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Protein

Bardet-Biedl syndrome 2 protein

Gene

BBS2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization.2 Publications

GO - Molecular functioni

  • RNA polymerase II repressing transcription factor binding Source: MGI

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation, Protein transport, Sensory transduction, Transport, Vision

Enzyme and pathway databases

BioCyciZFISH:ENSG00000125124-MONOMER.
ReactomeiR-HSA-5620922. BBSome-mediated cargo-targeting to cilium.

Names & Taxonomyi

Protein namesi
Recommended name:
Bardet-Biedl syndrome 2 protein
Gene namesi
Name:BBS2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:967. BBS2.

Subcellular locationi

GO - Cellular componenti

  • BBSome Source: UniProtKB
  • ciliary basal body Source: BHF-UCL
  • ciliary membrane Source: UniProtKB-SubCell
  • cytosol Source: Reactome
  • membrane Source: GO_Central
  • microvillus Source: Ensembl
  • motile cilium Source: BHF-UCL
  • stereocilium Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Involvement in diseasei

Bardet-Biedl syndrome 2 (BBS2)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
See also OMIM:615981
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03888923R → P in BBS2. 1 Publication1
Natural variantiVAR_01316270N → S in BBS2. 1 PublicationCorresponds to variant rs4784677dbSNPEnsembl.1
Natural variantiVAR_01316375V → G in BBS2; in linkage disequilibrium with V-123 in a Bedouin kindred. 1 Publication1
Natural variantiVAR_06628081G → C in BBS2. 1 Publication1
Natural variantiVAR_013164104D → A in BBS2 and RP74. 3 Publications1
Natural variantiVAR_066281125L → R in BBS2. 1 Publication1
Natural variantiVAR_066282136A → P in BBS2. 1 Publication1
Natural variantiVAR_075728139G → V in BBS2. 1 Publication1
Natural variantiVAR_038890174D → E in BBS2. 1 Publication1
Natural variantiVAR_066283307C → W in BBS2. 1 Publication1
Natural variantiVAR_013166315R → Q in BBS2. 2 Publications1
Natural variantiVAR_013167315R → W in BBS2. 1 Publication1
Natural variantiVAR_066284317Y → C in BBS2. 1 Publication1
Natural variantiVAR_038891349L → W in BBS2; has a modifier effect on BBS. 1 Publication1
Natural variantiVAR_013168558T → I in BBS2. 1 Publication1
Natural variantiVAR_013169632R → P in BBS2 and RP74. 3 Publications1
Natural variantiVAR_038892643R → H in BBS2. 1 Publication1
Retinitis pigmentosa 74 (RP74)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
See also OMIM:616562
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07572633A → D in RP74. 1 Publication1
Natural variantiVAR_013164104D → A in BBS2 and RP74. 3 Publications1
Natural variantiVAR_075727134P → R in RP74. 1 Publication1
Natural variantiVAR_013169632R → P in BBS2 and RP74. 3 Publications1

Keywords - Diseasei

Bardet-Biedl syndrome, Ciliopathy, Disease mutation, Mental retardation, Obesity, Retinitis pigmentosa

Organism-specific databases

DisGeNETi583.
MalaCardsiBBS2.
MIMi615981. phenotype.
616562. phenotype.
Orphaneti110. Bardet-Biedl syndrome.
PharmGKBiPA25276.

Polymorphism and mutation databases

BioMutaiBBS2.
DMDMi20454827.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000648431 – 721Bardet-Biedl syndrome 2 proteinAdd BLAST721

Proteomic databases

EPDiQ9BXC9.
MaxQBiQ9BXC9.
PaxDbiQ9BXC9.
PeptideAtlasiQ9BXC9.
PRIDEiQ9BXC9.

PTM databases

iPTMnetiQ9BXC9.
PhosphoSitePlusiQ9BXC9.

Expressioni

Tissue specificityi

Widely expressed.

Gene expression databases

BgeeiENSG00000125124.
CleanExiHS_BBS2.
ExpressionAtlasiQ9BXC9. baseline and differential.
GenevisibleiQ9BXC9. HS.

Organism-specific databases

HPAiHPA041315.

Interactioni

Subunit structurei

Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts (via C-terminus) with BBS7. Interacts (via coiled coil domain) with MKKS. Interacts with CCDC28B and ALDOB.5 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ALDOBP050624EBI-748297,EBI-1045507
BBS1Q8NFJ98EBI-748297,EBI-1805484
BBS7Q8IWZ613EBI-748297,EBI-1806001
BBS9Q3SYG410EBI-748297,EBI-2826852
CEP290O150783EBI-748297,EBI-1811944
IQCB1Q150518EBI-748297,EBI-2805823
MDFIQ997505EBI-748297,EBI-724076
MKKSQ9NPJ14EBI-748297,EBI-721319
PSME3P612894EBI-748297,EBI-355546
RBPMSQ930623EBI-748297,EBI-740322

GO - Molecular functioni

  • RNA polymerase II repressing transcription factor binding Source: MGI

Protein-protein interaction databases

BioGridi107059. 23 interactors.
DIPiDIP-46563N.
IntActiQ9BXC9. 38 interactors.
MINTiMINT-1454659.
STRINGi9606.ENSP00000245157.

