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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	27241
Gene name	Bardet-Biedl syndrome 9
Gene symbol	BBS9
Synonyms (NCBI Gene)	B1C18D1PTHB1
Chromosome	7
Chromosome location	7p14.3
Summary	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

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

1505

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the eye	Likely pathogenic; Pathogenic	rs2128345173, rs948418225	RCV001814317 RCV001814316
Bardet-Biedl syndrome	Likely pathogenic; Pathogenic	rs2128345173, rs2128667543, rs948418225, rs1266192229, rs2128756914, rs1401715737, rs1815414782, rs137962929, rs2128344662, rs748601675, rs1864348159, rs2128108391, rs2128344706, rs2128646927, rs998200637 View all (57 more)	RCV001388670 RCV001386353 RCV001388265 RCV001388047 RCV001387040 RCV003772362 RCV001902445 RCV001932752 RCV001939369 RCV001946902 RCV001903922 RCV001918450 RCV001948828 RCV002266192 RCV003523123 RCV003522915 RCV000735941 RCV004799728 RCV001002885 RCV003522916 RCV000614851 RCV003079872 RCV000256468 RCV002629865 RCV002575392 RCV002800409 RCV002837499 RCV002876827 RCV002910177 RCV000199446 RCV000195839 RCV003018575 RCV003222527 RCV003222530 RCV002518770 RCV000256453 RCV000256419 RCV000256470 RCV003388406 RCV003778252 RCV003779146 RCV003523206 RCV005062969 RCV003523207 RCV003523930 RCV003524262 RCV003525140 RCV003523407 RCV003523819 RCV003524526 RCV003524843 RCV003524825 RCV003524863 RCV003634595 RCV003634692 RCV003635038 RCV003635120 RCV003635012 RCV003632999 RCV003633216 RCV003634396 RCV003854084 RCV003875043 RCV005101920 RCV000477579 RCV000548595 RCV003767840 RCV000697584 RCV000691979 RCV000735940 RCV000735943 RCV001207839 RCV001061507 RCV003523060 RCV001879824 RCV001880048
Bardet-Biedl syndrome 1	Pathogenic	rs606231137	RCV000709632
Bardet-Biedl syndrome 9	Likely pathogenic; Pathogenic	rs2128667543, rs948418225, rs1266192229, rs1454474832, rs1401715737, rs779588488, rs1815414782, rs748601675, rs2128325966, rs2128646927, rs998200637, rs201938124, rs137852856, rs587777810, rs137852857 View all (57 more)	RCV002499805 RCV002488210 RCV002493931 RCV002501865 RCV001839344 RCV001849654 RCV004571481 RCV003464311 RCV002249292 RCV003464422 RCV003464428 RCV000002775 RCV000002776 RCV000002777 RCV000002778 RCV000002779 RCV000002780 RCV000002781 RCV005034662 RCV003464599 RCV003464638 RCV003462313 RCV002485317 RCV000207745 RCV003110191 RCV000256188 RCV000256397 RCV003463723 RCV003465127 RCV003465128 RCV003465129 RCV003465130 RCV003465131 RCV003465132 RCV003465133 RCV003465134 RCV003465135 RCV003465136 RCV003465137 RCV003465138 RCV003465139 RCV003465140 RCV003465141 RCV003465142 RCV003465143 RCV003465144 RCV003465145 RCV003465148 RCV004574125 RCV004573364 RCV003988672 RCV004555770 RCV004575390 RCV004575391 RCV004575392 RCV004575393 RCV004575394 RCV004575395 RCV004575396 RCV004575397 RCV004578002 RCV002468580 RCV002248767 RCV000626295 RCV005034308 RCV000779536 RCV000985132 RCV003462590 RCV003462637 RCV001251462 RCV001262946 RCV001262960 RCV004799555
BBS9-related disorder	Pathogenic; Likely pathogenic	rs1266192229, rs1454474832, rs998200637, rs201938124, rs137852858, rs606231137, rs749783672, rs928813600, rs775081992, rs932364060, rs137962929, rs747388658, rs1295000119, rs1384578916	RCV003405635 RCV004746418 RCV003973376 RCV004745141 RCV004745142 RCV003421896 RCV004747084 RCV003906343 RCV003409389 RCV003408298 RCV003912812 RCV003419945 RCV004746238 RCV004746297
Nephronophthisis 4	Likely pathogenic; Pathogenic	rs137852856	RCV004813029
Pancreatic adenocarcinoma	Likely pathogenic; Pathogenic	rs201938124	RCV005887226
Retinal dystrophy	Pathogenic; Likely pathogenic	rs137962929, rs998200637, rs606231137, rs767005321	RCV004815751 RCV004816999 RCV004814805 RCV001073836
Retinal vascular dystrophy	Pathogenic	rs775081992	RCV000787795
Retinitis pigmentosa	Likely pathogenic	rs1584179629	RCV000787794

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs35195153	RCV005894368
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	rs61764068	RCV005896666
BBS9-related ciliopathy	Uncertain significance	rs1366355966, rs762045410, rs140821420, rs138436479, rs149042169	RCV005361898 RCV005356280 RCV005361362 RCV005359797 RCV005359888
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs138072724, rs61764068	RCV005889745 RCV005896667
Familial cancer of breast	Conflicting classifications of pathogenicity	rs61764068	RCV005896665
Gastric cancer	Conflicting classifications of pathogenicity	rs138072724	RCV005889746
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs138072724	RCV005889743
Lung cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	rs35195153, rs61764068	RCV005894370 RCV005896670
Lymphoma	Uncertain significance	rs370916293	RCV005901764
Malignant lymphoma, large B-cell, diffuse	Benign	rs1969575	RCV005917267
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	rs138072724	RCV005889744
Melanoma	Conflicting classifications of pathogenicity	rs138072724	RCV005889748
Optic atrophy	Uncertain significance	rs771310981	RCV004813811
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs61764068	RCV005896669
Sarcoma	Conflicting classifications of pathogenicity; Uncertain significance	rs61764068, rs150826095	RCV005896668 RCV005902074
Schizophrenia	Uncertain significance	rs2535614829	RCV002463493
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity; Benign; Likely benign	rs138072724, rs35195153, rs777174661	RCV005889747 RCV005894369 RCV005934956
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs35195153	RCV005894371

Show/Hide Text Mining Associations (34)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)