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Aliases for ABCA2 Gene

Aliases for ABCA2 Gene

  • ATP Binding Cassette Subfamily A Member 2 2 3 5
  • ATP-Binding Cassette, Sub-Family A (ABC1), Member 2 2 3
  • ATP-Binding Cassette Transporter 2 3 4
  • ATP-Binding Cassette 2 3 4
  • ABC2 3 4
  • ATP-Binding Cassette, Sub-Family A, Member 2 3
  • ATP-Binding Cassette Sub-Family A Member 2 3
  • EC 3.6.3.41 61
  • KIAA1062 4
  • EC 3.6.3 61

External Ids for ABCA2 Gene

Previous HGNC Symbols for ABCA2 Gene

  • ABC2

Previous GeneCards Identifiers for ABCA2 Gene

  • GC09P131061
  • GC09M131591
  • GC09M133342
  • GC09M135258
  • GC09M137177
  • GC09M139021
  • GC09M139901
  • GC09M109360

Summaries for ABCA2 Gene

Entrez Gene Summary for ABCA2 Gene

  • The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for ABCA2 Gene

ABCA2 (ATP Binding Cassette Subfamily A Member 2) is a Protein Coding gene. Diseases associated with ABCA2 include Acoustic Neuroma. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and CDK-mediated phosphorylation and removal of Cdc6. GO annotations related to this gene include nucleotide binding and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCA1.

UniProtKB/Swiss-Prot for ABCA2 Gene

  • Probable transporter, its natural substrate has not been found yet. May have a role in macrophage lipid metabolism and neural development.

Gene Wiki entry for ABCA2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCA2 Gene

Genomics for ABCA2 Gene

Regulatory Elements for ABCA2 Gene

Enhancers for ABCA2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G136990 1.7 FANTOM5 Ensembl ENCODE 16.3 +33.0 32959 10.9 HDGF PKNOX1 CREB3L1 ARNT AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 LCN12 ABCA2 ANAPC2 PRR31 C9orf139 SNHG7 LCNL1 RABL6 CCDC183 LOC100418938
GH09G136787 1.7 Ensembl ENCODE dbSUPER 14.8 +234.3 234261 14.2 MLX AGO1 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC MEF2D LCN8 ABCA2 NALT1 LCN10 TMEM141 LCN12 PRR31 FBXW5 C8G DPH7
GH09G136881 1.6 Ensembl ENCODE dbSUPER 11.4 +146.3 146312 2.7 HDGF PKNOX1 FOXA2 MLX AGO1 ARID4B SIN3A DMAP1 YY1 SLC30A9 PHPT1 MAMDC4 C9orf172 TMEM141 LCN12 PRR31 FBXW5 C8G RABL6 C9orf139
GH09G136884 1.3 ENCODE dbSUPER 11.4 +142.7 142700 3.1 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZBTB7B ZNF207 ZNF143 FOS PHPT1 SNHG7 MAMDC4 C9orf172 C8G FBXW5 LCN12 TMEM141 PRR31 CCDC183-AS1
GH09G137233 1.8 FANTOM5 ENCODE dbSUPER 7.8 -209.3 -209332 9.9 MLX CREB3L1 AGO1 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF263 SP3 NDOR1 DPH7 TMEM203 NELFB LCN15 ABCA2 TOR4A UAP1L1 RNF224 CYSRT1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ABCA2 on UCSC Golden Path with GeneCards custom track

Promoters for ABCA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000243126 674 1001 SIN3A ZNF2 ZBTB7B ZNF766 GLIS2 KLF7 SP3 SMARCB1 ZNF579 SMARCA4

Genomic Location for ABCA2 Gene

Chromosome:
9
Start:
137,007,227 bp from pter
End:
137,028,974 bp from pter
Size:
21,748 bases
Orientation:
Minus strand

Genomic View for ABCA2 Gene

Genes around ABCA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCA2 Gene

Proteins for ABCA2 Gene

  • Protein details for ABCA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZC7-ABCA2_HUMAN
    Recommended name:
    ATP-binding cassette sub-family A member 2
    Protein Accession:
    Q9BZC7
    Secondary Accessions:
    • A6NED5
    • Q5SPY5
    • Q5W9G5
    • Q76MW7
    • Q9HC28

    Protein attributes for ABCA2 Gene

    Size:
    2435 amino acids
    Molecular mass:
    269873 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ABCA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCA2 Gene

Selected DME Specific Peptides for ABCA2 Gene

Q9BZC7:
  • LDEPTTG
  • NGAGKTT
  • LDEPTAG

Post-translational modifications for ABCA2 Gene

  • Ubiquitination at Lys1704
  • Glycosylation at posLast=1414, posLast=8989, Asn168, Asn173, Asn305, posLast=368368, Asn379, Asn420, Asn432, Asn476, posLast=484484, posLast=494494, posLast=530530, posLast=544544, Asn590, Asn600, posLast=628628, Asn1408, Asn1496, posLast=15491549, posLast=15571557, posLast=16121612, posLast=16771677, posLast=17751775, and Asn2054
  • Modification sites at PhosphoSitePlus

Domains & Families for ABCA2 Gene

Gene Families for ABCA2 Gene

Protein Domains for ABCA2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BZC7

UniProtKB/Swiss-Prot:

ABCA2_HUMAN :
  • Belongs to the ABC transporter superfamily. ABCA family.
Family:
  • Belongs to the ABC transporter superfamily. ABCA family.
genes like me logo Genes that share domains with ABCA2: view

Function for ABCA2 Gene

Molecular function for ABCA2 Gene

GENATLAS Biochemistry:
ATP binding cassette superfamily,subfamily A,member 2,mouse ABC2 homolog,widely expressed
UniProtKB/Swiss-Prot Function:
Probable transporter, its natural substrate has not been found yet. May have a role in macrophage lipid metabolism and neural development.

Enzyme Numbers (IUBMB) for ABCA2 Gene

Gene Ontology (GO) - Molecular Function for ABCA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding NAS 12363033
GO:0005215 transporter activity IEA --
GO:0005524 ATP binding ISS,IEA --
GO:0016887 ATPase activity IDA,IEA 15999530
GO:0042626 ATPase activity, coupled to transmembrane movement of substances NAS 7766993
genes like me logo Genes that share ontologies with ABCA2: view
genes like me logo Genes that share phenotypes with ABCA2: view

Animal Models for ABCA2 Gene

MGI Knock Outs for ABCA2:

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ABCA2 Gene

Localization for ABCA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCA2 Gene

Endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein. Note=Forms discrete, punctate intracellular vesicles.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABCA2 gene
Compartment Confidence
plasma membrane 5
lysosome 5
endosome 5
cytoskeleton 4

Gene Ontology (GO) - Cellular Components for ABCA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA,IDA 11309290
GO:0005765 lysosomal membrane NAS 11309290
GO:0005768 endosome IEA,IDA 11309290
GO:0005815 microtubule organizing center ISS --
GO:0010008 endosome membrane IEA --
genes like me logo Genes that share ontologies with ABCA2: view

Pathways & Interactions for ABCA2 Gene

genes like me logo Genes that share pathways with ABCA2: view

Pathways by source for ABCA2 Gene

Gene Ontology (GO) - Biological Process for ABCA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription from RNA polymerase II promoter IDA 15238223
GO:0006629 lipid metabolic process NAS 11178988
GO:0006810 transport NAS,IEA 7766993
GO:0032383 regulation of intracellular cholesterol transport IMP 15238223
GO:0042493 response to drug TAS 12363033
genes like me logo Genes that share ontologies with ABCA2: view

No data available for SIGNOR curated interactions for ABCA2 Gene

Drugs & Compounds for ABCA2 Gene

(5) Drugs for ABCA2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for ABCA2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ABCA2: view

Transcripts for ABCA2 Gene

Unigene Clusters for ABCA2 Gene

ATP-binding cassette, sub-family A (ABC1), member 2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABCA2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^
SP1:
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: -
SP15: -
SP16:
SP17:
SP18:
SP19:

ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28a · 28b ^ 29 ^ 30 ^ 31a · 31b · 31c ^ 32a · 32b ^ 33a · 33b · 33c ^ 34a · 34b ^ 35 ^ 36 ^ 37 ^ 38a · 38b ^
SP1: - -
SP2:
SP3: - -
SP4: - -
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:

ExUns: 39a · 39b · 39c ^ 40a · 40b ^ 41a · 41b ^ 42a · 42b · 42c ^ 43a · 43b ^ 44 ^ 45 ^ 46 ^ 47a · 47b ^ 48 ^ 49 ^ 50 ^ 51a · 51b · 51c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13: -
SP14:
SP15:
SP16: -
SP17:
SP18: - - -
SP19:

Relevant External Links for ABCA2 Gene

GeneLoc Exon Structure for
ABCA2
ECgene alternative splicing isoforms for
ABCA2

Expression for ABCA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ABCA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ABCA2 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x8.0) and Brain - Substantia nigra (x4.8).

Protein differential expression in normal tissues from HIPED for ABCA2 Gene

This gene is overexpressed in Frontal cortex (23.5), Spinal cord (19.8), and Testis (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABCA2 Gene



NURSA nuclear receptor signaling pathways regulating expression of ABCA2 Gene:

ABCA2

SOURCE GeneReport for Unigene cluster for ABCA2 Gene:

Hs.421202

mRNA Expression by UniProt/SwissProt for ABCA2 Gene:

Q9BZC7-ABCA2_HUMAN
Tissue specificity: Highly expressed in the brain, whereas lower levels of expression is observed in kidney and liver.

Evidence on tissue expression from TISSUES for ABCA2 Gene

  • Nervous system(5)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with ABCA2: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCA2 Gene

Orthologs for ABCA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ABCA2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ABCA2 34 35
  • 87.92 (n)
dog
(Canis familiaris)
Mammalia ABCA2 34 35
  • 87.88 (n)
rat
(Rattus norvegicus)
Mammalia Abca2 34
  • 86.81 (n)
mouse
(Mus musculus)
Mammalia Abca2 34 16 35
  • 86.62 (n)
oppossum
(Monodelphis domestica)
Mammalia ABCA2 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCA2 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABCA2 34 35
  • 78.48 (n)
lizard
(Anolis carolinensis)
Reptilia ABCA2 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abca2 34
  • 74.02 (n)
zebrafish
(Danio rerio)
Actinopterygii abca2 34 35
  • 71.8 (n)
fruit fly
(Drosophila melanogaster)
Insecta BG:DS00797.5 36
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 38 (a)
OneToOne
Species where no ortholog for ABCA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ABCA2 Gene

ENSEMBL:
Gene Tree for ABCA2 (if available)
TreeFam:
Gene Tree for ABCA2 (if available)

Paralogs for ABCA2 Gene

Variants for ABCA2 Gene

Sequence variations from dbSNP and Humsavar for ABCA2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000008365 -- 137,027,747(+) CCCTC(A/C/G)AGCCA intron-variant, utr-variant-5-prime
rs1000096093 -- 137,011,610(+) AGGCC(A/G)CTCCC intron-variant
rs1000251511 -- 137,010,461(+) TCCAG(A/T)GCCCA intron-variant
rs1000430739 -- 137,024,957(+) CCATG(C/G)CCAGC intron-variant
rs1000532332 -- 137,013,637(+) CCTTC(A/C)CCCAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ABCA2 Gene

Variant ID Type Subtype PubMed ID
dgv13007n54 CNV loss 21841781
esv2422220 CNV deletion 17116639
esv2660583 CNV deletion 23128226
nsv1075696 CNV deletion 25765185
nsv1075697 CNV deletion 25765185
nsv1077199 CNV deletion 25765185
nsv1077200 CNV deletion 25765185
nsv1113023 CNV deletion 24896259
nsv1119617 CNV deletion 24896259
nsv469918 CNV loss 18288195
nsv524322 CNV loss 19592680
nsv615991 CNV loss 21841781
nsv616004 CNV loss 21841781
nsv818738 CNV gain 17921354
nsv951206 CNV deletion 24416366

Variation tolerance for ABCA2 Gene

Residual Variation Intolerance Score: 4.13% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.49; 64.42% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABCA2 Gene

Human Gene Mutation Database (HGMD)
ABCA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCA2 Gene

Disorders for ABCA2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ABCA2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
acoustic neuroma
  • vestibular neurilemmoma
- elite association - COSMIC cancer census association via MalaCards
Search ABCA2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ABCA2

Genetic Association Database (GAD)
ABCA2
Human Genome Epidemiology (HuGE) Navigator
ABCA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABCA2
genes like me logo Genes that share disorders with ABCA2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ABCA2 Gene

Publications for ABCA2 Gene

  1. Ethnicity-dependent genetic association of ABCA2 with sporadic Alzheimer's disease. (PMID: 16752360) Wollmer M.A. … Papassotiropoulos A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2006) 3 22 46 64
  2. Cloning and characterization of human adenosine 5'-triphosphate- binding cassette, sub-family A, transporter 2. (PMID: 11309290) Vulevic B. … Tew K.D. (Cancer Res. 2001) 3 4 22 64
  3. Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk. (PMID: 20167577) Reynolds C.A. … Prince J.A. (Hum. Mol. Genet. 2010) 3 46 64
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  5. No association of DAPK1 and ABCA2 SNPs on chromosome 9 with Alzheimer's disease. (PMID: 18336955) Minster R.L. … Kamboh M.I. (Neurobiol. Aging 2009) 3 46 64

Products for ABCA2 Gene

Sources for ABCA2 Gene

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