ENSG00000107331


Homo sapiens

Features
Gene ID: ENSG00000107331
  
Biological name :ABCA2
  
Synonyms : ABCA2 / ATP binding cassette subfamily A member 2 / Q9BZC7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: -1
Band: q34.3
Gene start: 137007227
Gene end: 137028922
  
Corresponding Affymetrix probe sets: 210099_at (Human Genome U133 Plus 2.0 Array)   210100_s_at (Human Genome U133 Plus 2.0 Array)   212772_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000420084
Ensembl peptide - ENSP00000485459
Ensembl peptide - ENSP00000481105
Ensembl peptide - ENSP00000420360
Ensembl peptide - ENSP00000420289
Ensembl peptide - ENSP00000265662
Ensembl peptide - ENSP00000344155
Ensembl peptide - ENSP00000360666
Ensembl peptide - ENSP00000418662
Ensembl peptide - ENSP00000419850
NCBI entrez gene - 20     See in Manteia.
OMIM - 600047
RefSeq - NM_001606
RefSeq - NM_212533
RefSeq - XM_006716996
RefSeq Peptide - NP_001597
RefSeq Peptide - NP_997698
swissprot - E9PGB2
swissprot - J3QSS3
swissprot - Q9BZC7
swissprot - H7C5M6
swissprot - A0A096LP90
swissprot - A0A087WXK5
swissprot - H0Y8C9
swissprot - H0Y8D6
swissprot - H0Y8E3
Ensembl - ENSG00000107331
  
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
 abca2ENSDARG00000013500Danio rerio
 ABCA2ENSGALG00000036894Gallus gallus
 Abca2ENSMUSG00000026944Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ABCA1 / O95477 / ATP binding cassette subfamily A member 1ENSG0000016502939
ABCA4 / P78363 / ATP binding cassette subfamily A member 4ENSG0000019869135
ABCA7 / Q8IZY2 / ATP binding cassette subfamily A member 7ENSG0000006468733
ABCA12 / Q86UK0 / ATP binding cassette subfamily A member 12ENSG0000014445228
ABCA13 / Q86UQ4 / ATP binding cassette subfamily A member 13ENSG0000017986927
ABCA3 / Q99758 / ATP binding cassette subfamily A member 3ENSG0000016797225
ABCA8 / O94911 / ATP binding cassette subfamily A member 8ENSG0000014133817
ABCA5 / Q8WWZ7 / ATP binding cassette subfamily A member 5ENSG0000015426517
ABCA9 / Q8IUA7 / ATP binding cassette subfamily A member 9ENSG0000015425817
ABCA6 / Q8N139 / ATP binding cassette subfamily A member 6ENSG0000015426216
ABCA10 / Q8WWZ4 / ATP binding cassette subfamily A member 10ENSG0000015426316


Protein motifs (from Interpro)
Interpro ID Name
 IPR003439  ABC transporter-like
 IPR003593  AAA+ ATPase domain
 IPR017871  ABC transporter, conserved site
 IPR026082  ABC transporter A
 IPR027417  P-loop containing nucleoside triphosphate hydrolase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IDA
 biological_processGO:0006629 lipid metabolic process NAS
 biological_processGO:0032383 regulation of intracellular cholesterol transport IMP
 biological_processGO:0042493 response to drug TAS
 biological_processGO:0042632 cholesterol homeostasis IEP
 biological_processGO:0048545 response to steroid hormone IEP
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0070723 response to cholesterol IEP
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005765 lysosomal membrane NAS
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005815 microtubule organizing center ISS
 cellular_componentGO:0010008 endosome membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle ISS
 cellular_componentGO:0043190 ATP-binding cassette (ABC) transporter complex NAS
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016887 ATPase activity IEA
 molecular_functionGO:0042626 ATPase activity, coupled to transmembrane movement of substances IEA


Pathways (from Reactome)
Pathway description
ABC transporters in lipid homeostasis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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