Homo sapiens (human): 583
Help
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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
BBS2_Mid
BBS2_N
BBS2_GAE
BBS2_hp
BBS2_pf
BBS2_CtH
Beta-prop_BBS7
FG-GAP_3
FG-GAP
Itfg2
DUF2935
POLO_box
Motif
Other DBs
NCBI-GeneID:
583
NCBI-ProteinID:
NP_001364385
OMIM:
606151
HGNC:
967
Ensembl:
ENSG00000125124
UniProt:
Q9BXC9
A0A804HIE1
LinkDB
All DBs
Position
16:complement(56470403..56520024)
Genome browser
AA seq
721 aa
AA seq
DB search
MLLPVFTLKLRHKISPRMVAIGRYDGTHPCLAAATQTGKVFIHNPHTRNQHVSASRVFQS
PLESDVSLLSINQAVSCLTAGVLNPELGYDALLVGTQTNLLAYDVYNNSDLFYREVADGA
NAIVLGTLGDISSPLAIIGGNCALQGFNHEGSDLFWTVTGDNVNSLALCDFDGDGKKELL
VGSEDFDIRVFKEDEIVAEMTETEIVTSLCPMYGSRFGYALSNGTVGVYDKTSRYWRIKS
KNHAMSIHAFDLNSDGVNELITGWSNGKVDARSDRTGEVIFKDNFSSAIAGVVEGDYRMD
GHIQLICCSVDGEIRGYLPGTAEMRGNLMDTSAEQDLIRELSQKKQNLLLELRNYEENAK
AELASPLNEADGHRGIIPANTRLHTTLSVSLGNETQTAHTELRISTSNDTIIRAVLIFAE
GIFTGESHVVHPSIHNLSSSICIPIVPPKDVPVDLHLKAFVGYRSSTQFHVFESTRQLPR
FSMYALTSLDPASEPISYVNFTIAERAQRVVVWLGQNFLLPEDTHIQNAPFQVCFTSLRN
GGHLHIKIKLSGEITINTDDIDLAGDIIQSMASFFAIEDLQVEADFPVYFEELRKVLVKV
DEYHSVHQKLSADMADHSNLIRSLLVGAEDARLMRDMKTMKSRYMELYDLNRDLLNGYKI
RCNNHTELLGNLKAVNQAIQRAGRLRVGKPKNQVITACRDAIRSNNINTLFKIMRVGTAS
S
NT seq
2166 nt
NT seq
+upstream
nt +downstream
nt
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
DBGET
integrated database retrieval system