Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RHD Gene

protein-coding   GIFtS: 56
GCID: GC01P025599

Rh blood group, D antigen

(Previous names: Rhesus blood group, D antigen )
(Previous symbol: RH)
 Explore 54 diseases affiliated with
RHD via our new
 Human Malady Compendium 
Biological research products
for RHD
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Rh Blood Group, D Antigen1 2     RHCED2
CD240D1 2     RHDVA(TT)2
DIIIc1 2     RHDel2
RH1 2     RHPII2
Rh41 2     RhDCw2
RhII1 2     RhK562-II2
RhPI1 2     Blood Group Rh(D) Polypeptide2
Rh Polypeptide 22 3     D Antigen (DCS)2
Rhesus D Antigen2 3     Rh Blood Group Antigen Evans2
RHXIII2 3     Rhesus Blood Group D Antigen Allele DIII Type 72
Rh30a1     Rhesus System D Polypeptide2
Rhesus Blood Group, D Antigen1     RhPII3
RH302     CD240D Antigen3

External Ids:    HGNC: 100091   Entrez Gene: 60072   Ensembl: ENSG000001870107   OMIM: 1116805   UniProtKB: Q021613   

Export aliases for RHD gene to outside databases

Previous GC identifers: GC01M025154 GC01M024859 GC01M024598 GC01P025154 GC01P025344 GC01P025471 GC01P023853


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RHD:
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)

UniProtKB/Swiss-Prot: RHD_HUMAN, Q02161
Function: 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004610.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RHD gene promoter:
         SRF   SRF (504 AA)   Chx10   MyoD   STAT3   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRHD promoter sequence
   Search SABiosciences Chromatin IP Primers for RHD

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RHD


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.11   Ensembl cytogenetic band:  1p36.11   HGNC cytogenetic band: 1p36.11

RHD Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RHD gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P025599:  view genomic region     (about GC identifiers)

Start:
25,598,884 bp from pter      End:
25,656,936 bp from pter
Size:
58,053 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RHD_HUMAN, Q02161 (See protein sequence)
Recommended Name: Blood group Rh(D) polypeptide  
Size: 417 amino acids; 45211 Da
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: Q02162 Q07618 Q16147 Q16235 Q16355 Q5VSK0 Q9NPK0 Q9UQ20 Q9UQ21 Q9UQ22 Q9UQ23
Alternative splicing: 3 isoforms:  Q02161-1   Q02161-2   Q02161-3   

Explore the universe of human proteins at neXtProt for RHD: NX_Q02161

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q02161

  • RHD Protein expression data from MOPED and PaxDb:    About this image 
    RHD Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001121163.1  NP_057208.2  

    ENSEMBL proteins: 
     ENSP00000331871   ENSP00000413849   ENSP00000396420   ENSP00000350150   ENSP00000456966  
     ENSP00000339577   ENSP00000399640  

    Human Recombinant Protein Products for RHD: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: RHD
    OriGene Custom Protein Services for RHD 
    GenScript Custom Purified and Recombinant Proteins Services for RHD
    Novus Biologicals RHD Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for RHD

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral to plasma membrane TAS1438298
    GO:0016021integral to membrane ----

    RHD for ontologies           About GeneDecksing



    RHD Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of RHD
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for RHD 
    GenScript Superior Antibodies for RHD
    Abcam antibodies for RHD 
    Uscn Antibodies for RHD
    ThermoFisher Antibodies for RHD

    Assay Products for RHD: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for RHD
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for RHD


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    RHD for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR024041 NH4_transpt_AmtB-like_dom
     IPR002229 RhesusRHD

    Graphical View of Domain Structure for InterPro Entry Q02161

    ProtoNet protein and cluster: Q02161

    2 Blocks protein families:
    IPB002229 Rhesus blood group protein signature
    IPB010256 Rh-like protein/ammonium transporter


