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Entry version 162 (18 Sep 2019)
Sequence version 1 (01 Jun 2001)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCilium biogenesis/degradation, Protein transport, Sensory transduction, Transport, Vision

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5620922 BBSome-mediated cargo-targeting to cilium

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Bardet-Biedl syndrome 2 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:BBS2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:967 BBS2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606151 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9BXC9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_03888923R → P in BBS2. 1 Publication1
Natural variantiVAR_01316270N → S in BBS2. 1 PublicationCorresponds to variant dbSNP:rs4784677EnsemblClinVar.1
Natural variantiVAR_01316375V → G in BBS2; in linkage disequilibrium with V-123 in a Bedouin kindred. 1 PublicationCorresponds to variant dbSNP:rs121908174EnsemblClinVar.1
Natural variantiVAR_06628081G → C in BBS2. 1 PublicationCorresponds to variant dbSNP:rs750506474EnsemblClinVar.1
Natural variantiVAR_013164104D → A in BBS2 and RP74. 3 PublicationsCorresponds to variant dbSNP:rs121908179EnsemblClinVar.1
Natural variantiVAR_066281125L → R in BBS2. 1 Publication1
Natural variantiVAR_066282136A → P in BBS2. 1 Publication1
Natural variantiVAR_075728139G → V in BBS2. 1 PublicationCorresponds to variant dbSNP:rs121908181EnsemblClinVar.1
Natural variantiVAR_038890174D → E in BBS2. 1 PublicationCorresponds to variant dbSNP:rs767373822EnsemblClinVar.1
Natural variantiVAR_066283307C → W in BBS2. 1 Publication1
Natural variantiVAR_013166315R → Q in BBS2. 2 PublicationsCorresponds to variant dbSNP:rs544773389EnsemblClinVar.1
Natural variantiVAR_013167315R → W in BBS2. 1 PublicationCorresponds to variant dbSNP:rs121908178EnsemblClinVar.1
Natural variantiVAR_066284317Y → C in BBS2. 1 Publication1
Natural variantiVAR_038891349L → W in BBS2; has a modifier effect on BBS. 1 PublicationCorresponds to variant dbSNP:rs752280639EnsemblClinVar.1
Natural variantiVAR_013168558T → I in BBS2. 1 PublicationCorresponds to variant dbSNP:rs370581600Ensembl.1
Natural variantiVAR_013169632R → P in BBS2 and RP74. 3 PublicationsCorresponds to variant dbSNP:rs138043021EnsemblClinVar.1
Natural variantiVAR_038892643R → H in BBS2. 1 PublicationCorresponds to variant dbSNP:rs532361142EnsemblClinVar.1
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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07572633A → D in RP74. 1 PublicationCorresponds to variant dbSNP:rs797045155EnsemblClinVar.1
Natural variantiVAR_013164104D → A in BBS2 and RP74. 3 PublicationsCorresponds to variant dbSNP:rs121908179EnsemblClinVar.1
Natural variantiVAR_075727134P → R in RP74. 1 PublicationCorresponds to variant dbSNP:rs376306240EnsemblClinVar.1
Natural variantiVAR_013169632R → P in BBS2 and RP74. 3 PublicationsCorresponds to variant dbSNP:rs138043021EnsemblClinVar.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNET

More...
DisGeNETi
583

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
BBS2

MalaCards human disease database

More...
MalaCardsi
BBS2
MIMi615981 phenotype
616562 phenotype

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
110 Bardet-Biedl syndrome
791 Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA25276

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9BXC9

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
BBS2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
20454827

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000648431 – 721Bardet-Biedl syndrome 2 proteinAdd BLAST721

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9BXC9

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9BXC9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9BXC9

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9BXC9

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9BXC9

PeptideAtlas

More...
PeptideAtlasi
Q9BXC9

PRoteomics IDEntifications database

More...
PRIDEi
Q9BXC9

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
79404

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9BXC9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9BXC9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000125124 Expressed in 199 organ(s), highest expression level in adrenal tissue

