Details for: BBS2

Gene ID: 583

Symbol: BBS2

Ensembl ID: ENSG00000125124

Description: Bardet-Biedl syndrome 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 181.1692
    Cell Significance Index: -28.1800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 108.5776
    Cell Significance Index: -27.5400
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 66.5619
    Cell Significance Index: -27.4200
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 57.4003
    Cell Significance Index: -27.1000
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 52.8483
    Cell Significance Index: -21.4700
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 48.5725
    Cell Significance Index: -24.9900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 23.1476
    Cell Significance Index: -28.5400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 22.4144
    Cell Significance Index: -21.4000
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 10.7148
    Cell Significance Index: -32.9100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 9.4630
    Cell Significance Index: -25.3500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 7.2604
    Cell Significance Index: -28.6500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 2.8367
    Cell Significance Index: 76.0100
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 1.8672
    Cell Significance Index: 26.1100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 1.8161
    Cell Significance Index: 80.3300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 1.6434
    Cell Significance Index: 62.2300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.4316
    Cell Significance Index: 287.1700
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.2691
    Cell Significance Index: 20.3600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.2278
    Cell Significance Index: 121.4600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.1413
    Cell Significance Index: 185.6300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.9958
    Cell Significance Index: 899.0900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.9242
    Cell Significance Index: 12.6100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.8743
    Cell Significance Index: 313.6000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.7971
    Cell Significance Index: 50.2400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.7055
    Cell Significance Index: 140.0100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.7019
    Cell Significance Index: 76.3500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.6658
    Cell Significance Index: 39.9700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.6441
    Cell Significance Index: 43.3100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.4841
    Cell Significance Index: 13.5300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.3970
    Cell Significance Index: 24.4000
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.3389
    Cell Significance Index: 4.0400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3365
    Cell Significance Index: 7.2900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3365
    Cell Significance Index: 23.2700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3115
    Cell Significance Index: 56.1600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.2641
    Cell Significance Index: 30.7800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.2625
    Cell Significance Index: 20.1500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.2197
    Cell Significance Index: 6.2700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2128
    Cell Significance Index: 116.2400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1977
    Cell Significance Index: 5.7000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1820
    Cell Significance Index: 80.4600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1800
    Cell Significance Index: 9.3500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1479
    Cell Significance Index: 18.1900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1090
    Cell Significance Index: 14.9800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1069
    Cell Significance Index: 20.3400
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.1030
    Cell Significance Index: 2.0100
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.0967
    Cell Significance Index: 2.3200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0785
    Cell Significance Index: 10.0600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0690
    Cell Significance Index: 3.8700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0504
    Cell Significance Index: 94.9300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0422
    Cell Significance Index: 26.7700
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.0399
    Cell Significance Index: 0.6900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0346
    Cell Significance Index: 1.5700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0252
    Cell Significance Index: 46.4600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0247
    Cell Significance Index: 37.9700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0241
    Cell Significance Index: 32.8200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0156
    Cell Significance Index: 0.4100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0018
    Cell Significance Index: -1.2900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0051
    Cell Significance Index: -2.3100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0083
    Cell Significance Index: -5.1900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0125
    Cell Significance Index: -1.8100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0137
    Cell Significance Index: -10.1700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0151
    Cell Significance Index: -8.5200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0241
    Cell Significance Index: -4.1200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0297
    Cell Significance Index: -22.4700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0482
    Cell Significance Index: -4.9200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0714
    Cell Significance Index: -1.5200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0717
    Cell Significance Index: -15.1000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0753
    Cell Significance Index: -21.6600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0817
    Cell Significance Index: -1.7900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0868
    Cell Significance Index: -4.0500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0939
    Cell Significance Index: -12.1300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0983
    Cell Significance Index: -11.2600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1304
    Cell Significance Index: -6.8500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1329
    Cell Significance Index: -15.6700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1502
    Cell Significance Index: -4.8100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.1652
    Cell Significance Index: -4.1300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1675
    Cell Significance Index: -2.8700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1742
    Cell Significance Index: -12.9800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1790
    Cell Significance Index: -6.2200
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1962
    Cell Significance Index: -4.0700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2017
    Cell Significance Index: -9.4800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.2063
    Cell Significance Index: -5.6200
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2218
    Cell Significance Index: -25.3200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.2225
    Cell Significance Index: -5.9400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2276
    Cell Significance Index: -16.1000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2478
    Cell Significance Index: -15.9900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2507
    Cell Significance Index: -26.1100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2615
    Cell Significance Index: -20.7100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3017
    Cell Significance Index: -15.7200
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3449
    Cell Significance Index: -7.3200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.3454
    Cell Significance Index: -5.7800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3654
    Cell Significance Index: -22.4000
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.3685
    Cell Significance Index: -4.5700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4206
    Cell Significance Index: -13.7700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4289
    Cell Significance Index: -13.6600
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.4820
    Cell Significance Index: -9.5300
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.5115
    Cell Significance Index: -10.2700
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.5123
    Cell Significance Index: -10.9500
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.5130
    Cell Significance Index: -7.7300
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.5160
    Cell Significance Index: -12.5900
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.5260
    Cell Significance Index: -8.3500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** BBS2 is a human gene that encodes a protein involved in the assembly and maintenance of cilia. It belongs to the BBSome complex, a multi-subunit protein complex that regulates ciliary function. BBS2 is highly expressed in various cell types, including astrocytes, neurons, and germ cells, suggesting its importance in maintaining cellular homeostasis. **Pathways and Functions:** BBS2 is involved in various cellular processes, including: 1. **Ciliary function:** BBS2 regulates cilia assembly, maintenance, and motility, which is essential for sensing the environment, cell signaling, and immune function. 2. **Cargo targeting:** BBS2 mediates the targeting of cargo proteins to the cilium, which is crucial for maintaining ciliary function and regulating cellular processes. 3. **Gene expression:** BBS2 regulates gene expression by modulating the activity of transcription factors, which is essential for maintaining cellular homeostasis. 4. **Immune function:** BBS2 is involved in regulating immune responses by modulating the activity of immune cells, such as T cells and macrophages. **Clinical Significance:** Dysregulation of BBS2 has been implicated in various diseases, including: 1. **Bardet-Biedl syndrome:** A ciliopathy characterized by obesity, polydactyly, and renal dysfunction. 2. **Immune dysregulation:** BBS2 mutations have been linked to immune disorders, including autoimmune diseases and immunodeficiency. 3. **Cancer:** BBS2 has been implicated in the development and progression of certain types of cancer, such as lung and breast cancer. **Implications for Immunology:** The study of BBS2 has significant implications for immunology, particularly in understanding the regulation of immune responses and the development of novel therapeutic strategies for immune-related diseases. Further research is needed to elucidate the mechanisms by which BBS2 regulates immune function and to explore its potential as a therapeutic target. In conclusion, BBS2 is a gene that plays a critical role in regulating ciliary function, gene expression, and immune function. Its dysregulation has been implicated in various diseases, including Bardet-Biedl syndrome and immune-related disorders. Further research is needed to fully understand the mechanisms by which BBS2 regulates immune function and to explore its potential as a therapeutic target.

Genular Protein ID: 3992601214

Symbol: BBS2_HUMAN

Name: N/A

UniProtKB Accession Codes:

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

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.