ABCA2 | ENSG00000107331 | NCBI 20

Details for: ABCA2

Gene ID: 20

Symbol: ABCA2

Ensembl ID: ENSG00000107331

Description: ATP binding cassette subfamily A member 2

Associated with

Abc-family proteins mediated transport
(R-HSA-382556)
Abc transporters in lipid homeostasis
(R-HSA-1369062)
Transport of small molecules
(R-HSA-382551)
Abc-type transporter activity
(GO:0140359)
Atp-binding cassette (abc) transporter complex
(GO:0043190)
Atpase-coupled transmembrane transporter activity
(GO:0042626)
Atp binding
(GO:0005524)
Atp hydrolysis activity
(GO:0016887)
Central nervous system myelin formation
(GO:0032289)
Ceramide floppase activity
(GO:0099038)
Cholesterol homeostasis
(GO:0042632)
Cytoplasmic vesicle
(GO:0031410)
Endopeptidase regulator activity
(GO:0061135)
Endosome
(GO:0005768)
Endosome membrane
(GO:0010008)
Ganglioside metabolic process
(GO:0001573)
Glycosphingolipid metabolic process
(GO:0006687)
Intracellular membrane-bounded organelle
(GO:0043231)
Intracellular sphingolipid homeostasis
(GO:0090156)
Lipid metabolic process
(GO:0006629)
Lipid transport
(GO:0006869)
Lipid transporter activity
(GO:0005319)
Locomotory behavior
(GO:0007626)
Lysosomal membrane
(GO:0005765)
Lysosome
(GO:0005764)
Membrane
(GO:0016020)
Microtubule organizing center
(GO:0005815)
Negative regulation of cholesterol efflux
(GO:0090370)
Negative regulation of intracellular cholesterol transport
(GO:0032384)
Negative regulation of low-density lipoprotein receptor activity
(GO:1905598)
Negative regulation of receptor-mediated endocytosis involved in cholesterol transport
(GO:1905601)
Negative regulation of steroid metabolic process
(GO:0045939)
Nucleotide binding
(GO:0000166)
Plasma membrane
(GO:0005886)
Positive regulation of amyloid-beta formation
(GO:1902004)
Positive regulation of amyloid precursor protein biosynthetic process
(GO:0042986)
Positive regulation of amyloid precursor protein catabolic process
(GO:1902993)
Positive regulation of low-density lipoprotein particle receptor catabolic process
(GO:0032805)
Regulation of cholesterol biosynthetic process
(GO:0045540)
Regulation of intracellular cholesterol transport
(GO:0032383)
Regulation of post-translational protein modification
(GO:1901873)
Regulation of protein glycosylation
(GO:0060049)
Regulation of protein localization to cell periphery
(GO:1904375)
Regulation of protein localization to cell surface
(GO:2000008)
Regulation of steroid metabolic process
(GO:0019218)
Response to cholesterol
(GO:0070723)
Response to steroid hormone
(GO:0048545)
Response to xenobiotic stimulus
(GO:0009410)
Sphingomyelin metabolic process
(GO:0006684)
Sphingosine biosynthetic process
(GO:0046512)
Transmembrane transport
(GO:0055085)
Transport across blood-brain barrier
(GO:0150104)

Other Information

Proteins

ATP-binding cassette transporter 2

Genular Protein ID: 111809873

Symbol: ABCA2_HUMAN

Name: ATP-binding cassette transporter 2

UniProtKB Accession Codes:

Q9BZC7 A6NED5 Q5SPY5 Q5W9G5 Q76MW7 Q9HC28

Database IDs:

Citations:

PubMed ID: 11178988

Title: Complete coding sequence, promoter region, and genomic structure of the human ABCA2 gene and evidence for sterol-dependent regulation in macrophages.

PubMed ID: 11178988

DOI: 10.1006/bbrc.2001.4305

PubMed ID: 11309290

Title: Cloning and characterization of human adenosine 5'-triphosphate-binding cassette, sub-family A, transporter 2.

PubMed ID: 11309290

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 10470851

Title: Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

PubMed ID: 10470851

DOI: 10.1093/dnares/6.3.197

PubMed ID: 12168954

Title: Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.

PubMed ID: 12168954

DOI: 10.1093/dnares/9.3.99

PubMed ID: 15093135

Title: Identification of a novel first exon of the human ABCA2 transporter gene encoding a unique N-terminus.

PubMed ID: 15093135

DOI: 10.1016/j.bbaexp.2004.01.007

PubMed ID: 15238223

Title: Human ATP-binding cassette transporter-2 (ABCA2) positively regulates low-density lipoprotein receptor expression and negatively regulates cholesterol esterification in Chinese hamster ovary cells.

PubMed ID: 15238223

DOI: 10.1016/j.bbalip.2004.04.009

PubMed ID: 15999530

Title: Characterization of the ATPase activity of human ATP-binding cassette transporter-2 (ABCA2).

