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Aliases for ABCA2 Gene

Aliases for ABCA2 Gene

  • ATP-Binding Cassette, Sub-Family A (ABC1), Member 2 2 3
  • ABC2 3 4 6
  • ATP-Binding Cassette Transporter 2 3 4
  • ATP-Binding Cassette 2 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 63
  • KIAA1062 4
  • EC 3.6.3 63

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, Sub-Family A (ABC1), Member 2) is a Protein Coding gene. Diseases associated with ABCA2 include developmental coordination disorder and neuroma. Among its related pathways are Lysosome and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. 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 ABCA4.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCA2 Gene

Genomics for ABCA2 Gene

Regulatory Elements for ABCA2 Gene

Genomic Location for ABCA2 Gene

Start:
137,007,227 bp from pter
End:
137,028,922 bp from pter
Size:
21,696 bases
Orientation:
Minus strand

Genomic View for ABCA2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for ABCA2 Gene at MOPED

Selected DME Specific Peptides for ABCA2 Gene

Post-translational modifications for ABCA2 Gene

  • Ubiquitination at Lys1704
  • Glycosylation at Asn14, Asn89, Asn168, Asn173, Asn305, Asn368, Asn379, Asn420, Asn432, Asn476, Asn484, Asn494, Asn530, Asn544, Asn590, Asn600, Asn628, Asn1408, Asn1496, Asn1549, Asn1557, Asn1612, Asn1677, Asn1775, and Asn2054
  • Modification sites at PhosphoSitePlus

Domains for ABCA2 Gene

Gene Families for ABCA2 Gene

HGNC:
  • ABCA :ATP binding cassette transporters / subfamily A
IUPHAR :

Protein Domains for ABCA2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BZC7

UniProtKB/Swiss-Prot:

ABCA2_HUMAN :
  • Q9BZC7
Domain:
  • Contains 2 ABC transporter domains.
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:0005524 ATP binding ISS --
GO:0016887 ATPase activity IDA 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:

No data available for miRNA , Transcription Factor Targeting 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
Jensen Localization Image for ABCA2 Gene COMPARTMENTS Subcellular localization image for ABCA2 gene
Compartment Confidence
endosome 5
lysosome 5
vacuole 5
cytoskeleton 4
plasma membrane 3
nucleus 1

Gene Ontology (GO) - Cellular Components for ABCA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IDA 11309290
GO:0005765 lysosomal membrane NAS 11309290
GO:0005768 endosome 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 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:0006200 obsolete ATP catabolic process --
GO:0006357 regulation of transcription from RNA polymerase II promoter IDA 15238223
GO:0006629 lipid metabolic process NAS 11178988
GO:0006810 transport NAS 11178988
GO:0032383 regulation of intracellular cholesterol transport IMP 15238223
genes like me logo Genes that share ontologies with ABCA2: view

Compounds for ABCA2 Gene

(9) Novoseek inferred chemical compound relationships for ABCA2 Gene

Compound -log(P) Hits PubMed IDs
abc2 98 17
estramustine 86.6 8
8-azido-atp 80.2 1
aaph 67.2 2
mitoxantrone 66.8 4
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:

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 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) (8.0) and Brain - Substantia nigra (4.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ABCA2 Gene

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.
genes like me logo Genes that share expressions with ABCA2: view

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 35
  • 87.92 (n)
  • 91.81 (a)
ABCA2 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCA2 35
  • 87.88 (n)
  • 92.44 (a)
ABCA2 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abca2 35
  • 86.62 (n)
  • 93.46 (a)
Abca2 16
Abca2 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABCA2 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCA2 36
  • 62 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abca2 35
  • 86.81 (n)
  • 92.97 (a)
chicken
(Gallus gallus)
Aves ABCA2 35
  • 78.48 (n)
  • 82.36 (a)
ABCA2 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABCA2 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abca2 35
  • 74.02 (n)
  • 79.33 (a)
zebrafish
(Danio rerio)
Actinopterygii abca2 35
  • 71.8 (n)
  • 79.24 (a)
abca2 36
  • 76 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta BG:DS00797.5 37
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
OneToOne
Species with no ortholog for ABCA2:
  • 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

