Basic Information
Gene ID 55212 ; Check Expression Profles ; Check TFs & Targets Binding
Gene Name BBS7; BBS2L1
Full Name Bardet-Biedl syndrome 7 protein
Organism Homo sapiens [9606]

Cross Reference
UniProt Q8IWZ6 UniGene Hs.591694
PDB NULL OMIM 607590
KEGG hsa:55212 UCSC uc003ied.3

Protein Interactions
DIP DIP-46566N
IntAct Q8IWZ6
MINT NULL
STRING 9606.ENSP00000264499

Ensembl/RefSeq
Transcript ID
Protein ID
Gene ID
ENSEMBL
ENSEMBL
REFSEQ
REFSEQ

InterPro Annotation
Protein Program Term IPRS Start End Score Description
NP_789794 Gene3D G3DSA:2.130.10.10 IPR015943 207 292 2.40e-06 WD40/YVTN repeat-like-containing domain
NP_789794 Gene3D G3DSA:2.130.10.10 IPR015943 32 158 2.40e-06 WD40/YVTN repeat-like-containing domain
NP_789794 PANTHER PTHR16074:SF3 IPR016575 1 715 0.00e-00 Bardet-Biedl syndrome 7 protein
NP_789794 PIRSF PIRSF011091 IPR016575 1 715 0.00e-00 Bardet-Biedl syndrome 7 protein
NP_789794 SUPERFAMILY SSF50978 IPR017986 105 316 0.00e-00 WD40-repeat-containing domain
NP_789794 SUPERFAMILY SSF50978 IPR017986 33 59 0.00e-00 WD40-repeat-containing domain

Pfam Annotation
Protein Pfam ID E.value Name Description
NP_789794 PF14783 0.0006 BBS2_Mid Ciliary BBSome complex subunit 2, middle region

Gene Ontology Annotation
Protein Entry Name Space Description
NP_789794 GO:0001654 biological_process eye development
NP_789794 GO:0001947 biological_process heart looping
NP_789794 GO:0006357 biological_process regulation of transcription from RNA polymerase II promoter
NP_789794 GO:0007224 biological_process smoothened signaling pathway
NP_789794 GO:0007368 biological_process determination of left/right symmetry
NP_789794 GO:0007420 biological_process brain development
NP_789794 GO:0007601 biological_process visual perception
NP_789794 GO:0015031 biological_process protein transport
NP_789794 GO:0032402 biological_process melanosome transport
NP_789794 GO:0032436 biological_process positive regulation of proteasomal ubiquitin-dependent protein catabolic process
NP_789794 GO:0035058 biological_process nonmotile primary cilium assembly
NP_789794 GO:0045444 biological_process fat cell differentiation
NP_789794 GO:0048546 biological_process digestive tract morphogenesis
NP_789794 GO:0051877 biological_process pigment granule aggregation in cell center
NP_789794 GO:0060021 biological_process palate development
NP_789794 GO:0060173 biological_process limb development
NP_789794 GO:0060271 biological_process cilium morphogenesis
NP_789794 GO:0005737 cellular_component cytoplasm
NP_789794 GO:0005813 cellular_component centrosome
NP_789794 GO:0034464 cellular_component BBSome
NP_789794 GO:0060170 cellular_component ciliary membrane
NP_789794 GO:0001103 molecular_function RNA polymerase II repressing transcription factor binding
NP_789794 GO:0005515 molecular_function protein binding