KEGG   Homo sapiens (human): 20
Entry
20                CDS       T01001                                 
Symbol
ABCA2, ABC2, IDPOGSA
Name
(RefSeq) ATP binding cassette subfamily A member 2
  KO
K05642  ATP-binding cassette, subfamily A (ABC1), member 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa02010  ABC transporters
hsa04142  Lysosome
Disease
H02463  Syndromic intellectual developmental disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09131 Membrane transport
   02010 ABC transporters
    20 (ABCA2)
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome
    20 (ABCA2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    20 (ABCA2)
Transporters [BR:hsa02000]
 ABC transporters, eukaryotic type
  ABCA (ABC1) subfamily
   ABCA1, 2, 3, 4, 7, 12, 13 subgroups
    20 (ABCA2)
SSDB
Motif
Pfam: ABC_tran ABC2_membrane_3 AAA_21
Other DBs
NCBI-GeneID: 20
NCBI-ProteinID: NP_001597
OMIM: 600047
HGNC: 32
Ensembl: ENSG00000107331
UniProt: Q9BZC7
Position
9:complement(137007234..137028922)
AA seq 2436 aa
MGFLHQLQLLLWKNVTLKRRSPWVLAFEIFIPLVLFFILLGLRQKKPTISVKEVSFYTAA
PLTSAGILPVMQSLCPDGQRDEFGFLQYANSTVTQLLERLDRVVEEGNLFDPARPSLGSE
LEALRQHLEALSAGPGTSGSHLDRSTVSSFSLDSVARNPQELWRFLTQNLSLPNSTAQAL
LAARVDPPEVYHLLFGPSSALDSQSGLHKGQEPWSRLGGNPLFRMEELLLAPALLEQLTC
TPGSGELGRILTVPESQKGALQGYRDAVCSGQAAARARRFSGLSAELRNQLDVAKVSQQL
GLDAPNGSDSSPQAPPPRRLQALLGDLLDAQKVLQDVDVLSALALLLPQGACTGRTPGPP
ASGAGGAANGTGAGAVMGPNATAEEGAPSAAALATPDTLQGQCSAFVQLWAGLQPILCGN
NRTIEPEALRRGNMSSLGFTSKEQRNLGLLVHLMTSNPKILYAPAGSEVDRVILKANETF
AFVGNVTHYAQVWLNISAEIRSFLEQGRLQQHLRWLQQYVAELRLHPEALNLSLDELPPA
LRQDNFSLPSGMALLQQLDTIDNAACGWIQFMSKVSVDIFKGFPDEESIVNYTLNQAYQD
NVTVFASVIFQTRKDGSLPPHVHYKIRQNSSFTEKTNEIRRAYWRPGPNTGGRFYFLYGF
VWIQDMMERAIIDTFVGHDVVEPGSYVQMFPYPCYTRDDFLFVIEHMMPLCMVISWVYSV
AMTIQHIVAEKEHRLKEVMKTMGLNNAVHWVAWFITGFVQLSISVTALTAILKYGQVLMH
SHVVIIWLFLAVYAVATIMFCFLVSVLYSKAKLASACGGIIYFLSYVPYMYVAIREEVAH
DKITAFEKCIASLMSTTAFGLGSKYFALYEVAGVGIQWHTFSQSPVEGDDFNLLLAVTML
MVDAVVYGILTWYIEAVHPGMYGLPRPWYFPLQKSYWLGSGRTEAWEWSWPWARTPRLSV
MEEDQACAMESRRFEETRGMEEEPTHLPLVVCVDKLTKVYKDDKKLALNKLSLNLYENQV
VSFLGHNGAGKTTTMSILTGLFPPTSGSATIYGHDIRTEMDEIRKNLGMCPQHNVLFDRL
TVEEHLWFYSRLKSMAQEEIRREMDKMIEDLELSNKRHSLVQTLSGGMKRKLSVAIAFVG
GSRAIILDEPTAGVDPYARRAIWDLILKYKPGRTILLSTHHMDEADLLGDRIAIISHGKL
KCCGSPLFLKGTYGDGYRLTLVKRPAEPGGPQEPGLASSPPGRAPLSSCSELQVSQFIRK
HVASCLLVSDTSTELSYILPSEAAKKGAFERLFQHLERSLDALHLSSFGLMDTTLEEVFL
KVSEEDQSLENSEADVKESRKDVLPGAEGPASGEGHAGNLARCSELTQSQASLQSASSVG
SARGDEGAGYTDVYGDYRPLFDNPQDPDNVSLQEVEAEALSRVGQGSRKLDGGWLKVRQF
HGLLVKRFHCARRNSKALFSQILLPAFFVCVAMTVALSVPEIGDLPPLVLSPSQYHNYTQ
PRGNFIPYANEERREYRLRLSPDASPQQLVSTFRLPSGVGATCVLKSPANGSLGPTLNLS
SGESRLLAARFFDSMCLESFTQGLPLSNFVPPPPSPAPSDSPASPDEDLQAWNVSLPPTA
GPEMWTSAPSLPRLVREPVRCTCSAQGTGFSCPSSVGGHPPQMRVVTGDILTDITGHNVS
EYLLFTSDRFRLHRYGAITFGNVLKSIPASFGTRAPPMVRKIAVRRAAQVFYNNKGYHSM
PTYLNSLNNAILRANLPKSKGNPAAYGITVTNHPMNKTSASLSLDYLLQGTDVVIAIFII
VAMSFVPASFVVFLVAEKSTKAKHLQFVSGCNPIIYWLANYVWDMLNYLVPATCCVIILF
VFDLPAYTSPTNFPAVLSLFLLYGWSITPIMYPASFWFEVPSSAYVFLIVINLFIGITAT
VATFLLQLFEHDKDLKVVNSYLKSCFLIFPNYNLGHGLMEMAYNEYINEYYAKIGQFDKM
KSPFEWDIVTRGLVAMAVEGVVGFLLTIMCQYNFLRRPQRMPVSTKPVEDDVDVASERQR
VLRGDADNDMVKIENLTKVYKSRKIGRILAVDRLCLGVRPGECFGLLGVNGAGKTSTFKM
LTGDESTTGGEAFVNGHSVLKELLQVQQSLGYCPQCDALFDELTAREHLQLYTRLRGISW
KDEARVVKWALEKLELTKYADKPAGTYSGGNKRKLSTAIALIGYPAFIFLDEPTTGMDPK
ARRFLWNLILDLIKTGRSVVLTSHSMEECEALCTRLAIMVNGRLRCLGSIQHLKNRFGDG
YMITVRTKSSQSVKDVVRFFNRNFPEAMLKERHHTKVQYQLKSEHISLAQVFSKMEQVSG
VLGIEDYSVSQTTLDNVFVNFAKKQSDNLEQQETEPPSALQSPLGCLLSLLRPRSAPTEL
RALVADEPEDLDTEDEGLISFEEERAQLSFNTDTLC
NT seq 7311 nt   +upstreamnt  +downstreamnt
atgggcttcctgcaccagctgcagctgctgctctggaagaacgtgacgctcaaacgccgg
agcccgtgggtcctggccttcgagatcttcatccccctggtgctgttctttatcctgctg
gggctgcgacagaagaagcccaccatctccgtgaaggaagtctccttctacacagcggcg
cccctgacgtctgccggcatcctgcctgtcatgcaatcgctgtgcccggacggccagcga
gacgagttcggcttcctgcagtacgccaactccacggtcacgcagctgcttgagcgcctg
gaccgcgtggtggaggaaggcaacctgtttgacccagcgcggcccagcctgggctcagag
ctcgaggccctacgccagcatctggaggccctcagtgcgggcccgggcacctcggggagc
cacctggacagatccacagtgtcttccttctctctggactcggtggccagaaacccgcag
gagctctggcgtttcctgacgcaaaacttgtcgctgcccaatagcacggcccaagcactc
ttggccgcccgtgtggacccgcccgaggtctaccacctgctctttggtccctcatctgcc
ctggattcacagtctggcctccacaagggtcaggagccctggagccgcctagggggcaat
cccctgttccggatggaggagctgctgctggctcctgccctcctggagcagctcacctgc
acgccgggctcgggggagctgggccggatcctcactgtgcctgagagtcagaagggagcc
ctgcagggctaccgggatgctgtctgcagtgggcaggctgctgcgcgtgccaggcgcttc
tctgggctgtctgctgagctccggaaccagctggacgtggccaaggtctcccagcagctg
ggcctggatgcccccaacggctcggactcctcgccacaggcgccacccccacggaggctg
caggcgcttctgggggacctgctggatgcccagaaggttctgcaggatgtggatgtcctg
tcggccctggccctgctactgccccagggtgcctgcactggccggacccccggaccccca
gccagtggtgcgggtggggcggccaatggcactggggcaggggcagtcatgggccccaac
gccaccgctgaggagggcgcaccctctgctgcagcactggccaccccggacacgctgcag
ggccagtgctcagccttcgtacagctctgggccggcctgcagcccatcttgtgtggcaac
aaccgcaccattgaacccgaggcgctgcggcggggcaacatgagctccctgggcttcacg
agcaaggagcagcggaacctgggcctcctcgtgcacctcatgaccagcaaccccaaaatc
ctgtacgcgcctgcgggctctgaggtcgaccgcgtcatcctcaaggccaacgagactttt
gcttttgtgggcaacgtgactcactatgcccaggtctggctcaacatctcggcggagatc
cgcagcttcctggagcagggcaggctgcagcaacacctgcgctggctgcagcagtatgta
gcagagctgcggctgcaccccgaggcactgaacctgtcactggatgagctgccgccggcc
ctgagacaggacaacttctcgctgcccagtggcatggccctcctgcagcagctggatacc
attgacaacgcggcctgcggctggatccagttcatgtccaaggtgagcgtggacatcttc
aagggcttccccgacgaggagagcattgtcaactacaccctcaaccaggcctaccaggac
aacgtcactgtttttgccagtgtgatcttccagacccggaaggacggctcgctcccgcct
cacgtgcactacaagatccgccagaactccagcttcaccgagaaaaccaacgagatccgc
cgcgcctactggcggcctgggcccaatactggcggccgcttctacttcctctacggcttc
gtctggatccaggacatgatggagcgcgccatcatcgacacttttgtggggcacgatgtg
gtggagccaggcagctacgtgcagatgttcccctacccctgctacacacgcgatgacttc
ctgtttgtcattgagcacatgatgccgctgtgcatggtgatctcctgggtctactccgtg
gccatgaccatccagcacatcgtggcggagaaggagcaccggctcaaggaggtgatgaag
accatgggcctgaacaacgcggtgcactgggtggcctggttcatcaccggctttgtgcag
ctgtccatctccgtgacagcactcaccgccatcctgaagtacggccaggtgcttatgcac
agccacgtggtcatcatctggctcttcctggcagtctacgcggtggccaccatcatgttc
tgcttcctggtgtctgtgctgtactccaaggccaagctggcctcggcctgcggtggcatc
atctacttcctgagctacgtgccctacatgtacgtggcgatccgagaggaggtggcgcat
gataagatcacggccttcgagaagtgcatcgcgtccctcatgtccacgacggcctttggt
ctgggctctaagtacttcgcgctgtatgaggtggccggcgtgggcatccagtggcacacc
ttcagccagtccccggtggagggggacgacttcaacttgctcctggctgtcaccatgctg
atggtggacgccgtggtctatggcatcctcacgtggtacattgaggctgtgcacccaggc
atgtacgggctgccccggccctggtacttcccactgcagaagtcctactggctgggcagt
gggcggacagaagcctgggagtggagctggccgtgggcacgcaccccccgcctcagtgtc
atggaggaggaccaggcctgtgccatggagagccggcgctttgaggagacccgtggcatg
gaggaggagcccacccacctgcctctggttgtctgcgtggacaaactcaccaaggtctac
aaggacgacaagaagctggccctgaacaagctgagcctgaacctctacgagaaccaggtg
gtctccttcttgggccacaacggggcgggcaagaccaccaccatgtccatcctgaccggc
ctgttccctccaacgtcgggttccgccaccatctacgggcacgacatccgcacggagatg
gatgagatccgcaagaacctgggcatgtgcccgcagcacaatgtgctctttgaccggctc
acggtggaggaacacctctggttctactcacggctcaagagcatggctcaggaggagatc
cgcagagagatggacaagatgatcgaggacctggagctctccaacaaacggcactcactg
gtgcagacattgtcgggtggcatgaagcgcaagctgtccgtggccatcgccttcgtgggc
ggctctcgcgccatcatcctggacgagcccacggcgggcgtggacccctacgcgcgccgc
gccatctgggacctcatcctgaagtacaagccaggccgcaccatccttctgtccacccac
cacatggatgaggctgacctgcttggggaccgcattgccatcatctcccatgggaagctc
aagtgctgcggctccccgctcttcctcaagggcacctatggcgacgggtaccgcctcacg
ctggtcaagcggcccgccgagccggggggcccccaagagccagggctggcatccagcccc
ccaggtcgggccccgctgagcagctgctccgagctccaggtgtcccagttcatccgcaag
catgtggcctcctgcctgctggtctcagacacaagcacggagctctcctacatcctgccc
agcgaggccgccaagaagggggctttcgagcgcctcttccagcacctggagcgcagcctg
gatgcactgcacctcagcagcttcgggctgatggacacgaccctggaggaagtgttcctc
aaggtgtcggaggaggatcagtcgctggagaacagtgaggccgatgtgaaggagtccagg
aaggatgtgctccctggggcggagggcccggcgtctggggagggtcacgctggcaatctg
gcccggtgctcggagctgacccagtcgcaggcatcgctgcagtcggcgtcatctgtgggc
tctgcccgtggcgacgagggagctggctacaccgacgtctatggcgactaccgccccctc
tttgataacccacaggacccagacaatgtcagcctgcaagaggtggaggcagaggccctg
tcgagggtcggccagggcagccgcaagctggacggcgggtggctgaaggtgcgccagttc
cacgggctgctggtcaaacgcttccactgcgcccgccgcaactccaaggcactcttctcc
cagatcttgctgccagccttcttcgtctgcgtggccatgaccgtggccctgtccgtcccg
gagattggtgatctgcccccgctggtcctgtcaccttcccagtaccacaactacacccag
ccccgtggcaatttcatcccctacgccaacgaggagcgccgcgagtaccggctgcggcta
tcgcccgacgccagcccccagcagctcgtgagcacgttccggctgccgtcgggggtgggt
gccacctgcgtgctcaagtctcccgccaacggctcgctggggcccacgttgaacctgagc
agcggggagtcgcgcctgctggcggctcggttcttcgacagcatgtgtctggagtccttc
acacaggggctgccactgtccaatttcgtgccacccccaccctcgcccgccccatctgac
tcgccagcgtccccggatgaggacctgcaggcctggaacgtctccctgccgcccaccgct
gggccagaaatgtggacgtcggcaccctccctgccgcgcctggtacgggagcccgtccgc
tgcacctgctctgcgcagggcaccggcttctcctgccccagcagtgtgggcgggcacccg
ccccagatgcgggtggtcacaggcgacatcctgaccgacatcaccggccacaatgtctct
gagtacctgctcttcacctccgaccgcttccgactgcaccggtatggggccatcaccttt
ggaaacgtcctgaagtccatcccagcctcatttggcaccagggccccacccatggtgcgg
aagatcgcggtgcgcagggctgcccaggttttctacaacaacaagggctatcacagcatg
cccacctacctcaacagcctcaacaacgccatcctgcgtgccaacctgcccaagagcaag
ggcaacccggcggcttacggcatcaccgtcaccaaccaccccatgaataagaccagcgcc
agcctctccctggattacctgctgcagggcacggatgtcgtcatcgccatcttcatcatc
gtggccatgtccttcgtgccggccagcttcgttgtcttcctcgtggccgagaagtccacc
aaggccaagcacctgcagtttgtcagcggctgcaaccccatcatctactggctggcgaac
tacgtgtgggacatgctcaactacctggtccccgctacctgctgtgtcatcatcctgttt
gtgttcgacctgccggcctacacgtcgcccaccaacttccctgccgtcctctccctcttc
ctgctctatgggtggtccatcacgcccatcatgtacccggcctccttctggttcgaggtc
cccagctccgcctacgtgttcctcattgtcatcaatctcttcatcggcatcaccgccacc
gtggccaccttcctgctacagctcttcgagcacgacaaggacctgaaggttgtcaacagt
tacctgaaaagctgcttcctcattttccccaactacaacctgggccacgggctcatggag
atggcctacaacgagtacatcaacgagtactacgccaagattggccagtttgacaagatg
aagtccccgttcgagtgggacattgtcacccgcggactggtggccatggcggttgagggc
gtcgtgggcttcctcctgaccatcatgtgccagtacaacttcctgcggcggccacagcgc
atgcctgtgtctaccaagcctgtggaggatgatgtggacgtggccagtgagcggcagcga
gtgctccggggagacgccgacaatgacatggtcaagattgagaacctgaccaaggtctac
aagtcccggaagattggccgtatcctggccgttgaccgcctgtgcctgggtgtgcgtcct
ggcgagtgcttcgggctcctgggcgtcaacggtgcgggcaagaccagcaccttcaagatg
ctgaccggcgacgagagcacgacggggggcgaggccttcgtcaatggacacagcgtgctg
aaggagctgctccaggtgcagcagagcctcggctactgcccgcagtgtgacgcgctgttc
gacgagctcacggcccgggagcacctgcagctgtacacgcggctgcgtgggatctcctgg
aaggacgaggcccgggtggtgaagtgggctctggagaagctggagctgaccaagtacgca
gacaagccggctggcacctacagcggcggcaacaagcggaagctctccacggccatcgcc
ctcattgggtacccagccttcatcttcctggacgagcccaccacaggcatggaccccaag
gcccggcgcttcctctggaacctcatccttgacctcatcaagacagggcgttcagtggtg
ctgacatcacacagcatggaggagtgcgaggcgctgtgcacgcggctggccatcatggtg
aacggtcgcctgcggtgcctgggcagcatccagcacctgaagaaccggtttggagatggc
tacatgatcacggtgcggaccaagagcagccagagtgtgaaggacgtggtgcggttcttc
aaccgcaacttcccggaagccatgctcaaggagcggcaccacacaaaggtgcagtaccag
ctcaagtcggagcacatctcgctggcccaggtgttcagcaagatggagcaggtgtctggc
gtgctgggcatcgaggactactcggtcagccagaccacactggacaatgtgttcgtgaac
tttgccaagaagcagagtgacaacctggagcagcaggagacggagccgccatccgcactg
cagtcccctctcggctgcttgctcagcctgctccggccccggtctgcccccacggagctc
cgggcacttgtggcagacgagcccgaggacctggacacggaggacgagggcctcatcagc
ttcgaggaggagcgggcccagctgtccttcaacacggacacgctctgctga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (2)   
   KEGG PATHWAY (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (30)   
   KEGG ORTHOLOGY (1)   
   RefGene (22)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (7)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (5)   
DNA sequence (67)   
   RefSeq(nuc) (5)   
   GenBank (31)   
   EMBL (31)   
Protein domain (3)   
   Pfam (3)   
All databases (115)   

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