Homo sapiens (human): 8419
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Entry
8419 CDS
T01001
Symbol
BFSP2, CP47, CP49, CTRCT12, LIFL-L, PHAKOSIN
Name
(RefSeq) beaded filament structural protein 2
KO
K10379
phakinin
Organism
hsa
Homo sapiens (human)
Disease
H01202
Cataract
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
04812 Cytoskeleton proteins [BR:
hsa04812
]
8419 (BFSP2)
Cytoskeleton proteins [BR:
hsa04812
]
Eukaryotic cytoskeleton proteins
Intermediate filaments
Intermediate filaments
Others
8419 (BFSP2)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Filament
ANC1_spectrin
PUMA_CC
MCPVI
ATG17_like
Motif
Other DBs
NCBI-GeneID:
8419
NCBI-ProteinID:
NP_003562
OMIM:
603212
HGNC:
1041
Ensembl:
ENSG00000170819
UniProt:
Q13515
LinkDB
All DBs
Position
3:133400056..133475208
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AA seq
415 aa
AA seq
DB search
MSERRVVVDLPTSASSSMPLQRRRASFRGPRSSSSLESPPASRTNAMSGLVRAPGVYVGT
APSGCIGGLGARVTRRALGISSVFLQGLRSSGLATVPAPGLERDHGAVEDLGGCLVEYMA
KVHALEQVSQELETQLRMHLESKATRSGNWGALRASWASSCQQVGEAVLENARLMLQTET
IQAGADDFKERYENEQPFRKAAEEEINSLYKVIDEANLTKMDLESQIESLKEELGSLSRN
YEEDVKLLHKQLAGCELEQMDAPIGTGLDDILETIRIQWERDVEKNRVEAGALLQAKQQA
EVAHMSQTQEEKLAAALRVELHNTSCQVQSLQAETESLRALKRGLENTLHDAKHWHDMEL
QNLGAVVGRLEAELREIRAEAEQQQQERAHLLARKCQLQKDVASYHALLDREESG
NT seq
1248 nt
NT seq
+upstream
nt +downstream
nt
atgagtgagaggcgagtggtagtggacttgcccaccagtgccagctccagcatgcccctc
cagaggcgcagggcgtccttcagggggccacggtcatcatcctccctggagagcccccca
gcctccaggaccaatgccatgagtggccttgtccgagcacccggggtctatgtaggaaca
gcacccagtgggtgcataggtggcttgggtgcccgtgtgacccgccgggccctcggcatc
agcagtgtcttccttcagggcctgcggagctcaggcctggccaccgtgccggctccaggt
ttggagagggaccatggtgctgttgaggacctagggggctgcctggtggaatatatggcc
aaagtgcacgcccttgagcaagtcagtcaggagctggaaacacaactgcggatgcacctg
gagagcaaagccacacgctcgggaaactggggtgccctacgggcttcctgggccagcagc
tgccagcaggtgggtgaggcagtcttggaaaatgcccggctcatgctgcagacagaaact
atccaggccggagcagatgactttaaagagagatatgaaaatgagcagccatttcgaaag
gcggcagaagaggaaattaactctctgtataaagtcattgatgaggctaatttgactaaa
atggacctggagagtcaaatagaaagtctgaaagaagaacttggctctctatcaagaaac
tatgaagaggatgtgaagctgctgcacaaacagttggcagggtgtgagctggaacaaatg
gatgctcccattggcactggtctggacgacatccttgagacgatcagaattcagtgggag
agagatgttgaaaagaaccgggtggaggcaggagccctgctccaagctaagcaacaggcg
gaggtggcccacatgtcccagacccaggaggagaagctggcagctgccctcagggtggag
ttacacaacacttcgtgccaagtccagagcctccaggctgagacagaatccttacgtgcc
ctgaaacgaggcctggagaacaccttgcacgatgccaagcactggcatgacatggagctc
cagaacctgggcgctgtggtcggccggctggaggcggagctcagggaaatccgagcggag
gcggagcagcagcaacaggagcgcgcgcatctgctggcccgcaagtgccagctgcagaag
gacgtggcgtcctaccacgccctgctggacagggaggagagcggctga
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