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RHCE Gene

protein-coding   GIFtS: 55
GCID: GC01M025688

Rh Blood Group, CcEe Antigens

(Previous names: Rhesus blood group, CcEe antigens)
(Previous symbol: RH)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Rh Blood Group, CcEe Antigens1 2     Rh Blood Group Antigen Evans2
RH1 2     Rh Blood Group C Antigen2
Rh Polypeptide 12 3     Rh Polypeptide I2
Rhesus C/E Antigens2 3     RHCE Blood Group Variant Crawford Antigen Rh432
RHC2 3     Rhesus Blood Group Antigen, RhC Antigen2
RHE2 3     Rhesus Blood Group CE Protein2
Rhesus Blood Group, CcEe Antigens1     Rhesus Blood Group E Antigen2
CD240CE2     Rhesus Blood Group Little E Antigen2
RH30A2     Rhesus Blood Group Rhce Antigen2
RHIXB2     Rhesus System C And E Polypeptides2
RHPI2     Silenced Rh Blood Group CcEe Antigen2
Rh42     Truncated RHCE2
RhIVb(J)2     Rh30A3
RhVI2     RhIXB3
RhVIII2     RhPI3
Blood Group Rh(CE) Polypeptide2     CD240CE Antigen3
Blood Group RhCcEe Antigen2     

External Ids:    HGNC: 100081   Entrez Gene: 60062   Ensembl: ENSG000001886727   OMIM: 1117005   UniProtKB: P185773   

Export aliases for RHCE gene to outside databases

Previous GC identifers: GC01M025155 GC01M024671 GC01M024597 GC01M024969 GC01M025434 GC01M025561 GC01M023942


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RHCE 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 both the RhC and RhE antigens on a single
polypeptide and a second gene which encodes the RhD protein. 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. A mutation in this gene results in amorph-type Rh-null disease. Alternative splicing of this gene
results in four transcript variants encoding four different isoforms. (provided by RefSeq, Jul 2008)

GeneCards Summary for RHCE Gene:
RHCE (Rh blood group, CcEe antigens) is a protein-coding gene. Diseases associated with RHCE include appendiceal neoplasm, and rh-null disease, amorph type. GO annotations related to this gene include ammonium transmembrane transporter activity. An important paralog of this gene is RHBG.

UniProtKB/Swiss-Prot: RHCE_HUMAN, P18577
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 RHCE Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RHCE gene promoter:
         CREB   AREB6   Pax-4a   NF-Y   CBF(2)   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRHCE promoter sequence
   Search Chromatin IP Primers for RHCE

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RHCE


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

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M025688:  view genomic region     (about GC identifiers)

Start:
25,688,740 bp from pter      End:
25,756,683 bp from pter
Size:
67,944 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: RHCE_HUMAN, P18577 (See protein sequence)
Recommended Name: Blood group Rh(CE) polypeptide  
Size: 417 amino acids; 45560 Da
Secondary accessions: A7DW68 B7UDF3 B7UDF4 B7UDF5 B7UDF6 B7UDF7 B7UDF8 B7UDF9 B7UDG0 B7UDG1
B7UDG2 B7UDG3 Q02163 Q02164 Q02165 Q16160 Q2MJW0 Q2VC86 Q3LTM6 Q6AZX5 Q6J2U3 Q7RU06 Q8IZT2
Q8IZT3 Q8IZT4 Q8IZT5 Q9UD13 Q9UD14 Q9UD15 Q9UD16 Q9UD73 Q9UD74 Q9UEC2 Q9UEC3 Q9UPN0
Alternative splicing: 14 isoforms:  P18577-1   P18577-2   P18577-3   P18577-4   P18577-5   P18577-6   P18577-7   P18577-8   
P18577-9   P18577-10   P18577-11   P18577-12   P18577-13   P18577-14   

Explore the universe of human proteins at neXtProt for RHCE: NX_P18577

Explore proteomics data for RHCE at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RHCE Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_065231.3  NP_619522.3  NP_619523.3  NP_619524.3  