    UniProtKB/Swiss-Prot: RHD_HUMAN, Q02161
    Similarity: Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RHD_HUMAN, Q02161
    Function: May be part of an oligomeric complex which is likely to have a transport or channel function in the
    erythrocyte membrane

         Genatlas biochemistry entry for RHD:
    Rhesus blood group,locus D,absent in the Caucasian RHD-negative phenotype

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008519ammonium transmembrane transporter activity IEA--
         
    RHD for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Rhd):
     hematopoietic system  homeostasis/metabolism 

    RHD for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Rhdtm1Goo for RHD
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for RHD 

    miRNA
    Products:
        
    OriGene 3'-UTR Clone (see all 2): RHD
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RHD
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate RHD
    SwitchGear 3'UTR luciferase reporter plasmidRHD 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RHD (see all 7)
    OriGene shRNA RFP: RHD
    OriGene siRNA: RHD
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RHD
    Sirion Biotech Custom design and validation of potent shRNA sequences against RHD 

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for RHD
    Sirion Biotech Customized adenovirus for overexpression of RHD 
    Sirion Biotech Customized adenovirus for potent knockdown of RHD

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RHD (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RHD (see all 2)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): RHD (NM_016124)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RHD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RHD 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for RHD
    Search LifeMap BioReagents cell lines for RHD
    Sirion Biotech Customized stable knockdown cell line services for RHD 
    Sirion Biotech Customized inducible knockdown cell line services for RHD
    Sirion Biotech Customized stable overexpressing cell line services for RHD
    Sirion Biotech Customized inducible overexpressing cell line services for RHD

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHD


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RHD

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for RHD (Q021613 ENSP000003318714) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BAZ1BQ9UIG03, ENSP000003424344I2D: score=1 STRING: ENSP00000342434
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    RHD for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RHD
    10/37 Novoseek chemical compound relationships for RHD gene (see all 37)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    methylammonium 72.3 1 16584906 (1)
    amtb 58.9 2 16281947 (1), 16584906 (1)
    ammonium 42.7 10 16564193 (2), 11358367 (1), 19807729 (1), 16574457 (1) (see all 8)
    phenylhydrazine 39.8 2 2169881 (1), 7663379 (1)
    polyacrylamide 30.3 5 8140503 (1), 10901146 (1), 11076426 (1), 9234582 (1) (see all 5)
    dids 29 1 10077484 (1)
    phospholipid 20.3 6 9506954 (1), 1858342 (1), 8663431 (1), 9088993 (1) (see all 6)
    diamide 18.3 1 2168217 (1)
    nh4cl 13.7 2 17712059 (2)
    glyceraldehyde 3-phosphate 11.9 1 18721457 (1)

    1 PharmGKB related drug/compound annotation for RHD gene    About this table
    Drug/compound PharmGKB Annotation
    clomifeneDL  
    Search CenterWatch for drugs/clinical trials and news about RHD 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RHD gene (3 alternative transcripts): 
    NM_001127691.1  NM_016124.3  NM_016225.3  

    Unigene Cluster for RHD:

    Rh blood group, D antigen
    Hs.449968  [show with all ESTs]
    Unigene Representative Sequence: NM_016124
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000564398(uc010oep.2) ENST00000328664(uc001bjz.3 uc001bkc.3 uc009vrm.3 uc001bka.3 uc001bkb.3 uc009vrn.3 uc009vro.3 uc009vrp.3)
    ENST00000454452 ENST00000423253 ENST00000417538 ENST00000357542 ENST00000568195
    ENST00000342055 ENST00000423810

    miRNA
    Products:
         
    OriGene 3'-UTR Clone (see all 2): RHD
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RHD
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate RHD
    SwitchGear 3'UTR luciferase reporter plasmidRHD 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RHD (see all 7)
    OriGene shRNA RFP: RHD
    OriGene siRNA: RHD
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RHD
    Sirion Biotech Custom design and validation of potent shRNA sequences against RHD 
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RHD (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RHD (see all 2)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): RHD (NM_016124)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RHD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RHD 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RHD
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RHD
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RHD
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RHD

