Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	27241
Gene name Gene Name - the full gene name approved by the HGNC.	Bardet-Biedl syndrome 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	BBS9
Synonyms (NCBI Gene) Gene synonyms aliases	B1, C18, D1, PTHB1
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7p14.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(33)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61753526	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs61764068	A>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, non coding transcript variant, missense variant, intron variant, coding sequence variant
rs137852856	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained
rs137852857	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs137852858	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs137962929	G>A	Pathogenic	Intron variant, splice donor variant, 5 prime UTR variant
rs138072724	C>T	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs142434516	T>A,G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs145007686	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs148536971	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, intron variant, coding sequence variant, missense variant, non coding transcript variant
rs149362446	C>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs201938124	G>A,C,T	Likely-pathogenic, pathogenic	Splice donor variant, genic downstream transcript variant, downstream transcript variant
rs370916293	A>C,G	Pathogenic	5 prime UTR variant, intron variant
rs587777810	->C	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs587777811	G>C	Pathogenic	Splice donor variant
rs606231137	AACA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs746797123	C>G,T	Pathogenic	Stop gained, 3 prime UTR variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs747388658	TT>-,T	Pathogenic	Frameshift variant, intron variant, coding sequence variant, non coding transcript variant
rs749974697	C>A,T	Likely-pathogenic, pathogenic	5 prime UTR variant, stop gained, non coding transcript variant, intron variant, coding sequence variant, missense variant
rs762511626	T>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs775081992	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, intron variant, 5 prime UTR variant, non coding transcript variant, stop gained
rs781174906	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs863224534	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs869025208	ATGGACAAGGTAA>-	Pathogenic	Intron variant, splice donor variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs886039799	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs886039801	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs886039875	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs886042258	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1326810030	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs1562686929	A>G	Pathogenic	Splice acceptor variant, intron variant
rs1562917450	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1563049863	T>A	Likely-pathogenic	Intron variant, splice donor variant, genic downstream transcript variant
rs1584179629	A>G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, intron variant, 5 prime UTR variant

Show/Hide all(57)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017564	hsa-miR-335-5p	Microarray	18185580
MIRT650436	hsa-miR-5582-3p	HITS-CLIP	23824327
MIRT650435	hsa-miR-8084	HITS-CLIP	23824327
MIRT650434	hsa-miR-28-3p	HITS-CLIP	23824327
MIRT650433	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT650432	hsa-miR-1248	HITS-CLIP	23824327
MIRT650431	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT650430	hsa-miR-8067	HITS-CLIP	23824327
MIRT650429	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT650428	hsa-miR-623	HITS-CLIP	23824327
MIRT650427	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT650426	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT650425	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT650424	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT650423	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT641650	hsa-miR-1264	HITS-CLIP	23824327
MIRT641649	hsa-miR-3121-5p	HITS-CLIP	23824327
MIRT641648	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT641647	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT641646	hsa-miR-3185	HITS-CLIP	23824327
MIRT641645	hsa-miR-4709-3p	HITS-CLIP	23824327
MIRT650436	hsa-miR-5582-3p	HITS-CLIP	23824327
MIRT650435	hsa-miR-8084	HITS-CLIP	23824327
MIRT650434	hsa-miR-28-3p	HITS-CLIP	23824327
MIRT650433	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT650432	hsa-miR-1248	HITS-CLIP	23824327
MIRT650431	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT650430	hsa-miR-8067	HITS-CLIP	23824327
MIRT650429	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT650428	hsa-miR-623	HITS-CLIP	23824327
MIRT650427	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT650426	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT650425	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT650424	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT650423	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT641650	hsa-miR-1264	HITS-CLIP	23824327
MIRT641649	hsa-miR-3121-5p	HITS-CLIP	23824327
MIRT641648	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT641647	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT641646	hsa-miR-3185	HITS-CLIP	23824327
MIRT641645	hsa-miR-4709-3p	HITS-CLIP	23824327
MIRT817013	hsa-miR-3647-3p	CLIP-seq
MIRT817014	hsa-miR-4661-5p	CLIP-seq
MIRT817015	hsa-miR-502-5p	CLIP-seq
MIRT817016	hsa-miR-516a-3p	CLIP-seq
MIRT2426612	hsa-miR-203	CLIP-seq
MIRT2426613	hsa-miR-4766-3p	CLIP-seq
MIRT2426614	hsa-miR-548p	CLIP-seq
MIRT2426615	hsa-miR-561	CLIP-seq
MIRT2483776	hsa-miR-410	CLIP-seq
MIRT2483777	hsa-miR-4427	CLIP-seq
MIRT2483778	hsa-miR-4677-3p	CLIP-seq
MIRT2483779	hsa-miR-4679	CLIP-seq
MIRT2483780	hsa-miR-4680-3p	CLIP-seq
MIRT2483781	hsa-miR-4699-3p	CLIP-seq
MIRT2483782	hsa-miR-4778-5p	CLIP-seq
MIRT2483783	hsa-miR-944	CLIP-seq

Show/Hide all(34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000242	Component	Pericentriolar material	IDA	22139371
GO:0003674	Function	Molecular_function	ND
GO:0005515	Function	Protein binding	IPI	17574030, 19081074, 20080638, 22072986, 22139371, 22500027, 24550735, 25552655, 27173435, 28514442, 29039417, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IDA	22139371, 23943788, 24550735
GO:0005929	Component	Cilium	IEA
GO:0007601	Process	Visual perception	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0034451	Component	Centriolar satellite	IDA	23943788
GO:0034451	Component	Centriolar satellite	IEA
GO:0034464	Component	BBSome	IBA
GO:0034464	Component	BBSome	IDA	17574030, 20080638, 24550735
GO:0034464	Component	BBSome	IEA
GO:0034464	Component	BBSome	IPI	19081074
GO:0035869	Component	Ciliary transition zone	IDA	23943788
GO:0036064	Component	Ciliary basal body	IDA
GO:0042995	Component	Cell projection	IEA
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045444	Process	Fat cell differentiation	ISS
GO:0060170	Component	Ciliary membrane	IDA	19081074
GO:0060170	Component	Ciliary membrane	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	NAS	19081074
GO:0061512	Process	Protein localization to cilium	IMP	23943788

MIM	HGNC	e!Ensembl
607968	30000	ENSG00000122507

Protein

UniProt ID

Q3SYG4

Protein name

Protein PTHB1 (Bardet-Biedl syndrome 9 protein) (Parathyroid hormone-responsive B1 gene protein)

Protein function

The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This cilio

PDB

4YD8 , 6XT9

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14727	PHTB1_N	1 → 418	PTHB1 N-terminus	Family
PF14728	PHTB1_C	441 → 819	PTHB1 C-terminus	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Expressed in adult heart, skeletal muscle, lung, liver, kidney, placenta and brain, and in fetal kidney, lung, liver and brain. {ECO:0000269|PubMed:10221542, ECO:0000269|PubMed:16380913}.

Sequence

MSLFKARDWWSTILGDKEEFDQGCLCLANVDNSGNGQDKIIVGSFMGYLRIFSPHPAKTG
DGAQAEDLLLEVDLRDPVLQVEVGKFVSGTEMLHLAVLHSRKLCVYSVSGTLGNVEHGNQ
CQMKLMYEHNLQRTACNMTYGSFGGVKGRDLICIQSMDGMLMVFEQESYAFGRFLPGFLL
PGPLAYSSRTDSFLTVSSCQQVESYKYQVLAFATDADKRQETEQQKLGSGKRLVVDWTLN
IGEQALDICIVSFNQSASSVFVLGERNFFCLKDNGQIRFMKKLDWSPSCFLPYCSVSEGT
INTLIGNHNNMLHIYQDVTLKWATQLPHIPVAVRVGCLHDLKGVIVTLSDDGHLQCSYLG
TDPSLFQAPNVQSRELNYDELDVEMKELQKIIKDVNKSQGVWPMTEREDDLNVSVVVSPN
FDSVSQATDVEVGTDLVPSVTVKVTLQNRVILQKAKLSVYVQPPLELTCDQFTFEFMTPD
LTRTVSFSVYLKRSYTPSELEGNAVVSYSRPTDRNPDGIPRVIQCKFRLPLKLICLPGQP
SKTASHKITIDTNKSPVSLLSLFPGFASQSDDDQVNVMGFHFLGGARITVLASKTSQRYR
IQSEQFEDLWLITNELILRLQEYFEKQGVKDFACSFSGSIPLQEYFELIDHHFELRINGE
KLEELLSERAVQFRAIQRRLLARFKDKTPAPLQHLDTLLDGTYKQVIALADAVEENQGNL
FQSFTRLKSATHLVILLIALWQKLSADQVAILEAAFLPLQEDTQELGWEETVDAAISHLL
KTCLSKSSKEQALNLNSQLNIPKDTSQLKKHITLLCDRLSKGGRLCLSTDAAAPQTMVMP
GGCTTIPESDLEERSVEQDSTELFTNHRHLTAETPRPEVSPLQGVSE

Sequence length

887

Interactions

View interactions

	Reactome
			BBSome-mediated cargo-targeting to cilium

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Bardet-Biedl Syndrome	bardet-biedl syndrome 9, bardet-biedl syndrome, Bardet-Biedl syndrome 1	rs1229015450, rs137852858, rs863224534, rs137962929, rs747388658, rs587777811, rs869025208, rs201938124, rs1326810030, rs746797123, rs781174906, rs767005321, rs606231137, rs137852856, rs886039875 View all (11 more)	N/A
retinal dystrophy	Retinal dystrophy	rs767005321, rs606231137	N/A
Nephronophthisis	nephronophthisis 4	rs137852856	N/A
Retinitis Pigmentosa	retinitis pigmentosa	rs1584179629	N/A

Show/Hide Unknown Diseases (6)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Colorectal Cancer	Metastasis in stage I-III microsatellite instability low/stable colorectal cancer (time to event)	N/A	N/A	GWAS
Congestive Heart Failure	Congestive heart failure	N/A	N/A	GWAS
Dementia	Dementia	N/A	N/A	GWAS
Leprosy	Leprosy	N/A	N/A	GWAS
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS
Sagittal craniosynostosis	Sagittal craniosynostosis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (34)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acrocephalosyndactylia	Associate	30651579
Acute Kidney Injury	Associate	26083657, 30678657
Asthma	Associate	31557306
Atrial Fibrillation	Associate	30678657
Bardet Biedl Syndrome	Associate	16380913, 22353939, 23404957, 26085087, 26846096, 27708425, 29590217, 29806606, 31294530, 31488071, 31530639, 33138063, 33616283, 33771153, 33964006, 34212515, 34692830, 36833331 View all (3 more)
Ciliopathies	Associate	34354814
Colorectal Neoplasms	Associate	11720442
Cough	Associate	31557306
Craniosynostoses	Associate	23160099, 30651579, 35627201
Delirium	Associate	30678657
Ependymoma	Associate	33247464
Fibrocartilaginous embolism	Associate	21337395
Heart Failure	Associate	35346191
Hyperglycemia	Associate	33138063
Ileal Neoplasms	Associate	39966961
Inflammation	Associate	26480920
Insulin Resistance	Associate	33138063
Liver Neoplasms	Associate	11720442
Macular Degeneration	Associate	18048322
Muenke Syndrome	Associate	30651579
Multiple Sclerosis	Associate	15834022
Multiple Sclerosis Chronic Progressive	Associate	15834022
Multiple Sclerosis Relapsing Remitting	Associate	15834022
Myocardial Infarction	Associate	30678657
Neoplasm Invasiveness	Associate	24887297
Neoplasms	Associate	11720442, 27085068
Nijmegen Breakage Syndrome	Associate	31888296
Obesity	Associate	26480920, 31488071, 33616283
Ovarian Neoplasms	Associate	11720442
Periodontitis	Associate	35179257
Pulmonary Disease Chronic Obstructive	Associate	37442983
Respiratory Sounds	Associate	31557306
Retinitis Pigmentosa	Associate	22353939
Stroke	Associate	30678657

BBS9 (Bardet-Biedl syndrome 9)