Paralogs for ABCA2 Gene

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

Variants for ABCA2 Gene

Sequence variations from dbSNP and Humsavar for ABCA2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs875285 -- 137,018,701(-) ccccg(C/T)cccgc intron-variant
rs879854 -- 137,017,726(+) GCCCC(A/G)GGGAG intron-variant
rs884750 -- 137,020,989(-) CGCTT(C/T)TGGGG reference, synonymous-codon
rs908828 - 137,018,787(-) CTTCC(A/C)CGACG missense, reference
rs908832 -- 137,018,032(+) ACCAC(A/C/G)TCGTG synonymous-codon, missense, reference

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

Variant ID Type Subtype PubMed ID
nsv469918 CNV Loss 18288195
nsv894387 CNV Gain 21882294
esv2422220 CNV Deletion 17116639
dgv8412n71 CNV Loss 21882294
dgv8415n71 CNV Loss 21882294
dgv8416n71 CNV Loss 21882294
nsv818738 CNV Gain 17921354
nsv524322 CNV Loss 19592680
nsv894469 CNV Loss 21882294
nsv894483 CNV Loss 21882294
dgv8423n71 CNV Loss 21882294
nsv894500 CNV Loss 21882294
nsv894502 CNV Loss 21882294
nsv894503 CNV Loss 21882294
nsv894506 CNV Gain 21882294
dgv8425n71 CNV Loss 21882294
nsv894513 CNV Loss 21882294
nsv894514 CNV Loss 21882294
dgv8428n71 CNV Loss 21882294
nsv894521 CNV Loss 21882294
dgv8433n71 CNV Gain 21882294
nsv894550 CNV Gain 21882294
dgv8437n71 CNV Gain 21882294
dgv8438n71 CNV Loss 21882294
esv2660583 CNV Deletion 23128226
dgv8439n71 CNV Loss 21882294
nsv894565 CNV Loss 21882294
dgv8440n71 CNV Loss 21882294
nsv894567 CNV Loss 21882294

Relevant External Links for ABCA2 Gene

HapMap Linkage Disequilibrium report
ABCA2
Human Gene Mutation Database (HGMD)
ABCA2

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

Disorders for ABCA2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for ABCA2 Gene including...

Search for ABCA2 Gene in MalaCards »

(1) University of Copenhagen DISEASES for ABCA2 Gene

(6) Novoseek inferred disease relationships for ABCA2 Gene

Disease -log(P) Hits PubMed IDs
ovarian carcinoma 49.8 3
neuroma acoustic 49.7 3
senile plaques 43.3 2
atherosclerosis 11.1 2
alzheimers disease 9.48 3

Relevant External Links for ABCA2

Genetic Association Database (GAD)
ABCA2
Human Genome Epidemiology (HuGE) Navigator
ABCA2
genes like me logo Genes that share disorders with ABCA2: view

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

Publications for ABCA2 Gene

  1. 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 23
  2. 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 23 48
  3. Human ATP-binding cassette transporter-2 (ABCA2) positively regulates low-density lipoprotein receptor expression and negatively regulates cholesterol esterification in Chinese hamster ovary cells. (PMID: 15238223) Davis W. … Tew K.D. (Biochim. Biophys. Acta 2004) 3 23
  4. Expression of ABCA2 protein in human vestibular schwannoma and peripheral nerve. (PMID: 15850583) Wang Y. … Inagaki N. (J. Neurol. Sci. 2005) 3 23
  5. Characterization of the ATPase activity of human ATP-binding cassette transporter-2 (ABCA2). (PMID: 15999530) Beljanski V. … Tew K.D. (In Vivo 2005) 3 23

Products for ABCA2 Gene

Sources for ABCA2 Gene

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