    Additional cDNA sequence: 

    AB018966.1 AB018967.1 AB018968.1 AB018969.1 AB037270.1 AB046420.1 AB049754.1 AF177938.1 
    AF187846.1 AF312679.1 AF510069.1 AF510070.1 AJ704215.2 AK297151.1 AM183924.3 AY449381.1 
    AY449382.1 AY449383.1 AY449384.1 AY449385.1 AY751491.1 AY751492.1 AY751493.1 AY751494.1 
    AY751495.1 AY751496.1 BC139922.1 DQ266353.1 DQ451878.1 EU557240.1 EU557241.1 EU661905.1 
    EU661906.1 EU661907.1 FN555129.1 FR745438.1 FR745439.1 FR745440.1 FR745441.1 HE657775.1 
    JF436967.1 JF436968.1 JN635688.1 JN635689.1 JQ065733.1 JQ424879.1 L08429.1 S57971.1 
    S70174.1 S73913.1 S78509.1 S82449.1 X63094.1 X63097.1 Z97026.1 

    11 DOTS entries:

    DT.456144  DT.100706780  DT.121396511  DT.121396578  DT.121396677  DT.40295556  DT.75124277  DT.121396509 
    DT.95159897  DT.95260805  DT.95351321 

    24/60 AceView cDNA sequences (see all 60):

    S73913 AI282496 NM_016225 NM_016124 BU662207 AB049754 AJ704215 BV204872 
    S82449 AF510070 AB018968 BV204878 AY449385 AY449384 BV204875 AF510069 
    BU664659 BV204870 BV204861 AB018969 AY449382 BV204863 BV204880 AB018966 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RHD expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    RHD Expression
    About this image
    See RHD Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RHD

    SOURCE GeneReport for Unigene cluster: Hs.449968

    UniProtKB/Swiss-Prot: RHD_HUMAN, Q02161
    Tissue specificity: Restricted to tissues or cell lines expressing erythroid characters

        SABiosciences Custom PCR Arrays for RHD
    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RHD
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RHD
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RHD
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RHD
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHD

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for RHD gene from 5/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves RHD1 Rh blood group, D antigen 55.86(n)
    42.71(a)
      395121  NM_204467.1  NP_989798.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    41(a)
    1 → many
    GL343703.1(120634-136096)
    zebrafish
    (Danio rerio)
    Actinopterygii rhd6
    Rh blood group, D antigen
    34(a)
    1 → many
    13(46116954-46143214)
    fruit fly
    (Drosophila melanogaster)
    Insecta Rh506
    Rh50
    26(a)
    possible ortholog
    3L(4910368-4919321)
    worm
    (Caenorhabditis elegans)
    Secernentea rhr-16
    rhr-26
    RH (Rhesus) antigen Related family member (rhr-2)
    25(a)
    23(a)
    many ↔ many
    many ↔ many
    V(5428144-5430415)
    V(11727880-11730142)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RHD gene
    RHCE1 2  RHAG2  RHBG2  RHCG2  
    13 SIMAP similar genes for RHD using alignment to 231 protein entries:     RHD_HUMAN (see all proteins):
    RhDCw    RhC    RhDTI    RhD    RHD/RHCE    RDH
    RhIVb(J)    RHCE    RH50    Rh50    RHAG    RHBG
    RHCG

    RHD for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for RHD
    PGOHUM00000259458


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: RHD_HUMAN, Q02161
    Polymorphism: 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