PubMed ID: 15999530

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 21810484

Title: The ATP-binding cassette transporter-2 (ABCA2) regulates cholesterol homeostasis and low-density lipoprotein receptor metabolism in N2a neuroblastoma cells.

PubMed ID: 21810484

DOI: 10.1016/j.bbalip.2011.07.010

PubMed ID: 22086926

Title: Down-regulation of the ATP-binding cassette transporter 2 (Abca2) reduces amyloid-beta production by altering Nicastrin maturation and intracellular localization.

PubMed ID: 22086926

DOI: 10.1074/jbc.m111.288258

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24201375

Title: The ATP-binding cassette transporter-2 (ABCA2) regulates esterification of plasma membrane cholesterol by modulation of sphingolipid metabolism.

PubMed ID: 24201375

DOI: 10.1016/j.bbalip.2013.10.019

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 26510981

Title: The ATP-Binding Cassette Transporter-2 (ABCA2) Overexpression Modulates Sphingosine Levels and Transcription of the Amyloid Precursor Protein (APP) Gene.

PubMed ID: 26510981

DOI: 10.2174/156720501209151019105834

PubMed ID: 26797129

Title: Substrate specificity of the HEMK2 protein glutamine methyltransferase and identification of novel substrates.

PubMed ID: 26797129

DOI: 10.1074/jbc.m115.711952

PubMed ID: 29302074

Title: Genetics of intellectual disability in consanguineous families.

PubMed ID: 29302074

DOI: 10.1038/s41380-017-0012-2

PubMed ID: 30237576

Title: Autozygome and high throughput confirmation of disease genes candidacy.

PubMed ID: 30237576

DOI: 10.1038/s41436-018-0138-x

Sequence Information:

Length: 2435
Mass: 269833
Checksum: D707CC83F30BE2BF
Sequence:

MGFLHQLQLL LWKNVTLKRR SPWVLAFEIF IPLVLFFILL GLRQKKPTIS VKEAFYTAAP 
LTSAGILPVM QSLCPDGQRD EFGFLQYANS TVTQLLERLD RVVEEGNLFD PARPSLGSEL 
EALRQHLEAL SAGPGTSGSH LDRSTVSSFS LDSVARNPQE LWRFLTQNLS LPNSTAQALL 
AARVDPPEVY HLLFGPSSAL DSQSGLHKGQ EPWSRLGGNP LFRMEELLLA PALLEQLTCT 
PGSGELGRIL TVPESQKGAL QGYRDAVCSG QAAARARRFS GLSAELRNQL DVAKVSQQLG 
LDAPNGSDSS PQAPPPRRLQ ALLGDLLDAQ KVLQDVDVLS ALALLLPQGA CTGRTPGPPA 
SGAGGAANGT GAGAVMGPNA TAEEGAPSAA ALATPDTLQG QCSAFVQLWA GLQPILCGNN 
RTIEPEALRR GNMSSLGFTS KEQRNLGLLV HLMTSNPKIL YAPAGSEVDR VILKANETFA 
FVGNVTHYAQ VWLNISAEIR SFLEQGRLQQ HLRWLQQYVA ELRLHPEALN LSLDELPPAL 
RQDNFSLPSG MALLQQLDTI DNAACGWIQF MSKVSVDIFK GFPDEESIVN YTLNQAYQDN 
VTVFASVIFQ TRKDGSLPPH VHYKIRQNSS FTEKTNEIRR AYWRPGPNTG GRFYFLYGFV 
WIQDMMERAI IDTFVGHDVV EPGSYVQMFP YPCYTRDDFL FVIEHMMPLC MVISWVYSVA 
MTIQHIVAEK EHRLKEVMKT MGLNNAVHWV AWFITGFVQL SISVTALTAI LKYGQVLMHS 
HVVIIWLFLA VYAVATIMFC FLVSVLYSKA KLASACGGII YFLSYVPYMY VAIREEVAHD 
KITAFEKCIA SLMSTTAFGL GSKYFALYEV AGVGIQWHTF SQSPVEGDDF NLLLAVTMLM 
VDAVVYGILT WYIEAVHPGM YGLPRPWYFP LQKSYWLGSG RTEAWEWSWP WARTPRLSVM 
EEDQACAMES RRFEETRGME EEPTHLPLVV CVDKLTKVYK DDKKLALNKL SLNLYENQVV 
SFLGHNGAGK TTTMSILTGL FPPTSGSATI YGHDIRTEMD EIRKNLGMCP QHNVLFDRLT 
VEEHLWFYSR LKSMAQEEIR REMDKMIEDL ELSNKRHSLV QTLSGGMKRK LSVAIAFVGG 
SRAIILDEPT AGVDPYARRA IWDLILKYKP GRTILLSTHH MDEADLLGDR IAIISHGKLK 
CCGSPLFLKG TYGDGYRLTL VKRPAEPGGP QEPGLASSPP GRAPLSSCSE LQVSQFIRKH 
VASCLLVSDT STELSYILPS EAAKKGAFER LFQHLERSLD ALHLSSFGLM DTTLEEVFLK 
VSEEDQSLEN SEADVKESRK DVLPGAEGPA SGEGHAGNLA RCSELTQSQA SLQSASSVGS 
ARGDEGAGYT DVYGDYRPLF DNPQDPDNVS LQEVEAEALS RVGQGSRKLD GGWLKVRQFH 
GLLVKRFHCA RRNSKALFSQ ILLPAFFVCV AMTVALSVPE IGDLPPLVLS PSQYHNYTQP 
RGNFIPYANE ERREYRLRLS PDASPQQLVS TFRLPSGVGA TCVLKSPANG SLGPTLNLSS 
GESRLLAARF FDSMCLESFT QGLPLSNFVP PPPSPAPSDS PASPDEDLQA WNVSLPPTAG 
PEMWTSAPSL PRLVREPVRC TCSAQGTGFS CPSSVGGHPP QMRVVTGDIL TDITGHNVSE 
YLLFTSDRFR LHRYGAITFG NVLKSIPASF GTRAPPMVRK IAVRRAAQVF YNNKGYHSMP 
TYLNSLNNAI LRANLPKSKG NPAAYGITVT NHPMNKTSAS LSLDYLLQGT DVVIAIFIIV 
AMSFVPASFV VFLVAEKSTK AKHLQFVSGC NPIIYWLANY VWDMLNYLVP ATCCVIILFV 
FDLPAYTSPT NFPAVLSLFL LYGWSITPIM YPASFWFEVP SSAYVFLIVI NLFIGITATV 
ATFLLQLFEH DKDLKVVNSY LKSCFLIFPN YNLGHGLMEM AYNEYINEYY AKIGQFDKMK 
SPFEWDIVTR GLVAMAVEGV VGFLLTIMCQ YNFLRRPQRM PVSTKPVEDD VDVASERQRV 
LRGDADNDMV KIENLTKVYK SRKIGRILAV DRLCLGVRPG ECFGLLGVNG AGKTSTFKML 
TGDESTTGGE AFVNGHSVLK ELLQVQQSLG YCPQCDALFD ELTAREHLQL YTRLRGISWK 
DEARVVKWAL EKLELTKYAD KPAGTYSGGN KRKLSTAIAL IGYPAFIFLD EPTTGMDPKA 
RRFLWNLILD LIKTGRSVVL TSHSMEECEA LCTRLAIMVN GRLRCLGSIQ HLKNRFGDGY 
MITVRTKSSQ SVKDVVRFFN RNFPEAMLKE RHHTKVQYQL KSEHISLAQV FSKMEQVSGV 
LGIEDYSVSQ TTLDNVFVNF AKKQSDNLEQ QETEPPSALQ SPLGCLLSLL RPRSAPTELR 
ALVADEPEDL DTEDEGLISF EEERAQLSFN TDTLC

