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RHAG Gene

protein-coding   GIFtS: 65
GCID: GC06M049619

Rh-Associated Glycoprotein

(Previous name: Rhesus blood group-associated glycoprotein)
  See RHAG-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-Associated Glycoprotein1 2     RH22
Rhesus Blood Group-Associated Glycoprotein1 2 3     Rh502
Erythrocyte Membrane Glycoprotein Rh502 3     Rh50GP2
Erythrocyte Plasma Membrane 50 KDa Glycoprotein2 3     SLC42A12
Rh Family Type A Glycoprotein2 3     Ammonium Transporter Rh Type A2
Rh Type A Glycoprotein2 3     Rhesus Associated Polypeptide, 50-KD2
Rhesus Blood Group Family Type A Glycoprotein2 3     RH503
Rhesus Blood Group-Associated Ammonia Channel2 3     Rh50A3
RH50A2 5     CD241 Antigen3
CD2412     

External Ids:    HGNC: 100061   Entrez Gene: 60052   Ensembl: ENSG000001120777   OMIM: 1802975   UniProtKB: Q020943   

Export aliases for RHAG gene to outside databases

Previous GC identifers: GC06M049574 GC06M049680 GC06M049302


(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 RHAG Gene:
The protein encoded by this gene is erythrocyte-specific and is thought to be part of a membrane channel that
transports ammonium and carbon dioxide across the blood cell membrane. The encoded protein appears to interact
with Rh blood group antigens and Rh30 polypeptides. Defects in this gene are a cause of regulator type Rh-null
hemolytic anemia (RHN), or Rh-deficiency syndrome.(provided by RefSeq, Mar 2009)

GeneCards Summary for RHAG Gene:
RHAG (Rh-associated glycoprotein) is a protein-coding gene. Diseases associated with RHAG include anemia, hemolytic, rh-null, regulator type, and rh-mod syndrome. GO annotations related to this gene include and ankyrin binding. An important paralog of this gene is RHCE.

UniProtKB/Swiss-Prot: RHAG_HUMAN, Q02094
Function: Associated with rhesus blood group antigen expression. 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 RHAG 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 at NCBI GenBank:
NC_000006.11  NC_018917.2  NT_007592.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the RHAG gene promoter:
         AP-1   ATF-2   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   HNF-3beta   PPAR-gamma1   c-Jun   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRHAG promoter sequence
   Search Chromatin IP Primers for RHAG

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


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

Entrez Gene cytogenetic band: 6p12.3   Ensembl cytogenetic band:  6p12.3   HGNC cytogenetic band: 6p12.3

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

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M049619:  view genomic region     (about GC identifiers)

Start:
49,572,871 bp from pter      End:
49,604,587 bp from pter
Size:
31,717 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: RHAG_HUMAN, Q02094 (See protein sequence)
Recommended Name: Ammonium transporter Rh type A  
Size: 409 amino acids; 44198 Da
Subunit: Heterotetramer
Secondary accessions: B2R8T8 O43514 O43515 Q7L8L3 Q9H454
Alternative splicing: 2 isoforms:  Q02094-1   Q02094-2   

Explore the universe of human proteins at neXtProt for RHAG: NX_Q02094

Explore proteomics data for RHAG at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn37, Asn355
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_000315.2  
    ENSEMBL proteins: 
     ENSP00000360217   ENSP00000229810  
    Reactome Protein details: Q02094

    RHAG Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for RHAG

     
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    antibodies-online proteins for RHAG (2 products) 

     
    antibodies-online peptides for RHAG

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    antibodies-online antibodies for RHAG (3 products) 

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    antibodies-online kits for RHAG (21 products) 


    (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
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: RhAG
    SLC42 family of non-erythroid Rhesus glycoprotein ammonium transporters

    2 InterPro protein domains:
     IPR024041 NH4_transpt_AmtB-like_dom
     IPR002229 RhesusRHD

    Graphical View of Domain Structure for InterPro Entry Q02094

    ProtoNet protein and cluster: Q02094

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


    UniProtKB/Swiss-Prot: RHAG_HUMAN, Q02094
    Similarity: Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily


