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
- 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
External Ids for RHAG Gene
- HGNC: 10006
- Entrez Gene: 6005
- Ensembl: ENSG00000112077
- OMIM: 180297
- UniProtKB: Q02094
Previous GeneCards Identifiers for RHAG Gene
- GC06M049574
- GC06M049619
- 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 Rh-Null, Regulator Type and Overhydrated Hereditary Stomatocytosis. Among its related pathways are Erythrocytes take up carbon dioxide and release oxygen 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).
Additional gene information for RHAG Gene
- Monarch Initiative
- Search for RHAG at DataMed
- Search for RHAG at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RHAG Gene
Genomics for RHAG Gene
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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH06J049636 | Promoter | 1.2 | EPDnew | 650.7 | +0.0 | 25 | 0.1 | SMAD1 ATF1 ARNT TCF12 POLR2B ZNF766 CBX5 GATA2 ATF7 NCOA1 | RHAG GC06P049628 | |
| GH06J049645 | Enhancer | 1.2 | FANTOM5 ENCODE | 20.4 | -10.1 | -10069 | 3.4 | PKNOX1 SMAD1 ATF1 ARNT NCOA2 TCF12 ZNF766 GATA2 ATF7 CAVIN1 | RHAG LOC101927048 LOC101927020 CRISP3 C6orf141 CENPQ CRISP2 | |
| GH06J049666 | Enhancer | 0.9 | ENCODE | 0.3 | -30.5 | -30473 | 0.9 | HDGF HDAC1 PKNOX1 ATF1 ARNT NFRKB BMI1 TCF12 ATF7 CREM | CRISP3 PGK2 C6orf141 RHAG CRISP2 | |
| GH06J049606 | Enhancer | 0.9 | ENCODE | 0.3 | +29.9 | 29862 | 0.6 | HDGF SMAD1 ARNT ARID4B NCOA2 ZNF213 ZNF143 REST KAT8 MIER3 | LOC101927020 LOC101927048 GC06P049628 GC06P049582 RHAG | |
| GH06J049668 | Enhancer | 0.7 | ENCODE | 0.3 | -31.3 | -31260 | 0.3 | MEIS2 CLOCK ESRRA NEUROD1 CEBPG CTBP1 GATA3 BRD9 FOSL2 FOS | CRISP3 PGK2 CRISP2 LOC101927020 RHAG |
- 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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the RHAG gene promoter:
-
- c-Jun
- ATF-2
- AP-1
- PPAR-gamma2
- PPAR-gamma1
- HNF-3beta
- POU3F2
- POU3F2 (N-Oct-5a)
- POU3F2 (N-Oct-5b)
Regulatory Element Products
Genomic Locations for RHAG Gene
Genomic Locations for RHAG Gene
- chr6:49,605,158-49,636,884
- (GRCh38/hg38)
- Size:
- 31,727 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 Entrez Gene
- 6p12.3 by HGNC
- 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 Asn355 and posLast=3737
- 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)
- GeneTex RHAG Antibody for RHAG
-
Biorbyt antibodies for 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: Search results for 5 available RHAG Proteins ranked by validation data
- Compare Top RHAG Proteins
-
Quality Products:
- Search GeneTex for 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
Suggested Antigen Peptide Sequences for RHAG Gene
- GenScript: Design optimal peptide antigens:
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
- Cyagen custom Knockout/knockin (KOKI) mouse models for RHAG
-
CRISPR Products
-
OriGene CRISPR knockouts for RHAG
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RHAG
- genomics-online: gRNA clones - Search results for 110 available RHAG gene related products
- Overview of 110 available RHAG gene related products
- Applied Biological Materials CRISPR for RHAG
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for RHAG
- GenScript: Design CRISPR guide RNA sequences for RHAG
miRNA for RHAG Gene
- miRTarBase miRNAs that target 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
- genomics-online: shRNA clones - Search results for 110 available RHAG gene related products
- Overview of 110 available RHAG gene related products
Clone Products
- Sino Biological Human cDNA Clone for RHAG
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RHAG
- Applied Biological Materials Clones for RHAG
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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 |
| nucleus | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
- Endoplasmic reticulum (1)
| 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 | -- |
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 | Erythrocytes take up carbon dioxide and release oxygen | ||
| 3 | Metabolism |
.37
|
|
Pathways by source for RHAG Gene
Interacting Proteins for RHAG Gene
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:0015695 | organic cation transport | IBA | -- |
| GO:0015696 | ammonium transport | IGI,IEA | 11062476 |
No data available for SIGNOR curated interactions for RHAG Gene
Transcripts for RHAG Gene
mRNA/cDNA for RHAG Gene
- (2) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (65) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000371175 1957 bps (uc003ozk.5)
- ENST00000646272 2014 bps
- ENST00000646939 1225 bps
- ENST00000646963 1183 bps
- ENST00000646874 623 bps
Unigene Clusters for RHAG Gene
- Rh-associated glycoprotein:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for RHAG
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RHAG
- genomics-online: gRNA clones - Search results for 110 available RHAG gene related products
- Overview of 110 available RHAG gene related products
- Applied Biological Materials CRISPR for RHAG
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for RHAG
- GenScript: Design CRISPR guide RNA sequences 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
- genomics-online: shRNA clones - Search results for 110 available RHAG gene related products
- Overview of 110 available RHAG gene related products
Clone Products
- Sino Biological Human cDNA Clone for RHAG
