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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 syndrom... See more...
Aliases for RHAG Gene
Aliases for RHAG Gene
- Rh Associated Glycoprotein 2 3 5
- Rhesus Blood Group-Associated Glycoprotein 2 3 4
- Ammonium Transporter Rh Type A 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
- SLC42A1 2 3
- CD241 2 3
- RH50A 2 3
- Rhesus Associated Polypeptide, 50-KD 3
External Ids for RHAG Gene
- HGNC: 10006
- Entrez Gene: 6005
- Ensembl: ENSG00000112077
- OMIM: 180297
- UniProtKB: Q02094
Previous GeneCards Identifiers for RHAG Gene
- GC06M049574
- GC06M049619
- GC06M049680
- GC06M049302
Summaries 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 Overhydrated Hereditary Stomatocytosis and Rh-Null, Regulator Type. Among its related pathways are O2/CO2 exchange in erythrocytes 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 Summary 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).
Additional gene information for RHAG Gene
- HGNC(10006)
- Entrez Gene(6005)
- Ensembl(ENSG00000112077)
- OMIM(180297)
- UniProtKB(Q02094)
- Open Targets Platform(ENSG00000112077)
- Monarch Initiative
- Search for RHAG at DataMed
- Search for RHAG at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RHAG Gene
Genomics for RHAG Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for RHAG Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around RHAG on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RHAG
- Top Transcription factor binding sites by QIAGEN in the RHAG gene promoter:
-
- AP-1
- ATF-2
- c-Jun
- HNF-3beta
- POU3F2
- POU3F2 (N-Oct-5a)
- POU3F2 (N-Oct-5b)
- PPAR-gamma1
- PPAR-gamma2
Genomic Locations for RHAG Gene
Genomic Locations for RHAG Gene
- chr6:49,605,175-49,636,874
- (GRCh38/hg38)
- Size:
- 31,700 bases
- Orientation:
- Minus strand
- chr6:49,572,871-49,604,587
- (GRCh37/hg19)
- Size:
- 31,717 bases
- Orientation:
- Minus strand
Genomic View for RHAG Gene
Genes around RHAG on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p12.3 by HGNC
- 6p12.3 by Entrez Gene
- 6p12.3 by Ensembl
RHAG Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for RHAG Gene
Proteins for RHAG Gene
-
Protein details for RHAG Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q02094-RHAG_HUMAN
- Recommended name:
- Ammonium transporter Rh type A
- Protein Accession:
- Q02094
- B2R8T8
- O43514
- O43515
- Q7L8L3
- Q9H454
Protein attributes for RHAG Gene
- Size:
- 409 amino acids
- Molecular mass:
- 44198 Da
- Quaternary structure:
-
- Heterotetramer.
Protein Expression for RHAG Gene
Post-translational modifications for RHAG Gene
- Glycosylated.
-
Glycosylation at Asn37 and Asn355
- NX_Q02094 (NX_Q02094-1)
- Modification sites at PhosphoSitePlus
Other Protein References for RHAG Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for RHAG
- Novus Biologicals Antibodies for RHAG
-
Abcam antibodies for RHAG
- Invitrogen Antibodies for RHAG (AFLGC-RHAG)
-
Boster Bio Antibodies for RHAG
-
Santa Cruz Biotechnology (SCBT) Antibodies for RHAG
Protein Products
-
OriGene Purified Proteins for RHAG
- Search Origene for MassSpec and Protein Over-expression Lysates for RHAG
- Origene Custom Protein Services for RHAG
- antibodies-online: Show 6 available RHAG Proteins ranked by validation data
- Compare Top RHAG Proteins
-
Quality Products:
-
Signalway Proteins for RHAG
-
Abcam proteins for RHAG
Assay Products
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:
-
- Rhesus blood group protein signature
- Rh-like protein/ammonium transporter
- ProtoNet:
Suggested Antigen Peptide Sequences for RHAG Gene
- GenScript: Design optimal peptide antigens:
-
- Rh50 protein (Q16416_HUMAN)
- Rh50 protein (Q16417_HUMAN)
- Rh-associated glycoprotein (Q96E98_HUMAN)
- Rh50 glycoprotein (Q9UBB8_HUMAN)
- Rh-associated glycoprotein, isoform CRA_c (Q9UHG9_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q02094UniProtKB/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.
Function for RHAG Gene
Molecular function for RHAG Gene
- 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).
