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Aliases for RHD Gene

Aliases for RHD Gene

  • Rh Blood Group, D Antigen 2 3
  • Rhesus D Antigen 3 4
  • RHXIII 3 4
  • RHPII 3 4
  • Rhesus Blood Group D Antigen Allele DIII Type 7 3
  • Rhesus Blood Group, D Antigen 2
  • Blood Group Rh(D) Polypeptide 3
  • Rh Blood Group Antigen Evans 3
  • Rhesus System D Polypeptide 3
  • Rh Blood Group, D Anitgen 3
  • Blood Group Antigen D 3
  • RH Polypeptide 2 3
  • Rh Polypeptide 2 4
  • D Antigen (DCS) 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 Symbols for RHD Gene

  • RH

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 uremia and hereditary elliptocytosis. 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

Genomic Location for RHD Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RHD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RHD Gene

Regulatory Elements for RHD Gene

Proteins for RHD Gene

  • 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

neXtProt entry for RHD Gene

Proteomics data for RHD Gene at MOPED

Post-translational modifications for RHD Gene

No Post-translational modifications

No data available for DME Specific Peptides for RHD Gene

Domains for RHD Gene

Gene Families for RHD Gene

HGNC:

UniProtKB/Swiss-Prot:

RHD_HUMAN
Family:
  • Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily.:
    • Q02161
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 IEA --
genes like me logo Genes that share ontologies with RHD: view

Phenotypes for RHD Gene

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

Animal Models for RHD Gene

MGI Knock Outs for RHD:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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 4
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:0005887 integral component of plasma membrane TAS 1438298
GO:0016020 membrane --
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with RHD: view

Pathways for RHD Gene

SuperPathways for RHD Gene

No Data Available

Interacting Proteins for RHD Gene

Gene Ontology (GO) - Biological Process for RHD Gene

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

No data available for Pathways by source for RHD Gene

Compounds for RHD Gene

(37) Novoseek inferred chemical compound relationships for RHD Gene

Compound -log(P) Hits PubMed IDs
methylammonium 72.3 1
amtb 58.9 2
ammonium 42.7 9
phenylhydrazine 39.8 2
polyacrylamide 30.3 5

(1) PharmGKB related drug/compound annotations for RHD Gene

Drug/compound Annotation
clomifene
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:

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

mRNA expression in normal human tissues 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 (13.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, 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 expressions 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
chimpanzee
(Pan troglodytes)
Mammalia -- 37
  • 90 (a)
ManyToMany
-- 37
  • 92 (a)
ManyToMany
-- 37
  • 91 (a)
ManyToMany
LOC456645 36
  • 96.32 (n)
  • 91.13 (a)
cow
(Bos Taurus)
Mammalia -- 37
  • 58 (a)
OneToMany
LOC282685 36
  • 73.86 (n)
  • 58.27 (a)
dog
(Canis familiaris)
Mammalia RH30 37
  • 61 (a)
OneToMany
RHCE 36
  • 76.82 (n)
  • 61.39 (a)
mouse
(Mus musculus)
Mammalia Rhd 36
  • 70.46 (n)
  • 57.87 (a)
Rhd 16
Rhd 37
  • 57 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 50 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 53 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Rhd 36
  • 70.14 (n)
  • 56.42 (a)
chicken
(Gallus gallus)
Aves RHD 36
  • 56.54 (n)
  • 43.29 (a)
RHD 37
  • 42 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 41 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia rhd 36
  • 51.07 (n)
  • 37.62 (a)
zebrafish
(Danio rerio)
Actinopterygii rhd 37
  • 34 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Rh50 37
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rhr-1 37
  • 25 (a)
ManyToMany
rhr-2 37
  • 25 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 29 (a)
ManyToMany
CSA.7075 37
  • 30 (a)
ManyToMany
CSA.7848 37
  • 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

Selected 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

Q02161-RHD_HUMAN
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 MAF
rs582506 -- 25,283,960(-) TTCCC(A/G)GTCTC intron-variant
rs582879 -- 25,283,912(-) AGAGA(C/T)GCACC intron-variant
rs584015 -- 25,278,708(+) CCATA(C/T)TCCTC intron-variant
rs584132 -- 25,303,563(+) GGTGT(C/T)GGCGC intron-variant
rs584143 -- 25,303,566(+) GTCGG(C/T)GCATT intron-variant

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

Relevant External Links for RHD Gene

HapMap Linkage Disequilibrium report
RHD
Human Gene Mutation Database (HGMD)
RHD
Locus Specific Mutation Databases (LSDB)
RHD
Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group

Disorders for RHD Gene

(5) University of Copenhagen DISEASES for RHD Gene

(35) Novoseek inferred disease relationships for RHD Gene

Disease -log(P) Hits PubMed IDs
spherocytosis hereditary 85.3 20
hemolytic disease 75 7
elliptocytosis hereditary 73.4 4
spherocytosis 73.2 1
anemia dyserythropoietic congenital 73.2 2

Relevant External Links for RHD

Genetic Association Database (GAD)
RHD
Human Genome Epidemiology (HuGE) Navigator
RHD
genes like me logo Genes that share disorders with RHD: view

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

Publications for RHD Gene

  1. 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 23
  2. 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 23
  3. Prenatal RHD gene determination and dosage analysis by PCR: clinical evaluation. (PMID: 11288127) Chan F.Y. … Hyland C.A. (Prenat. Diagn. 2001) 3 23 49
  4. RHD gene polymorphism among RhD-negative Han Chinese. (PMID: 14570619) Xu Q. … Si G. (Chin. Med. J. 2003) 3 23 49
  5. 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

Products for RHD Gene

Sources for RHD Gene

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