BBS2 | ENSG00000125124 | NCBI 583

Details for: BBS2

Gene ID: 583

Symbol: BBS2

Ensembl ID: ENSG00000125124

Description: Bardet-Biedl syndrome 2

Associated with

Bbsome-mediated cargo-targeting to cilium
(R-HSA-5620922)
Cargo trafficking to the periciliary membrane
(R-HSA-5620920)
Organelle biogenesis and maintenance
(R-HSA-1852241)
Adult behavior
(GO:0030534)
Artery smooth muscle contraction
(GO:0014824)
Bbsome
(GO:0034464)
Brain morphogenesis
(GO:0048854)
Cartilage development
(GO:0051216)
Centriolar satellite
(GO:0034451)
Cerebral cortex development
(GO:0021987)
Ciliary basal body
(GO:0036064)
Ciliary membrane
(GO:0060170)
Cilium assembly
(GO:0060271)
Cytosol
(GO:0005829)
Fat cell differentiation
(GO:0045444)
Gene expression
(GO:0010467)
Golgi to plasma membrane protein transport
(GO:0043001)
Hippocampus development
(GO:0021766)
Melanosome transport
(GO:0032402)
Membrane
(GO:0016020)
Microvillus
(GO:0005902)
Motile cilium
(GO:0031514)
Negative regulation of appetite by leptin-mediated signaling pathway
(GO:0038108)
Negative regulation of gene expression
(GO:0010629)
Negative regulation of multicellular organism growth
(GO:0040015)
Neuron projection
(GO:0043005)
Non-motile cilium assembly
(GO:1905515)
Photoreceptor cell maintenance
(GO:0045494)
Positive regulation of multicellular organism growth
(GO:0040018)
Protein binding
(GO:0005515)
Protein localization
(GO:0008104)
Protein localization to organelle
(GO:0033365)
Regulation of cilium beat frequency involved in ciliary motility
(GO:0060296)
Rna polymerase ii-specific dna-binding transcription factor binding
(GO:0061629)
Sperm axoneme assembly
(GO:0007288)
Stereocilium
(GO:0032420)
Striatum development
(GO:0021756)
Vasodilation
(GO:0042311)
Visual perception
(GO:0007601)

Other Information

Proteins

BBS2_HUMAN

Genular Protein ID: 3992601214

Symbol: BBS2_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9BXC9 Q96CM0 Q96SN9

Database IDs:

Citations:

PubMed ID: 11285252

Title: Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

PubMed ID: 11285252

DOI: 10.1093/hmg/10.8.865

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 16823392

Title: Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.

PubMed ID: 16823392

DOI: 10.1038/sj.ejhg.5201688

PubMed ID: 16327777

Title: Dissection of epistasis in oligogenic Bardet-Biedl syndrome.

PubMed ID: 16327777

DOI: 10.1038/nature04370

PubMed ID: 17574030

Title: A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.

PubMed ID: 17574030

DOI: 10.1016/j.cell.2007.03.053

PubMed ID: 18000879

Title: Novel interaction partners of Bardet-Biedl syndrome proteins.

PubMed ID: 18000879

DOI: 10.1002/cm.20250

PubMed ID: 20080638

Title: BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.

PubMed ID: 20080638

DOI: 10.1073/pnas.0910268107

PubMed ID: 22072986

Title: A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened.

PubMed ID: 22072986

DOI: 10.1371/journal.pgen.1002358

PubMed ID: 33144677

Title: Dlec1 is required for spermatogenesis and male fertility in mice.

PubMed ID: 33144677

DOI: 10.1038/s41598-020-75957-y

PubMed ID: 25541840

Title: Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.

PubMed ID: 25541840

DOI: 10.1001/jamaophthalmol.2014.5251

PubMed ID: 11567139

Title: Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

PubMed ID: 11567139

DOI: 10.1126/science.1063525

PubMed ID: 12677556

Title: Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

PubMed ID: 12677556

DOI: 10.1086/375178

PubMed ID: 12872256

Title: Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique.

PubMed ID: 12872256

DOI: 10.1002/humu.10241

PubMed ID: 12920096

Title: Further support for digenic inheritance in Bardet-Biedl syndrome.

PubMed ID: 12920096

DOI: 10.1136/jmg.40.8.e104

PubMed ID: 15666242

Title: Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

PubMed ID: 15666242

DOI: 10.1086/428679

PubMed ID: 15770229

Title: Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.

PubMed ID: 15770229

DOI: 10.1038/sj.ejhg.5201372

PubMed ID: 20120035

Title: Bardet-Biedl syndrome in Denmark -- report of 13 novel sequence variations in six genes.

PubMed ID: 20120035

DOI: 10.1002/humu.21204

PubMed ID: 21344540

Title: BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

PubMed ID: 21344540

DOI: 10.1002/humu.21480

Sequence Information:

Length: 721
Mass: 79844
Checksum: EF97CAA28709A089
Sequence:

MLLPVFTLKL RHKISPRMVA IGRYDGTHPC LAAATQTGKV FIHNPHTRNQ HVSASRVFQS 
PLESDVSLLS INQAVSCLTA GVLNPELGYD ALLVGTQTNL LAYDVYNNSD LFYREVADGA 
NAIVLGTLGD ISSPLAIIGG NCALQGFNHE GSDLFWTVTG DNVNSLALCD FDGDGKKELL 
VGSEDFDIRV FKEDEIVAEM TETEIVTSLC PMYGSRFGYA LSNGTVGVYD KTSRYWRIKS 
KNHAMSIHAF DLNSDGVNEL ITGWSNGKVD ARSDRTGEVI FKDNFSSAIA GVVEGDYRMD 
GHIQLICCSV DGEIRGYLPG TAEMRGNLMD TSAEQDLIRE LSQKKQNLLL ELRNYEENAK 
AELASPLNEA DGHRGIIPAN TRLHTTLSVS LGNETQTAHT ELRISTSNDT IIRAVLIFAE 
GIFTGESHVV HPSIHNLSSS ICIPIVPPKD VPVDLHLKAF VGYRSSTQFH VFESTRQLPR 
FSMYALTSLD PASEPISYVN FTIAERAQRV VVWLGQNFLL PEDTHIQNAP FQVCFTSLRN 
GGHLHIKIKL SGEITINTDD IDLAGDIIQS MASFFAIEDL QVEADFPVYF EELRKVLVKV 
DEYHSVHQKL SADMADHSNL IRSLLVGAED ARLMRDMKTM KSRYMELYDL NRDLLNGYKI 
RCNNHTELLG NLKAVNQAIQ RAGRLRVGKP KNQVITACRD AIRSNNINTL FKIMRVGTAS 
S

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: BBS2

Associated with

Other Information

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). PubMed ID: 11285252

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism. PubMed ID: 16823392

Dissection of epistasis in oligogenic Bardet-Biedl syndrome. PubMed ID: 16327777

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. PubMed ID: 17574030

Novel interaction partners of Bardet-Biedl syndrome proteins. PubMed ID: 18000879

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. PubMed ID: 20080638

A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened. PubMed ID: 22072986

Dlec1 is required for spermatogenesis and male fertility in mice. PubMed ID: 33144677

Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. PubMed ID: 25541840

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. PubMed ID: 11567139

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. PubMed ID: 12677556

Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique. PubMed ID: 12872256

Further support for digenic inheritance in Bardet-Biedl syndrome. PubMed ID: 12920096

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. PubMed ID: 15666242

Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. PubMed ID: 15770229

Bardet-Biedl syndrome in Denmark -- report of 13 novel sequence variations in six genes. PubMed ID: 20120035

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. PubMed ID: 21344540