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Q9BZC7 (ABCA2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 114. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
ATP-binding cassette sub-family A member 2
Alternative name(s):
ATP-binding cassette transporter 2
Short name=ATP-binding cassette 2
Gene names
Name:ABCA2
Synonyms:ABC2, KIAA1062
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2435 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein. Note: Forms discrete, punctate intracellular vesicles. Ref.2

Tissue specificity

Highly expressed in the brain, whereas lower levels of expression is observed in kidney and liver. Ref.2

Sequence similarities

Belongs to the ABC transporter superfamily. ABCA family.

Contains 2 ABC transporter domains.

Ontologies

Keywords
   Biological processTransport
   Cellular componentEndosome
Lysosome
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
Transmembrane
Transmembrane helix
   LigandATP-binding
Nucleotide-binding
   PTMGlycoprotein
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processATP catabolic process

Inferred from direct assay PubMed 15999530. Source: GOC

cholesterol homeostasis

Inferred from expression pattern PubMed 15238223. Source: UniProtKB

lipid metabolic process

Non-traceable author statement Ref.1. Source: UniProtKB

regulation of intracellular cholesterol transport

Inferred from mutant phenotype PubMed 15238223. Source: UniProtKB

regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 15238223. Source: UniProtKB

response to drug

Traceable author statement PubMed 12363033. Source: UniProtKB

response to steroid hormone

Inferred from expression pattern PubMed 15238223. Source: UniProtKB

transmembrane transport

Non-traceable author statement PubMed 7766993. Source: GOC

transport

Non-traceable author statement Ref.1PubMed 7766993. Source: UniProtKB

   Cellular_componentATP-binding cassette (ABC) transporter complex

Non-traceable author statement Ref.1. Source: UniProtKB

cytoplasmic membrane-bounded vesicle

Inferred from sequence or structural similarity. Source: UniProtKB

endosome

Inferred from direct assay Ref.2. Source: UniProtKB

endosome membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

integral component of membrane

Inferred from direct assay PubMed 15999530. Source: UniProtKB

lysosomal membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

lysosome

Inferred from direct assay Ref.2. Source: UniProtKB

microtubule organizing center

Inferred from sequence or structural similarity. Source: UniProtKB

   Molecular_functionATP binding

Inferred from direct assay PubMed 15999530. Source: UniProtKB

ATPase activity

Inferred from direct assay PubMed 15999530. Source: UniProtKB

ATPase activity, coupled to transmembrane movement of substances

Non-traceable author statement PubMed 7766993. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9BZC7-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9BZC7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     2059-2090: YKSRKIGRILAVDRLCLGVRPGECFGLLGVNG → GSGHVGWGLGGVGQGQGGGAPAVEVEPGWAGP
     2091-2435: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q9BZC7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     53-54: EA → EVS

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 24352435ATP-binding cassette sub-family A member 2
PRO_0000093290

Regions

Transmembrane22 – 4221Helical; Potential
Transmembrane54 – 7421Helical; Potential
Transmembrane699 – 71921Helical; Potential
Transmembrane750 – 77021Helical; Potential
Transmembrane782 – 80221Helical; Potential
Transmembrane813 – 83321Helical; Potential
Transmembrane857 – 87721Helical; Potential
Transmembrane893 – 91321Helical; Potential
Transmembrane1456 – 147621Helical; Potential
Transmembrane1792 – 181221Helical; Potential
Transmembrane1841 – 186121Helical; Potential
Transmembrane1872 – 189221Helical; Potential
Transmembrane1905 – 192521Helical; Potential
Transmembrane1991 – 201121Helical; Potential
Domain990 – 1221232ABC transporter 1
Domain2050 – 2285236ABC transporter 2
Nucleotide binding1024 – 10318ATP 1 Potential
Nucleotide binding2087 – 20948ATP 2 Potential

