.
Family:
  • 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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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 for RHD Gene

MGI mutant phenotypes for RHD:
inferred from 1 alleles
GenomeRNAi human phenotypes for RHD:
genes like me logo Genes that share phenotypes with RHD: view

Human Phenotype Ontology for RHD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RHD Gene

MGI Knock Outs for RHD:

Animal Model Products

miRNA for RHD Gene

miRTarBase miRNAs that target RHD

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
Jensen Localization Image for RHD Gene COMPARTMENTS Subcellular localization image for RHD gene
Compartment Confidence
plasma membrane 5
cytosol 2
cytoskeleton 1
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1
nucleus 1

Gene Ontology (GO) - Cellular Components for RHD Gene

GO ID Qualified GO term Evidence PubMed IDs
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

SuperPathways for RHD Gene

PathCards logoMore details on SuperPathways for RHD
No Data Available

Interacting Proteins for RHD Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 6)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000331871%0d%0a9606.ENSP00000233969%0d%0a9606.ENSP00000299798%0d%0a9606.ENSP00000264938%0d%0a9606.ENSP00000263980%0d%0a9606.ENSP00000295269%0d%0a
Selected Interacting proteins: ENSP00000331871 Q02161-RHD_HUMAN for RHD Gene via STRING I2D

Gene Ontology (GO) - Biological Process for RHD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015695 organic cation transport IBA --
GO:0019740 nitrogen utilization IBA --
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

Products:

  1. Drug

(14) Drugs for RHD Gene - From: DrugBank, PharmGKB, and Novoseek

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

(25) 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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for RHD Gene

(10) REFSEQ mRNAs :
(56) Additional mRNA sequences :
(60) Selected AceView cDNA sequences:
(11) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RHD Gene

Rh blood group, D antigen:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for RHD Gene

GeneLoc Exon Structure for
RHD
ECgene alternative splicing isoforms for
RHD

Expression for RHD Gene

Products:

  1. Primer

mRNA expression in normal human tissues for RHD Gene

mRNA expression in normal human tissues for RHD Gene
mRNA expression by BioGPS for RHD GenemRNA expression by GTEx 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 and MOPED for RHD Gene



SOURCE GeneReport for Unigene cluster for RHD Gene Hs.449968

mRNA Expression by UniProt/SwissProt for RHD Gene

Q02161-RHD_HUMAN
Tissue specificity: Restricted to tissues or cell lines expressing erythroid characters.
genes like me logo Genes that share expression patterns with RHD: view

Protein tissue co-expression partners for RHD Gene

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
cow
(Bos Taurus)
 Mammalia LOC282685 35
  • 73.86 (n)
  • 58.27 (a)
-- 36
  • 58 (a)
 OneToMany
dog
(Canis familiaris)
 Mammalia RHCE 35
  • 76.82 (n)
  • 61.39 (a)
RH30 36
  • 61 (a)
 OneToMany
mouse
(Mus musculus)
 Mammalia Rhd 35
  • 70.46 (n)
  • 57.87 (a)
Rhd 16
Rhd 36
  • 57 (a)
 OneToMany
chimpanzee
(Pan troglodytes)
 Mammalia LOC456645 35
  • 96.32 (n)
  • 91.13 (a)
-- 36
  • 90 (a)
 ManyToMany
-- 36
  • 92 (a)
 ManyToMany
-- 36
  • 91 (a)
 ManyToMany
rat
(Rattus norvegicus)
 Mammalia Rhd 35
  • 70.14 (n)
  • 56.42 (a)
oppossum
(Monodelphis domestica)
 Mammalia -- 36
  • 50 (a)
 OneToMany
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 36
  • 53 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves RHD 35
  • 56.54 (n)
  • 43.29 (a)
RHD 36
  • 42 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 36
  • 41 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia rhd 35
  • 51.07 (n)
  • 37.62 (a)
zebrafish
(Danio rerio)
 Actinopterygii rhd 36
  • 34 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta Rh50 36
  • 26 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea rhr-1 36
  • 25 (a)
 ManyToMany
rhr-2 36
  • 25 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 36
  • 29 (a)
 ManyToMany
CSA.7075 36
  • 30 (a)
 ManyToMany
CSA.7848 36
  • 29 (a)
 ManyToMany
Species with no ortholog for RHD:
  • 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

ENSEMBL:
Gene Tree for RHD (if available)
TreeFam:
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.org 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_HUMAN-Q02161
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_006919 -
VAR_006920 -
VAR_013304 -
VAR_013305 -
VAR_013306 -

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

Variant ID Type Subtype PubMed ID
nsv7298 CNV Loss 18451855
nsv232 CNV Loss 15895083
nsv834469 CNV Gain+Loss 17160897
nsv9768 CNV Gain+Loss 18304495
nsv822143 CNV Loss 20364138
nsv821372 CNV Deletion 20802225
esv22615 CNV Gain+Loss 19812545
esv32921 CNV Gain+Loss 17666407
dgv3e180 CNV Gain 20482838
esv2745608 CNV Deletion 23290073
esv2421857 CNV Deletion 20811451
dgv199n71 CNV Loss 21882294
nsv433185 CNV Loss 18776910
nsv820028 CNV Gain 19587683
esv2677880 CNV Deletion 23128226
nsv498667 CNV Loss 21111241
esv2656832 CNV Deletion 23128226
nsv7174 OTHER Inversion 18451855
nsv513984 CNV Gain 21397061
nsv442830 CNV CNV 18776908
nsv7409 CNV Insertion 18451855
nsv822154 CNV Gain 20364138
esv2451224 CNV Loss 19546169
nsv482212 CNV Gain 20164927
esv29949 CNV Gain 18421352
dgv32e199 CNV Deletion 23128226
esv29997 CNV Gain 17803354
nsv821617 CNV Loss 15273396
nsv834480 CNV Gain 17160897
nsv499798 OTHER Inversion 21111241

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)
RHD
Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group System

Disorders for RHD Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
rh deficiency syndrome
  • rh-null syndrome
skeletal muscle cancer
  • malignant tumor of skeletal muscle
fetal erythroblastosis
  • ef - erythroblastosis foetalis
hereditary spherocytosis
  • spherocytosis, type 1
appendiceal neoplasm
  • appendix neoplasm
- 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)
RHD
Human Genome Epidemiology (HuGE) Navigator
RHD
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RHD
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 23 48 67
  2. Hydrophobic cluster analysis and modeling of the human Rh protein three-dimensional structures. (PMID: 16584906) Callebaut I. … Cartron J.P. (Transfus Clin Biol 2006) 3 23
  3. Novel weak D types 31 and 32: adsorption-elution-supported D antigen analysis and comparison to prevalent weak D types. (PMID: 16181207) KAPrmAPczi G.F. … Gassner C. (Transfusion 2005) 3 23
  4. The RHCE allele ceRT: D epitope 6 expression does not require D- specific amino acids. (PMID: 12919427) Wagner F.F. … Flegel W.A. (Transfusion 2003) 3 23
  5. Prenatal RHD gene determination and dosage analysis by PCR: clinical evaluation. (PMID: 11288127) Chan F.Y. … Hyland C.A. (Prenat. Diagn. 2001) 3 23

Products for RHD Gene

Sources for RHD Gene

Content