KEGG   Homo sapiens (human): 583
Entry
583               CDS       T01001                                 
Symbol
BBS2, BBS, RP74
Name
(RefSeq) Bardet-Biedl syndrome 2
  KO
K16747  Bardet-Biedl syndrome 2 protein
Organism
hsa  Homo sapiens (human)
Disease
H00418  Bardet-Biedl syndrome
H00527  Retinitis pigmentosa
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    583 (BBS2)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  BBSome
   583 (BBS2)
SSDB
Motif
Pfam: BBS2_C BBS2_Mid BBS2_N FG-GAP FG-GAP_3 Itfg2 DUF2935 POLO_box
Other DBs
NCBI-GeneID: 583
NCBI-ProteinID: NP_114091
OMIM: 606151
HGNC: 967
Ensembl: ENSG00000125124
UniProt: Q9BXC9
Position
16:complement(56470403..56520024)
AA seq 721 aa
MLLPVFTLKLRHKISPRMVAIGRYDGTHPCLAAATQTGKVFIHNPHTRNQHVSASRVFQS
PLESDVSLLSINQAVSCLTAGVLNPELGYDALLVGTQTNLLAYDVYNNSDLFYREVADGA
NAIVLGTLGDISSPLAIIGGNCALQGFNHEGSDLFWTVTGDNVNSLALCDFDGDGKKELL
VGSEDFDIRVFKEDEIVAEMTETEIVTSLCPMYGSRFGYALSNGTVGVYDKTSRYWRIKS
KNHAMSIHAFDLNSDGVNELITGWSNGKVDARSDRTGEVIFKDNFSSAIAGVVEGDYRMD
GHIQLICCSVDGEIRGYLPGTAEMRGNLMDTSAEQDLIRELSQKKQNLLLELRNYEENAK
AELASPLNEADGHRGIIPANTRLHTTLSVSLGNETQTAHTELRISTSNDTIIRAVLIFAE
GIFTGESHVVHPSIHNLSSSICIPIVPPKDVPVDLHLKAFVGYRSSTQFHVFESTRQLPR
FSMYALTSLDPASEPISYVNFTIAERAQRVVVWLGQNFLLPEDTHIQNAPFQVCFTSLRN
GGHLHIKIKLSGEITINTDDIDLAGDIIQSMASFFAIEDLQVEADFPVYFEELRKVLVKV
DEYHSVHQKLSADMADHSNLIRSLLVGAEDARLMRDMKTMKSRYMELYDLNRDLLNGYKI
RCNNHTELLGNLKAVNQAIQRAGRLRVGKPKNQVITACRDAIRSNNINTLFKIMRVGTAS
S
NT seq 2166 nt   +upstreamnt  +downstreamnt
atgctgctgcctgtgttcaccctgaaactgcgccacaaaatcagcccccgaatggtggcc
atagggcgctacgacgggactcacccgtgcctggcggccgccacccaaacgggcaaggtt
tttattcataatcctcatacacggaaccagcatgtcagtgcatccagggtcttccagagc
cccctggaatctgatgtttctcttctcagcattaaccaggcagtcagctgtctgactgca
ggcgtattgaaccctgagcttggctatgatgcccttttagtggggacacagactaatctt
ttggcttatgatgtctacaataattcggatttgttctacagagaggtagcagatggggca
aatgcaattgtgctggggacattgggagacatttcttcccctcttgcgattattggtggc
aattgtgctctgcaaggtttcaatcatgaaggaagtgatctcttttggacggttactgga
gacaatgttaattccttggccttgtgtgactttgatggtgatggaaagaaagagcttctt
gttggatctgaggattttgatatccgagtttttaaggaagatgagattgtggcagaaatg
acagaaacagagatagtcacctctctttgtcccatgtatggcagtcgatttggttatgcc
ctttccaatggcacagttggagtttatgacaaaacatcccgatactggagaattaaatcg
aaaaatcatgccatgagcattcatgcttttgaccttaattctgatggagtgaatgaactg
ataactggttggtccaatgggaaggttgatgctcgaagtgaccgaactggggaggtcatc
tttaaggacaatttttcttctgcaattgccggtgtggtagagggagattaccggatggat
ggccacatacagttaatctgctgctcagtggatggggaaatccggggctacctgcctggc
acggctgagatgaggggcaacctcatggacaccagtgcagagcaggacctgatccgagag
ctgagtcagaagaagcagaatctgttgctggaactccgtaactatgaggaaaatgccaag
gctgaattggccagtccactgaacgaggctgatgggcatcggggcataatcccagccaat
accaggctccacaccacgctctcagtcagcctggggaatgagacccaaactgctcataca
gaattacgcatttccacttctaatgacaccatcatccgagcagtattgatttttgcagaa
ggaatttttacaggtgaaagccacgtggtacatcccagcattcacaacctctccagttcc
atctgcatccctattgtgcctcccaaagatgtccctgtggatctgcacttgaaggcattc
gtgggttacagaagcagcacccagtttcatgtatttgaatcgacaagacagctccctcga
ttctccatgtatgcgctgaccagcctggaccctgccagtgagccaatcagttatgttaac
tttaccattgcagaacgggcacagagggttgttgtatggctcggtcagaactttctgtta
ccagaagacactcacattcagaatgctccatttcaagtgtgtttcacatctttacggaat
ggcggccacctgcatataaaaataaaacttagtggagagatcactataaatactgatgat
attgatttggctggtgatatcatccagtcaatggcatcattttttgctattgaagacctt
caagtagaagcggattttcctgtctattttgaggaattacgaaaggtgctagttaaggtg
gatgaatatcattcagtgcatcagaagctcagtgctgatatggctgatcattctaatttg
atccgaagtttgctggtcggagctgaggatgctcgtctgatgagggacatgaaaacaatg
aagagtcgttatatggaactctatgaccttaatagagacttgctaaatggatataaaatt
cgctgtaacaatcacacagagctgttgggaaacctcaaagcagtaaatcaagcaattcaa
agagcaggtcgtctgcgggttggaaaaccaaagaaccaggtgatcactgcttgtcgggat
gcaattcgaagcaataacatcaacacactgttcaaaatcatgcgagtggggacagcttct
tcctag

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (33)   
   KEGG ORTHOLOGY (1)   
   RefGene (24)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (6)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (31)   
   RefSeq(nuc) (9)   
   GenBank (11)   
   EMBL (11)   
Protein domain (8)   
   Pfam (8)   
All databases (86)   

Download RDF
DBGET integrated database retrieval system