Details for: BBS2

Gene ID: 583

Symbol: BBS2

Ensembl ID: ENSG00000125124

Description: Bardet-Biedl syndrome 2

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.53
    Marker Score: 53991
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.97
    Marker Score: 3447
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.89
    Marker Score: 2357
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 1.64
    Marker Score: 1080
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.58
    Marker Score: 28097
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.52
    Marker Score: 6192
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.49
    Marker Score: 55072
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.44
    Marker Score: 13517
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.44
    Marker Score: 12337
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.43
    Marker Score: 54458
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.43
    Marker Score: 5914
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.42
    Marker Score: 5499
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.42
    Marker Score: 13462
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.39
    Marker Score: 85598
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.37
    Marker Score: 2117
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.34
    Marker Score: 10270
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.34
    Marker Score: 26570
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.28
    Marker Score: 1377
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.27
    Marker Score: 13093
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.26
    Marker Score: 1093
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 1.25
    Marker Score: 3004
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.23
    Marker Score: 18326
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.16
    Marker Score: 334
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.08
    Marker Score: 1333
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.04
    Marker Score: 1500
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 1.03
    Marker Score: 2936
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 1.02
    Marker Score: 3520
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71744
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47969
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.99
    Marker Score: 580
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30399
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.95
    Marker Score: 8285
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2405
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 485
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.94
    Marker Score: 3620
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 440
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2717
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5295
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.87
    Marker Score: 4965
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 311
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.86
    Marker Score: 13500
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.85
    Marker Score: 371
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.83
    Marker Score: 1402
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.82
    Marker Score: 8251
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.81
    Marker Score: 3381
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.78
    Marker Score: 2089
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1263
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.77
    Marker Score: 310
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.77
    Marker Score: 588.5
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.76
    Marker Score: 223
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 0.74
    Marker Score: 1413
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.73
    Marker Score: 3077.5
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.73
    Marker Score: 377
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.72
    Marker Score: 781
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.71
    Marker Score: 1678
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.69
    Marker Score: 798
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.69
    Marker Score: 3196
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.68
    Marker Score: 624
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.68
    Marker Score: 767
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.68
    Marker Score: 321
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.67
    Marker Score: 666
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 172
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.67
    Marker Score: 837
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.66
    Marker Score: 1670
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.65
    Marker Score: 880
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.65
    Marker Score: 692
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.65
    Marker Score: 1769
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.65
    Marker Score: 1245
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.64
    Marker Score: 311
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.63
    Marker Score: 765
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.63
    Marker Score: 188
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.63
    Marker Score: 696
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.62
    Marker Score: 633
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.62
    Marker Score: 1359
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.61
    Marker Score: 354
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.61
    Marker Score: 643
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.6
    Marker Score: 772
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.59
    Marker Score: 310
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.59
    Marker Score: 558
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.58
    Marker Score: 823
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.58
    Marker Score: 133
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.58
    Marker Score: 317
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.57
    Marker Score: 3695
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.56
    Marker Score: 139
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.56
    Marker Score: 1974
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.55
    Marker Score: 205
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.55
    Marker Score: 585
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.55
    Marker Score: 2366
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.54
    Marker Score: 499
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.54
    Marker Score: 418
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.54
    Marker Score: 239
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 430
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.54
    Marker Score: 1324
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.54
    Marker Score: 3223
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.54
    Marker Score: 789
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.53
    Marker Score: 554
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.53
    Marker Score: 183
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.52
    Marker Score: 219
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.52
    Marker Score: 860
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.52
    Marker Score: 1081

Hover over a box to see details here...

Hover over a box to see details here...

Hover over a box to see details here...

Other Information

**Key characteristics:** * Located on chromosome 15q21.1 * Encodes a protein with a molecular weight of approximately 110 kDa * Expressed in a wide range of cell types, including astrocytes, neurons, and endothelial cells * Plays a role in the development and function of the cerebral cortex **Pathways and functions:** * Regulates the expression of other genes involved in brain development and function, including those involved in neural tube formation, gliogenesis, and synaptic plasticity * Plays a role in the regulation of adult behavior, including learning, memory, and attention * Inhibits the expression of genes involved in the development of the corpus callosum, a fiber tract that connects the two hemispheres of the brain * Modulates the activity of the mesocortical pathway, a neural circuit that is involved in higher-order cognitive functions **Clinical significance:** * Mutations in the BBS2 gene are associated with a variety of intellectual disabilities and psychiatric disorders, including autism, schizophrenia, and intellectual impairment * Understanding the role of BBS2 in brain development and function has important implications for the development of new treatments for these disorders **Other important points:** * BBS2 is a key regulator of the development of the cerebral cortex * Mutations in the BBS2 gene are associated with a variety of intellectual disabilities and psychiatric disorders * The protein encoded by BBS2 is a key regulator of the expression of other genes involved in brain development and function * Understanding the role of BBS2 in brain development and function has important implications for the development of new treatments for mental health disorders

Genular Protein ID: 3992601214

Symbol: BBS2_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9BXC9 Q96CM0 Q96SN9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 3 EPD 1 Ensembl 5 ExpressionAtlas 1 GO 35 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 2 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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. For the full schema, download it here.