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RHAG Gene(Protein Coding)

Rh Associated Glycoprotein

GCID:
GC06M049680
GIFtS:
54
Genes Participants
UDN Logo

Aliases for RHAG Gene

Aliases for RHAG Gene

  • Rh Associated Glycoprotein 2 3 5
  • Rhesus Blood Group-Associated Glycoprotein 2 3 4
  • Erythrocyte Plasma Membrane 50 KDa Glycoprotein 3 4
  • Rhesus Blood Group Family Type A Glycoprotein 3 4
  • Rhesus Blood Group-Associated Ammonia Channel 3 4
  • Erythrocyte Membrane Glycoprotein Rh50 3 4
  • Rh Family Type A Glycoprotein 3 4
  • Rh Type A Glycoprotein 3 4
  • RH50A 3 4
  • Rh50 3 4
  • Rhesus Associated Polypeptide, 50-KD 3
  • Truncated Rh-Associated Glycoprotein 3
  • Ammonium Transporter Rh Type A 3
  • Truncated RhAG Glycoprotein 3
  • Rh 50 Glycoprotein 3
  • CD241 Antigen 4
  • SLC42A1 3
  • Rh50GP 3
  • CD241 3
  • OHST 3
  • OHS 3
  • RH2 3

External Ids for RHAG Gene

Previous GeneCards Identifiers for RHAG Gene

  • GC06M049574
  • GC06M049619
  • GC06M049302

Summaries for RHAG Gene

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 Rh-Null, Regulator Type and Overhydrated Hereditary Stomatocytosis. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Metabolism. Gene Ontology (GO) annotations related to this gene include ankyrin binding and ammonium transmembrane transporter activity. An important paralog of this gene is RHCG.

UniProtKB/Swiss-Prot for RHAG Gene

  • Associated with rhesus blood group antigen expression (PubMed:19744193). May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane (PubMed:11062476, PubMed:11861637). Involved in ammonia transport across the erythrocyte membrane (PubMed:21849667, PubMed:22012326). Seems to act in monovalent cation transport (PubMed:18931342, PubMed:21849667).

Gene Wiki entry for RHAG Gene

Additional gene information for RHAG Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RHAG Gene

Genomics for RHAG Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for RHAG Gene

Promoters and enhancers for RHAG Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH06I049636 Promoter 1.2 EPDnew 550.8 +0.0 15 0.1 SMAD1 ATF1 ARNT TCF12 POLR2B ZNF766 CBX5 GATA2 ATF7 NCOA1 RHAG GC06P049628
GH06I049645 Enhancer 1.2 FANTOM5 ENCODE 20.4 -10.1 -10079 3.4 PKNOX1 SMAD1 ATF1 ARNT NCOA2 TCF12 ZNF766 GATA2 ATF7 CAVIN1 RHAG LOC101927020 LOC101927048 CRISP3 C6orf141 CENPQ CRISP2
GH06I049606 Enhancer 0.9 ENCODE 0.3 +29.9 29852 0.6 HDGF HDAC1 ELF3 SMAD1 NFIB ARNT INSM2 ARID4B KLF17 RAD21 LOC101927020 LOC101927048 GC06P049628 GC06P049582 RHAG
GH06I049666 Enhancer 0.9 ENCODE 0.3 -30.5 -30483 0.9 HDGF HDAC1 PKNOX1 ATF1 ARNT NFRKB TCF12 ATF7 CREM KDM4B CRISP3 PGK2 C6orf141 RHAG CRISP2
GH06I049676 Enhancer 0.7 ENCODE 0.3 -40.0 -39989 0.2 SMARCE1 JUN CEBPB DPF2 EP300 ZNF217 CTBP1 JUND GATA3 CREB1 LOC101927020 CRISP3 LOC101927048 PGK2 RHAG CRISP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RHAG on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RHAG gene promoter:

Genomic Locations for RHAG Gene

Genomic Locations for RHAG Gene
chr6:49,605,158-49,636,874
(GRCh38/hg38)
Size:
31,717 bases
Orientation:
Minus strand
chr6:49,572,871-49,604,587
(GRCh37/hg19)

Genomic View for RHAG Gene

Genes around RHAG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RHAG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RHAG Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for RHAG Gene

Proteins for RHAG Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for RHAG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02094-RHAG_HUMAN
    Recommended name:
    Ammonium transporter Rh type A
    Protein Accession:
    Q02094
    Secondary Accessions:
    • B2R8T8
    • O43514
    • O43515
    • Q7L8L3
    • Q9H454

    Protein attributes for RHAG Gene

    Size:
    409 amino acids
    Molecular mass:
    44198 Da
    Quaternary structure:
    • Heterotetramer.