    10/1183 NCBI SNPs in RHD are shown (see all 1183    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219127621,2
    C,Fpathogenic23865307(+) CACACT/CGTTCA 4 /P /L mis12Minor allele frequency- C:0.00NA EU 5159
    rs1219127631,2
    C,Fpathogenic23883883(+) TTATGT/GGCACA 4 /G /V mis11Minor allele frequency- G:0.00NA 4246
    rs761432551,2
    F--23851218(+) ACACCG/CAGGTC 2 -- us2k11Minor allele frequency- C:0.50NA 4
    rs27655591,2
    C,H--23851364(+) ATGAAC/GTAAGT 2 -- us2k14Minor allele frequency- G:0.00NS EA 418
    rs25179791,2
    C--23852340(+) CCCAGG/ACAGAG 2 -- us2k12Minor allele frequency- A:0.00NA 4
    rs287108261,2
    C--23852735(+) GATCCG/ATTCCT 2 -- us2k13Minor allele frequency- A:0.00NA 6
    rs20729321,2
    C--23852807(-) TTTGAC/TACCCA 2 -- us2k14Minor allele frequency- T:0.33EA NA 1504
    rs5866701,2
    C--23853268(+) TGGAAC/AAGTGG 2 -- int11Minor allele frequency- A:0.50NA 2
    rs560134011,2
    C--23853314(+) GGCCTG/ATGGTT 2 -- int11Minor allele frequency- A:0.50NA 2
    rs558126181,2
    C--23853395(+) TGCACC/TGAAAT 2 -- int12Minor allele frequency- T:0.15CSA WA 120

    HapMap Linkage Disequilibrium report for RHD (25598884 - 25656936 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 21 variations for RHD
         15/20 CNVs (see all 20): 34802 31614 31613 0381 23271 58379 63322 74416 2047 97322 0257 0680 34801 6821 38078
         1 Inversion: 37098
    Human Gene Mutation Database (HGMD): RHD

    Locus Specific Mutation Databases (LSDB): RHD
    Blood Group Antigen Gene Mutation Database (BGMUT) blood group system

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RHD
    DNA2.0 Custom Variant and Variant Library Synthesis for RHD

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    RHD for disorders           About GeneDecksing

    OMIM gene information: 111680    OMIM disorders: --

    20/54 diseases for RHD (see all 54):    About MalaCards
    rh-negative blood type    rh isoimmunization    skeletal muscle neoplasm    beta thalassemia
    fundus albipunctatus    typhoid fever    spherocytosis    hydrops fetalis
    elliptocytosis    dyserythropoietic anemia    congenital dyserythropoietic anemia    jaundice
    autoimmune hemolytic anemia    hemolytic anemia    hereditary elliptocytosis    sickle cell disease
    hereditary spherocytosis    neonatal jaundice    obstructive jaundice    handedness

    4 diseases from the University of Copenhagen DISEASES database for RHD:
    Rhabdomyosarcoma     Rh isoimmunization     Anemia     Fundus albipunctatus

    10/35 Novoseek disease relationships for RHD gene (see all 35)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    spherocytosis hereditary 85.3 20 8140503 (2), 1295777 (1), 9844481 (1), 10766130 (1) (see all 19)
    hemolytic disease 75 8 7856682 (2), 19953292 (1), 11288127 (1), 14607035 (1) (see all 6)
    elliptocytosis hereditary 73.4 4 14695625 (1), 17414207 (1), 10037687 (1), 16985305 (1)
    spherocytosis 73.2 1 12719424 (1)
    anemia dyserythropoietic congenital 73.2 4 18166993 (1), 14533796 (1)
    anemia hemolytic 62.2 4 10766130 (1), 15961204 (1), 11102985 (1), 9235914 (1)
    rh hemolytic disease 58.3 7 16396876 (1), 15961204 (1)
    protein deficiency 46.7 3 12828006 (1), 14636652 (1), 15279669 (1)
    hemolysis 45 2 9504940 (1), 19704946 (1)
    anemia 30.2 5 9504940 (1), 18166993 (1), 19508687 (1), 14533796 (1)

    Genetic Association Database (GAD): RHD
    Human Genome Epidemiology (HuGE) Navigator: RHD (65 documents)

