Homo sapiens (human): 64423
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Entry
64423 CDS
T01001
Symbol
INF2, C14orf151, C14orf173, CMTDIE, FSGS5, pp9484
Name
(RefSeq) inverted formin 2
KO
K23958
inverted formin-2
Organism
hsa
Homo sapiens (human)
Pathway
hsa04820
Cytoskeleton in muscle cells
Disease
H00264
Charcot-Marie-Tooth disease
H00626
Focal segmental glomerulosclerosis
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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
FH2
Drf_FH3
Drf_GBD
FH3_FHOD1-3
WH2
Motif
Other DBs
NCBI-GeneID:
64423
NCBI-ProteinID:
NP_001413792
OMIM:
610982
HGNC:
23791
Ensembl:
ENSG00000203485
UniProt:
Q27J81
Structure
PDB
PDBj
LinkDB
All DBs
Position
14:104681133..104722535
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AA seq
1249 aa
AA seq
DB search
MSVKEGAQRKWAALKEKLGPQDSDPTEANLESADPELCIRLLQMPSVVNYSGLRKRLEGS
DGGWMVQFLEQSGLDLLLEALARLSGRGVARISDALLQLTCVSCVRAVMNSRQGIEYILS
NQGYVRQLSQALDTSNVMVKKQVFELLAALCIYSPEGHVLTLDALDHYKTVCSQQYRFSI
VMNELSGSDNVPYVVTLLSVINAVILGPEDLRARTQLRNEFIGLQLLDVLARLRDLEDAD
LLIQLEAFEEAKAEDEEELLRVSGGVDMSSHQEVFASLFHKVSCSPVSAQLLSVLQGLLH
LEPTLRSSQLLWEALESLVNRAVLLASDAQECTLEEVVERLLSVKGRPRPSPLVKAHKSV
QANLDQSQRGSSPQNTTTPKPSVEGQQPAAAAACEPVDHAQSESILKVSQPRALEQQAST
PPPPPPPPLLPGSSAEPPPPPPPPPLPSVGAKALPTAPPPPPLPGLGAMAPPAPPLPPPL
PGSCEFLPPPPPPLPGLGCPPPPPPLLPGMGWGPPPPPPPLLPCTCSPPVAGGMEEVIVA
QVDHGLGSAWVPSHRRVNPPTLRMKKLNWQKLPSNVAREHNSMWASLSSPDAEAVEPDFS
SIERLFSFPAAKPKEPTMVAPRARKEPKEITFLDAKKSLNLNIFLKQFKCSNEEVAAMIR
AGDTTKFDVEVLKQLLKLLPEKHEIENLRAFTEERAKLASADHFYLLLLAIPCYQLRIEC
MLLCEGAAAVLDMVRPKAQLVLAACESLLTSRQLPIFCQLILRIGNFLNYGSHTGDADGF
KISTLLKLTETKSQQNRVTLLHHVLEEAEKSHPDLLQLPRDLEQPSQAAGINLEIIRSEA
SSNLKKLLETERKVSASVAEVQEQYTERLQASISAFRALDELFEAIEQKQRELADYLCED
AQQLSLEDTFSTMKAFRDLFLRALKENKDRKEQAAKAERRKQQLAEEEARRPRGEDGKPV
RKGPGKQEEVCVIDALLADIRKGFQLRKTARGRGDTDGGSKAASMDPPRATEPVATSNPA
GDPVGSTRCPASEPGLDATTASESRGWDLVDAVTPGPQPTLEQLEEGGPRPLERRSSWYV
DASDVLTTEDPQCPQPLEGAWPVTLGDAQALKPLKFSSNQPPAAGSSRQDAKDPTSLLGV
LQAEADSTSEGLEDAVHSRGARPPAAGPGGDEDEDEEDTAPESALDTSLDKSFSEDAVTD
SSGSGTLPRARGRASKGTGKRRKKRPSRSQEEVPPDSDDNKTKKLCVIQ
NT seq
3750 nt
NT seq
+upstream
nt +downstream
nt
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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