Amino acid modifications

Modified residue13271Phosphoserine Ref.6
Modified residue13311Phosphoserine Ref.6
Modified residue24121Phosphothreonine Ref.7
Glycosylation141N-linked (GlcNAc...) Potential
Glycosylation891N-linked (GlcNAc...) Potential
Glycosylation1681N-linked (GlcNAc...) Potential
Glycosylation1731N-linked (GlcNAc...) Potential
Glycosylation3051N-linked (GlcNAc...) Potential
Glycosylation3681N-linked (GlcNAc...) Potential
Glycosylation3791N-linked (GlcNAc...) Potential
Glycosylation4201N-linked (GlcNAc...) Potential
Glycosylation4321N-linked (GlcNAc...) Potential
Glycosylation4761N-linked (GlcNAc...) Potential
Glycosylation4841N-linked (GlcNAc...) Potential
Glycosylation4941N-linked (GlcNAc...) Potential
Glycosylation5301N-linked (GlcNAc...) Potential
Glycosylation5441N-linked (GlcNAc...) Potential
Glycosylation5901N-linked (GlcNAc...) Potential
Glycosylation6001N-linked (GlcNAc...) Potential
Glycosylation6281N-linked (GlcNAc...) Potential
Glycosylation14081N-linked (GlcNAc...) Potential
Glycosylation14961N-linked (GlcNAc...) Potential
Glycosylation15491N-linked (GlcNAc...) Potential
Glycosylation15571N-linked (GlcNAc...) Potential
Glycosylation16121N-linked (GlcNAc...) Potential
Glycosylation16771N-linked (GlcNAc...) Potential
Glycosylation17751N-linked (GlcNAc...) Potential
Glycosylation20541N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence53 – 542EA → EVS in isoform 3.
VSP_040937
Alternative sequence2059 – 209032YKSRK…LGVNG → GSGHVGWGLGGVGQGQGGGA PAVEVEPGWAGP in isoform 2.
VSP_035283
Alternative sequence2091 – 2435345Missing in isoform 2.
VSP_035284
Natural variant5831H → P. Ref.1 Ref.2
Corresponds to variant rs908828 [ dbSNP | Ensembl ].
VAR_044526
Natural variant6741F → V.
Corresponds to variant rs2090625 [ dbSNP | Ensembl ].
VAR_044527

Experimental info

Sequence conflict20791P → L in AAK14335. Ref.1
Isoform 3:
Sequence conflict551S → P in AAK14334. Ref.1
Sequence conflict551S → P in AAK14335. Ref.1
Sequence conflict551S → P in AAG09372. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified September 23, 2008. Version 3.
Checksum: 0C4ABE9087BEC5C4

FASTA2,435269,873
        10         20         30         40         50         60 
MGFLHQLQLL LWKNVTLKRR SPWVLAFEIF IPLVLFFILL GLRQKKPTIS VKEAFYTAAP 

        70         80         90        100        110        120 
LTSAGILPVM QSLCPDGQRD EFGFLQYANS TVTQLLERLD RVVEEGNLFD PARPSLGSEL 

       130        140        150        160        170        180 
EALRQHLEAL SAGPGTSGSH LDRSTVSSFS LDSVARNPQE LWRFLTQNLS LPNSTAQALL 

       190        200        210        220        230        240 
AARVDPPEVY HLLFGPSSAL DSQSGLHKGQ EPWSRLGGNP LFRMEELLLA PALLEQLTCT 

       250        260        270        280        290        300 
PGSGELGRIL TVPESQKGAL QGYRDAVCSG QAAARARRFS GLSAELRNQL DVAKVSQQLG 

       310        320        330        340        350        360 
LDAPNGSDSS PQAPPPRRLQ ALLGDLLDAQ KVLQDVDVLS ALALLLPQGA CTGRTPGPPA 

       370        380        390        400        410        420 
SGAGGAANGT GAGAVMGPNA TAEEGAPSAA ALATPDTLQG QCSAFVQLWA GLQPILCGNN 

       430        440        450        460        470        480 
RTIEPEALRR GNMSSLGFTS KEQRNLGLLV HLMTSNPKIL YAPAGSEVDR VILKANETFA 

       490        500        510        520        530        540 
FVGNVTHYAQ VWLNISAEIR SFLEQGRLQQ HLRWLQQYVA ELRLHPEALN LSLDELPPAL 

       550        560        570        580        590        600 
RQDNFSLPSG MALLQQLDTI DNAACGWIQF MSKVSVDIFK GFHDEESIVN YTLNQAYQDN 

       610        620        630        640        650        660 
VTVFASVIFQ TRKDGSLPPH VHYKIRQNSS FTEKTNEIRR AYWRPGPNTG GRFYFLYGFV 

       670        680        690        700        710        720 
WIQDMMERAI IDTFVGHDVV EPGSYVQMFP YPCYTRDDFL FVIEHMMPLC MVISWVYSVA 

       730        740        750        760        770        780 
MTIQHIVAEK EHRLKEVMKT MGLNNAVHWV AWFITGFVQL SISVTALTAI LKYGQVLMHS 

       790        800        810        820        830        840 
HVVIIWLFLA VYAVATIMFC FLVSVLYSKA KLASACGGII YFLSYVPYMY VAIREEVAHD 

       850        860        870        880        890        900 
KITAFEKCIA SLMSTTAFGL GSKYFALYEV AGVGIQWHTF SQSPVEGDDF NLLLAVTMLM 

       910        920        930        940        950        960 
VDAVVYGILT WYIEAVHPGM YGLPRPWYFP LQKSYWLGSG RTEAWEWSWP WARTPRLSVM 

       970        980        990       1000       1010       1020 
EEDQACAMES RRFEETRGME EEPTHLPLVV CVDKLTKVYK DDKKLALNKL SLNLYENQVV 

      1030       1040       1050       1060       1070       1080 
SFLGHNGAGK TTTMSILTGL FPPTSGSATI YGHDIRTEMD EIRKNLGMCP QHNVLFDRLT 

      1090       1100       1110       1120       1130       1140 
VEEHLWFYSR LKSMAQEEIR REMDKMIEDL ELSNKRHSLV QTLSGGMKRK LSVAIAFVGG 

      1150       1160       1170       1180       1190       1200 
SRAIILDEPT AGVDPYARRA IWDLILKYKP GRTILLSTHH MDEADLLGDR IAIISHGKLK 

      1210       1220       1230       1240       1250       1260 
CCGSPLFLKG TYGDGYRLTL VKRPAEPGGP QEPGLASSPP GRAPLSSCSE LQVSQFIRKH 

      1270       1280       1290       1300       1310       1320 
VASCLLVSDT STELSYILPS EAAKKGAFER LFQHLERSLD ALHLSSFGLM DTTLEEVFLK 

      1330       1340       1350       1360       1370       1380 
VSEEDQSLEN SEADVKESRK DVLPGAEGPA SGEGHAGNLA RCSELTQSQA SLQSASSVGS 

      1390       1400       1410       1420       1430       1440 
ARGDEGAGYT DVYGDYRPLF DNPQDPDNVS LQEVEAEALS RVGQGSRKLD GGWLKVRQFH 

      1450       1460       1470       1480       1490       1500 
GLLVKRFHCA RRNSKALFSQ ILLPAFFVCV AMTVALSVPE IGDLPPLVLS PSQYHNYTQP 

      1510       1520       1530       1540       1550       1560 
RGNFIPYANE ERREYRLRLS PDASPQQLVS TFRLPSGVGA TCVLKSPANG SLGPTLNLSS 

      1570       1580       1590       1600       1610       1620 
GESRLLAARF FDSMCLESFT QGLPLSNFVP PPPSPAPSDS PASPDEDLQA WNVSLPPTAG 

      1630       1640       1650       1660       1670       1680 
PEMWTSAPSL PRLVREPVRC TCSAQGTGFS CPSSVGGHPP QMRVVTGDIL TDITGHNVSE 

      1690       1700       1710       1720       1730       1740 
YLLFTSDRFR LHRYGAITFG NVLKSIPASF GTRAPPMVRK IAVRRAAQVF YNNKGYHSMP 

      1750       1760       1770       1780       1790       1800 
TYLNSLNNAI LRANLPKSKG NPAAYGITVT NHPMNKTSAS LSLDYLLQGT DVVIAIFIIV 

      1810       1820       1830       1840       1850       1860 
AMSFVPASFV VFLVAEKSTK AKHLQFVSGC NPIIYWLANY VWDMLNYLVP ATCCVIILFV 

      1870       1880       1890       1900       1910       1920 
FDLPAYTSPT NFPAVLSLFL LYGWSITPIM YPASFWFEVP SSAYVFLIVI NLFIGITATV 

      1930       1940       1950       1960       1970       1980 
ATFLLQLFEH DKDLKVVNSY LKSCFLIFPN YNLGHGLMEM AYNEYINEYY AKIGQFDKMK 

      1990       2000       2010       2020       2030       2040 
SPFEWDIVTR GLVAMAVEGV VGFLLTIMCQ YNFLRRPQRM PVSTKPVEDD VDVASERQRV 

      2050       2060       2070       2080       2090       2100 
LRGDADNDMV KIENLTKVYK SRKIGRILAV DRLCLGVRPG ECFGLLGVNG AGKTSTFKML 

      2110       2120       2130       2140       2150       2160 
TGDESTTGGE AFVNGHSVLK ELLQVQQSLG YCPQCDALFD ELTAREHLQL YTRLRGISWK 

      2170       2180       2190       2200       2210       2220 
DEARVVKWAL EKLELTKYAD KPAGTYSGGN KRKLSTAIAL IGYPAFIFLD EPTTGMDPKA 

      2230       2240       2250       2260       2270       2280 
RRFLWNLILD LIKTGRSVVL TSHSMEECEA LCTRLAIMVN GRLRCLGSIQ HLKNRFGDGY 

      2290       2300       2310       2320       2330       2340 
MITVRTKSSQ SVKDVVRFFN RNFPEAMLKE RHHTKVQYQL KSEHISLAQV FSKMEQVSGV 

      2350       2360       2370       2380       2390       2400 
LGIEDYSVSQ TTLDNVFVNF AKKQSDNLEQ QETEPPSALQ SPLGCLLSLL RPRSAPTELR 

      2410       2420       2430 
ALVADEPEDL DTEDEGLISF EEERAQLSFN TDTLC 

« Hide

Isoform 2 [UniParc].

Checksum: 0E8343980AF61548
Show »

FASTA2,090230,564
Isoform 3 [UniParc].

Checksum: AF887122E85CA013
Show »

FASTA2,436269,988

References

« Hide 'large scale' references
[1]"Complete coding sequence, promoter region, and genomic structure of the human ABCA2 gene and evidence for sterol-dependent regulation in macrophages."
Kaminski W.E., Piehler A., Pullmann K., Porsch-Oezcueruemez M., Duong C., Bared G.M., Buchler C., Schmitz G.
Biochem. Biophys. Res. Commun. 281:249-258(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 3), VARIANT PRO-583.
[2]"Cloning and characterization of human adenosine 5'-triphosphate-binding cassette, sub-family A, transporter 2."
Vulevic B., Chen Z., Boyd J.T., Davis W. Jr., Walsh E.S., Belinsky M.G., Tew K.D.
Cancer Res. 61:3339-3347(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), TISSUE SPECIFICITY, SUBCELLULAR LOCATION, VARIANT PRO-583.
Tissue: Brain.
[3]"DNA sequence and analysis of human chromosome 9."
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. expand/collapse author list , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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."
Kikuno R., Nagase T., Ishikawa K., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
DNA Res. 6:197-205(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 651-2435 (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 665-2435 (ISOFORM 1).
Tissue: Brain.
[5]"Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: SEQUENCE REVISION.
[6]"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1327 AND SER-1331, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[7]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-2412, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
+Additional computationally mapped references.

