Bbs2 | ENSMUSG00000031755 | NCBI 67378

Details for: Bbs2

Gene ID: 67378

Symbol: Bbs2

Ensembl ID: ENSMUSG00000031755

Description: Bardet-Biedl syndrome 2

Associated with

Bbsome-mediated cargo-targeting to cilium
(R-MMU-5620922)
Cargo trafficking to the periciliary membrane
(R-MMU-5620920)
Organelle biogenesis and maintenance
(R-MMU-1852241)
Adult behavior
(GO:0030534)
Artery smooth muscle contraction
(GO:0014824)
Bbsome
(GO:0034464)
Brain morphogenesis
(GO:0048854)
Cartilage development
(GO:0051216)
Cell projection
(GO:0042995)
Cell projection organization
(GO:0030030)
Cerebral cortex development
(GO:0021987)
Ciliary basal body
(GO:0036064)
Ciliary membrane
(GO:0060170)
Cilium
(GO:0005929)
Cilium assembly
(GO:0060271)
Cytoplasm
(GO:0005737)
Cytoskeleton
(GO:0005856)
Fat cell differentiation
(GO:0045444)
Gene expression
(GO:0010467)
Golgi to plasma membrane protein transport
(GO:0043001)
Hippocampus development
(GO:0021766)
Leptin-mediated signaling pathway
(GO:0033210)
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)
Plasma membrane
(GO:0005886)
Positive regulation of multicellular organism growth
(GO:0040018)
Protein binding
(GO:0005515)
Protein localization
(GO:0008104)
Protein localization to organelle
(GO:0033365)
Protein transport
(GO:0015031)
Regulation of cilium beat frequency involved in ciliary motility
(GO:0060296)
Response to leptin
(GO:0044321)
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

Bardet-Biedl syndrome 2 protein homolog

Genular Protein ID: 59300940

Symbol: BBS2_MOUSE

Name: Bardet-Biedl syndrome 2 protein homolog

UniProtKB Accession Codes:

Q9CWF6

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: 16141072

Title: The transcriptional landscape of the mammalian genome.

PubMed ID: 16141072

DOI: 10.1126/science.1112014

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: 21183079

Title: A tissue-specific atlas of mouse protein phosphorylation and expression.

PubMed ID: 21183079

DOI: 10.1016/j.cell.2010.12.001

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: 18317593

Title: Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome.

PubMed ID: 18317593

DOI: 10.1172/jci32357

Sequence Information:

Length: 721
Mass: 79932
Checksum: C91D9B7834B614F4
Sequence:

MLLPVFTLKL RHKISPRMVA IGRYDGTHPC LAAATQAGKV FIHNPHTRSQ HFSASRVFQS 
PLESDVSLLN INQTVSCLGS GVLNPELGYD TLLVGTQTSL LAYDIYNNSD LFYREVSDGA 
NAIVLGTLGD IAPPLAIIGG NCALQGFDHE GNDLFWTVTG DNVHSLALCD FDGDGKTELL 
VGSEDFDIRV FKEDEIVAEM TETEIVTSLC PMYGSRFGYA LSNGTVGVYD KTARYWRIKS 
KNHAMSIHAF DINSDGVCEL ITGWSNGKVD ARSDRTGEVI FKDNFSSAVA GVVEGDYRMD 
GHVQLICCSV DGEIRGYLPG TAEMKGNLLD TSVEQDLIRE LSQKKQNLLL ELRNYEESTK 
AELSSPLNEA DGQKGIIPAN TRLHTALSVN MGNDLQDAHA ELGISTSNDT IIRAVLIFAE 
GIFVGESHVV HPSIHNLSSS LRVPITPPKD VPVDLHLKTF VGYRSSTQFH VFELTRQLPR 
FTMYALTSPD AASEPVSYVN FSVAERTQRM VTWLNQNFLL PEDSNVQNSP FHVCFTSLRN 
GGQLYIKMKQ SGEITVNTDD IDLAGDIIQS IASFFAIEDL QVEADFPVYF EELRKVLVKV 
DEYHSVHQKL SADMADNSNL IRSLLVRAED ARLMRDMKTM KSRYMELYDL NKDLLNGYKI 
RCNNHTELLG NLKAVNQAIQ RAGRLRVGKP KNQVISACRD AIRSNNINTL FRIMRVGTAP 
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

The transcriptional landscape of the mammalian genome. PubMed ID: 16141072

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

A tissue-specific atlas of mouse protein phosphorylation and expression. PubMed ID: 21183079

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