- 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
Phenotypes From GWAS Catalog 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 | -- |
Phenotypes for RHAG Gene
- MGI mutant phenotypes for RHAG:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for RHAG:
Animal Models for RHAG Gene
- MGI Knock Outs for RHAG:
-
- Rhag Rhag<tm1Goo>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RHAG - Select products 50% OFF >
- * RHAG CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for RHAG
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RHAG
-
Santa Cruz Biotechnology (SCBT) CRISPR for RHAG
miRNA for RHAG Gene
- miRTarBase miRNAs that target RHAG
-
- hsa-miR-148b-3p (MIRT019341)
- hsa-miR-9-5p (MIRT053366)
- mmu-miR-3110-5p (MIRT597454)
- mmu-miR-5125 (MIRT597455)
- mmu-miR-150-5p (MIRT597456)
- mmu-miR-5127 (MIRT597457)
- mmu-miR-335-5p (MIRT597458)
- mmu-miR-1186b (MIRT597459)
- mmu-miR-1971 (MIRT597460)
- mmu-miR-1981-5p (MIRT597461)
- mmu-miR-188-5p (MIRT603460)
- mmu-miR-3064-5p (MIRT603461)
- mmu-miR-3085-3p (MIRT603462)
- mmu-miR-3087-3p (MIRT603463)
- mmu-miR-3470a (MIRT603464)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RHAG
- Browse OriGene Inhibitory RNA Products For RHAG
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RHAG
Clone Products
- Applied Biological Materials (abm): Clones for RHAG - Select products 50% OFF >
- * RHAG as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for RHAG
- Addgene plasmids for RHAG
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RHAG
Cell Line Products
-
Horizon Cell Lines for RHAG
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Endoplasmic reticulum (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005623 | cell | IEA | -- |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | TAS,IBA | 21873635 |
| GO:0016020 | membrane | IEA,IDA | 22012326 |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for RHAG Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds |
.37
|
|
| 2 | O2/CO2 exchange in erythrocytes | ||
| 3 | Metabolism |
.40
|
|
Pathways by source for RHAG Gene
Interacting Proteins for RHAG Gene
Selected Interacting proteins:
Q02094-RHAG_HUMAN
ENSP00000360217
for RHAG Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for RHAG
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006873 | cellular ion homeostasis | IDA | 15856280 |
| GO:0015670 | carbon dioxide transport | IDA | 16574458 |
| GO:0015672 | monovalent inorganic cation transport | IDA | 18931342 |
| GO:0015696 | ammonium transport | IEA,IGI | 11062476 |
| GO:0015701 | bicarbonate transport | TAS | -- |
No data available for SIGNOR curated interactions for RHAG Gene
Transcripts for RHAG Gene
mRNA/cDNA for RHAG Gene
- 1 REFSEQ mRNAs :
- 14 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000229810 1283 nts (view in UCSC)
- ENST00000371175 1895 nts (view in UCSC)
- ENST00000618248 1203 nts (view in UCSC)
- ENST00000642530 1104 nts (view in UCSC)
- ENST00000646272 2014 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RHAG - Select products 50% OFF >
- * RHAG CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for RHAG
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RHAG
-
Santa Cruz Biotechnology (SCBT) CRISPR for RHAG
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RHAG
- Browse OriGene Inhibitory RNA Products For RHAG
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RHAG
Clone Products
- Applied Biological Materials (abm): Clones for RHAG - Select products 50% OFF >
- * RHAG as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for RHAG
- Addgene plasmids for RHAG
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RHAG
Relevant External Links for RHAG Gene
- GeneLoc Exon Structure for
- RHAG
Expression for RHAG Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Liver (Hepatobiliary System)
- Mesothelial Cells Hepatic Mesenchyme
- Liver Lobule
-
Blood (Hematopoietic System)
- Erythroblasts Hematopoietic Bone Marrow
-
Mesoderm (Gastrulation Derivatives)
- Mesothelial Cells Hepatic Mesenchyme
- Bone (Muscoskeletal System)
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).
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 and MOPED for RHAG Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RHAG
SOURCE GeneReport for Unigene cluster for RHAG Gene:
Hs.120950mRNA Expression by UniProt/SwissProt for RHAG Gene:
Q02094-RHAG_HUMAN
Tissue specificity:
Erythrocytes.
