Gene info: ID 585

Gene: BBS4

GENE ID: 585

Synonyms: -

Description: Bardet-Biedl syndrome 4

Gene type: protein-coding

Location: 15q24.1

dbXrefs: Ensembl:ENSG00000140463 MIM:600374 Vega:OTTHUMG00000133510 UniprotKB:Q96RK4

RefSeq: NG_009416.2

Retrived from: SNP Mapped

SNPs: 1 ANCO-SNPs

Phenotype: AD

# Publications: 0

Sherlock p-value : NA (AD) NA (ND) (Frontal_Cortex)

Pascal p-value : 2.346e-1 (AD) 3.875e-1 (ND)

ANCO-SNPs

SNP ID	Position	Alleles	Trait	Variation Type
rs36057641	chr15:72730279-72730292 (GRCh38.p7)	delAA / delA	alcohol dependence	Indel(Insertion and Deletion)

DNA Methylation

There is no related methylation information for this gene.

Gene Expression in Different Tissues

Temporal and Spatial Expressions (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes average value of the expressions.

Top Co-expressed Genes in Brain-Frontal Cortex (BA9) (GTEx v7)

Top 10 positively co-expressed genes

Gene Symbol	Pearson Correlation Coefficient
NUP133	0.891
COX15	0.881
MRPS16	0.881
PEX19	0.877
SLC39A9	0.874
TAF9B	0.869
ACADSB	0.869
DDB1	0.868
PWP1	0.866
PRKAG1	0.863

Top 10 negatively co-expressed genes

Gene Symbol	Pearson Correlation Coefficient
OR4F5	-0.635
OR4F29	-0.586
MTRNR2L6	-0.411
MTRNR2L9	-0.363
PPBP	-0.336
MTRNR2L10	-0.325
RAX2	-0.299
C8orf74	-0.282
KLRK1	-0.28
MTRNR2L2	-0.275

There is no DrugBank record for this gene !