Structurei

3D structure databases

ProteinModelPortaliQ9BXC9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili325 – 369Sequence analysisAdd BLAST45

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IF6W. Eukaryota.
ENOG410XPDF. LUCA.
HOGENOMiHOG000007549.
HOVERGENiHBG031114.
InParanoidiQ9BXC9.
KOiK16747.
OrthoDBiEOG091G03EK.
PhylomeDBiQ9BXC9.
TreeFamiTF313236.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR016616. Bardet-Biedl_syndrome_2_prot.
IPR029333. BBS2_C.
IPR029429. BBS2_Mid.
IPR029430. BBS2_N.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR017986. WD40_repeat_dom.
[Graphical view]
PANTHERiPTHR32465:SF0. PTHR32465:SF0. 1 hit.
PfamiPF14782. BBS2_C. 1 hit.
PF14783. BBS2_Mid. 1 hit.
PF14781. BBS2_N. 1 hit.
[Graphical view]
PIRSFiPIRSF013684. BBS2. 1 hit.
SUPFAMiSSF50978. SSF50978. 2 hits.

Sequencei

Sequence statusi: Complete.

Q9BXC9-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MLLPVFTLKL RHKISPRMVA IGRYDGTHPC LAAATQTGKV FIHNPHTRNQ
60 70 80 90 100
HVSASRVFQS PLESDVSLLN INQAVSCLTA GVLNPELGYD ALLVGTQTNL
110 120 130 140 150
LAYDVYNNSD LFYREVADGA NAIVLGTLGD ISSPLAIIGG NCALQGFNHE
160 170 180 190 200
GSDLFWTVTG DNVNSLALCD FDGDGKKELL VGSEDFDIRV FKEDEIVAEM
210 220 230 240 250
TETEIVTSLC PMYGSRFGYA LSNGTVGVYD KTSRYWRIKS KNHAMSIHAF
260 270 280 290 300
DLNSDGVNEL ITGWSNGKVD ARSDRTGEVI FKDNFSSAIA GVVEGDYRMD
310 320 330 340 350
GHIQLICCSV DGEIRGYLPG TAEMRGNLMD TSAEQDLIRE LSQKKQNLLL
360 370 380 390 400
ELRNYEENAK AELASPLNEA DGHRGIIPAN TRLHTTLSVS LGNETQTAHT
410 420 430 440 450
ELRISTSNDT IIRAVLIFAE GIFTGESHVV HPSIHNLSSS ICIPIVPPKD
460 470 480 490 500
VPVDLHLKAF VGYRSSTQFH VFESTRQLPR FSMYALTSLD PASEPISYVN
510 520 530 540 550
FTIAERAQRV VVWLGQNFLL PEDTHIQNAP FQVCFTSLRN GGHLHIKIKL
560 570 580 590 600
SGEITINTDD IDLAGDIIQS MASFFAIEDL QVEADFPVYF EELRKVLVKV
610 620 630 640 650
DEYHSVHQKL SADMADHSNL IRSLLVGAED ARLMRDMKTM KSRYMELYDL
660 670 680 690 700
NRDLLNGYKI RCNNHTELLG NLKAVNQAIQ RAGRLRVGKP KNQVITACRD
710 720
AIRSNNINTL FKIMRVGTAS S
Length:721
Mass (Da):79,871
Last modified:June 1, 2001 - v1
Checksum:i8FA1CDAED725BEAF
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti63E → G in BAB55252 (PubMed:14702039).Curated1
Sequence conflicti169C → R in BAB55252 (PubMed:14702039).Curated1
Sequence conflicti457L → S in BAB55252 (PubMed:14702039).Curated1
Sequence conflicti648Y → H in BAB55252 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03888923R → P in BBS2. 1 Publication1
Natural variantiVAR_07572633A → D in RP74. 1 Publication1
Natural variantiVAR_01316270N → S in BBS2. 1 PublicationCorresponds to variant rs4784677dbSNPEnsembl.1
Natural variantiVAR_01316375V → G in BBS2; in linkage disequilibrium with V-123 in a Bedouin kindred. 1 Publication1
Natural variantiVAR_06628081G → C in BBS2. 1 Publication1
Natural variantiVAR_013164104D → A in BBS2 and RP74. 3 Publications1
Natural variantiVAR_029747122A → V.1 PublicationCorresponds to variant rs17856449dbSNPEnsembl.1
Natural variantiVAR_013165123I → V Polymorphism in linkage disequilibrium with G-75 in a Bedouin kindred. 3 PublicationsCorresponds to variant rs11373dbSNPEnsembl.1
Natural variantiVAR_066281125L → R in BBS2. 1 Publication1
Natural variantiVAR_075727134P → R in RP74. 1 Publication1
Natural variantiVAR_066282136A → P in BBS2. 1 Publication1
Natural variantiVAR_075728139G → V in BBS2. 1 Publication1
Natural variantiVAR_038890174D → E in BBS2. 1 Publication1
Natural variantiVAR_066283307C → W in BBS2. 1 Publication1
Natural variantiVAR_013166315R → Q in BBS2. 2 Publications1
Natural variantiVAR_013167315R → W in BBS2. 1 Publication1
Natural variantiVAR_066284317Y → C in BBS2. 1 Publication1
Natural variantiVAR_038891349L → W in BBS2; has a modifier effect on BBS. 1 Publication1
Natural variantiVAR_029748504A → V.Corresponds to variant rs16957538dbSNPEnsembl.1
Natural variantiVAR_013168558T → I in BBS2. 1 Publication1
Natural variantiVAR_066285629E → K in a patient with Bardet-Biedl syndrome compound heterozygote for mutations in BBS10; uncertain pathological role. 1 Publication1
Natural variantiVAR_013169632R → P in BBS2 and RP74. 3 Publications1
Natural variantiVAR_038892643R → H in BBS2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF342736 mRNA. Translation: AAK28552.1.
AK027635 mRNA. Translation: BAB55252.1.
BC014140 mRNA. Translation: AAH14140.1.
CCDSiCCDS32451.1.
RefSeqiNP_114091.3. NM_031885.3.
UniGeneiHs.333738.

Genome annotation databases

EnsembliENST00000245157; ENSP00000245157; ENSG00000125124.
GeneIDi583.
KEGGihsa:583.
UCSCiuc002ejd.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Mutations of the BBS2 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF342736 mRNA. Translation: AAK28552.1.
AK027635 mRNA. Translation: BAB55252.1.
BC014140 mRNA. Translation: AAH14140.1.
CCDSiCCDS32451.1.
RefSeqiNP_114091.3. NM_031885.3.
UniGeneiHs.333738.

3D structure databases

ProteinModelPortaliQ9BXC9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107059. 23 interactors.
DIPiDIP-46563N.
IntActiQ9BXC9. 38 interactors.
MINTiMINT-1454659.
STRINGi9606.ENSP00000245157.

PTM databases

iPTMnetiQ9BXC9.
PhosphoSitePlusiQ9BXC9.

Polymorphism and mutation databases

BioMutaiBBS2.
DMDMi20454827.

Proteomic databases

EPDiQ9BXC9.
MaxQBiQ9BXC9.
PaxDbiQ9BXC9.
PeptideAtlasiQ9BXC9.
PRIDEiQ9BXC9.

Protocols and materials databases

DNASUi583.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000245157; ENSP00000245157; ENSG00000125124.
GeneIDi583.
KEGGihsa:583.
UCSCiuc002ejd.3. human.

Organism-specific databases

CTDi583.
DisGeNETi583.
GeneCardsiBBS2.
GeneReviewsiBBS2.
HGNCiHGNC:967. BBS2.
HPAiHPA041315.
MalaCardsiBBS2.
MIMi606151. gene.
615981. phenotype.
616562. phenotype.
neXtProtiNX_Q9BXC9.
Orphaneti110. Bardet-Biedl syndrome.
PharmGKBiPA25276.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF6W. Eukaryota.
ENOG410XPDF. LUCA.
HOGENOMiHOG000007549.
HOVERGENiHBG031114.
InParanoidiQ9BXC9.
KOiK16747.
OrthoDBiEOG091G03EK.
PhylomeDBiQ9BXC9.
TreeFamiTF313236.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000125124-MONOMER.
ReactomeiR-HSA-5620922. BBSome-mediated cargo-targeting to cilium.

Miscellaneous databases

ChiTaRSiBBS2. human.
GeneWikiiBBS2.
GenomeRNAii583.
PROiQ9BXC9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000125124.
CleanExiHS_BBS2.
ExpressionAtlasiQ9BXC9. baseline and differential.
GenevisibleiQ9BXC9. HS.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR016616. Bardet-Biedl_syndrome_2_prot.
IPR029333. BBS2_C.
IPR029429. BBS2_Mid.
IPR029430. BBS2_N.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR017986. WD40_repeat_dom.
[Graphical view]
PANTHERiPTHR32465:SF0. PTHR32465:SF0. 1 hit.
PfamiPF14782. BBS2_C. 1 hit.
PF14783. BBS2_Mid. 1 hit.
PF14781. BBS2_N. 1 hit.
[Graphical view]
PIRSFiPIRSF013684. BBS2. 1 hit.
SUPFAMiSSF50978. SSF50978. 2 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiBBS2_HUMAN
AccessioniPrimary (citable) accession number: Q9BXC9
Secondary accession number(s): Q96CM0, Q96SN9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: June 1, 2001
Last modified: November 30, 2016
This is version 139 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.