    ENSEMBL proteins: 
     ENSP00000294413   ENSP00000345084   ENSP00000311185   ENSP00000431741   ENSP00000344485  
     ENSP00000334570   ENSP00000435401   ENSP00000415417   ENSP00000416275   ENSP00000363472  
     ENSP00000243186   ENSP00000392809  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules
    bloodgroup: Blood group antigens

    2 InterPro protein domains:
     IPR024041 NH4_transpt_AmtB-like_dom
     IPR002229 RhesusRHD

    Graphical View of Domain Structure for InterPro Entry P18577

    ProtoNet protein and cluster: P18577

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


    UniProtKB/Swiss-Prot: RHCE_HUMAN, P18577
    Similarity: Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily


    RHCE for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RHCE_HUMAN, P18577
    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 RHCE:
    Rhesus blood group,locus CE,RH30 glycoprotein

         Gene Ontology (GO): 1 molecular function term:    About this table

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


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RHCE
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RHCE
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHCE


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RHCE_HUMAN, P18577: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    endoplasmic reticulum1
    extracellular1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral component of plasma membrane TAS1438298
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----

    RHCE for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RHCE
    Interactions:

        GeneGlobe Interaction Network for RHCE

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015696ammonium transport ----

    RHCE for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RHCE

    1 Novoseek inferred chemical compound relationship for RHCE gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    deoxyribonucleic acid 25.1 2 7824249 (1)



    RHCE for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RHCE gene (4 alternative transcripts): 
    NM_020485.4  NM_138616.3  NM_138617.3  NM_138618.3  

    Unigene Cluster for RHCE:

    Rh blood group, CcEe antigens
    Hs.523054  [show with all ESTs]
    Unigene Representative Sequence: NM_020485
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000294413 ENST00000340849 ENST00000349320(uc001bkj.3) ENST00000527747
    ENST00000346452 ENST00000349438 ENST00000527187 ENST00000533771 ENST00000495048
    ENST00000413854 ENST00000455194(uc001bkh.3 uc001bki.3) ENST00000374352
    ENST00000243186(uc001bkf.3 uc001bkg.3) ENST00000425135
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidRHCE 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RHCE
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RHCE
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RHCE
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RHCE
      QuantiTect SYBR Green Assays in human, mouse, rat RHCE
      QuantiFast Probe-based Assays in human, mouse, rat RHCE

    Additional mRNA sequence: 

    AB018644.1 AB018645.1 AB030388.1 AB049753.1 AF056965.1 AF510065.1 AF510066.1 AF510067.1 
    AF510068.1 AM295498.2 AM295506.2 AY603478.1 BC075081.2 BC139905.1 DQ178642.1 DQ266400.1 
    DQ322275.1 FR691748.1 FR691749.1 FR691750.1 GU474431.1 GU563377.1 GU810838.1 HE572747.1 
    HQ711843.1 HQ711844.1 HQ711846.1 HQ711847.1 M34015.1 S57967.1 X54534.1 X63095.1 
    X63096.1 X63098.1 

    16 DOTS entries:

    DT.75124277  DT.95159897  DT.121396511  DT.95260805  DT.100706780  DT.100880337  DT.100880329  DT.121396509 
    DT.305512  DT.92059273  DT.100880338  DT.95159906  DT.40295556  DT.40315244  DT.456144  DT.95351321 

    Selected AceView cDNA sequences (see all 98):

    BM684087 BX406173 BM907493 BM719724 BF081304 BV204866 AA722534 BV204888 
    BC075081 AF510068 BU665450 X63098 AF510066 BV183320 BU661907 BV204868 
    X54534 AA836138 AK127547 AB049753 BV183327 AF510067 NM_020485 AW170194 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RHCE (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c
    SP1:                                      -     -                                                                           
    SP2:                                      -     -                                         -                                 
    SP3:                                                                    -     -     -                                       
    SP4:                                            -                                                                           
    SP5:                    -     -     -           -                                                                           


    ECgene alternative splicing isoforms for RHCE

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RHCE expression in normal human tissues (normalized intensities)      RHCE embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACAGCAAAGT
    RHCE Expression
    About this image


