Details for: BBS2
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
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.
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.
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
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
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
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
PubMed ID: 22072986
Title: A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened.
PubMed ID: 22072986
PubMed ID: 33144677
Title: Dlec1 is required for spermatogenesis and male fertility in mice.
PubMed ID: 33144677
PubMed ID: 25541840
Title: Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.
PubMed ID: 25541840
PubMed ID: 11567139
Title: Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.
PubMed ID: 11567139
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
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
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.