ID	Drug Name	Action	PubMed
C016403	2,4-dinitrotoluene	"2,4-dinitrotoluene affects the expression of BBS4 mRNA"	21346803
C009407	2,5,2',5'-tetrachlorobiphenyl	"2,5,2',5'-tetrachlorobiphenyl results in decreased expression of BBS4 mRNA"	23829299
D020106	Acrylamide	Acrylamide results in decreased expression of BBS4 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of BBS4 mRNA	21641981\|2210060
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of BBS4 mRNA	19770486
D001280	Atrazine	Atrazine results in decreased expression of BBS4 mRNA	22378314
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased mutagenesis of BBS4 gene	25435355
C006780	bisphenol A	bisphenol A affects the expression of BBS4 mRNA	21786754
C006780	bisphenol A	bisphenol A results in increased expression of BBS4 mRNA	17706920
C006780	bisphenol A	LHB protein affects the reaction [bisphenol A results in increased expression of BBS4 mRNA]	17706920
C006780	bisphenol A	bisphenol A affects the expression of BBS4 mRNA	21786754
C006780	bisphenol A	bisphenol A results in increased expression of BBS4 mRNA	25181051
C584509	C646 compound	C646 compound results in increased expression of BBS4 mRNA	26191083
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of BBS4 gene	20938992
D019327	Copper Sulfate	Copper Sulfate results in increased expression of BBS4 mRNA	19549813
D003520	Cyclophosphamide	BBS4 mRNA affects the susceptibility to [Paclitaxel co-treated with Fluorouracil co-treated with Doxorubicin co-treated with Cyclophosphamide]	16896004
D016572	Cyclosporine	Cyclosporine results in increased expression of BBS4 mRNA	20106945\|2556210
C010902	decabromobiphenyl ether	decabromobiphenyl ether results in increased expression of BBS4 mRNA	23640034
D002945	Cisplatin	Cisplatin results in increased expression of BBS4 mRNA	27392435
C000944	dicrotophos	dicrotophos results in decreased expression of BBS4 mRNA	28302478
D004026	Dieldrin	Dieldrin results in decreased expression of BBS4 mRNA	28385952
D004317	Doxorubicin	BBS4 mRNA affects the susceptibility to [Paclitaxel co-treated with Fluorouracil co-treated with Doxorubicin co-treated with Cyclophosphamide]	16896004
D004317	Doxorubicin	BBS4 protein affects the susceptibility to Doxorubicin	16217747
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of BBS4 mRNA	22079256
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in increased expression of BBS4 mRNA	23649840
D005472	Fluorouracil	BBS4 mRNA affects the susceptibility to [Paclitaxel co-treated with Fluorouracil co-treated with Doxorubicin co-treated with Cyclophosphamide]	16896004
D005485	Flutamide	Flutamide results in increased expression of BBS4 mRNA	24793618
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of BBS4 gene	20938992
D005557	Formaldehyde	Formaldehyde results in increased expression of BBS4 mRNA	23649840
C069837	fullerene C60	fullerene C60 results in decreased expression of BBS4 mRNA	19167457
D005947	Glucose	[INS protein co-treated with Glucose] results in increased expression of BBS4 mRNA	22634610
D017313	Fenretinide	Fenretinide results in increased expression of BBS4 mRNA	28973697
C492448	ICG 001	ICG 001 results in increased expression of BBS4 mRNA	26191083
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in increased expression of BBS4 mRNA	23430699
C045463	leflunomide	leflunomide results in decreased expression of BBS4 mRNA	28988120
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of BBS4 gene	20938992
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of BBS4 mRNA	23649840
D037742	Nanotubes, Carbon	"Nanotubes, Carbon analog results in decreased expression of BBS4 mRNA"	25554681
D037742	Nanotubes, Carbon	"Nanotubes, Carbon results in decreased expression of BBS4 mRNA"	25554681
C028007	nickel monoxide	nickel monoxide results in decreased expression of BBS4 mRNA	19167457
D017239	Paclitaxel	BBS4 mRNA affects the susceptibility to [Paclitaxel co-treated with Fluorouracil co-treated with Doxorubicin co-treated with Cyclophosphamide]	16896004
C410127	PCB 180	PCB 180 results in decreased expression of BBS4 mRNA	23829299
C006253	pirinixic acid	pirinixic acid results in decreased expression of BBS4 mRNA	23811191
D010936	Plant Extracts	Plant Extracts results in increased expression of BBS4 mRNA	23557933
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of BBS4 mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of BBS4 mRNA	22079256
D011192	Potassium Dichromate	Potassium Dichromate results in decreased expression of BBS4 mRNA	23608068
D011794	Quercetin	Quercetin results in increased expression of BBS4 mRNA	21632981
C513635	S-2-pentyl-4-pentynoic hydroxamic acid	S-2-pentyl-4-pentynoic hydroxamic acid results in increased expression of BBS4 mRNA	21427059
D018038	Sodium Selenite	Sodium Selenite results in decreased expression of BBS4 mRNA	18175754
D012999	Soman	Soman results in decreased expression of BBS4 mRNA	19281266
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of BBS4 mRNA	21570461
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of BBS4 mRNA	28111298
D014635	Valproic Acid	Valproic Acid results in decreased expression of BBS4 mRNA	23179753\|2493525
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of BBS4 gene	25560391
C025643	vinclozolin	vinclozolin results in increased expression of BBS4 mRNA	23034163

GO/Pathway

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0001103	RNA polymerase II repressing transcription factor binding	-	IPI	22302990
GO:0003777	microtubule motor activity	-	IMP	15107855
GO:0005515	protein binding	-	IPI	15107855 16327777 17574030 18000879 18762586 18772192 20080638 22139371 22500027 23943788 24550735 24939912 25416956 25552655 26871637 27173435
GO:0034452	dynactin binding	-	IDA	15107855
GO:0043014	alpha-tubulin binding	-	IDA	17574030
GO:0048487	beta-tubulin binding	-	IDA	17574030