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9BXC9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9BXC9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA041315

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
107059, 30 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...
ComplexPortali
CPX-1908 BBSome complex

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9BXC9

Database of interacting proteins

More...
DIPi
DIP-46563N

Protein interaction database and analysis system

More...
IntActi
Q9BXC9, 47 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000245157

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili325 – 369Sequence analysisAdd BLAST45

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IF6W Eukaryota
ENOG410XPDF LUCA

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000007549

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9BXC9

KEGG Orthology (KO)

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KOi
K16747

Database of Orthologous Groups

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OrthoDBi
327831at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9BXC9

TreeFam database of animal gene trees

More...
TreeFami
TF313236

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.130.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR016616 Bardet-Biedl_syndrome_2_prot
IPR029333 BBS2_C
IPR029429 BBS2_Mid
IPR029430 BBS2_N
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR036322 WD40_repeat_dom_sf

The PANTHER Classification System

More...
PANTHERi
PTHR32465 PTHR32465, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF14782 BBS2_C, 1 hit
PF14783 BBS2_Mid, 1 hit
PF14781 BBS2_N, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF013684 BBS2, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF50978 SSF50978, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i8FA1CDAED725BEAF
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BRL0H3BRL0_HUMAN
Bardet-Biedl syndrome 2 protein hom...
BBS2
675Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BNS7H3BNS7_HUMAN
Bardet-Biedl syndrome 2 protein
BBS2
76Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BQ79H3BQ79_HUMAN
Bardet-Biedl syndrome 2 protein
BBS2
119Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3QLW0J3QLW0_HUMAN
Bardet-Biedl syndrome 2 protein
BBS2
142Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3QKP7J3QKP7_HUMAN
Bardet-Biedl syndrome 2 protein
BBS2
85Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 PublicationCorresponds to variant dbSNP:rs797045155EnsemblClinVar.1
Natural variantiVAR_01316270N → S in BBS2. 1 PublicationCorresponds to variant dbSNP:rs4784677EnsemblClinVar.1
Natural variantiVAR_01316375V → G in BBS2; in linkage disequilibrium with V-123 in a Bedouin kindred. 1 PublicationCorresponds to variant dbSNP:rs121908174EnsemblClinVar.1
Natural variantiVAR_06628081G → C in BBS2. 1 PublicationCorresponds to variant dbSNP:rs750506474EnsemblClinVar.1
Natural variantiVAR_013164104D → A in BBS2 and RP74. 3 PublicationsCorresponds to variant dbSNP:rs121908179EnsemblClinVar.1
Natural variantiVAR_029747122A → V1 PublicationCorresponds to variant dbSNP:rs17856449EnsemblClinVar.1
Natural variantiVAR_013165123I → V Polymorphism in linkage disequilibrium with G-75 in a Bedouin kindred. 3 PublicationsCorresponds to variant dbSNP:rs11373EnsemblClinVar.1
Natural variantiVAR_066281125L → R in BBS2. 1 Publication1
Natural variantiVAR_075727134P → R in RP74. 1 PublicationCorresponds to variant dbSNP:rs376306240EnsemblClinVar.1
Natural variantiVAR_066282136A → P in BBS2. 1 Publication1
Natural variantiVAR_075728139G → V in BBS2. 1 PublicationCorresponds to variant dbSNP:rs121908181EnsemblClinVar.1
Natural variantiVAR_038890174D → E in BBS2. 1 PublicationCorresponds to variant dbSNP:rs767373822EnsemblClinVar.1
Natural variantiVAR_066283307C → W in BBS2. 1 Publication1
Natural variantiVAR_013166315R → Q in BBS2. 2 PublicationsCorresponds to variant dbSNP:rs544773389EnsemblClinVar.1
Natural variantiVAR_013167315R → W in BBS2. 1 PublicationCorresponds to variant dbSNP:rs121908178EnsemblClinVar.1
Natural variantiVAR_066284317Y → C in BBS2. 1 Publication1
Natural variantiVAR_038891349L → W in BBS2; has a modifier effect on BBS. 1 PublicationCorresponds to variant dbSNP:rs752280639EnsemblClinVar.1
Natural variantiVAR_029748504A → V. Corresponds to variant dbSNP:rs16957538EnsemblClinVar.1
Natural variantiVAR_013168558T → I in BBS2. 1 PublicationCorresponds to variant dbSNP:rs370581600Ensembl.1
Natural variantiVAR_066285629E → K in a patient with Bardet-Biedl syndrome compound heterozygote for mutations in BBS10; uncertain pathological role. 1 PublicationCorresponds to variant dbSNP:rs746505864EnsemblClinVar.1
Natural variantiVAR_013169632R → P in BBS2 and RP74. 3 PublicationsCorresponds to variant dbSNP:rs138043021EnsemblClinVar.1
Natural variantiVAR_038892643R → H in BBS2. 1 PublicationCorresponds to variant dbSNP:rs532361142EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF342736 mRNA Translation: AAK28552.1
AK027635 mRNA Translation: BAB55252.1
BC014140 mRNA Translation: AAH14140.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS32451.1

NCBI Reference Sequences

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RefSeqi
NP_114091.3, NM_031885.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000245157; ENSP00000245157; ENSG00000125124

Database of genes from NCBI RefSeq genomes

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GeneIDi
583

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:583

UCSC genome browser

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UCSCi
uc002ejd.3 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi107059, 30 interactors
ComplexPortaliCPX-1908 BBSome complex
CORUMiQ9BXC9
DIPiDIP-46563N
IntActiQ9BXC9, 47 interactors
STRINGi9606.ENSP00000245157

PTM databases

iPTMnetiQ9BXC9
PhosphoSitePlusiQ9BXC9

Polymorphism and mutation databases

BioMutaiBBS2
DMDMi20454827

Proteomic databases

EPDiQ9BXC9
jPOSTiQ9BXC9
MassIVEiQ9BXC9
MaxQBiQ9BXC9
PaxDbiQ9BXC9
PeptideAtlasiQ9BXC9
PRIDEiQ9BXC9
ProteomicsDBi79404

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
583

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
583
DisGeNETi583

GeneCards: human genes, protein and diseases

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GeneCardsi
BBS2
GeneReviewsiBBS2
HGNCiHGNC:967 BBS2
HPAiHPA041315
MalaCardsiBBS2
MIMi606151 gene
615981 phenotype
616562 phenotype
neXtProtiNX_Q9BXC9
Orphaneti110 Bardet-Biedl syndrome
791 Retinitis pigmentosa
PharmGKBiPA25276

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IF6W Eukaryota
ENOG410XPDF LUCA
HOGENOMiHOG000007549
InParanoidiQ9BXC9
KOiK16747
OrthoDBi327831at2759
PhylomeDBiQ9BXC9
TreeFamiTF313236

Enzyme and pathway databases

ReactomeiR-HSA-5620922 BBSome-mediated cargo-targeting to cilium

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
BBS2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
BBS2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
583
PharosiQ9BXC9

Protein Ontology

More...
PROi
PR:Q9BXC9

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000125124 Expressed in 199 organ(s), highest expression level in adrenal tissue
ExpressionAtlasiQ9BXC9 baseline and differential
GenevisibleiQ9BXC9 HS

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR016616 Bardet-Biedl_syndrome_2_prot
IPR029333 BBS2_C
IPR029429 BBS2_Mid
IPR029430 BBS2_N
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR036322 WD40_repeat_dom_sf
PANTHERiPTHR32465 PTHR32465, 1 hit
PfamiView protein in Pfam
PF14782 BBS2_C, 1 hit
PF14783 BBS2_Mid, 1 hit
PF14781 BBS2_N, 1 hit
PIRSFiPIRSF013684 BBS2, 1 hit
SUPFAMiSSF50978 SSF50978, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiBBS2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9BXC9
Secondary accession number(s): Q96CM0, Q96SN9
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: June 1, 2001
Last modified: September 18, 2019
This is version 162 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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