    Find genes that share domains with RHAG           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RHAG_HUMAN, Q02094
    Function: Associated with rhesus blood group antigen expression. 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 RHAG:
    glycoprotein RH50,component of the RH antigen multisubunit complex,required for transport and assembly of the Rh
    membrane complex to the red blood cell surface

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008519ammonium transmembrane transporter activity IGI11062476
    GO:0030506ankyrin binding IPI12719424
         
    Find genes that share ontologies with RHAG           About GenesLikeMe


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

    Find genes that share phenotypes with RHAG           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Rhagtm1Goo for RHAG

       genOway: Develop your customized and physiologically relevant rodent model for RHAG

    miRNA
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    miRTarBase miRNAs that target RHAG:
    hsa-mir-148b-3p (MIRT019341)

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    Search for qRT-PCR Assays for microRNAs that regulate RHAG
    SwitchGear 3'UTR luciferase reporter plasmidRHAG 3' UTR sequence
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    (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
    RHAG_HUMAN, Q02094: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytoskeleton1
    endoplasmic reticulum1
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS1417776
    GO:0016020membrane ----

    Find genes that share ontologies with RHAG           About GenesLikeMe


    (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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    SuperPaths for RHAG About    
    See pathways by source

    SuperPathContained pathways About
    1Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    Transmembrane transport of small molecules0.47
    Rhesus glycoproteins mediate ammonium transport.0.00
    2O2/CO2 exchange in erythrocytes
    O2/CO2 exchange in erythrocytes
    Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes0.00
    Uptake of Oxygen and Release of Carbon Dioxide by Erythrocytes0.00
    3Metabolism
    Metabolism0.38


    Find genes that share SuperPaths with RHAG           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3 Reactome Pathways for RHAG
        Rhesus glycoproteins mediate ammonium transport.
    Erythrocytes take up carbon dioxide and release oxygen
    Erythrocytes take up oxygen and release carbon dioxide


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RHAG
    Interactions:

        GeneGlobe Interaction Network for RHAG

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5 Interacting proteins for RHAG (Q020943 ENSP000003602174) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ANK1P161573, ENSP000002657094I2D: score=2 STRING: ENSP00000265709
    CD47Q087223, ENSP000003553614I2D: score=1 STRING: ENSP00000355361
    ICAM4Q147733, ENSP000003421144I2D: score=1 STRING: ENSP00000342114
    SLC4A1P027303, ENSP000002624184I2D: score=1 STRING: ENSP00000262418
    GYPAENSP000003540034STRING: ENSP00000354003
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006873cellular ion homeostasis IDA15856280
    GO:0015670carbon dioxide transport IDA16574458
    GO:0015696ammonium transport IGI11062476
    GO:0015701bicarbonate transport TAS--
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with RHAG           About GenesLikeMe



    (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 RHAG

    1 HMDB Compound for RHAG    About this table
    CompoundSynonyms CAS #PubMed Ids
    AmmoniaNH3 (see all 31)7664-41-7--

    1 IUPHAR Ligand for RHAG (RhAG)    About this table
    LigandTypeActionAffinityPubmed IDs
    [14C]methylamine
    NoneNone--

    8 Novoseek inferred chemical compound relationships for RHAG gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    methylammonium 88.4 4 15856280 (1), 11062476 (1), 16574458 (1)
    amtb 73.3 2 16281947 (2)
    ammonium 70.5 25 15856280 (4), 11062476 (4), 14966114 (3), 16574458 (1) (see all 10)
    nh4cl 46.3 1 15856280 (1)
    methylamine 45.3 3 14966114 (1)
    bicarbonate 8.68 1 15946885 (1)
    lipid 0 2 10495887 (1), 15946885 (1)
    hydrogen 0 1 15856280 (1)



    Find genes that share compounds with RHAG           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RHAG gene: 
    NM_000324.2  

    Unigene Cluster for RHAG:

    Rh-associated glycoprotein
    Hs.120950  [show with all ESTs]
    Unigene Representative Sequence: NM_000324
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371175(uc003ozk.4 uc010jzl.3 uc010jzm.3) ENST00000229810

    miRNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat RHAG
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    Additional mRNA sequence: 

    AF031548.1 AF031549.1 AF178841.1 AF179682.1 AF179684.1 AF179685.1 AF187847.1 AK313505.1 
    BC012605.1 X64594.1 

    5 DOTS entries:

    DT.443867  DT.95265271  DT.115071  DT.443866  DT.100023144 

    Selected AceView cDNA sequences (see all 65):

