ENSG00000112077


Homo sapiens

Features
Gene ID: ENSG00000112077
  
Biological name :RHAG
  
Synonyms : Q02094 / RHAG / Rh associated glycoprotein
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: p12.3
Gene start: 49605158
Gene end: 49636884
  
Corresponding Affymetrix probe sets: 206145_at (Human Genome U133 Plus 2.0 Array)   206146_s_at (Human Genome U133 Plus 2.0 Array)   211254_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000494709
Ensembl peptide - ENSP00000482984
Ensembl peptide - ENSP00000495337
Ensembl peptide - ENSP00000494337
Ensembl peptide - ENSP00000229810
Ensembl peptide - ENSP00000360217
NCBI entrez gene - 6005     See in Manteia.
OMIM - 180297
RefSeq - NM_000324
RefSeq Peptide - NP_000315
swissprot - A0A0A0MQS8
swissprot - A0A087WZZ4
swissprot - Q02094
swissprot - Q9UHG9
Ensembl - ENSG00000112077
  
Related genetic diseases (OMIM): 185000 - Overhydrated hereditary stomatocytosis, 185000
  268150 - Anemia, hemolytic, Rh-null, regulator type, 268150
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 rhagENSDARG00000019253Danio rerio
 RHAGENSGALG00000016684Gallus gallus
 RhagENSMUSG00000023926Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
RHCG / Q9UBD6 / Rh family C glycoproteinENSG0000014051953
RHBG / Q9H310 / Rh family B glycoprotein (gene/pseudogene)ENSG0000013267751
RHCE / P18577 / Rh blood group CcEe antigensENSG0000018867235
RHD / Q02161 / Rh blood group D antigenENSG0000018701031


Protein motifs (from Interpro)
Interpro ID Name
 IPR002229  Blood group Rhesus C/E/D polypeptide
 IPR024041  Ammonium transporter AmtB-like domain
 IPR029020  Ammonium/urea transporter


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006873 cellular ion homeostasis IDA
 biological_processGO:0015670 carbon dioxide transport IDA
 biological_processGO:0015672 monovalent inorganic cation transport IDA
 biological_processGO:0015695 organic cation transport IBA
 biological_processGO:0015696 ammonium transport IEA
 biological_processGO:0015701 bicarbonate transport TAS
 biological_processGO:0035378 carbon dioxide transmembrane transport IEA
 biological_processGO:0048821 erythrocyte development IEA
 biological_processGO:0060586 multicellular organismal iron ion homeostasis IEA
 biological_processGO:0072488 ammonium transmembrane transport IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0008519 ammonium transmembrane transporter activity IEA
 molecular_functionGO:0022840 leak channel activity IDA
 molecular_functionGO:0030506 ankyrin binding IPI
 molecular_functionGO:0035379 carbon dioxide transmembrane transporter activity TAS


Pathways (from Reactome)
Pathway description
Erythrocytes take up carbon dioxide and release oxygen
Erythrocytes take up oxygen and release carbon dioxide
Rhesus glycoproteins mediate ammonium transport.
Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000952 Jaundice "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators]
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0001878 Hemolytic anemia 
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 HP:0001923 Reticulocytosis 
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0002904 Hyperbilirubinemia 
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 HP:0003575 Increased intracellular sodium 
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 HP:0004446 Stomatocytosis 
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 HP:0005502 Increased red cell osmotic fragility 
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 HP:0008282 Unconjugated hyperbilirubinemia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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