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RHAG Rh associated glycoprotein [ Homo sapiens (human) ]

Gene ID: 6005, updated on 2-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
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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 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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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
not available
Rh-null, regulator type
MedGen: C1849387 OMIM: 268150 GeneReviews: Not available
not available

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

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