    CR592572 AF187847 AF178841 BX093160 AI468430 AU121299 BU664948 AI174781 
    BG943052 CR621033 BX427716 NM_000324 AF031548 BU663338 X64594 BX422221 
    R06740 AA705075 AL564572 BX431980 BU664154 CF552722 BU663327 BU664850 

    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™, 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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    RHAG expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGACTATTT
    RHAG Expression
    About this image


    RHAG expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Mesothelial Cells Hepatic Mesenchyme
             Liver Lobule
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Blood (Hematopoietic System)
             Erythroblasts Hematopoietic Bone Marrow
    RHAG Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RHAG Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.120950

    UniProtKB/Swiss-Prot: RHAG_HUMAN, Q02094
    Tissue specificity: Erythrocytes

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHAG

    (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 RHAG gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rhag1 , 5 Rhesus blood group-associated A glycoprotein1, 5 80.28(n)1
    77.26(a)1
      17 (19.54 cM)5
    197431  NM_011269.21  NP_035399.11 
     408111265 
    chicken
    (Gallus gallus)
    Aves RHAG1 Rh-associated glycoprotein 72.12(n)
    68.03(a)
      395118  NM_204464.1  NP_989795.1 
    lizard
    (Anolis carolinensis)
    Reptilia RHAG6
    Rh-associated glycoprotein
    58(a)
    1 ↔ 1
    1(139632316-139658457)
    African clawed frog
    (Xenopus laevis)
    Amphibia Rh502 50 kD glycoprotein 76.37(n)    AB036510.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rhag1 Rhesus blood group-associated glycoprotein 66.67(n)
    65.53(a)
      405771  NM_212845.1  NP_998010.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rh503   -- 50(a)   64C4   --
    worm
    (Caenorhabditis elegans)
    Secernentea rhr-11 , 3 blood group RH(D) polypeptide3
    rhr-11
    44(a)
    (best of 2)3
    53.06(n)1
    48.21(a)1
      V(5428029-5430058)3
    1789271  NM_072035.51  NP_504436.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RHAG gene
    RHCE2  RHBG2  RHD2  RHCG2  
    11 SIMAP similar genes for RHAG using alignment to 7 protein entries:     RHAG_HUMAN (see all proteins):
    RH50    RHCG    RHBG    RhDCw    RHD/RHCE    RHD
    RhD    RHCE    RhCE    RhDTI    RhIVb(J)

    Find genes that share paralogs with RHAG           About GenesLikeMe



    (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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    Selected SNPs for RHAG (see all 779)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs168794981,2,,4
    C,F,HRegulator type Rh-null hemolytic anemia (RHN)4 pathogenic149494302(+) GTGAAC/TCTGTG 2 I V mis115Minor allele frequency- T:0.04NA NS EA CSA WA EU 6869
    VAR_0158574
    Regulator type Rh-null hemolytic anemia (RHN)4--see VAR_0158572 G R mis40--------
    VAR_0158584
    Regulator type Rh-null hemolytic anemia (RHN)4--see VAR_0158582 G V mis40--------
    rs289339911,2,4
    Regulator type Rh-null hemolytic anemia (RHN)4--see VAR_0158562 mis40--------
    VAR_0069214
    Regulator type Rh-null hemolytic anemia (RHN)4--see VAR_0069212 S N mis40--------
    rs1219185881,2
    Cpathogenic149518580(-) AACATG/TAGGTT 2 M I mis10--------
    rs19852231,2
    F,H--49305881(+) ccagcG/Attcaa 1 -- int15Minor allele frequency- A:0.00NS EA NA 418
    rs342008111,2
    C--49314895(+) TGAGT-/CCCCAA 1 -- int11Minor allele frequency- C:0.00NA 2
    rs624124381,2
    --49332536(+) TGTGTG/TTGTGT 1 -- int11Minor allele frequency- T:0.00NA 2
    rs113234431,2
    C--49334983(+) CAGAT-/AAGAGG 1 -- us2k1 tfbs31Minor allele frequency- A:0.00CSA 2

    HapMap Linkage Disequilibrium report for RHAG (49572871 - 49604587 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for RHAG:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv885881CNV Loss21882294

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

    Blood Group Antigen Gene Mutation Database (BGMUT) blood group system
    Site Specific Mutation Identification with PCR Assays
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    (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.)
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    OMIM gene information: 180297   
    OMIM disorders: 268150  
    UniProtKB/Swiss-Prot: RHAG_HUMAN, Q02094
  • Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150]: Form of chronic hemolytic anemia in which the
    red blood cells have a stomatocytosis and spherocytosis morphology, an increased osmotic fragility, an altered
    ion transport system, and abnormal membrane phospholipid organization. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 5 diseases for RHAG:    
    About MalaCards
    anemia, hemolytic, rh-null, regulator type    rh-mod syndrome    stomatocytosis i    hemolytic anemia
    juvenile myoclonic epilepsy

    1 disease from the University of Copenhagen DISEASES database for RHAG:
    Anemia

    Find genes that share disorders with RHAG           About GenesLikeMe

    1 Novoseek inferred disease relationship for RHAG gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    anemia hemolytic 68.7 2 19807729 (1), 9442063 (1)

    Genetic Association Database (GAD): RHAG
    Human Genome Epidemiology (HuGE) Navigator: RHAG (1 document)

    Export disorders for RHAG 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 RHAG gene, integrated from 10 sources (see all 79):
    (articles sorted by number of sources associating them with RHAG)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel single missense mutation identified along the RH50 gene in a composite heterozygous Rhnull blood donor of the regulator type. (PubMed id 9454778)1, 2, 9 Hyland C.A.... Cartron J.-P. (Blood 1998)
    2. The human Rh50 glycoprotein gene. Structural organization and associated splicing defect resulting in Rh(null) disease. (PubMed id 9442063)1, 2, 9 Huang C.-H. (J. Biol. Chem. 1998)
    3. Isolation of cDNA clones for a 50 kDa glycoprotein of the human erythrocyte membrane associated with Rh (rhesus) blood-group antigen expression. (PubMed id 1417776)1, 2, 9 Ridgwell K....Tanner M.J.A. (Biochem. J. 1992)
    4. Mechanism of genetic complementation of ammonium transport in yeast by human erythrocyte Rh-associated glycoprotein. (PubMed id 14966114)1, 2, 9 Westhoff C.M.... Foskett J.K. (J. Biol. Chem. 2004)
    5. Identification of 5' flanking sequence of RH50 gene and the core region for erythroid-specific expression. (PubMed id 9473510)1, 2, 9 Iwamoto S.... Kajii E. (Biochem. Biophys. Res. Commun. 1998)
    6. Organization of the human RH50A gene (RHAG) and evolution of base composition of the RH gene family. (PubMed id 9479501)1, 3, 9 Matassi G....Cartron J.P. (Genomics 1998)
    7. The human Rhesus-associated RhAG protein and a kidney homologue promote ammonium transport in yeast. (PubMed id 11062476)1, 2, 9 Marini A.-M....Cherif-Zahar B. (Nat. Genet. 2000)
    8. Molecular basis for Rh(null) syndrome: identification of three new missense mutations in the Rh50 glycoprotein gene. (PubMed id 10467273)1, 2, 9 Huang C.-H....Okubo Y. (Am. J. Hematol. 1999)
    9. Exclusion of the juvenile myoclonic epilepsy gene EFHC1 as the cause of migraine on chromosome 6, but association to two rare polymorphisms in MEP1A and RHAG. (PubMed id 16378686)1, 4, 9 Norberg A....Holmberg M. (Neurosci. Lett. 2006)
    10. Rh50 glycoprotein gene and rhnull disease: a silent splice donor is trans to a Gly279-->Glu missense mutation in the conserved transmembrane segment. (PubMed id 9716608)1, 2, 9 Huang C.-H.... Chen Y. (Blood 1998)

    (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)
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    Entrez Gene: 6005 HGNC: 10006 AceView: RHAG Ensembl:ENSG00000112077 euGenes: HUgn6005
    ECgene: RHAG H-InvDB: RHAG

    (According to HUGE)
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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 RHAG Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for RHAG gene:
    Search GeneIP for patents involving RHAG

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



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