KEGG   Homo sapiens (human): 64423
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)
SSDB
Motif
Pfam: FH2 Drf_FH3 Drf_GBD WH2
Other DBs
NCBI-GeneID: 64423
NCBI-ProteinID: NP_071934
OMIM: 610982
HGNC: 23791
Ensembl: ENSG00000203485
UniProt: Q27J81
Position
14:104689618..104722535
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
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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (63)   
   KEGG ORTHOLOGY (1)   
   RefGene (53)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (12)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (10)   
DNA sequence (57)   
   RefSeq(nuc) (11)   
   GenBank (23)   
   EMBL (23)   
Protein domain (4)   
   Pfam (4)   
All databases (145)   

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