Details for: BBS4

Gene ID: 585

Symbol: BBS4

Ensembl ID: ENSG00000140463

Description: Bardet-Biedl syndrome 4

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: 146.3883
    Cell Significance Index: -22.7700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 91.3093
    Cell Significance Index: -23.1600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 47.9745
    Cell Significance Index: -19.4900
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 20.1415
    Cell Significance Index: -19.2300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 19.1653
    Cell Significance Index: -23.6300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 8.3002
    Cell Significance Index: -22.2400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.0314
    Cell Significance Index: -23.8000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 5.2180
    Cell Significance Index: -11.4200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 5.0448
    Cell Significance Index: -15.5000
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 2.1907
    Cell Significance Index: 26.1200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 2.0933
    Cell Significance Index: 398.3800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.8819
    Cell Significance Index: 118.6100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8400
    Cell Significance Index: 758.4400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.7873
    Cell Significance Index: 156.2400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.5471
    Cell Significance Index: 109.7500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.5429
    Cell Significance Index: 59.0500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5263
    Cell Significance Index: 85.5900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.5212
    Cell Significance Index: 13.9700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5160
    Cell Significance Index: 51.0500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.5053
    Cell Significance Index: 349.5000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.4731
    Cell Significance Index: 26.5500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.4671
    Cell Significance Index: 167.5600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.4579
    Cell Significance Index: 27.4900
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.3843
    Cell Significance Index: 6.1700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.3789
    Cell Significance Index: 9.7400
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.3751
    Cell Significance Index: 7.3200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3124
    Cell Significance Index: 170.6400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.2656
    Cell Significance Index: 20.3800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.2473
    Cell Significance Index: 15.2000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2414
    Cell Significance Index: 16.7000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2198
    Cell Significance Index: 30.1800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.2047
    Cell Significance Index: 10.7500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.2004
    Cell Significance Index: 5.0100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1956
    Cell Significance Index: 35.2600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1658
    Cell Significance Index: 21.2600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1603
    Cell Significance Index: 4.4800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1524
    Cell Significance Index: 4.3900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1344
    Cell Significance Index: 6.0900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1333
    Cell Significance Index: 58.9200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1146
    Cell Significance Index: 14.0900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0973
    Cell Significance Index: 61.8100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0957
    Cell Significance Index: 180.2300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0807
    Cell Significance Index: 124.1800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0737
    Cell Significance Index: 135.9100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0668
    Cell Significance Index: 3.4700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0642
    Cell Significance Index: 29.1300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0428
    Cell Significance Index: 58.1700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0319
    Cell Significance Index: 5.4500
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.0033
    Cell Significance Index: -0.0700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0059
    Cell Significance Index: -3.7100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0065
    Cell Significance Index: -4.7700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0070
    Cell Significance Index: -5.2200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0245
    Cell Significance Index: -1.6500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0246
    Cell Significance Index: -18.5900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0296
    Cell Significance Index: -16.7200
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0411
    Cell Significance Index: -0.8600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0517
    Cell Significance Index: -10.8800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0616
    Cell Significance Index: -8.9500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0681
    Cell Significance Index: -19.5800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0730
    Cell Significance Index: -7.4600
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0792
    Cell Significance Index: -1.9000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0799
    Cell Significance Index: -9.3100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0807
    Cell Significance Index: -2.8100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0914
    Cell Significance Index: -10.4700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1038
    Cell Significance Index: -4.8400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1061
    Cell Significance Index: -12.5100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1074
    Cell Significance Index: -1.8400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1131
    Cell Significance Index: -8.0000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1144
    Cell Significance Index: -1.9200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1311
    Cell Significance Index: -2.8700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1379
    Cell Significance Index: -17.8200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1458
    Cell Significance Index: -10.8700
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1520
    Cell Significance Index: -17.3500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1766
    Cell Significance Index: -18.3900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1919
    Cell Significance Index: -9.0200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.1920
    Cell Significance Index: -2.6200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1965
    Cell Significance Index: -8.6900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2001
    Cell Significance Index: -12.9100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2214
    Cell Significance Index: -11.5300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2218
    Cell Significance Index: -6.3300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2229
    Cell Significance Index: -7.1400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.2324
    Cell Significance Index: -4.9500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2356
    Cell Significance Index: -8.9200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2439
    Cell Significance Index: -19.3200
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.2488
    Cell Significance Index: -3.5700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.2539
    Cell Significance Index: -5.5000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2677
    Cell Significance Index: -16.4200
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.2805
    Cell Significance Index: -6.4800
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.2953
    Cell Significance Index: -4.3600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.3155
    Cell Significance Index: -8.4300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.3268
    Cell Significance Index: -8.9000
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.3375
    Cell Significance Index: -5.3600
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: -0.3677
    Cell Significance Index: -5.1700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.3755
    Cell Significance Index: -9.8800
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.3796
    Cell Significance Index: -5.4400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3982
    Cell Significance Index: -11.7300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.4116
    Cell Significance Index: -20.8000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4179
    Cell Significance Index: -13.3100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4194
    Cell Significance Index: -13.7300
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.4448
    Cell Significance Index: -9.4400