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0000226	microtubule cytoskeleton organization	-	ISS	-
GO:0000281	mitotic cytokinesis	-	IMP	15107855
GO:0001764	neuron migration	-	IEA	-
GO:0001843	neural tube closure	-	ISS	-
GO:0001895	retina homeostasis	-	ISS	-
GO:0001947	heart looping	-	ISS	-
GO:0003085	negative regulation of systemic arterial blood pressure	-	IEA	-
GO:0007098	centrosome cycle	-	IMP	15107855
GO:0007286	spermatid development	-	ISS	-
GO:0007601	visual perception	-	IEA	-
GO:0007608	sensory perception of smell	-	ISS	-
GO:0010629	negative regulation of gene expression	-	IEA	-
GO:0015031	protein transport	-	IEA	-
GO:0016358	dendrite development	-	ISS	-
GO:0019216	regulation of lipid metabolic process	-	ISS	-
GO:0021591	ventricular system development	-	IEA	-
GO:0021756	striatum development	-	ISS	-
GO:0021766	hippocampus development	-	ISS	-
GO:0021987	cerebral cortex development	-	ISS	-
GO:0030534	adult behavior	-	ISS	-
GO:0030837	negative regulation of actin filament polymerization	-	IEA	-
GO:0032402	melanosome transport	-	ISS	-
GO:0032465	regulation of cytokinesis	-	IMP	15107855
GO:0033365	protein localization to organelle	-	ISS	-
GO:0034260	negative regulation of GTPase activity	-	IEA	-
GO:0034454	microtubule anchoring at centrosome	-	IMP	15107855
GO:0035176	social behavior	-	IEA	-
GO:0035845	photoreceptor cell outer segment organization	-	IEA	-
GO:0038108	negative regulation of appetite by leptin-mediated signaling pathway	-	ISS	-
GO:0040018	positive regulation of multicellular organism growth	-	IEA	-
GO:0045444	fat cell differentiation	-	ISS	-
GO:0045494	photoreceptor cell maintenance	-	ISS	-
GO:0045724	positive regulation of cilium assembly	-	ISS	-
GO:0046548	retinal rod cell development	-	ISS	-
GO:0046907	intracellular transport	-	ISS	16399798
GO:0048854	brain morphogenesis	-	ISS	-
GO:0050893	sensory processing	-	TAS	14520415
GO:0051457	maintenance of protein location in nucleus	-	IGI	15107855
GO:0051492	regulation of stress fiber assembly	-	IEA	-
GO:0060271	cilium assembly	-	ISS	16399798
GO:0060296	regulation of cilium beat frequency involved in ciliary motility	-	ISS	-
GO:0060324	face development	-	IEA	-
GO:0060613	fat pad development	-	IEA	-
GO:0061512	protein localization to cilium	-	IMP	23943788
GO:0071539	protein localization to centrosome	-	IMP	15107855
GO:1902855	regulation of non-motile cilium assembly	-	IEA	-
GO:1903546	protein localization to photoreceptor outer segment	-	IEA	-
GO:1905515	non-motile cilium assembly	-	ISS	-

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0000242	pericentriolar material	-	IDA	15107855
GO:0001750	photoreceptor outer segment	-	IEA	-
GO:0001917	photoreceptor inner segment	-	IEA	-
GO:0005634	nucleus	-	IEA	-
GO:0005813	centrosome	-	IDA	14520415 18762586 22500027 24550735
GO:0005814	centriole	-	IDA	15107855
GO:0005829	cytosol	-	IDA	-
GO:0005829	cytosol	-	TAS	-
GO:0005929	cilium	-	IDA	23943788 24550735
GO:0031514	motile cilium	-	IDA	18299575
GO:0032391	photoreceptor connecting cilium	-	IEA	-
GO:0034451	centriolar satellite	-	IDA	15107855 23943788 24550735
GO:0034464	BBSome	-	IDA	17574030 20080638 24550735
GO:0035869	ciliary transition zone	-	IDA	23943788
GO:0036064	ciliary basal body	-	IDA	15107855 18299575
GO:0060170	ciliary membrane	-	IDA	17574030
GO:0097730	non-motile cilium	-	IDA	17574030

KEGG ID	KEGG Term

Reactome ID	Reactome Term	Evidence
R-HSA-1852241	Organelle biogenesis and maintenance	TAS
R-HSA-5617833	Cilium Assembly	TAS
R-HSA-5620920	Cargo trafficking to the periciliary membrane	TAS
R-HSA-5620922	BBSome-mediated cargo-targeting to cilium	TAS

Interactions (STRING v10.5, Interaction Score >= 0.400)

Publications (Co-occurrence of gene symbol strings and ANCO-Dependence terms)

PMID	Title (Year)	Author	Journal