RHAG Rh associated glycoprotein [Homo sapiens (human)] - Gene

Summary

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

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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
A novel RHAG mutation significantly lowers RhAG antigen expression and antigen-mediated agglutination intensity.
Title: A RHAG point mutation selectively disrupts Rh antigen expression.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-R96373 (e-PCR)
- UniSTS:50827

STS-X64594 (e-PCR)
- UniSTS:6312

SGC35426 (e-PCR)
- UniSTS:69864

RH46855 (e-PCR)
- UniSTS:35325

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

NG_011704.1 RefSeqGene

Range

5001..36700

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_822

mRNA and Protein(s)

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

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

49605175..49636839 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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