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RHAG
- Applied Biological Materials Clones for RHAG
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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
NURSA nuclear receptor signaling pathways regulating expression of RHAG Gene:
RHAGSOURCE 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(4.4)
- 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
Primer Products
-
OriGene qPCR primer pairs for RHAG
-
OriGene qPCR primer pairs and template standards for RHAG
- genomics-online: primer clones - Search results for 110 available RHAG gene related products
- Overview of 110 available RHAG gene related products
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 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | RHAG 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Rhag 16 34 33 |
|
||
| cow (Bos Taurus) |
Mammalia | RHAG 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Rhag 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | RHAG 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | RHAG 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | RHAG 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | RHAG 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100495681 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Rh50 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | rhag 34 33 |
|
OneToOne | |
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.3979 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Rh50 34 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | rhr-1 34 35 33 |
|
ManyToMany | |
| rhr-2 34 35 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.7848 34 |
|
ManyToMany | |
| CSA.7075 34 |
|
ManyToMany | |||
| -- 34 |
|
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)
- 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
| 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 |
| 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
- 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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RHAG Gene
Disorders for RHAG Gene
(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 |
|
|
| overhydrated hereditary stomatocytosis |
|
|
| stomatocytosis i |
|
|
| hemolytic anemia |
|
|
| retinohepatoendocrinologic syndrome |
|
|
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
No data available for Genatlas for RHAG Gene
Publications for RHAG Gene
- 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
- 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
- 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
- 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
- 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
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for RHAG
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for RHAG
- Search Origene for MassSpec and Protein Over-expression Lysates for RHAG
- Origene Custom Protein Services for RHAG
- 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
- OriGene qPCR primer pairs and template standards for RHAG
- OriGene CRISPR knockouts for RHAG
- OriGene ORF clones in human for RHAG
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For RHAG
- GenScript: Next-day shipping of latest version cDNA ORF clones for RHAG in any vector
- GenScript Custom Purified and Recombinant Proteins Services for RHAG
- GenScript Custom Assay Services for RHAG
- GenScript Custom overexpressing Cell Line Services for RHAG
- GenScript: Design CRISPR guide RNA sequences for RHAG
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for RHAG
- Sino Biological Human cDNA Clone for RHAG
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for RHAG
- Novus Biologicals proteins and lysates for RHAG
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for RHAG
- Abcam proteins for RHAG
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for RHAG (AFLGC-RHAG)
- Cyagen custom Knockout/knockin (KOKI) mouse models for RHAG
- antibodies-online: Search results for 12 available RHAG Antibodies ranked by validation data
- Compare Top RHAG Antibodies
- antibodies-online: Search results for 12 available RHAG Elisa Kits ranked by validation data
- Compare Top RHAG Elisa Kits
- antibodies-online: Search results for 5 available RHAG Proteins ranked by validation data
- Compare Top RHAG Proteins
- Quality Products:
- GeneTex RHAG Antibody for RHAG
- Search GeneTex for Proteins for RHAG
- 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
- genomics-online: cdna clones - Search results for 110 available RHAG gene related products
- Overview of 110 available RHAG gene related products
- orf clones - Search results for 110 available RHAG gene related products
- Overview of 110 available RHAG gene related products
- genomics-online: gRNA clones - Search results for 110 available RHAG gene related products
- Overview of 110 available RHAG gene related products
- genomics-online: primer clones - Search results for 110 available RHAG gene related products
- Overview of 110 available RHAG gene related products
- genomics-online: shRNA clones - Search results for 110 available RHAG gene related products
- Overview of 110 available RHAG gene related products
- 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
- GeneCopoeia 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
- Biorbyt antibodies for RHAG
Sources for RHAG Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt