Entry |
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Symbol |
ABCA2, ABC2, IDPOGSA
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Name |
(RefSeq) ATP binding cassette subfamily A member 2
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KO |
K05642 | ATP-binding cassette, subfamily A (ABC1), member 2 |
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Organism |
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Pathway |
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Disease |
H02463 | Syndromic intellectual developmental disorder |
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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)
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SSDB |
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Motif |
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Other DBs |
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LinkDB |
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Position |
9:complement(137007234..137028922)
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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 |