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: ABCA2

Associated with

Other Information

Complete coding sequence, promoter region, and genomic structure of the human ABCA2 gene and evidence for sterol-dependent regulation in macrophages. PubMed ID: 11178988

Cloning and characterization of human adenosine 5'-triphosphate-binding cassette, sub-family A, transporter 2. PubMed ID: 11309290

DNA sequence and analysis of human chromosome 9. PubMed ID: 15164053

Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. PubMed ID: 10470851

Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. PubMed ID: 12168954

Identification of a novel first exon of the human ABCA2 transporter gene encoding a unique N-terminus. PubMed ID: 15093135

Human ATP-binding cassette transporter-2 (ABCA2) positively regulates low-density lipoprotein receptor expression and negatively regulates cholesterol esterification in Chinese hamster ovary cells. PubMed ID: 15238223

Characterization of the ATPase activity of human ATP-binding cassette transporter-2 (ABCA2). PubMed ID: 15999530

Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. PubMed ID: 17081983

A quantitative atlas of mitotic phosphorylation. PubMed ID: 18669648

The ATP-binding cassette transporter-2 (ABCA2) regulates cholesterol homeostasis and low-density lipoprotein receptor metabolism in N2a neuroblastoma cells. PubMed ID: 21810484

Down-regulation of the ATP-binding cassette transporter 2 (Abca2) reduces amyloid-beta production by altering Nicastrin maturation and intracellular localization. PubMed ID: 22086926

Toward a comprehensive characterization of a human cancer cell phosphoproteome. PubMed ID: 23186163

The ATP-binding cassette transporter-2 (ABCA2) regulates esterification of plasma membrane cholesterol by modulation of sphingolipid metabolism. PubMed ID: 24201375

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. PubMed ID: 24275569

The ATP-Binding Cassette Transporter-2 (ABCA2) Overexpression Modulates Sphingosine Levels and Transcription of the Amyloid Precursor Protein (APP) Gene. PubMed ID: 26510981

Substrate specificity of the HEMK2 protein glutamine methyltransferase and identification of novel substrates. PubMed ID: 26797129

Genetics of intellectual disability in consanguineous families. PubMed ID: 29302074

Autozygome and high throughput confirmation of disease genes candidacy. PubMed ID: 30237576