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

RHAG Gene

protein-coding   GIFtS: 62
GCID: GC06M049619

Rh-associated glycoprotein

(Previous name: Rhesus blood group-associated glycoprotein )
 Explore 13 diseases affiliated with
RHAG via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for RHAG    

Aliases
for RHAG gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Rh-Associated Glycoprotein1 2     Rhesus Blood Group-Associated Ammonia Channel2 3
Rhesus Blood Group-Associated Glycoprotein1 2 3     RH22
RH50A1 2 5     Rh502
CD2411 2     Rh50GP2
SLC42A11 2     Ammonium Transporter Rh Type A2
Erythrocyte Membrane Glycoprotein Rh502 3     Rhesus Associated Polypeptide, 50-KD2
Erythrocyte Plasma Membrane 50 KDa Glycoprotein2 3     RH503
Rh Family Type A Glycoprotein2 3     Rh50A3
Rh Type A Glycoprotein2 3     CD241 Antigen3
Rhesus Blood Group Family Type A Glycoprotein2 3     

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


Summaries
for RHAG gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  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 plasmid: RHAG 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

Proteins
for RHAG gene

(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: 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 Q7L8L3 Q9H454

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q02094

    • RHAG Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000315.2  
    ENSEMBL proteins: 
     ENSP00000360217   ENSP00000229810  
    Reactome Protein details: Q02094
    Human Recombinant Protein Products: 
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    Novus Biologicals RHAG Protein
    Novus Biologicals RHAG Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for RHAG

    Gene Ontology (GO): 3 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:0016021integral to membrane ----


    RHAG for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for RHAG

    Protein Domains /
    Families
    for RHAG gene

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

    2 InterPro domains/families:
     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 families:
    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


    Function
    for RHAG gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RHAG
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate RHAG
    SwitchGear 3'UTR luciferase reporter plasmid: RHAG 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 RHAG (see all 7)
    OriGene shRNA RFP: RHAG
    OriGene siRNA: RHAG
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RHAG

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for RHAG

    Clone
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    GenScript: all cDNA clones in your preferred vector: RHAG (NM_000324)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RHAG 

    Cell Line
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    Search LifeMap BioReagents cell lines for RHAG

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHAG

    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


    Animal Models:
         Mouse knock-out Rhagtm1Goo for RHAG
         2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Rhag):
     hematopoietic system  homeostasis/metabolism 

    RHAG for phenotypes           About GeneDecksing


    Pathways & Interactions
    for RHAG gene

    (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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1SLC-mediated transmembrane transport
    		SLC-mediated transmembrane transport1.00
    		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
    		O2/CO2 exchange in erythrocytes1.00
    		Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes1.00
    		Uptake of Oxygen and Release of Carbon Dioxide by Erythrocytes1.00
    3Rhesus glycoproteins mediate ammonium transport.
    		Rhesus glycoproteins mediate ammonium transport.1.00
    4Metabolism
    		Metabolism1.00
    5Amine compound SLC transporters
    		Amine compound SLC transporters1.00

    Pathway sources
    See GeneCards unified pathways
    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 IDA19273840
    GO:0015696ammonium transport IGI11062476
    GO:0015701bicarbonate transport TAS--
    GO:0044281small molecule metabolic process TAS--


    RHAG for ontologies           About GeneDecksing



    Drugs & Compounds
    for RHAG gene

    (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

    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--
    8 Novoseek 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 

    Transcripts
    for RHAG gene

    (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, 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 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


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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RHAG
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    SwitchGear 3'UTR luciferase reporter plasmid: RHAG 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 RHAG (see all 7)
    OriGene shRNA RFP: RHAG
    OriGene siRNA: RHAG
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RHAG
    Clone
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    GenScript: all cDNA clones in your preferred vector: RHAG (NM_000324)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RHAG 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RHAG
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RHAG

    Additional cDNA 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):

    NM_000324 BX422221 AU121299 AF178841 AF187847 BX427716 AI468430 BU664948 
    CR592572 BU663338 BG943052 X64594 CR621033 AF031548 AI174781 BX093160 
    R06740 BU663327 BC012605 BX494891 BU664154 BU664850 BG527057 AL564572 

    GeneLoc Exon Structure


    Expression
    for RHAG gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTGACTATTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    RHAG expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LiverLiver LobuleLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
    for RHAG gene

    (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 6/23 species (see all 23)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 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
    for RHAG gene

    (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  
    10 SIMAP similar genes for RHAG using alignment to 5 protein entries:     RHAG_HUMAN (see all proteins):
    RH50    Rh50    RHCG    RHBG    RHD/RHCE    RHD
    RhD    RHCE    RhDTI    RhIVb(J)

    RHAG for paralogs           About GeneDecksing



    Genomic Variants
    for RHAG gene

    (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

    10/650 NCBI SNPs in RHAG are shown (see all 650)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs168794981,2
    		C,F,H,pathogenic65225853(+) GTGAAC/TCTGTG 2 I V mis115Minor allele frequency- T:0.04NA NS EA CSA WA EU 6869
    rs624123921,2
    		--49302107(+) TAAAAG/TAAAAG 1 -- int12Minor allele frequency- T:0.04NA 122
    rs69060011,2
    		C,F,H,--49302785(+) ACACAT/CGCATT 1 -- ut31 ese33Minor allele frequency- C:0.01NS NA 326
    rs767791581,2
    		C,F,--49303015(+) AGAGAC/TAGCAT 1 -- ut311Minor allele frequency- T:0.03WA 118
    rs1132850811,2
    		--49303497(+) CTTTGC/TGGGAA 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs8998921,2
    		H,--49303603(-) AGAATT/ATGAGT 1 -- int17Minor allele frequency- A:0.00NA NS EA 498
    rs794963861,2
    		--49304431(+) TAAATG/TACATA 1 -- int11Minor allele frequency- T:0.01WA 118
    rs597350111,2
    		C,--49304880(+) TAAGAT/CTTTCC 1 -- int11Minor allele frequency- C:0.00WA 2
    rs760036181,2
    		F,--49305151(+) TGAAAG/TAATGT 1 -- int11Minor allele frequency- T:0.03NA 120
    rs799599711,2
    		F,--49305321(+) GAGTTT/GTTTTG 1 -- int11Minor allele frequency- G:0.03WA 118

    HapMap Linkage Disequilibrium report for RHAG (49572871 - 49604587 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for RHAG: --
    Human Gene Mutation Database (HGMD): RHAG

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

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    Disorders / Diseases
    for RHAG gene

    (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
    RHAG for disorders           About GeneDecksing

    OMIM gene information: 180297   
    OMIM disorders: 268150  
    UniProtKB/Swiss-Prot: RHAG_HUMAN, Q02094
  • Defects in RHAG are the cause of regulator type Rh-null hemolytic anemia (RHN) [MIM:268150]; also known as
    • Rh-deficiency syndrome. RHN is a 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

    13 diseases for RHAG:    About MalaCards
    anemia, hemolytic, rh-null, regulator type    rh deficiency syndrome    hemolytic anemia    rh-mod syndrome
    rh-null disease    anemia    juvenile myoclonic epilepsy    hereditary elliptocytosis
    elliptocytosis    spherocytosis    squamous cell carcinoma    migraine
    carcinoma

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

    1 Novoseek 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

    Publications
    for RHAG gene

    (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 77):
    (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)

    External Searches for RHAG gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing RHAG gene

    (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

    Other Databases showing RHAG gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing RHAG gene

    (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

    Intellectual Property
    for RHAG gene

    (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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