    RHCE expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 5 entries
             Erythroblasts Hematopoietic Bone Marrow
             Bone Marrow CD105+ Cells   
             umbilical cord reticulocytes   
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Bone Marrow
             bone marrow   
     
     Umbilical Cord (Extraembryonic Tissues)
             umbilical cord reticulocytes   
     
     Liver (Hepatobiliary System)
    RHCE Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RHCE Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.523054

    UniProtKB/Swiss-Prot: RHCE_HUMAN, P18577
    Tissue specificity: Restricted to tissues or cell lines expressing erythroid characters. Isoform 4g and isoform
    RhPI-Alpha are expressed in immature erythroblasts but not in mature erythroblasts

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    In Situ
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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for RHCE gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rhd1 Rh blood group, D antigen 71.43(n)
    58.35(a)
      19746  NM_011270.3  NP_035400.3 
    chicken
    (Gallus gallus)
    Aves RHD1 Rh blood group, D antigen 57(n)
    43.77(a)
      395121  NM_204467.1  NP_989798.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    41(a)
    1 → many
    GL343703.1(120008-136413)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia rhd1 Rh blood group, D antigen 51.07(n)
    36.88(a)
      100038092  XM_002936599.2  XP_002936645.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rhd6
    Rh blood group, D antigen
    34(a)
    1 → many
    13(46116954-46143214) ENSDARG00000002194
    fruit fly
    (Drosophila melanogaster)
    Insecta Rh506
    Rh50
    26(a)
    1 → many
    3L(4910368-4919321)
    worm
    (Caenorhabditis elegans)
    Secernentea rhr-26
    rhr-16
    Protein RHR-1 (rhr-1) mRNA, complete cds
    25(a)
    25(a)
    many ↔ many
    many ↔ many
    V(11727898-11730160) WBGene00004359
    V(5428160-5430431) WBGene00004358


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RHCE gene
    RHD1 2  RHBG2  RHAG2  RHCG2  
    13 SIMAP similar genes for RHCE using alignment to 79 protein entries:     RHCE_HUMAN (see all proteins):
    RHD/RHCE    RhC    RhDCw    RhCE    RDH    RhIVb(J)
    RHD    RhD    RhDTI    RH50    RHAG    RHBG
    RHCG

    RHCE for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for RHCE
    PGOHUM00000244639


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    RHCE_HUMAN, P18577: RhCE and RhD are responsible for the RH blood group system. The molecular basis of the E=Rh3/e=Rh5
    blood group antigens is a single variation in position 226; Pro-226 corresponds to Rh3 and Ala-226 to Rh5. The
    molecular basis of the C=Rh2/c=Rh4 blood group antigens is a single variation in position 102; Ser-103
    corresponds to Rh2 and Pro-103 to Rh4


    Selected SNPs for RHCE (see all 1290)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs6093201,2,,4
    C,F,O,Hnon-pathogenic125717365(+) CAGAGC/GAGAGT 6 P A int1 mis1 ese323Minor allele frequency- G:0.17EA MN NS NA CSA WA EU 9386
    rs6767851,2,,4
    C,F,Auntested125735202(+) CCCAGA/GAGGGA 8 P S mis1 ese31Minor allele frequency- G:0.32MN 184
    rs10533441,2,,4
    Cuntested125735306(-) CTCAAA/GTTTCC 8 N S mis11Minor allele frequency- G:0.00NA 2
    rs1818604031,2,,4
    Cuntested125735331(+) GCCAAG/TGGCCG 8 I L mis10--------
    rs1997875631,2
    --25690905(+) AAACT-/TCGCGTA 4 -- int10--------
    rs2004955841,2
    --25692887(+) TTTTT-/CCTCTT 4 -- int10--------
    rs748076501,2
    C--25693132(-) AGCCCG/AAGGTG 4 -- int11Minor allele frequency- A:0.50NA 2
    rs2004469311,2
    C--25693203(+) GCAGGA/GCTGTT 4 -- int10--------
    rs1931557351,2
    C--25694127(+) AAAGAA/GGCCAG 4 -- int10--------
    rs1832547631,2
    --25694445(+) TGGGTA/GGCGGA 4 -- int10--------

    HapMap Linkage Disequilibrium report for RHCE (25688740 - 25756683 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for RHCE (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv7479CNV Insertion18451855
    nsv870522CNV Loss21882294
    nsv482037CNV Gain20164927
    nsv870470CNV Gain21882294
    nsv834480CNV Gain17160897
    nsv870477CNV Gain21882294
    esv996331CNV Gain20482838
    nsv871967CNV Gain21882294
    dgv200n71CNV Gain21882294
    esv28510CNV Gain+Loss19812545

    Human Gene Mutation Database (HGMD): RHCE
    Locus Specific Mutation Databases (LSDB): RHCE

    Blood Group Antigen Gene Mutation Database (BGMUT) blood group system
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RHCE
    DNA2.0 Custom Variant and Variant Library Synthesis for RHCE

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 111700   
    OMIM disorders: 111690  
    12 diseases for RHCE:    About MalaCards
    appendiceal neoplasm    rh-null disease, amorph type    anemia, hemolytic, rh-null, regulator type    rh deficiency syndrome
    rh isoimmunization    kernicterus    autoimmune hemolytic anemia    hiv/aids
    bullous pemphigoid    hemolytic anemia    liver cirrhosis    malaria

    4 diseases from the University of Copenhagen DISEASES database for RHCE:
    Rh isoimmunization     Anemia     Kernicterus     Autoimmune hemolytic anemia

    RHCE for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for RHCE gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hemolytic disease 84.3 11 7824249 (3), 7675408 (3), 15750007 (1)

    Genetic Association Database (GAD): RHCE
    Human Genome Epidemiology (HuGE) Navigator: RHCE (25 documents)

    Export disorders for RHCE 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)
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    PubMed articles for RHCE gene, integrated from 10 sources (see all 157):
    (articles sorted by number of sources associating them with RHCE)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular genetic basis of the human Rhesus blood group system. (PubMed id 8220426)1, 2, 3 Mouro I.... le van Kim C. (Nat. Genet. 1993)
    2. E variants found in Japanese and c antigenicity alteration without substitution in the second extracellular loop. (PubMed id 11724987)1, 2, 9 Kashiwase K.... Juji T. (Transfusion 2001)
    3. Organization of the gene (RHCE) encoding the human blood group RhCcEe antigens and characterization of the promoter region. (PubMed id 8188244)1, 2, 9 Cherif-Zahar B....Colin Y. (Genomics 1994)
    4. cDNA cloning of a 30 kDa erythrocyte membrane protein associated with Rh (Rhesus)-blood-group-antigen expression. (PubMed id 2123099)1, 2, 9 Avent N.D.... Anstee D.J. (Biochem. J. 1990)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. Distribution of the FYBES and RHCE*ce(733C&gt;G) alleles in an Argentinean population: implications for transfusion medicine. (PubMed id 18460195)1, 4 Cotorruelo C.M....Racca A.L. (BMC Med. Genet. 2008)
    7. [RHCE genotyping in Chinese Han from north and Li from south]. (PubMed id 17080665)1, 4 Sun Z.G....Huang H.W. (Fa Yi Xue Za Zhi 2006)
    8. Abnormal haemoglobin variants, ABO and Rh blood groups among student of African descent in Port Harcourt, Nigeria. (PubMed id 17140342)1, 4 Jeremiah Z.A. (Afr Health Sci 2006)
    9. ABO, Rh, MNS, Duffy, Kidd,Yt, Scianna, and Colton blood group systems in indigenous Chinese. (PubMed id 15783300)1, 4 Yan L....He J. (Immunohematology 2005)
    10. Effects of ABO/Rh blood groups, G-6-P-D enzyme activity and haemoglobin genotypes on malaria parasitaemia and parasite density. (PubMed id 17298125)1, 4 Nkuo-Akenji T.K....Akoachere J.F. (Afr J Health Sci 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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

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    Entrez Gene: 6006 HGNC: 10008 AceView: RHCE Ensembl:ENSG00000188672 euGenes: HUgn6006
    ECgene: RHCE H-InvDB: RHCE

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for RHCE 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/books/NBK1116/?term=RHCE[genesymbol]

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

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



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