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

RHAG Gene

protein-coding   GIFtS: 64
GCID: GC06M049619

Rh-Associated Glycoprotein

(Previous name: Rhesus blood group-associated glycoprotein)
  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)
About This Section

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

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 stomatocytosis i, and anemia, hemolytic, rh-null, regulator type, and among its related super-pathways are Transmembrane transport of small molecules and Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes. GO annotations related to this gene include ammonia transmembrane transporter activity 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.2  NT_007592.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for RHAG

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RHAG_HUMAN, Q02094 (See protein sequence)
Recommended Name: Ammonium transporter Rh type A  
Size: 409 amino acids; 44198 Da
Subunit: Heterotetramer
Subcellular location: Membrane; Multi-pass membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q02094

  • RHAG Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RHAG Protein Expression
    REFSEQ proteins: NP_000315.2  
    ENSEMBL proteins: 
     ENSP00000360217   ENSP00000229810  
    Reactome Protein details: Q02094
    Human Recombinant Protein Products for RHAG: 
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    Novus Biologicals RHAG Protein
    Novus Biologicals RHAG Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RHAG 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS1417776
    GO:0016020membrane ----
    GO:0016021integral to membrane ----

    RHAG for ontologies           About GeneDecksing



    RHAG Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for RHAG 

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    Cloud-Clone Corp. CLIAs for RHAG


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


    RHAG 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008519ammonium transmembrane transporter activity IGI11062476
    GO:0030506ankyrin binding IPI12719424
    GO:0051739ammonia transmembrane transporter activity IDA19273840
         
    RHAG for ontologies           About GeneDecksing


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

    RHAG for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Rhagtm1Goo for RHAG

       inGenious Targeting Laboratory - Custom generated mouse model solutions for RHAG 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RHAG

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RHAG 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RHAG 

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    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for RHAG About                                                                                                See pathways by source

    SuperPathContained pathways About
    1SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport0.50
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    Transmembrane transport of small molecules0.50
    2O2/CO2 exchange in erythrocytes
    Uptake of Oxygen and Release of Carbon Dioxide by Erythrocytes1.00
    O2/CO2 exchange in erythrocytes1.00
    Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes1.00
    3Amine compound SLC transporters
    Amine compound SLC transporters0.63
    4Metabolism
    Metabolism0.40
    5Rhesus glycoproteins mediate ammonium transport.
    Rhesus glycoproteins mediate ammonium transport.

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    5/9        Reactome Pathways for RHAG (see all 9)
        Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes
    Metabolism
    Uptake of Oxygen and Release of Carbon Dioxide by Erythrocytes
    Amine compound SLC transporters
    Rhesus glycoproteins mediate ammonium transport.



    RHAG for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins 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): 5/7 biological process terms (GO ID links to tree view) (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--

    RHAG for ontologies           About GeneDecksing



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

    RHAG for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about RHAG

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    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 

    24/65 AceView cDNA sequences (see all 65):

    BU663338 BX427716 AF187847 BU664948 AI468430 CR592572 AU121299 AI174781 
    NM_000324 AF178841 CR621033 BX422221 X64594 BX093160 BG943052 AF031548 
    BU663327 BI768986 AA705075 BU664850 AA682807 BX431980 CF552722 BG527057 

    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

    RHAG expression in normal human tissues (normalized intensities)      RHAG embryonic expression: see
    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 
     5/10 selected tissues (see all 10) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 6 entries
             Fetal Liver CD36+ Cells   
             umbilical cord reticulocytes   
     
     Liver (Hepatobiliary System)    fully expand to see all 3 entries
             Mesothelial Cells Hepatic Mesenchyme
             Liver Lobule
             Fetal Liver CD36+ Cells   
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Bone Marrow
             bone marrow   
     
     Lower Urinary Tract (Urinary System)
             urinary bladder ; urothelial cells   
     
     Oral Cavity (Gastrointestinal Tract)
             oral mucosa ; squamous epithelial cells   

    See RHAG Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RHAG

    SOURCE GeneReport for Unigene cluster: Hs.120950

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

        SABiosciences Custom PCR Arrays for RHAG
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for RHAG gene from 7/15 species (see all 15)    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 80.11(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 72.24(n)
    68.38(a)
      395118  NM_204464.1  NP_989795.1 
    lizard
    (Anolis carolinensis)
    Reptilia RHAG6
    Uncharacterized protein
    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 66.83(n)
    65.85(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
    Protein RHR-11
    44(a)
    (best of 2)3
    53.06(n)1
    48.21(a)1
      V(5428029-5430058)3
    1789271  NM_072035.41  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)
    About This Section
    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
    RHCE    RhD    RhCE    RhDTI    RhIVb(J)

    RHAG for paralogs           About GeneDecksing



    (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) 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

    10/779 SNPs in RHAG are shown (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
    ----------
    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--------
    VAR_0158564
    Regulator type Rh-null hemolytic anemia (RHN)4--see VAR_0158562 G E mis40--------
    VAR_0069214
    Regulator type Rh-null hemolytic anemia (RHN)4--see VAR_0069212 S N mis40--------
    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
    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
    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section
    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

  • 10 diseases for RHAG:    About MalaCards
    stomatocytosis i    anemia, hemolytic, rh-null, regulator type    rh deficiency syndrome    null syndrome
    hereditary elliptocytosis    juvenile myoclonic epilepsy    hemolytic anemia    anemia
    migraine    squamous cell carcinoma

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

    RHAG for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for RHAG gene, integrated from 9 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. (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. (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. (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. (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. (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. (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. (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. (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. (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. (1998)

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

      Query String
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    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: 6005 HGNC: 10006 AceView: RHAG Ensembl:ENSG00000112077 euGenes: HUgn6005
    ECgene: RHAG H-InvDB: RHAG

    (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 RHAG Pharmacogenomics, SNPs, Pathways

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