    Export disorders for RHD gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RHD gene, integrated from 9 sources (see all 334):
    (articles sorted by number of sources associating them with RHD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. RHD gene polymorphism among RhD-negative Han Chinese. (PubMed id 14570619)1, 4, 9 Xu Q....Si G. (2003)
    2. Prenatal RHD gene determination and dosage analysis by PCR: clinical evaluation. (PubMed id 11288127)1, 4, 9 Chan F.Y....Hyland C.A. (2001)
    3. Rh(D) antigen expression and isolation of a new Rh(D) cDNA isoform in human erythroleukemic K562 cells. (PubMed id 8080999)1, 2, 9 Suyama K.... Goldstein J. (1994)
    4. Molecular cloning and primary structure of the human blood group RhD polypeptide. (PubMed id 1438298)1, 2, 9 le van Kim C.... Colin Y. (1992)
    5. Random survey for RHD alleles among D+ European persons. (PubMed id 15987365)1, 4 Chen Q. and Flegel W.A. (2005)
    6. RhD variants in Caucasians: consequences for checking clinically relevant alleles. (PubMed id 15318849)1, 4 Ansart-Pirenne H....Noizat-Pirenne F. (2004)
    7. Genetic characterization of the population of Grande Comore Island (Njazidja) according to major blood groups. (PubMed id 15754970)1, 4 Chiaroni J....Boetsch G. (2004)
    8. [Gene frequencies and heterozygosity of the AB0 and RH blood group alleles in the populations of two cities of the Donetsk region, Ukraine] (PubMed id 12760254)1, 4 Mukhin V.N....Afanas'ev M.V. (2003)
    9. Fetal RHD genotyping in maternal serum during the first trimester of pregnancy. (PubMed id 12358932)1, 4 Costa J.M....Gautier E. (2002)
    10. RHD maternal-fetal genotype incompatibility increases schizophrenia susceptibility. (PubMed id 12439825)1, 4 Palmer C.G....Woodward J.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6007 HGNC: 10009 AceView: RHD Ensembl:ENSG00000187010 euGenes: HUgn6007
    ECgene: RHD H-InvDB: RHD

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RHD Pharmacogenomics, SNPs, Pathways
    dbRBC/BGMUThttp://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=rh
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RHD

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RHD gene:
    Search GeneIP for patents involving RHD

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

     EMD Millipore Mono- and Polyclonal Antibodies for the study of RHD
     Browse for Gene Knock-down Tools from EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     Browse Small Molecules at EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for RHD  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RHD   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RHD  
     OriGene Protein Over-expression Lysate for RHD   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for RHD   OriGene 3'-UTR Clone for RHD  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RHD   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RHD  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for RHD   OriGene Custom Protein Services for RHD  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat RHD
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RHD
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RHD
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RHD
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RHD
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RHD
     GenScript Custom Purified and Recombinant Proteins Services for RHD GenScript cDNA clones with any tag delivered in your preferred vector for RHD
     GenScript Custom Assay Services for RHD GenScript Superior Antibodies for RHD
     GenScript Custom overexpressing Cell Line Services for RHD CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in RHD promoter
     Search Chromatin IP Primers for RHD
     RT2 qPCR Primer Assay in human, mouse, rat RHD
     GNC Network for RHD
     SABiosciences Custom PCR Arrays for RHD
     Search Tocris compounds for RHD
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     RHD lysates
     Antibodies for RHD
     See all of Abcam's Antibodies, Kits and Proteins for RHD
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     RHD Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for RHD
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHD
     SwitchGear 3'UTR luciferase reporter plasmids for RHD
     SwitchGear Promoter luciferase reporter plasmids for RHD
     ThermoFisher Antibodies for RHD
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RHD
     inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for RHD
    Sirion Biotech Customized:
     stable knockdown cell line services for RHD
     inducible knockdown cell line services for RHD
     design and validation of potent shRNA sequences against RHD
     adenovirus for potent knockdown of RHD
     adenovirus for overexpression of RHD
     stable overexpressing cell line services for RHD
     inducible overexpressing cell line services for RHD
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      RHD gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4