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RHAG - Rh associated glycoprotein Gene

Also Known as OHS; RH2; OHST; RHNR; Rh50; CD241; RH50A; Rh50GP; SLC42A1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6005

About RHAG

Cytogenetic location: 6p12.3 Genomic coordinates (GRCh38): 6:49,605,175-49,636,839 (from NCBI)

This gene has 6 transcripts (splice variants), 213 orthologues, 4 paralogues and is associated with 4 phenotypes. Restricted expression toward bone marrow (RPKM 40.5).

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]

RHAG Products (1)

mRNA	Protein	Name
NM_000324.3	NP_000315.2	ammonium transporter Rh type A

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ammonium channel activity	IDA IDA: Inferred from direct assay	15856280	GOA
enables ammonium channel activity	IGI IGI: Inferred from genetic interaction	11062476	GOA
enables ankyrin binding	IPI IPI: Inferred from physical interaction	12719424	GOA
enables carbon dioxide transmembrane transporter activity	IDA IDA: Inferred from direct assay	19273840	GOA
enables leak channel activity	IDA IDA: Inferred from direct assay	18931342	GOA
enables methylammonium transmembrane transporter activity	IDA IDA: Inferred from direct assay	15856280	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in ammonium transmembrane transport	IDA IDA: Inferred from direct assay	11861637	GOA
involved in ammonium transmembrane transport	IGI IGI: Inferred from genetic interaction	11062476	GOA
involved in ammonium transmembrane transport	IMP IMP: Inferred from mutant phenotype	22012326	GOA
involved in carbon dioxide transmembrane transport	IDA IDA: Inferred from direct assay	19273840	GOA
involved in carbon dioxide transport	IDA IDA: Inferred from direct assay	16574458	GOA
involved in inorganic cation transmembrane transport	IDA IDA: Inferred from direct assay	18931342	GOA
involved in intracellular monoatomic ion homeostasis	IDA IDA: Inferred from direct assay	15856280	GOA
involved in methylammonium transmembrane transport	IDA IDA: Inferred from direct assay	15856280	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of ankyrin-1 complex	IDA IDA: Inferred from direct assay	35835865	GOA
located in membrane	IDA IDA: Inferred from direct assay	22012326	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	15929723	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RHAG Protein Structure

Ammonium_transp

0
100
200
300
409 a.a.

Protein Preferred Names	Protein Names
ammonium transporter Rh type A	Rh 50 glycoprotein

RHAG Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RHAG	Q02094	UNC93A	Homo sapiens	Q86WB7-2	Validated Y2H	32296183
Intra	RHAG	Q02094	UNC93A	Homo sapiens	Q86WB7-2	Y2H Array	32296183
Intra	RHAG	Q02094	UNC93A	Homo sapiens	Q86WB7-2	Y2H Prey Pooling	32296183
Intra	RHAG	Q02094	FAM209A	Homo sapiens	Q5JX71	Y2H Prey Pooling	32296183
Intra	RHAG	Q02094	FAM209A	Homo sapiens	Q5JX71	Validated Y2H	32296183
Intra	RHAG	Q02094	FAM209A	Homo sapiens	Q5JX71	Y2H Array	32296183
Intra	RHAG	Q02094	TEX29	Homo sapiens	Q8N6K0	Y2H Prey Pooling	32296183
Intra	RHAG	Q02094	TEX29	Homo sapiens	Q8N6K0	Validated Y2H	32296183
Intra	RHAG	Q02094	TEX29	Homo sapiens	Q8N6K0	Y2H Array	32296183
Intra	RHAG	Q02094	ERGIC3	Homo sapiens	Q9Y282	Validated Y2H	32296183
Intra	RHAG	Q02094	ERGIC3	Homo sapiens	Q9Y282	Y2H Array	32296183
Intra	RHAG	Q02094	ERGIC3	Homo sapiens	Q9Y282	Y2H Prey Pooling	32296183
Intra	RHAG	Q02094	CREB3L3	Homo sapiens	Q68CJ9	Validated Y2H	32296183
Intra	RHAG	Q02094	CREB3L3	Homo sapiens	Q68CJ9	Y2H Array	32296183
Intra	RHAG	Q02094	CREB3L3	Homo sapiens	Q68CJ9	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Overhydrated Hereditary Stomatocytosis	Ohs Potassium Sodium Disorder Of Erythrocyte OHST Stomatocytosis I Potassium-Sodium Disorder Of Erythrocyte Stomatocytosisiohst Hereditary, Overhydrated, Cation-Leak Stomatocytosis Overhydrated Cation Leak Stomatocytosis Stomatocytosis, Overhydrated Hereditary
Rh-Null, Regulator Type	Anemia, Hemolytic, Rh-Null, Regulator Type RHNR Rh-Null Hemolytic Anemia, Regulator Type Rh-Null Disease, Regulator Type Regulator Type Rh-Null Hemolytic Anemia RHN Rh-Deficiency Syndrome Rh Deficiency Syndrome
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Rh Deficiency Syndrome Rh Disease HDFNRH Rh Fetomaternal Incompatibility Rh-Null Syndrome
Hemolytic Anemia	Anemia, Hemolytic Anemia Hemolytic Anaemia Due To Other Disorders Of Glutathione Metabolism Chronic Non Spherocytic Anaemia G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia Favism Anaemia Haemolytic Anaemia Due Tog6pd Deficiency Favism Pentose Phosphate Pathway Disorder Anaemia Anaemia Due To Pentose Phosphate Pathway Defect
Hereditary Stomatocytosis	Hereditary Stomatocytic Disease
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Dehydrated Hereditary Stomatocytosis Hereditary Xerocytosis Xerocytosis, Hereditary Pshk1 Pseudohyperkalemia Edinburgh Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/Or Perinatal Edema DHS1 Dhs Hereditary Desiccytosis Dehydrated Hereditary Stomatocytosis 1 Desiccytosis, Hereditary Pseudohyperkalemia, Familial, 1, Due To Red Cell Leak Pseudohyperkalemia Familial 1, Due To Red Cell Leak Desiccytosis Hereditary Xerocytosis Hereditary Familial Pseudohyperkalemia 1 Due To Red Cell Leak Stomatocytosis, Dehydrated, Hereditary, With/Without Pseudohyperkalemia And/Or Perinatal Edema Xerocytosis
Spastic Paraplegia 27, Autosomal Recessive	SPG27 Hereditary Spastic Paraplegia 27 Autosomal Recessive Spastic Paraplegia Type 27 Autosomal Recessive Spastic Paraplegia 27 Spastic Paraplegia-27, Autosomal Recessive
Colorblindness, Partial, Protan Series	Protanopia Red Color Blindness Protan Defect CBP Red Colorblindness Colorblindness, Protan Color Blindness, Red
Hereditary Elliptocytosis	Congenital Elliptocytosis Ovalocytosis Elliptocytosis, Hereditary He Elliptocytosis Hereditary Congenital Ovalocytosis Elliptocytosis Hereditary Elliptocytosis With Infantile Poikilocytosis Hereditary Ovalocytosis Oval Erythrocytosis He - [Hereditary Elliptocytosis] Elliptocytosis Anaemia
Hereditary Spherocytosis	Congenital Spherocytic Hemolytic Anemia Spherocytic Anemia Congenital Spherocytosis Spherocytosis, Type 1 Minkowski Chauffard Syndrome Hs Minkowski-Chauffard Disease Minkowski-Chauffard Syndrome Spherocytosis Hereditary Spherocytosis, Hereditary Anemia, Hereditary Spherocytic Hemolytic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11930	RHAG Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22303	Rhag Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	RHAG	VGNC	VGNC:76693
Canis familiaris	RHAG	VGNC	VGNC:45542
Rattus norvegicus	RHAG	RGD	RGD:61871
Mus musculus	RHAG	MGD	MGI:1202713
Felis catus	RHAG	VGNC	VGNC:64601
Bos taurus	RHAG	VGNC	VGNC:33929