    Alternative splice isoforms for RHAG Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RHAG Gene

Protein Expression for RHAG Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for RHAG Gene

Other Protein References for RHAG Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RHAG Gene

Domains & Families for RHAG Gene

Gene Families for RHAG Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • CD markers
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for RHAG Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for RHAG Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q02094

UniProtKB/Swiss-Prot:

RHAG_HUMAN :
  • Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily.
Family:
  • Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily.
genes like me logo Genes that share domains with RHAG: view

Function for RHAG Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for RHAG Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot Function:
Associated with rhesus blood group antigen expression (PubMed:19744193). May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane (PubMed:11062476, PubMed:11861637). Involved in ammonia transport across the erythrocyte membrane (PubMed:21849667, PubMed:22012326). Seems to act in monovalent cation transport (PubMed:18931342, PubMed:21849667).

Phenotypes From GWAS Catalog for RHAG Gene

Gene Ontology (GO) - Molecular Function for RHAG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008519 ammonium transmembrane transporter activity IEA,TAS --
GO:0022840 leak channel activity IDA 18931342
GO:0030506 ankyrin binding IPI 12719424
GO:0035379 carbon dioxide transmembrane transporter activity TAS --
genes like me logo Genes that share ontologies with RHAG: view
genes like me logo Genes that share phenotypes with RHAG: view

Human Phenotype Ontology for RHAG Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RHAG Gene

MGI Knock Outs for RHAG:

Animal Model Products

miRNA for RHAG Gene

miRTarBase miRNAs that target RHAG

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RHAG Gene

Localization for RHAG Gene

Subcellular locations from UniProtKB/Swiss-Prot for RHAG Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RHAG gene
Compartment Confidence
plasma membrane 5
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RHAG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 1417776
GO:0016020 membrane IEA,IDA 22012326
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RHAG: view

Pathways & Interactions for RHAG Gene

genes like me logo Genes that share pathways with RHAG: view

Gene Ontology (GO) - Biological Process for RHAG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006873 cellular ion homeostasis IDA 15856280
GO:0015670 carbon dioxide transport IDA 16574458
GO:0015672 monovalent inorganic cation transport IDA 18931342
GO:0015695 organic cation transport IBA --
genes like me logo Genes that share ontologies with RHAG: view

No data available for SIGNOR curated interactions for RHAG Gene

Drugs & Compounds for RHAG Gene

Products:

  1. Drug

(4) Drugs for RHAG Gene - From: DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ammonia Approved Pharma 0
[<sup>14</sup>C]methylamine Pharma 0

(6) Additional Compounds for RHAG Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RHAG: view

Transcripts for RHAG Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for RHAG Gene

(2) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(65) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RHAG Gene

Rh-associated glycoprotein:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RHAG Gene

No ASD Table

Relevant External Links for RHAG Gene

GeneLoc Exon Structure for
RHAG
ECgene alternative splicing isoforms for
RHAG

Expression for RHAG Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RHAG Gene

mRNA expression in normal human tissues for RHAG Gene
mRNA expression by BioGPS for RHAG GenemRNA expression by GTEx for RHAG Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RHAG Gene

This gene is overexpressed in Whole Blood (x22.0) and Heart - Atrial Appendage (x4.6).

Protein differential expression in normal tissues from HIPED for RHAG Gene

This gene is overexpressed in Ovary (11.4), Placenta (10.0), Skin (9.5), and Platelet (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RHAG Gene



NURSA nuclear receptor signaling pathways regulating expression of RHAG Gene:

RHAG

SOURCE GeneReport for Unigene cluster for RHAG Gene:

Hs.120950

mRNA Expression by UniProt/SwissProt for RHAG Gene:

Q02094-RHAG_HUMAN
Tissue specificity: Erythrocytes.

Evidence on tissue expression from TISSUES for RHAG Gene

  • Bone marrow(4.4)
  • Liver(4.4)
  • Heart(4.3)
  • Blood(3.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RHAG Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • ear
  • eye
  • head
  • mouth
Abdomen:
  • liver
General:
  • blood
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with RHAG: view

No data available for Protein tissue co-expression partners for RHAG Gene

Orthologs for RHAG Gene

This gene was present in the common ancestor of animals.