Evidence on tissue expression from TISSUES for RHAG Gene
- Bone marrow(4.5)
- Liver(4.5)
- Heart(4.4)
- Blood(3.5)
- Nervous system(2.5)
- Skin(2.4)
- Intestine(2.2)
- Kidney(2.2)
- Eye(2.1)
- Lung(2.1)
- Muscle(2)
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
Primer Products
-
OriGene qPCR primer pairs for RHAG
-
OriGene qPCR primer pairs and template standards for RHAG
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | RHAG 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | RHAG 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Rhag 30 17 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | RHAG 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Rhag 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | RHAG 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | RHAG 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | RHAG 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | RHAG 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100495681 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Rh50 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | rhag 30 31 |
|
OneToOne | |
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.3979 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Rh50 31 32 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | rhr-1 30 31 32 |
|
ManyToMany | |
| rhr-2 31 32 |
|
ManyToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7848 31 |
|
ManyToMany | |
| CSA.7075 31 |
|
ManyToMany | |||
| -- 31 |
|
ManyToMany |
- Species where no ortholog for RHAG was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for RHAG: view image
Paralogs for RHAG Gene
(11) SIMAP similar genes for RHAG Gene using alignment to 7 proteins:
- RHAG_HUMAN
- M1SZX7_HUMAN
- M5FJR4_HUMAN
- Q96E98_HUMAN
- Q9UBB8_HUMAN
- Q9UHG9_HUMAN
- Q9UK69_HUMAN
Variants for RHAG Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RHAG Gene
| SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 741788 | Likely Benign: not provided | 49,611,101(-) | G/A | SYNONYMOUS_VARIANT | |
| 792184 | Likely Benign: not provided | 49,611,016(-) | T/C | INTRON_VARIANT | |
| rs104893987 | Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150] | p.Gly280Arg | |||
| rs121918586 | Pathogenic: Rh-mod syndrome. Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150] | 49,619,284(-) | C/Tp.Ser79Asn | MISSENSE_VARIANT | |
| rs121918587 | Pathogenic: Rh-null, regulator type. Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150] | 49,612,506(-) | C/Tp.Gly279Glu | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv5960n100 | CNV | gain | 25217958 |
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
- Blood Group Antigen Gene Mutation Database (BGMUT)
- Blood Group System
- Human Gene Mutation Database (HGMD)
- RHAG
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- RHAG
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RHAG Gene
Disorders for RHAG Gene
(16) MalaCards diseases for RHAG Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| overhydrated hereditary stomatocytosis |
|
|
| rh-null, regulator type |
|
|
| retinohepatoendocrinologic syndrome |
|
|
| hereditary stomatocytosis |
|
|
| hemolytic anemia |
|
Search RHAG in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
RHAG_HUMAN- 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.
- 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.
Additional Disease Information for RHAG
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for RHAG Gene
Publications for RHAG Gene
- Human RhAG ammonia channel is impaired by the Phe65Ser mutation in overhydrated stomatocytic red cells. (PMID: 22012326) Genetet S … Mouro-Chanteloup I (American journal of physiology. Cell physiology 2012) 2 3 4
- 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 23
- 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 23 41
- 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 23
- 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 23
ExternalLinks
Products for RHAG Gene
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- Origene shrna, sirna, and RNAi products in human, mouse, rat for RHAG
- Browse OriGene Inhibitory RNA Products For RHAG
- OriGene qPCR primer pairs for RHAG
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- Abcam antibodies for RHAG
- Abcam proteins for RHAG
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- Browse Primary Antibodies
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- Invitrogen Antibodies for RHAG (AFLGC-RHAG)
- VectorBuilder Custom and pre-made DNA vectors for RHAG (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for RHAG (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for RHAG (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for RHAG CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for RHAG
- Addgene plasmids for RHAG
- antibodies-online: Show 3 available RHAG Antibodies ranked by validation data
- Compare Top RHAG Antibodies
- antibodies-online: Show 12 available RHAG Elisa Kits ranked by validation data
- Compare Top RHAG Elisa Kits
- antibodies-online: Show 6 available RHAG Proteins ranked by validation data
- Compare Top RHAG Proteins
- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for RHAG
- Search Santa Cruz Biotechnology (SCBT) for RHAG siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for RHAG
- Horizon Cell Lines for RHAG
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RHAG
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RHAG
- Search GeneCopoeia for miRNA 3'UTR Target clone products for RHAG
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RHAG
- Boster Bio Antibodies for RHAG
- Browse Boster Bio ELISA Kits
- Signalway Proteins for RHAG
Sources for RHAG Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB