Free for academic non-profit institutions. Other users need a Commercial license
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 (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.
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 | -- |
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 | -- |
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
|
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 | -- |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
overhydrated hereditary stomatocytosis |
|
|
rh-null, regulator type |
|
|
retinohepatoendocrinologic syndrome |
|
|
hereditary stomatocytosis |
|
|
hemolytic anemia |
|