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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

BBS9 Gene

protein-coding GIFtS: 51
GCID: GC07P033168

Bardet-Biedl syndrome 9

Explore 14 diseases affiliated with
BBS9 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Bardet-Biedl Syndrome 9¹ ²		C18²
PTHB1¹ ² ³ ⁵		D1²
B1¹ ²		Protein PTHB1²
Bardet-Biedl Syndrome 9 Protein² ³		PTH-Responsive Osteosarcoma B1 Protein²
Parathyroid Hormone-Responsive B1 Gene Protein² ³

External Ids:	HGNC: 30000¹	Entrez Gene: 27241²	Ensembl: ENSG00000122507⁷	OMIM: 607968⁵	UniProtKB: Q3SYG4³

Export aliases for BBS9 gene to outside databases

Previous GC identifers: GC07P033136 GC07P033048

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BBS9:

This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in

parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively

spliced transcript variants encoding different isoforms have been identified. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: PTHB1_HUMAN, Q3SYG4

Function: The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This

ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and

contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the

BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8

and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the

ciliary membrane

Gene Wiki entry for BBS9

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000007.13 NC_018918.1 NT_007819.17 NT_079592.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the BBS9 gene promoter:
AML1a FOXC1 c-Myb CUTL1 GCNF-2 MRF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): BBS9 promoter sequence

Search SABiosciences Chromatin IP Primers for BBS9

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BBS9

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7p14 Ensembl cytogenetic band: 7p14.3 HGNC cytogenetic band: 7p14

BBS9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BBS9 gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07P033168: view genomic region (about GC identifiers)

Start:	33,168,856 bp from pter	End:	33,645,680 bp from pter
Size:	476,825 bases	Orientation:	plus strand

1 alternative location:

Chr7+,CRA_TCAG 33,213,680-33,690,276

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PTHB1_HUMAN, Q3SYG4 (See protein sequence)

Recommended Name: Protein PTHB1

Size: 887 amino acids; 99280 Da

Subunit: Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex

binds to PCM1 and tubulin

Subcellular location: Cytoplasm, cytoskeleton, centrosome. Cell projection, cilium membrane. Cytoplasm. Note=Localizes

to nonmembranous centriolar satellites in the cytoplasm

Sequence caution: Sequence=AAD25980.1; Type=Miscellaneous discrepancy; Note=Chimera; Sequence=AAD25981.1;

Type=Erroneous initiation;

Secondary accessions: P78514 Q7KYS6 Q7KYS7 Q8N570 Q99844 Q99854 Q9Y699 Q9Y6A0

Alternative splicing: 6 isoforms: Q3SYG4-1 Q3SYG4-2 Q3SYG4-3 Q3SYG4-4 Q3SYG4-5 Q3SYG4-6 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BBS9: NX_Q3SYG4

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q3SYG4

BBS9 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001028776.1 NP_001028777.1 NP_055266.2 NP_940820.1

ENSEMBL proteins:

ENSP00000415794 ENSP00000242067 ENSP00000313122 ENSP00000379433 ENSP00000347182

ENSP00000412159 ENSP00000388646 ENSP00000388114 ENSP00000346214 ENSP00000405151

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	Uscn Proteins for BBS9

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0005815	microtubule organizing center	IEA	--
GO:0005886	plasma membrane	IDA	--

BBS9 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

BBS9 for domains About GeneDecksing

1 InterPro domain/family:

IPR026511 PTHB1

Graphical View of Domain Structure for InterPro Entry Q3SYG4

ProtoNet protein and cluster: Q3SYG4

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: PTHB1_HUMAN, Q3SYG4

Function: The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This

ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and

contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the

BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8

and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the

ciliary membrane

Induction: Down-regulated by parathyroid hormone

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	ND	--
GO:0005515	protein binding	IPI	--

BBS9 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for BBS9:

Increased S DNA content

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for BBS9

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		hsa-miR-1290 hsa-miR-569 hsa-miR-200c* hsa-miR-944 hsa-miR-550a* hsa-miR-221* hsa-miR-143 hsa-miR-1264

		SwitchGear 3'UTR luciferase reporter plasmid: BBS9 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BBS9

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for BBS9

STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

5/11 Interacting proteins for BBS9 (Q3SYG4^{1, 3} ENSP00000242067⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 11)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
BBS2	Q9BXC9¹^,³, ENSP00000245157⁴	EBI-2826852,EBI-748297 I2D: score=1 STRING: ENSP00000245157
BBS1	Q8NFJ9¹^,³	EBI-2826852,EBI-1805484 I2D: score=1
BBS5	Q8N3I7¹^,³, ENSP00000295240⁴	EBI-2826852,EBI-2892592 I2D: score=1 STRING: ENSP00000295240
TTC8	Q8TAM2¹^,³, ENSP00000370031⁴	EBI-2826852,EBI-2892638 I2D: score=1 STRING: ENSP00000370031
BBS4	Q96RK4³, ENSP00000268057⁴	I2D: score=1 STRING: ENSP00000268057

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007601	visual perception	IEA	--
GO:0045444	fat cell differentiation	ISS	--
GO:0050896	response to stimulus	IEA	--

BBS9 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

BBS9 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for BBS9
2 Novoseek chemical compound relationships for BBS9 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
dopamine	12.2	3	1826762 (2), 11270582 (1)
tyrosine	4.75	1	9164677 (1)

Search CenterWatch for drugs/clinical trials and news about BBS9 / PTHB1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for BBS9 gene (4 alternative transcripts):

NM_001033604.1 NM_001033605.1 NM_014451.3 NM_198428.2

Unigene Cluster for BBS9:

Bardet-Biedl syndrome 9

Hs.372360 [show with all ESTs]

Unigene Representative Sequence: NM_198428

16 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000432983 ENST00000242067(uc003tdn.1 uc010kwn.1 uc003tds.1)

ENST00000350941(uc003tdq.1) ENST00000396127(uc003tdo.1) ENST00000355070(uc003tdp.1)

ENST00000465037 ENST00000433714(uc011kao.1) ENST00000482941 ENST00000442858

ENST00000434373(uc003tdr.1) ENST00000496029 ENST00000495426 ENST00000489708

ENST00000498189 ENST00000354265 ENST00000425508(uc011kan.1)

miRNA Products:		OriGene 3'-UTR Clone (see all 4): BBS9 Browse OriGene MicroRNA Expression Plasmids
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		8 QIAGEN miScript miRNA Assays for microRNAs that regulate BBS9:
		hsa-miR-1290 hsa-miR-569 hsa-miR-200c* hsa-miR-944 hsa-miR-550a* hsa-miR-221* hsa-miR-143 hsa-miR-1264

		SwitchGear 3'UTR luciferase reporter plasmid: BBS9 3' UTR sequence

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Additional cDNA sequence:

AF095769.1 AF095771.1 AK057660.1 AK091361.1 AK297436.1 AK314627.1 BC032715.1 BC103831.2

BX647385.1 U85994.1 U85995.1 U87408.1

14 DOTS entries:

DT.452811 DT.86847330 DT.86847328 DT.100817594 DT.40116860 DT.100728394 DT.100660674 DT.100817597

DT.121042747 DT.95208083 DT.121042730 DT.121042741 DT.91989058 DT.70104182

24/26 AceView cDNA sequences (see all 26):

BM541803 AL712323 CB216100 BX494907 AL704922 BC032715 BM473370 BX504089

BX471621 BX510041 BM926128 BG716896 CB267053 BG724201 BX470520 AA218585

NM_014451 NM_198428 BE314581 AK057660 AF095771 BX647385 BG820988 BX394950

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for BBS9 About this scheme

ExUns:	1a	·	1b	^	2a	·	2b	^	3a	·	3b	·	3c	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15a	·	15b	^	16a	·	16b	·	16c	^	17	^	18
SP1:																													-		-		-		-		-				-
SP2:																																									-				-
SP3:					-
SP4:					-		-
SP5:																																													-

ECgene alternative splicing isoforms for BBS9

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

BBS9 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

BBS9 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Gut Tube

Midgut

Midgut Endoderm Cells

Endoderm

Gut Tube

Midgut

Gut Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See BBS9 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BBS9

SOURCE GeneReport for Unigene cluster: Hs.372360

UniProtKB/Swiss-Prot: PTHB1_HUMAN, Q3SYG4

Tissue specificity: Widely expressed. Expressed in adult heart, skeletal muscle, lung, liver, kidney, placenta and

brain, and in fetal kidney, lung, liver and brain

SABiosciences Custom PCR Arrays for BBS9

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for BBS9 gene from 7/23 species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Bbs9^{1 , 5}	Bardet-Biedl syndrome 9 (human)^{1, 5}	84.2(n)¹ 87.84(a)¹		9 (9.17 cM)⁵ 319845¹ NM_178415.1¹ NP_848502.1¹ 22475715⁵
chicken (Gallus gallus)	Aves	BBS9¹	Bardet-Biedl syndrome 9	74.45(n) 74.15(a)		420745 XM_418843.3 XP_418843.3
lizard (Anolis carolinensis)	Reptilia	BBS9⁶	--	72(a)	1 ↔ 1	6(45417148-45533259)
tropical clawed frog (Xenopus tropicalis)	Amphibia	AL890590.2²	--	77.9(n)		AL890590.2
zebrafish (Danio rerio)	Actinopterygii	bbs9¹	Bardet-Biedl syndrome 9	63.34(n) 63.57(a)		100333716 XM_002664792.1 XP_002664838.1
fruit fly (Drosophila melanogaster)	Insecta	CG15666¹	CG15666	43.25(n) 31.5(a)		37439 NM_001144255.2 NP_001137727.2
worm (Caenorhabditis elegans)	Secernentea	bbs-9¹	Protein BBS-9	41.88(n) 26.26(a)		183572 NM_059572.3 NP_491973.3

ENSEMBL Gene Tree for BBS9 (if available)
TreeFam Gene Tree for BBS9 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs77444928^1,2		--	33091073(+)	`GCAGGG/AAAGCA`	4	--	int¹		1		CSA	2
rs70989938^1,2	C	--	33099403(+)	`TTGCC-/TTGCTG`	4	--	int¹		1		NA	2
rs146163781^1,2		--	33167187(+)	`AGACAA/GTCTTG`	4	--	us2k¹		0	--	--	--	--
rs139456797^1,2		--	33167275(+)	`CATGCC/GTCAGC`	4	--	us2k¹		0	--	--	--	--
rs10236927^1,2	C	--	33167409(+)	`CTCCCG/ACCTTG`	4	--	us2k¹		2		NA	4
rs145486735^1,2		--	33167454(+)	`ATTGTG/TCCTGG`	4	--	us2k¹		0	--	--	--	--
rs187818580^1,2		--	33167524(+)	`ACAATA/TTCCAG`	4	--	us2k¹		0	--	--	--	--
rs202075264^1,2		--	33167561(+)	`AAACT-/ATTA ATCAA`	4	--	us2k¹		0	--	--	--	--
rs150464686^1,2	C	--	33167564(+)	`CTATT-/AATC AAGAT`	4	--	us2k¹		0	--	--	--	--
rs201173865^1,2		--	33167601(+)	`TGAGT-/TTAA TTAAC`	4	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for BBS9 (33168856 - 33418856 bp, first 250kb of BBS9)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 10 variations for BBS9
7 CNVs: 52212 59405 64797 53175 99917 62636 52211
3 Indels: 62637 47344 42287
Human Gene Mutation Database (HGMD): BBS9

Locus Specific Mutation Databases (LSDB): BBS9

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BBS9

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

BBS9 for disorders           About GeneDecksing

OMIM gene information: 607968
OMIM disorders: 209900
UniProtKB/Swiss-Prot: PTHB1_HUMAN, Q3SYG4

A chromosomal aberration involving PTHB1 is found in Wilms tumor 5 (WT5) [MIM:601583]. Translocation

t(1;7)(q42;p15) with OBSCN

Defects in BBS9 are a cause of Bardet-Biedl syndrome type 9 (BBS9) [MIM:209900]. Bardet-Biedl syndrome (BBS)

is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy,

early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation

14 diseases for BBS9: About MalaCards

bardet-biedl syndrome 9 bardet-biedl syndrome osteosarcoma pigmentary retinopathy

premature ovarian failure macular degeneration wilms tumor polydactyly

kidney disease retinal disease retinitis breast cancer

hypertension carcinoma

GeneTests: BBS9

Bardet-Biedl Syndrome

Human Genome Epidemiology (HuGE) Navigator: BBS9 (4 documents)

Export disorders for BBS9 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for BBS9 gene, integrated from 9 sources (see all 28):
(articles sorted by number of sources associating them with BBS9)

Utopia: connect your pdf to the dynamic
world of online information

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. (PubMed id 16380913)^{1, 2, 3, 9} Nishimura D.Y....Sheffield V.C. (2005)
Identification of a novel parathyroid hormone-responsive gene in human osteoblastic cells. (PubMed id 10221542)^{1, 2, 3} Adams A.E....Suva L.J. (1999)
The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour. (PubMed id 12618763)^{1, 2, 9} Vernon E.G.... Brown K.W. (2003)
A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. (PubMed id 17574030)^{1, 2} Nachury M.V....Jackson P.K. (2007)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Parathyroid hormone-responsive B1 gene is associated with premature ovarian failure. (PubMed id 18349106)^{1, 9} Kang H....Kwack K. (2008)
Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 lea ds to cilia defects. (PubMed id 22479622)¹ Veleri S....Swaroop A. (2012)
A genome-wide association study identifies susceptibil ity loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. (PubMed id 23160099)¹ Justice C.M....Boyadjiev S.A. (2012)
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. (PubMed id 21344540)² Deveault C....Heon E. (2011)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 27241	HGNC: 30000	AceView: B1	Ensembl:ENSG00000122507	euGenes: HUgn27241
ECgene: BBS9	H-InvDB: BBS9

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for BBS9	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BBS9

Intellectual Property for BBS9 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for BBS9 gene:
Search GeneIP for patents involving BBS9

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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