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    RHAG Rh associated glycoprotein [ Homo sapiens (human) ]

    Gene ID: 6005, updated on 27-Nov-2024

    Summary

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    Official Symbol
    RHAGprovided by HGNC
    Official Full Name
    Rh associated glycoproteinprovided by HGNC
    Primary source
    HGNC:HGNC:10006
    See related
    Ensembl:ENSG00000112077 MIM:180297; AllianceGenome:HGNC:10006
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OHS; RH2; OHST; RHNR; Rh50; CD241; RH50A; Rh50GP; SLC42A1
    Summary
    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]
    Expression
    Restricted expression toward bone marrow (RPKM 40.5) See more
    Orthologs
    mouse all
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    Genomic context

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    See RHAG in Genome Data Viewer
    Location:
    6p12.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (49605175..49636839, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (49447195..49478851, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (49572888..49604552, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24664 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:49519182-49519701 Neighboring gene chromosome 6 open reading frame 141 Neighboring gene Sharpr-MPRA regulatory region 6456 Neighboring gene cytochrome P450 family 2 subfamily AC member 1, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr6:49553494-49553995 Neighboring gene MPRA-validated peak5837 silencer Neighboring gene GATA motif-containing MPRA enhancer 217 Neighboring gene Sharpr-MPRA regulatory region 4614 Neighboring gene cysteine rich secretory protein 2 Neighboring gene MPRA-validated peak5838 silencer Neighboring gene MPRA-validated peak5839 silencer Neighboring gene cysteine rich secretory protein 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Cloning and characterization of erythroid-specific DNase I-hypersensitive site in human rhesus-associated glycoprotein gene. Iwamoto S, et al. J Biol Chem, 2000 Sep 1. PMID 10862620
    2. Rh(null) phenotype in an Indian patient due to a novel c.1138 + 2 t > a mutation in the RHAG gene. Banerjee S, et al. Transfus Med, 2024 Jun. PMID 38711255
    3. Organization of the human RH50A gene (RHAG) and evolution of base composition of the RH gene family. Matassi G, et al. Genomics, 1998 Jan 15. PMID 9479501
    4. Rh50 glycoprotein gene and rhnull disease: a silent splice donor is trans to a Gly279-->Glu missense mutation in the conserved transmembrane segment. Huang CH, et al. Blood, 1998 Sep 1. PMID 9716608
    5. Human Rhesus-associated glycoprotein mediates facilitated transport of NH(3) into red blood cells. Ripoche P, et al. Proc Natl Acad Sci U S A, 2004 Dec 7. PMID 15572441, Free PMC Article

    See all (59) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Rhnull phenotype in an Indian patient due to a novel c.1138 + 2 t > a mutation in the RHAG gene.
      Title: Rh(null) phenotype in an Indian patient due to a novel c.1138 + 2 t > a mutation in the RHAG gene.
    2. Extensive clinical, serologic and molecular studies lead to the first reported Rhmod phenotype in Argentina.
      Title: Extensive clinical, serologic and molecular studies lead to the first reported Rh(mod) phenotype in Argentina.
    3. The Kg-antigen, RhAG with a Lys164Gln mutation, gives rise to haemolytic disease of the newborn.
      Title: The Kg-antigen, RhAG with a Lys164Gln mutation, gives rise to haemolytic disease of the newborn.
    4. Rhnull phenotype caused by a novel RHAG mutation, c.945+1G>A, in the Japanese population.
      Title: Rh(null) phenotype caused by a novel RHAG mutation, c.945+1G>A, in the Japanese population.
    5. identified the second double-variant RHAG allele and the first one related to Rhmod phenotype. The novel allele was also confirmed to be heritable by family analyses.
      Title: A novel double-variant RHAG allele leads to Rh(mod) phenotype.
    6. A novel RHAG mutation significantly lowers RhAG antigen expression and antigen-mediated agglutination intensity.
      Title: A RHAG point mutation selectively disrupts Rh antigen expression.
    7. A novel nucleotide deletion in RHAG allele identified in a Chinese Rhnull individual.
      Title: A novel nucleotide deletion in RHAG allele identified in a Chinese Rh(null) individual.
    8. Case Report: complex RHAG genotype including a novel de novo mutation associated with overhydrated stomatocytosis.
      Title: Overhydrated stomatocytosis associated with a complex RHAG genotype including a novel de novo mutation.
    9. These results indicated that the 540C>A nonsense mutation in RHAG gene caused the regulator type of Rhnull phenotype in a Chinese individual.
      Title: A novel nonsense mutation in RHAG gene responsible for Rh(null) phenotype in a Chinese individual.
    10. novel allele in a Brazilian pregnant woman encoding the Rhnull phenotype due to a change in RHAG exon2 c.310C>T, which leads to a premature stop codon (Gln104Stop).
      Title: Novel RHAG allele encoding the Rh(null) phenotype in Brazil.
    Submit: New GeneRIF Correction See all GeneRIFs (31)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Overhydrated hereditary stomatocytosis
    MedGen: C1861455 OMIM: 185000 GeneReviews: Not available
    		Compare labs
    Rh-null, regulator type
    MedGen: C1849387 OMIM: 268150 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ammonium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ammonium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ammonium channel activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    enables ammonium channel activity TAS
    Traceable Author Statement
    more info
    		  
    enables ankyrin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables carbon dioxide transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables carbon dioxide transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		  
    enables leak channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables methylammonium transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in ammonium homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ammonium transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ammonium transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ammonium transmembrane transport IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in ammonium transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in bicarbonate transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in carbon dioxide transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in carbon dioxide transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in erythrocyte development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in inorganic cation transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in intracellular monoatomic ion homeostasis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in methylammonium transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in multicellular organismal-level iron ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of ankyrin-1 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    ammonium transporter Rh type A
    Names
    Rh 50 glycoprotein
    Rhesus associated polypeptide, 50-KD
    Rhesus blood group-associated glycoprotein
    erythrocyte membrane glycoprotein Rh50
    erythrocyte plasma membrane 50 kDa glycoprotein
    mutant Rh associated glycoprotein
    rh family type A glycoprotein
    rh type A glycoprotein
    rhesus blood group family type A glycoprotein
    rhesus blood group-associated ammonia channel

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011704.1 RefSeqGene

      Range
      5001..36700
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_822

    mRNA and Protein(s)

    1. NM_000324.3 → NP_000315.2  ammonium transporter Rh type A

      See identical proteins and their annotated locations for NP_000315.2

      Status: REVIEWED

      Source sequence(s)
      BC012605, X64594
      Consensus CDS
      CCDS4927.1
      UniProtKB/Swiss-Prot
      B2R8T8, O43514, O43515, Q02094, Q7L8L3, Q9H454
      UniProtKB/TrEMBL
      A0A1Q1NHH4, A0A6S6PEI8, A0A7S8RFX7, A0A7S8RGC4, M5FJR4, Q9UK70
      Related
      ENSP00000360217.4, ENST00000371175.10
      Conserved Domains (1) summary
      pfam00909
      Location:15 → 402
      Ammonium_transp; Ammonium Transporter Family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      49605175..49636839 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514788.2 → XP_011513090.1  ammonium transporter Rh type A isoform X1

      UniProtKB/TrEMBL
      A0A0A1TSG9
      Conserved Domains (1) summary
      cl03012
      Location:15 → 213
      Ammonium_transp; Ammonium Transporter Family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      49447195..49478851 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356161.1 → XP_054212136.1  ammonium transporter Rh type A isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q02094.2 GenPept UniProtKB/Swiss-Prot:Q02094

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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