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:** BBS4 is a gene located on chromosome 2q31.1, encoding a protein of unknown function. The protein product, BBS4, is a member of the BBSome complex, a multiprotein structure essential for the assembly and maintenance of primary cilia. Primary cilia are non-motile cilia that play a crucial role in sensing the extracellular environment, regulating cellular signaling, and maintaining tissue homeostasis. BBS4 has been shown to interact with various proteins, including alpha-tubulin, beta-tubulin, and dynactin, highlighting its central role in regulating microtubule dynamics and cargo targeting to cilia. **Pathways and Functions:** BBS4 is involved in various signaling pathways, including: 1. **Cilia assembly and maintenance:** BBS4 regulates the assembly and maintenance of primary cilia, ensuring proper function and localization of cilia to specific cellular contexts. 2. **Cargo targeting to cilia:** BBS4 interacts with cargo proteins, facilitating their targeting to cilia and enabling the regulation of ciliary signaling and function. 3. **Signaling pathways:** BBS4 regulates various signaling pathways, including those involved in cellular development, growth, and differentiation. 4. **Microtubule organization:** BBS4 interacts with microtubule-associated proteins, regulating microtubule dynamics and cytoskeleton organization. **Clinical Significance:** BBS4 mutations have been associated with Bardet-Biedl syndrome, a disorder characterized by: 1. **Obesity and metabolic disorders:** BBS4 mutations lead to impaired insulin signaling and glucose metabolism, contributing to obesity and metabolic disorders. 2. **Intellectual disability:** BBS4 mutations have been linked to cognitive impairment and intellectual disability. 3. **Retinitis pigmentosa:** BBS4 mutations can cause retinal degeneration, leading to visual impairment and blindness. 4. **Polydactyly and renal abnormalities:** BBS4 mutations can also lead to polydactyly and renal abnormalities, highlighting the gene's role in tissue development and patterning. In conclusion, BBS4 is a gene that plays a critical role in regulating cilia formation, cargo targeting, and signaling pathways. Its dysfunction can lead to a range of clinical disorders, including Bardet-Biedl syndrome. Further research into the mechanisms underlying BBS4 function and its interactions with other proteins will provide valuable insights into the development of novel therapeutic strategies for these disorders.

Genular Protein ID: 3787677986

Symbol: BBS4_HUMAN

Name: Bardet-Biedl syndrome 4 protein

UniProtKB Accession Codes:

Q96RK4 B4E178 Q53DZ5 Q8NHU9 Q96H45

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 7 EMDB 1 Ensembl 2 ExpressionAtlas 1 GO 69 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 1 RefSeq 9 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 11381270

Title: Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

PubMed ID: 11381270

DOI: 10.1038/88925

PubMed ID: 15497446

Title: Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4).

PubMed ID: 15497446

DOI: 10.1080/10425170410001679165

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16572171

Title: Analysis of the DNA sequence and duplication history of human chromosome 15.

PubMed ID: 16572171

DOI: 10.1038/nature04601

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: 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: 23943788

Title: BBS mutations modify phenotypic expression of CEP290-related ciliopathies.

PubMed ID: 23943788

DOI: 10.1093/hmg/ddt394

PubMed ID: 24939912

Title: Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.

PubMed ID: 24939912

DOI: 10.1093/hmg/ddu267

PubMed ID: 15107855

Title: The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression.

PubMed ID: 15107855

DOI: 10.1038/ng1352

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: 12016587

Title: BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.

PubMed ID: 12016587

DOI: 10.1086/341031

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: 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: 519
  • Mass: 58282
  • Checksum: 59BC9B29355C8E3C
  • Sequence:
    • MAEERVATRT QFPVSTESQK PRQKKAPEFP ILEKQNWLIH LHYIRKDYEA CKAVIKEQLQ 
ETQGLCEYAI YVQALIFRLE GNIQESLELF QTCAVLSPQS ADNLKQVARS LFLLGKHKAA 
IEVYNEAAKL NQKDWEISHN LGVCYIYLKQ FNKAQDQLHN ALNLNRHDLT YIMLGKIHLL 
EGDLDKAIEV YKKAVEFSPE NTELLTTLGL LYLQLGIYQK AFEHLGNALT YDPTNYKAIL 
AAGSMMQTHG DFDVALTKYR VVACAVPESP PLWNNIGMCF FGKKKYVAAI SCLKRANYLA 
PFDWKILYNL GLVHLTMQQY ASAFHFLSAA INFQPKMGEL YMLLAVALTN LEDIENAKRA 
YAEAVHLDKC NPLVNLNYAV LLYNQGEKKN ALAQYQEMEK KVSLLKDNSS LEFDSEMVEM 
AQKLGAALQV GEALVWTKPV KDPKSKHQTT STSKPASFQQ PLGSNQALGQ AMSSAAAYRT 
LPSGAGGTSQ FTKPPSLPLE PEPAVESSPT ETSEQIREK

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.