KEGG   Homo sapiens (human): 8419
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)
SSDB
Motif
Pfam: Filament ATG17_like MCPVI
Other DBs
NCBI-GeneID: 8419
NCBI-ProteinID: NP_003562
OMIM: 603212
HGNC: 1041
Ensembl: ENSG00000170819
UniProt: Q13515
Position
3:133400056..133475208
AA seq 415 aa
MSERRVVVDLPTSASSSMPLQRRRASFRGPRSSSSLESPPASRTNAMSGLVRAPGVYVGT
APSGCIGGLGARVTRRALGISSVFLQGLRSSGLATVPAPGLERDHGAVEDLGGCLVEYMA
KVHALEQVSQELETQLRMHLESKATRSGNWGALRASWASSCQQVGEAVLENARLMLQTET
IQAGADDFKERYENEQPFRKAAEEEINSLYKVIDEANLTKMDLESQIESLKEELGSLSRN
YEEDVKLLHKQLAGCELEQMDAPIGTGLDDILETIRIQWERDVEKNRVEAGALLQAKQQA
EVAHMSQTQEEKLAAALRVELHNTSCQVQSLQAETESLRALKRGLENTLHDAKHWHDMEL
QNLGAVVGRLEAELREIRAEAEQQQQERAHLLARKCQLQKDVASYHALLDREESG
NT seq 1248 nt   +upstreamnt  +downstreamnt
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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Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (9)   
   KEGG ORTHOLOGY (1)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (5)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (17)   
   RefSeq(nuc) (3)   
   GenBank (7)   
   EMBL (7)   
Protein domain (3)   
   Pfam (3)   
All databases (40)   

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