Orthologs for RHAG Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia RHAG 33 34
  • 99.27 (n)
dog
(Canis familiaris)
 Mammalia RHAG 33 34
  • 82.23 (n)
cow
(Bos Taurus)
 Mammalia RHAG 33 34
  • 80.28 (n)
mouse
(Mus musculus)
 Mammalia Rhag 33 16 34
  • 80.28 (n)
rat
(Rattus norvegicus)
 Mammalia Rhag 33
  • 79.63 (n)
oppossum
(Monodelphis domestica)
 Mammalia RHAG 34
  • 72 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia RHAG 34
  • 62 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves RHAG 33 34
  • 72.12 (n)
lizard
(Anolis carolinensis)
 Reptilia RHAG 34
  • 58 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100495681 33
  • 67.99 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Rh50 33
zebrafish
(Danio rerio)
 Actinopterygii rhag 33 34
  • 66.67 (n)
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.3979 33
fruit fly
(Drosophila melanogaster)
 Insecta Rh50 35 34
  • 50 (a)
worm
(Caenorhabditis elegans)
 Secernentea rhr-1 35 33 34
  • 53.06 (n)
rhr-2 35 34
  • 40 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.7848 34
  • 45 (a)
 ManyToMany
CSA.7075 34
  • 44 (a)
 ManyToMany
-- 34
  • 43 (a)
 ManyToMany
Species where no ortholog for RHAG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RHAG Gene

ENSEMBL:
Gene Tree for RHAG (if available)
TreeFam:
Gene Tree for RHAG (if available)

Paralogs for RHAG Gene

Paralogs for RHAG Gene

(11) SIMAP similar genes for RHAG Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with RHAG: view

Variants for RHAG Gene

Sequence variations from dbSNP and Humsavar for RHAG Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs104893987 pathogenic, Rh-null hemolytic anemia, regulator type, Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150] 49,612,504(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs121918586 pathogenic, Rh-null hemolytic anemia, regulator type, Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150] 49,619,284(-) C/G/T coding_sequence_variant, missense_variant
rs121918587 pathogenic, Rh-null hemolytic anemia, regulator type, Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150] 49,612,506(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs121918588 pathogenic, Rh-mod syndrome 49,636,810(-) C/A initiator_codon_variant, missense_variant
rs121918589 pathogenic, Rh-null hemolytic anemia, regulator type, Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150] 49,606,921(-) C/A/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for RHAG Gene

Variant ID Type Subtype PubMed ID
dgv5960n100 CNV gain 25217958

Variation tolerance for RHAG Gene

Residual Variation Intolerance Score: 52.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.39; 71.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RHAG Gene

Human Gene Mutation Database (HGMD)
RHAG
Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group System
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RHAG

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RHAG Gene

Disorders for RHAG Gene

MalaCards: The human disease database

(10) MalaCards diseases for RHAG Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
rh-null, regulator type
  • rhn
overhydrated hereditary stomatocytosis
  • ohst
stomatocytosis i
  • overhydrated hereditary stomatocytosis
hemolytic anemia
  • anemia hemolytic
retinohepatoendocrinologic syndrome
  • rhe syndrome
- elite association - COSMIC cancer census association via MalaCards
Search RHAG in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RHAG_HUMAN
  • Overhydrated hereditary stomatocytosis (OHST) [MIM:185000]: An autosomal dominant disorder of red cell membrane permeability to monovalent cations, characterized by macrocytic hemolytic anemia of fluctuating severity, circulating erythrocytes with slit-like lucencies (stomata) evident on fixed, stained peripheral blood smears. OHST red cells exhibit cation leak, resulting in elevated cell sodium content with reduced potassium content. The disease is marked by splenomegaly or hepatosplenomegaly, cholelithiasis and a strong tendency for iron overload. {ECO:0000269 PubMed:18931342, ECO:0000269 PubMed:21849667, ECO:0000269 PubMed:22012326}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:10467273, ECO:0000269 PubMed:8563755, ECO:0000269 PubMed:9454778, ECO:0000269 PubMed:9716608}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RHAG

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RHAG: view

No data available for Genatlas for RHAG Gene

Publications for RHAG Gene

  1. The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein. (PMID: 18931342) Bruce LJ … Stewart GW (Blood 2009) 3 4 22 58
  2. 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. (PMID: 16378686) Norberg A … Holmberg M (Neuroscience letters 2006) 3 22 44 58
  3. Mechanism of genetic complementation of ammonium transport in yeast by human erythrocyte Rh-associated glycoprotein. (PMID: 14966114) Westhoff CM … Foskett JK (The Journal of biological chemistry 2004) 3 4 22 58
  4. The human Rhesus-associated RhAG protein and a kidney homologue promote ammonium transport in yeast. (PMID: 11062476) Marini AM … Chérif-Zahar B (Nature genetics 2000) 3 4 22 58
  5. Molecular basis for Rh(null) syndrome: identification of three new missense mutations in the Rh50 glycoprotein gene. (PMID: 10467273) Huang CH … Okubo Y (American journal of hematology 1999) 3 4 22 58

Products for RHAG Gene

Sources for RHAG Gene

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