Web resources

ABCMdb

Database for mutations in ABC proteins

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF327657 mRNA. Translation: AAK14334.1.
AF327705 expand/collapse EMBL AC list , AF327658, AF327659, AF327660, AF327661, AF327662, AF327663, AF327664, AF327665, AF327666, AF327667, AF327668, AF327669, AF327670, AF327671, AF327672, AF327673, AF327674, AF327675, AF327676, AF327677, AF327678, AF327679, AF327680, AF327681, AF327682, AF327683, AF327684, AF327685, AF327686, AF327687, AF327688, AF327689, AF327690, AF327691, AF327692, AF327693, AF327694, AF327695, AF327696, AF327697, AF327698, AF327699, AF327700, AF327701, AF327702, AF327703, AF327704 Genomic DNA. Translation: AAK14335.1.
AF178941 mRNA. Translation: AAG09372.1.
AL807752 Genomic DNA. Translation: CAI12768.1.
AB028985 mRNA. Translation: BAA83014.2.
AB177854 mRNA. Translation: BAD66832.1.
PIRA59189.
RefSeqNP_001597.2. NM_001606.4.
NP_997698.1. NM_212533.2.
UniGeneHs.421202.

3D structure databases

ProteinModelPortalQ9BZC7.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid106538. 3 interactions.
IntActQ9BZC7. 3 interactions.
STRING9606.ENSP00000344155.

Protein family/group databases

TCDB3.A.1.211.3. the atp-binding cassette (abc) superfamily.

PTM databases

PhosphoSiteQ9BZC7.

Polymorphism databases

DMDM206729923.

Proteomic databases

PaxDbQ9BZC7.
PRIDEQ9BZC7.

Protocols and materials databases

DNASU20.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000341511; ENSP00000344155; ENSG00000107331. [Q9BZC7-3]
ENST00000371605; ENSP00000360666; ENSG00000107331. [Q9BZC7-1]
GeneID20.
KEGGhsa:20.
UCSCuc004ckl.1. human. [Q9BZC7-1]
uc004ckm.1. human. [Q9BZC7-3]

Organism-specific databases

CTD20.
GeneCardsGC09M139901.
HGNCHGNC:32. ABCA2.
HPAHPA042886.
MIM600047. gene.
neXtProtNX_Q9BZC7.
PharmGKBPA24377.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1131.
HOGENOMHOG000231547.
HOVERGENHBG050436.
KOK05642.
OMAGYPAFIF.
OrthoDBEOG78D7J6.
PhylomeDBQ9BZC7.
TreeFamTF105191.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ9BZC7.
BgeeQ9BZC7.
CleanExHS_ABCA2.
GenevestigatorQ9BZC7.

Family and domain databases

Gene3D3.40.50.300. 2 hits.
InterProIPR003593. AAA+_ATPase.
IPR026082. ABC_A.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERPTHR19229. PTHR19229. 1 hit.
PfamPF00005. ABC_tran. 2 hits.
[Graphical view]
SMARTSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMSSF52540. SSF52540. 2 hits.
PROSITEPS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSABCA2. human.
GeneWikiABCA2.
GenomeRNAi20.
NextBio55.
PROQ9BZC7.
SOURCESearch...

Entry information

Entry nameABCA2_HUMAN
AccessionPrimary (citable) accession number: Q9BZC7
Secondary accession number(s): A6NED5 expand/collapse secondary AC list , Q5SPY5, Q5W9G5, Q76MW7, Q9HC28
Entry history
Integrated into UniProtKB/Swiss-Prot: July 11, 2001
Last sequence update: September 23, 2008
Last modified: April 16, 2014
This is version 114 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM