| Entry |
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| Symbol |
INF2, C14orf151, C14orf173, CMTDIE, FSGS5, pp9484
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| Name |
(RefSeq) inverted formin 2
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| KO |
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| Organism |
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| Pathway |
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| Disease |
| H00264 | Charcot-Marie-Tooth disease |
| H00626 | Focal segmental glomerulosclerosis |
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| Brite |
KEGG Orthology (KO) [BR:hsa00001]
09140 Cellular Processes
09142 Cell motility
04820 Cytoskeleton in muscle cells
64423 (INF2)
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
04812 Cytoskeleton proteins [BR:hsa04812]
64423 (INF2)
Cytoskeleton proteins [BR:hsa04812]
Eukaryotic cytoskeleton proteins
Actin filaments / Microfilaments
Actin-binding proteins
Formins
64423 (INF2)
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| SSDB |
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| Motif |
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| Other DBs |
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| Structure |
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| LinkDB |
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| Position |
14:104681133..104722535
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| AA seq |
1249 aa
MSVKEGAQRKWAALKEKLGPQDSDPTEANLESADPELCIRLLQMPSVVNYSGLRKRLEGS
DGGWMVQFLEQSGLDLLLEALARLSGRGVARISDALLQLTCVSCVRAVMNSRQGIEYILS
NQGYVRQLSQALDTSNVMVKKQVFELLAALCIYSPEGHVLTLDALDHYKTVCSQQYRFSI
VMNELSGSDNVPYVVTLLSVINAVILGPEDLRARTQLRNEFIGLQLLDVLARLRDLEDAD
LLIQLEAFEEAKAEDEEELLRVSGGVDMSSHQEVFASLFHKVSCSPVSAQLLSVLQGLLH
LEPTLRSSQLLWEALESLVNRAVLLASDAQECTLEEVVERLLSVKGRPRPSPLVKAHKSV
QANLDQSQRGSSPQNTTTPKPSVEGQQPAAAAACEPVDHAQSESILKVSQPRALEQQAST
PPPPPPPPLLPGSSAEPPPPPPPPPLPSVGAKALPTAPPPPPLPGLGAMAPPAPPLPPPL
PGSCEFLPPPPPPLPGLGCPPPPPPLLPGMGWGPPPPPPPLLPCTCSPPVAGGMEEVIVA
QVDHGLGSAWVPSHRRVNPPTLRMKKLNWQKLPSNVAREHNSMWASLSSPDAEAVEPDFS
SIERLFSFPAAKPKEPTMVAPRARKEPKEITFLDAKKSLNLNIFLKQFKCSNEEVAAMIR
AGDTTKFDVEVLKQLLKLLPEKHEIENLRAFTEERAKLASADHFYLLLLAIPCYQLRIEC
MLLCEGAAAVLDMVRPKAQLVLAACESLLTSRQLPIFCQLILRIGNFLNYGSHTGDADGF
KISTLLKLTETKSQQNRVTLLHHVLEEAEKSHPDLLQLPRDLEQPSQAAGINLEIIRSEA
SSNLKKLLETERKVSASVAEVQEQYTERLQASISAFRALDELFEAIEQKQRELADYLCED
AQQLSLEDTFSTMKAFRDLFLRALKENKDRKEQAAKAERRKQQLAEEEARRPRGEDGKPV
RKGPGKQEEVCVIDALLADIRKGFQLRKTARGRGDTDGGSKAASMDPPRATEPVATSNPA
GDPVGSTRCPASEPGLDATTASESRGWDLVDAVTPGPQPTLEQLEEGGPRPLERRSSWYV
DASDVLTTEDPQCPQPLEGAWPVTLGDAQALKPLKFSSNQPPAAGSSRQDAKDPTSLLGV
LQAEADSTSEGLEDAVHSRGARPPAAGPGGDEDEDEEDTAPESALDTSLDKSFSEDAVTD
SSGSGTLPRARGRASKGTGKRRKKRPSRSQEEVPPDSDDNKTKKLCVIQ |
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| NT seq |
3750 nt +upstreamnt +downstreamnt
atgtcggtgaaggagggcgcacagcgcaagtgggcagcgctgaaggagaagctggggcca
caggattcggaccccacggaggccaacctggagagcgcggaccccgagctgtgcatccgg
ctgctccagatgccctctgtggtcaactactccggcctgcgcaagcgcctggagggcagc
gacggcggctggatggtgcagttcctggagcagagcggcctggacctgctgctggaggcg
ctggcgcggctgtcgggccgcggcgttgcacgtatctccgacgccctgctgcagctcacc
tgcgtcagctgcgtgcgcgccgtcatgaactcgcggcagggcatcgagtacatcctcagc
aaccagggctacgtgcgccagctctcccaggccctggacacatccaacgtgatggtgaag
aagcaggtgtttgagctactggctgccctgtgcatctactctcccgagggccacgtgctg
accctggacgccctggaccactacaagacggtgtgcagccagcagtaccgcttcagcatt
gtcatgaacgagctctccggcagcgacaacgtgccctacgtggtcaccctgcttagcgtg
atcaacgccgtcatcttgggccccgaggacctgcgcgcgcgcacccagctgcggaacgag
tttatcgggctgcagctgctggacgtcctggctcgcctgcgagacctggaggatgccgac
ctgctgatccagctggaggctttcgaggaggctaaggccgaggacgaggaggagctgctg
cgagtctctggcggggtcgacatgagcagccaccaggaggtctttgcctccctgttccac
aaggtgagctgctccccggtgtctgcccagctcctgtcggtgctgcagggcctcctgcac
ctggagcccaccctccgctccagccagctgctctgggaggccctggagagcctcgtgaac
cgggccgtgctcctggccagcgatgcccaggaatgcaccctggaggaagtggttgagcgg
ctcctgtctgtcaaggggcgacccagaccgagccccctggtcaaggcccataaaagcgtc
caggccaacctagaccagagccagaggggcagctccccgcaaaacactacaacccccaag
cccagcgtggagggccagcagccagcagcagctgctgcctgcgagcccgtggaccacgcc
cagagtgagagcatcctgaaagtttcgcagcccagagccctggagcagcaggcgtccacc
ccacccccacccccacccccacccctgctccctggttccagtgccgagccccctccccct
cccccaccaccccccctgcccagtgtgggggctaaggccctcccaacagcacccccgccc
ccacccctgccaggcctgggggccatggcccccccagcacctcctctaccaccacccctg
ccaggctcctgtgagttcctgcccccaccacctccaccactcccgggcttgggatgcccg
cccccacccccacccctgctgcctggtatgggctggggccctcctccacccccacctcca
ctactgccctgcacctgcagcccccccgtggcgggaggcatggaggaggtcatcgtggcc
caggtggaccatggcttgggctcagcatgggtccccagccatcggcgggtgaacccaccc
acactgcgcatgaagaagctgaactggcagaagctgccatccaacgtggcacgtgagcac
aactctatgtgggcgtccctgagcagccccgacgccgaggctgtggagcccgacttctcc
agcatcgagcgactattctccttccctgcagccaagcccaaggagcccaccatggtggcc
ccccgggccaggaaggagcccaaggagatcactttcctcgatgccaagaagagcctgaac
ctcaacatcttcctgaagcaatttaagtgctccaacgaggaggtcgctgctatgatccgg
gctggagataccaccaagtttgatgtggaggttctcaaacaactccttaagctccttccc
gagaagcacgagattgaaaacctgcgggcattcacagaggagcgagccaagctggccagc
gccgaccacttctacctcctcctgctggccattccctgctaccagctgcgaatcgagtgc
atgctgctgtgtgagggcgcggccgccgtgctggacatggtgcggcccaaggcccagctg
gtgctggctgcctgcgaaagcctgctcaccagccgccagctgcccatcttctgccagctg
atcctgagaattgggaacttcctcaactacggcagccacaccggtgacgccgacggcttc
aagatcagcacattgctgaagctcacggagaccaagtcccagcagaaccgcgtgacgctg
ctgcaccacgtgctggaggaagcggaaaagagccaccccgacctcctgcagctgccccgg
gacctggaacagccctcgcaagcagcagggatcaacctggagatcatccgctcagaggcc
agctccaacctgaagaagcttctggagaccgagcggaaggtgtctgcctccgtggccgag
gtccaggagcagtacaccgagcgcctccaggccagcatctcggccttccgggcactggat
gagctgtttgaggccatcgagcagaagcaacgggagctggccgactacctgtgtgaggac
gcccagcagctgtccctggaggacacgttcagcaccatgaaggctttccgggaccttttc
ctccgcgccctgaaggagaacaaggaccggaaggagcaggcggcgaaggcagagaggagg
aagcagcagctggcggaggaggaggcgcggcggcctcggggagaggacgggaagcctgtc
aggaaggggcccgggaagcaggaggaggtgtgtgtcatcgatgccctgctggctgacatc
aggaagggcttccagctgcggaagacagcccggggccgcggggacaccgacgggggcagc
aaggcagcctccatggatcccccaagagccacagagcctgtggccaccagtaaccctgca
ggagatcccgtgggcagcacgcgctgtcccgcctctgagcccggccttgatgctacaaca
gccagcgagtcccggggctgggaccttgtagacgccgtgacccccggccctcagcccacc
ctggagcagttggaggagggtggtccacggcccctggagaggcgttcttcctggtatgtg
gatgccagcgatgtcctaaccactgaggatccccagtgcccccagcccttggagggggcc
tggccggtgactctgggagatgctcaggccctgaagcccctcaagttctccagcaaccag
ccccctgcagccggaagttcaaggcaagatgccaaggatcccacgtccttgctgggcgtc
ctccaggccgaggccgacagcacaagtgaggggctggaggacgctgtccacagccgtggt
gccagaccccctgcagcaggcccaggtggggatgaggacgaggacgaggaggacacggcc
ccagagtccgcactggacacatccctggacaagtccttctccgaggatgcggtgaccgac
tcctcggggtcgggcacactccccagggcccggggccgggcctcaaaggggaccgggaag
cgaaggaagaagcgtccctccaggagccaggaagaggttccccctgattctgatgataat
aaaacaaagaaactgtgtgtgatccagtaa |
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