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BBS12 [cytosol]
Stable Identifier
R-HSA-5624082
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Locations in the PathwayBrowser
Expand all
Organelle biogenesis and maintenance (Homo sapiens)
Cilium Assembly (Homo sapiens)
Cargo trafficking to the periciliary membrane (Homo sapiens)
BBSome-mediated cargo-targeting to cilium (Homo sapiens)
Formation of the BBSome (Homo sapiens)
BBS/CCT complex [cytosol] (Homo sapiens)
BBS12 [cytosol] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q6ZW61 BBS12
Gene Names
BBS12, C4orf24
Chain
chain:1-710
Reference Genes
BioGPS Gene:166379 BBS12
COSMIC (genes):BBS12 BBS12
CTD Gene:166379 BBS12
dbSNP Gene:166379 BBS12
ENSEMBL:ENSG00000181004 BBS12
HGNC:26648 BBS12
Monarch:166379 BBS12
NCBI Gene:166379 BBS12
OMIM:610683 BBS12
UCSC:Q6ZW61 BBS12
Reference Transcript
RefSeq:XM_011531680.2 BBS12
RefSeq:XM_017007831.1 BBS12
RefSeq:NM_001178007.1 BBS12
RefSeq:NM_152618.2 BBS12
Other Identifiers
11727881_at
11727882_at
166379
16970399
229603_PM_at
229603_at
2742092
2742094
2742095
2742096
2742097
2742098
2742099
2742100
45460_at
47412_at
8097252
A_14_P112682
A_32_P235796
GE88240
GO:0005515
GO:0005524
GO:0005929
GO:0007018
GO:0030154
GO:0042073
GO:0042755
GO:0043226
GO:0045444
GO:0045494
GO:0045599
GO:0048863
GO:0051131
GO:0065003
GO:2000737
HMNXSV003057971
Hs.26912.0.A1_3p_at
ILMN_2166972
PH_hs_0028330
PH_hs_0028828
TC04000629.hg
Participates
as a component of
BBS/CCT complex [cytosol] (Homo sapiens)
Cross References
ENSEMBL
ENSP00000438273
,
ENST00000314218
,
ENST00000542236
,
ENSP00000319062
OpenTargets
ENSG00000181004
HPA
ENSG00000181004-BBS12
PRO
Q6ZW61
Pharos - Targets
Q6ZW61
Orphanet
BBS12
Interactors (3)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q8IWZ6 BBS7
1
BBS7 [cytosol]
(R-HSA-5617632)
0.784
8
UniProt:Q96AC1 FERMT2
1
FERMT2 [cytosol]
(R-HSA-430275)
0.534
2
UniProt:Q9BXC9 BBS2
1
BBS2 [cytosol]
(R-HSA-5617637)
0.499
2
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