ENSG00000023839


Homo sapiens

Features
Gene ID: ENSG00000023839
  
Biological name :ABCC2
  
Synonyms : ABCC2 / ATP binding cassette subfamily C member 2 / Q92887
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: 1
Band: q24.2
Gene start: 99782732
Gene end: 99852192
  
Corresponding Affymetrix probe sets: 206155_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000359463
Ensembl peptide - ENSP00000359478
NCBI entrez gene - 1244     See in Manteia.
OMIM - 601107
RefSeq - XM_011539291
RefSeq - NM_000392
RefSeq - XM_006717630
RefSeq Peptide - NP_000383
swissprot - Q92887
swissprot - Q5TCZ5
Ensembl - ENSG00000023839
  
Related genetic diseases (OMIM): 237500 - Dubin-Johnson syndrome, 237500
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
 abcc2ENSDARG00000014031Danio rerio
 ABCC2ENSGALG00000007395Gallus gallus
 Abcc2ENSMUSG00000025194Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ABCC1 / P33527 / ATP binding cassette subfamily C member 1ENSG0000010322247
ABCC3 / O15438 / ATP binding cassette subfamily C member 3ENSG0000010884645
ABCC5 / O15440 / ATP binding cassette subfamily C member 5ENSG0000011477031
ABCC4 / O15439 / ATP binding cassette subfamily C member 4ENSG0000012525731
ABCC9 / O60706 / ATP binding cassette subfamily C member 9ENSG0000006943130
ABCC8 / Q09428 / ATP binding cassette subfamily C member 8ENSG0000000607130
ABCC12 / Q96J65 / ATP binding cassette subfamily C member 12ENSG0000014079827
ABCC11 / Q96J66 / ATP binding cassette subfamily C member 11ENSG0000012127026
CFTR / P13569 / cystic fibrosis transmembrane conductance regulatorENSG0000000162624


Protein motifs (from Interpro)
Interpro ID Name
 IPR003439  ABC transporter-like
 IPR003593  AAA+ ATPase domain
 IPR005292  Multi drug resistance-associated protein
 IPR011527  ABC transporter type 1, transmembrane domain
 IPR017871  ABC transporter, conserved site
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR030247  Canalicular multispecific organic anion transporter 1
 IPR036640  ABC transporter type 1, transmembrane domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006855 drug transmembrane transport IEA
 biological_processGO:0006979 response to oxidative stress IEA
 biological_processGO:0007565 female pregnancy IEA
 biological_processGO:0009408 response to heat IEA
 biological_processGO:0015694 mercury ion transport IEA
 biological_processGO:0015711 organic anion transport IEA
 biological_processGO:0015722 canalicular bile acid transport IEA
 biological_processGO:0015723 bilirubin transport IEA
 biological_processGO:0015732 prostaglandin transport IEA
 biological_processGO:0016999 antibiotic metabolic process IEA
 biological_processGO:0030644 cellular chloride ion homeostasis IEA
 biological_processGO:0031427 response to methotrexate IEA
 biological_processGO:0032496 response to lipopolysaccharide IEA
 biological_processGO:0032870 cellular response to hormone stimulus IBA
 biological_processGO:0033762 response to glucagon IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0043627 response to estrogen IEA
 biological_processGO:0046685 response to arsenic-containing substance IEA
 biological_processGO:0048545 response to steroid hormone IEA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0070327 thyroid hormone transport IEA
 biological_processGO:0071222 cellular response to lipopolysaccharide IEA
 biological_processGO:0071347 cellular response to interleukin-1 IEA
 biological_processGO:0071354 cellular response to interleukin-6 IEA
 biological_processGO:0071356 cellular response to tumor necrosis factor IEA
 biological_processGO:0071549 cellular response to dexamethasone stimulus IEA
 biological_processGO:0097327 response to antineoplastic agent IEA
 biological_processGO:0099133 ATP hydrolysis coupled anion transmembrane transport IEA
 biological_processGO:1901086 benzylpenicillin metabolic process IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IEA
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0031526 brush border membrane IEA
 cellular_componentGO:0046581 intercellular canaliculus IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008514 organic anion transmembrane transporter activity IEA
 molecular_functionGO:0015127 bilirubin transmembrane transporter activity TAS
 molecular_functionGO:0016887 ATPase activity IEA
 molecular_functionGO:0019904 protein domain specific binding IEA
 molecular_functionGO:0022857 transmembrane transporter activity IEA
 molecular_functionGO:0042626 ATPase activity, coupled to transmembrane movement of substances IEA
 molecular_functionGO:0043225 ATPase-coupled anion transmembrane transporter activity TAS


Pathways (from Reactome)
Pathway description
ABC-family proteins mediated transport
Defective ABCC2 causes Dubin-Johnson syndrome


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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:0001080 Biliary tract abnormality 
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 HP:0001928 Abnormality of coagulation 
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 HP:0001945 Fever 
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 HP:0002027 Abdominal pain 
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0002908 Conjugated hyperbilirubinemia 
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 HP:0004295 Abnormality of the gastric mucosa 
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 HP:0012086 Abnormal urinary color "An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color." [HPO:probinson]
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 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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