BBS4 (Bardet-Biedl syndrome 4)

Gene

• Entrez ID: 585
• Gene name: Bardet-Biedl syndrome 4
• Gene symbol: BBS4
• Synonyms (NCBI Gene): -
• Chromosome: 15
• Chromosome location: 15q24.1
• Summary: This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2277596	A>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs28938468	C>A,G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs75295839	A>C,G	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs113994189	A>-	Pathogenic	Intron variant
rs113994190	G>A,C	Pathogenic	Splice donor variant
rs113994191	A>C,G	Pathogenic	Splice acceptor variant, 5 prime UTR variant
rs113994192	A>G	Pathogenic	Splice acceptor variant
rs121434632	G>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs141511580	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs142692981	A>C,G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, 5 prime UTR variant
rs147202164	A>T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs150395094	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs200113494	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs367882912	T>A,C	Pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs377031435	G>A	Uncertain-significance, pathogenic	Splice acceptor variant
rs398124432	AA>-	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, frameshift variant
rs749017489	G>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs750258633	T>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant
rs770891152	T>A,C	Pathogenic	Non coding transcript variant, stop gained, synonymous variant, coding sequence variant
rs775710800	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs775928735	CTAT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs886039800	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs886039802	C>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, non coding transcript variant
rs886041464	T>A	Pathogenic, likely-pathogenic	Splice donor variant
rs1060503692	T>A	Pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs1465437164	G>A,T	Pathogenic	Intron variant, splice donor variant
rs1555502637	->T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1567412639	C>G	Pathogenic	Intron variant
rs1567427651	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs1595928075	G>A	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, intron variant, coding sequence variant
rs1595935759	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, 5 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT441121	hsa-miR-382-5p	HITS-CLIP	24374217
MIRT441119	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT441118	hsa-miR-127-5p	HITS-CLIP	24374217
MIRT441117	hsa-miR-377-3p	HITS-CLIP	24374217
MIRT441116	hsa-miR-376c-3p	HITS-CLIP	24374217
MIRT441121	hsa-miR-382-5p	HITS-CLIP	24374217
MIRT441119	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT441118	hsa-miR-127-5p	HITS-CLIP	24374217
MIRT441117	hsa-miR-377-3p	HITS-CLIP	24374217
MIRT441116	hsa-miR-376c-3p	HITS-CLIP	24374217
MIRT816872	hsa-miR-1185	CLIP-seq
MIRT816873	hsa-miR-2110	CLIP-seq
MIRT816874	hsa-miR-214	CLIP-seq
MIRT816875	hsa-miR-3119	CLIP-seq
MIRT816876	hsa-miR-3140-3p	CLIP-seq
MIRT816877	hsa-miR-3144-5p	CLIP-seq
MIRT816878	hsa-miR-3150a-3p	CLIP-seq
MIRT816879	hsa-miR-3152-5p	CLIP-seq
MIRT816880	hsa-miR-3158-3p	CLIP-seq
MIRT816881	hsa-miR-3189-3p	CLIP-seq
MIRT816882	hsa-miR-3191	CLIP-seq
MIRT816883	hsa-miR-3605-5p	CLIP-seq
MIRT816884	hsa-miR-3619-5p	CLIP-seq
MIRT816885	hsa-miR-3679-5p	CLIP-seq
MIRT816886	hsa-miR-4291	CLIP-seq
MIRT816887	hsa-miR-4312	CLIP-seq
MIRT816888	hsa-miR-4652-5p	CLIP-seq
MIRT816889	hsa-miR-4685-5p	CLIP-seq
MIRT816890	hsa-miR-4690-5p	CLIP-seq
MIRT816891	hsa-miR-4757-5p	CLIP-seq
MIRT816892	hsa-miR-4774-3p	CLIP-seq
MIRT816893	hsa-miR-512-5p	CLIP-seq
MIRT816894	hsa-miR-544b	CLIP-seq
MIRT816895	hsa-miR-761	CLIP-seq
MIRT816896	hsa-miR-922	CLIP-seq
MIRT1941554	hsa-miR-4464	CLIP-seq
MIRT1941555	hsa-miR-4748	CLIP-seq
MIRT1941556	hsa-miR-4795-3p	CLIP-seq
MIRT1941557	hsa-miR-510	CLIP-seq
MIRT816893	hsa-miR-512-5p	CLIP-seq
MIRT816874	hsa-miR-214	CLIP-seq
MIRT2180322	hsa-miR-3115	CLIP-seq
MIRT816884	hsa-miR-3619-5p	CLIP-seq
MIRT2180323	hsa-miR-3675-5p	CLIP-seq
MIRT816886	hsa-miR-4291	CLIP-seq
MIRT2180324	hsa-miR-486-3p	CLIP-seq
MIRT1941557	hsa-miR-510	CLIP-seq
MIRT816893	hsa-miR-512-5p	CLIP-seq
MIRT816895	hsa-miR-761	CLIP-seq
MIRT816896	hsa-miR-922	CLIP-seq
MIRT2180325	hsa-miR-936	CLIP-seq
MIRT2483700	hsa-miR-105	CLIP-seq
MIRT2483701	hsa-miR-1299	CLIP-seq
MIRT2483702	hsa-miR-1301	CLIP-seq
MIRT2483703	hsa-miR-1321	CLIP-seq
MIRT2483704	hsa-miR-1343	CLIP-seq
MIRT2483705	hsa-miR-196a	CLIP-seq
MIRT2483706	hsa-miR-196b	CLIP-seq
MIRT2483707	hsa-miR-204	CLIP-seq
MIRT2483708	hsa-miR-211	CLIP-seq
MIRT2483709	hsa-miR-2116	CLIP-seq
MIRT2483710	hsa-miR-2117	CLIP-seq
MIRT816874	hsa-miR-214	CLIP-seq
MIRT2483711	hsa-miR-221	CLIP-seq
MIRT2483712	hsa-miR-222	CLIP-seq
MIRT2483713	hsa-miR-3074-5p	CLIP-seq
MIRT2180322	hsa-miR-3115	CLIP-seq
MIRT816875	hsa-miR-3119	CLIP-seq
MIRT2483714	hsa-miR-3126-5p	CLIP-seq
MIRT816876	hsa-miR-3140-3p	CLIP-seq
MIRT2483715	hsa-miR-3154	CLIP-seq
MIRT816880	hsa-miR-3158-3p	CLIP-seq
MIRT2483716	hsa-miR-323b-3p	CLIP-seq
MIRT816884	hsa-miR-3619-5p	CLIP-seq
MIRT2180323	hsa-miR-3675-5p	CLIP-seq
MIRT2483717	hsa-miR-3927	CLIP-seq
MIRT2483718	hsa-miR-3938	CLIP-seq
MIRT2483719	hsa-miR-4270	CLIP-seq
MIRT2483720	hsa-miR-4273	CLIP-seq
MIRT2483721	hsa-miR-4277	CLIP-seq
MIRT816886	hsa-miR-4291	CLIP-seq
MIRT2483722	hsa-miR-4320	CLIP-seq
MIRT2483723	hsa-miR-4441	CLIP-seq
MIRT2483724	hsa-miR-4650-3p	CLIP-seq
MIRT2483725	hsa-miR-4660	CLIP-seq
MIRT2483726	hsa-miR-4677-5p	CLIP-seq
MIRT816889	hsa-miR-4685-5p	CLIP-seq
MIRT816890	hsa-miR-4690-5p	CLIP-seq
MIRT2483727	hsa-miR-4728-5p	CLIP-seq
MIRT2483728	hsa-miR-4739	CLIP-seq
MIRT2483729	hsa-miR-4753-3p	CLIP-seq
MIRT2483730	hsa-miR-4753-5p	CLIP-seq
MIRT2483731	hsa-miR-4755-5p	CLIP-seq
MIRT2483732	hsa-miR-4756-5p	CLIP-seq
MIRT816891	hsa-miR-4757-5p	CLIP-seq
MIRT2483733	hsa-miR-4782-5p	CLIP-seq
MIRT2180324	hsa-miR-486-3p	CLIP-seq
MIRT2483734	hsa-miR-5047	CLIP-seq
MIRT2483735	hsa-miR-5096	CLIP-seq
MIRT1941557	hsa-miR-510	CLIP-seq
MIRT816893	hsa-miR-512-5p	CLIP-seq
MIRT2483736	hsa-miR-513c	CLIP-seq
MIRT2483737	hsa-miR-514b-5p	CLIP-seq
MIRT2483738	hsa-miR-516b	CLIP-seq
MIRT2483739	hsa-miR-623	CLIP-seq
MIRT816895	hsa-miR-761	CLIP-seq
MIRT2483740	hsa-miR-892a	CLIP-seq
MIRT816896	hsa-miR-922	CLIP-seq
MIRT2180325	hsa-miR-936	CLIP-seq
MIRT2483700	hsa-miR-105	CLIP-seq
MIRT2483701	hsa-miR-1299	CLIP-seq
MIRT2483702	hsa-miR-1301	CLIP-seq
MIRT2483703	hsa-miR-1321	CLIP-seq
MIRT2483704	hsa-miR-1343	CLIP-seq
MIRT2483705	hsa-miR-196a	CLIP-seq
MIRT2483706	hsa-miR-196b	CLIP-seq
MIRT2483707	hsa-miR-204	CLIP-seq
MIRT2483708	hsa-miR-211	CLIP-seq
MIRT2483709	hsa-miR-2116	CLIP-seq
MIRT2483710	hsa-miR-2117	CLIP-seq
MIRT816874	hsa-miR-214	CLIP-seq
MIRT2483711	hsa-miR-221	CLIP-seq
MIRT2483712	hsa-miR-222	CLIP-seq
MIRT2483713	hsa-miR-3074-5p	CLIP-seq
MIRT2180322	hsa-miR-3115	CLIP-seq
MIRT816875	hsa-miR-3119	CLIP-seq
MIRT2483714	hsa-miR-3126-5p	CLIP-seq
MIRT816876	hsa-miR-3140-3p	CLIP-seq
MIRT2483715	hsa-miR-3154	CLIP-seq
MIRT816880	hsa-miR-3158-3p	CLIP-seq
MIRT2483716	hsa-miR-323b-3p	CLIP-seq
MIRT816884	hsa-miR-3619-5p	CLIP-seq
MIRT2180323	hsa-miR-3675-5p	CLIP-seq
MIRT2483717	hsa-miR-3927	CLIP-seq
MIRT2483718	hsa-miR-3938	CLIP-seq
MIRT2483719	hsa-miR-4270	CLIP-seq
MIRT2483720	hsa-miR-4273	CLIP-seq
MIRT2483721	hsa-miR-4277	CLIP-seq
MIRT816886	hsa-miR-4291	CLIP-seq
MIRT2483722	hsa-miR-4320	CLIP-seq
MIRT2483723	hsa-miR-4441	CLIP-seq
MIRT2483724	hsa-miR-4650-3p	CLIP-seq
MIRT2483725	hsa-miR-4660	CLIP-seq
MIRT2483726	hsa-miR-4677-5p	CLIP-seq
MIRT816889	hsa-miR-4685-5p	CLIP-seq
MIRT816890	hsa-miR-4690-5p	CLIP-seq
MIRT2483727	hsa-miR-4728-5p	CLIP-seq
MIRT2483728	hsa-miR-4739	CLIP-seq
MIRT2483729	hsa-miR-4753-3p	CLIP-seq
MIRT2483730	hsa-miR-4753-5p	CLIP-seq
MIRT2483731	hsa-miR-4755-5p	CLIP-seq
MIRT2483732	hsa-miR-4756-5p	CLIP-seq
MIRT816891	hsa-miR-4757-5p	CLIP-seq
MIRT2483733	hsa-miR-4782-5p	CLIP-seq
MIRT2180324	hsa-miR-486-3p	CLIP-seq
MIRT2483734	hsa-miR-5047	CLIP-seq
MIRT2483735	hsa-miR-5096	CLIP-seq
MIRT1941557	hsa-miR-510	CLIP-seq
MIRT816893	hsa-miR-512-5p	CLIP-seq
MIRT2483736	hsa-miR-513c	CLIP-seq
MIRT2483737	hsa-miR-514b-5p	CLIP-seq
MIRT2483738	hsa-miR-516b	CLIP-seq
MIRT2483739	hsa-miR-623	CLIP-seq
MIRT816895	hsa-miR-761	CLIP-seq
MIRT2483740	hsa-miR-892a	CLIP-seq
MIRT816896	hsa-miR-922	CLIP-seq
MIRT2180325	hsa-miR-936	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IEA
GO:0000226	Process	Microtubule cytoskeleton organization	IEA
GO:0000226	Process	Microtubule cytoskeleton organization	ISS
GO:0000242	Component	Pericentriolar material	IDA	15107855
GO:0000281	Process	Mitotic cytokinesis	IMP	15107855
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0001776	Process	Leukocyte homeostasis	IEA
GO:0001782	Process	B cell homeostasis	IEA
GO:0001843	Process	Neural tube closure	IEA
GO:0001843	Process	Neural tube closure	ISS
GO:0001895	Process	Retina homeostasis	IEA
GO:0001895	Process	Retina homeostasis	ISS
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0001947	Process	Heart looping	ISS
GO:0002260	Process	Lymphocyte homeostasis	IEA
GO:0002262	Process	Myeloid cell homeostasis	IEA
GO:0003085	Process	Negative regulation of systemic arterial blood pressure	IEA
GO:0005515	Function	Protein binding	IPI	15107855, 16327777, 17574030, 18000879, 18762586, 18772192, 19081074, 20080638, 22500027, 23943788, 24550735, 24939912, 25416956, 25552655, 26871637, 27173435, 29039417, 32296183, 32814053, 33144677, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	14520415, 18762586, 22500027, 24550735
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IDA	15107855
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IDA	23943788, 24550735
GO:0005929	Component	Cilium	IEA
GO:0007098	Process	Centrosome cycle	IMP	15107855
GO:0007286	Process	Spermatid development	IEA
GO:0007286	Process	Spermatid development	ISS
GO:0007600	Process	Sensory perception	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007608	Process	Sensory perception of smell	IEA
GO:0007608	Process	Sensory perception of smell	ISS
GO:0008104	Process	Intracellular protein localization	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016358	Process	Dendrite development	IEA
GO:0016358	Process	Dendrite development	ISS
GO:0019216	Process	Regulation of lipid metabolic process	IEA
GO:0019216	Process	Regulation of lipid metabolic process	ISS
GO:0021591	Process	Ventricular system development	IEA
GO:0021756	Process	Striatum development	IEA
GO:0021756	Process	Striatum development	ISS
GO:0021766	Process	Hippocampus development	IEA
GO:0021766	Process	Hippocampus development	ISS
GO:0021987	Process	Cerebral cortex development	IEA
GO:0021987	Process	Cerebral cortex development	ISS
GO:0030030	Process	Cell projection organization	IEA
GO:0030534	Process	Adult behavior	IEA
GO:0030534	Process	Adult behavior	ISS
GO:0030674	Function	Protein-macromolecule adaptor activity	IMP	15107855
GO:0030837	Process	Negative regulation of actin filament polymerization	IEA
GO:0031514	Component	Motile cilium	IDA	18299575
GO:0031514	Component	Motile cilium	IEA
GO:0032391	Component	Photoreceptor connecting cilium	IEA
GO:0032402	Process	Melanosome transport	ISS
GO:0032465	Process	Regulation of cytokinesis	IMP	15107855
GO:0033210	Process	Leptin-mediated signaling pathway	IEA
GO:0033365	Process	Protein localization to organelle	IEA
GO:0034101	Process	Erythrocyte homeostasis	IEA
GO:0034451	Component	Centriolar satellite	IDA	15107855, 23943788, 24550735
GO:0034451	Component	Centriolar satellite	IEA
GO:0034452	Function	Dynactin binding	IDA	15107855
GO:0034454	Process	Microtubule anchoring at centrosome	IMP	15107855
GO:0034464	Component	BBSome	IDA	17574030, 20080638, 24550735
GO:0034464	Component	BBSome	IEA
GO:0034464	Component	BBSome	IPI	19081074
GO:0035176	Process	Social behavior	IEA
GO:0035845	Process	Photoreceptor cell outer segment organization	IEA
GO:0035869	Component	Ciliary transition zone	IDA	23943788
GO:0035869	Component	Ciliary transition zone	IEA
GO:0036064	Component	Ciliary basal body	IBA
GO:0036064	Component	Ciliary basal body	IDA	15107855, 18299575
GO:0038108	Process	Negative regulation of appetite by leptin-mediated signaling pathway	IEA
GO:0038108	Process	Negative regulation of appetite by leptin-mediated signaling pathway	ISS
GO:0040018	Process	Positive regulation of multicellular organism growth	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043014	Function	Alpha-tubulin binding	IDA	17574030
GO:0044321	Process	Response to leptin	IEA
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045444	Process	Fat cell differentiation	ISS
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0045494	Process	Photoreceptor cell maintenance	ISS
GO:0045724	Process	Positive regulation of cilium assembly	IEA
GO:0045724	Process	Positive regulation of cilium assembly	ISS
GO:0046548	Process	Retinal rod cell development	IEA
GO:0046548	Process	Retinal rod cell development	ISS
GO:0048487	Function	Beta-tubulin binding	IDA	17574030
GO:0048854	Process	Brain morphogenesis	IEA
GO:0048854	Process	Brain morphogenesis	ISS
GO:0048872	Process	Homeostasis of number of cells	IEA
GO:0050893	Process	Sensory processing	TAS	14520415
GO:0051457	Process	Maintenance of protein location in nucleus	IGI	15107855
GO:0051492	Process	Regulation of stress fiber assembly	IEA
GO:0060170	Component	Ciliary membrane	IDA	17574030, 19081074
GO:0060170	Component	Ciliary membrane	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	ISS	16399798
GO:0060271	Process	Cilium assembly	NAS	19081074
GO:0060296	Process	Regulation of cilium beat frequency involved in ciliary motility	IEA
GO:0060296	Process	Regulation of cilium beat frequency involved in ciliary motility	ISS
GO:0060324	Process	Face development	IEA
GO:0060612	Process	Adipose tissue development	IEA
GO:0060613	Process	Fat pad development	IEA
GO:0061512	Process	Protein localization to cilium	IBA
GO:0061512	Process	Protein localization to cilium	IEA
GO:0061512	Process	Protein localization to cilium	IMP	23943788
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	22302990
GO:0071539	Process	Protein localization to centrosome	IMP	15107855
GO:0097730	Component	Non-motile cilium	IDA	17574030
GO:0097730	Component	Non-motile cilium	IEA
GO:0120316	Process	Sperm flagellum assembly	IEA
GO:1902855	Process	Regulation of non-motile cilium assembly	IEA
GO:1903546	Process	Protein localization to photoreceptor outer segment	IEA
GO:1905515	Process	Non-motile cilium assembly	IEA
GO:1905515	Process	Non-motile cilium assembly	ISS

Other IDs

• MIM: 600374
• HGNC: 969
• e!Ensembl: ENSG00000140463

Protein

• UniProt ID: Q96RK4
• Protein name: BBSome complex member BBS4 (Bardet-Biedl syndrome 4 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: 6XT9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13414	TPR_11	108 → 146		Repeat
  PF13414	TPR_11	175 → 216		Repeat
  PF13181	TPR_8	270 → 303	Tetratricopeptide repeat	Repeat
  PF13181	TPR_8	338 → 369	Tetratricopeptide repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. The highest level of expression is found in the kidney.
• Sequence:

  MAEERVATRTQFPVSTESQKPRQKKAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQ
  ETQGLCEYAIYVQALIFRLEGNIQESLELFQTCAVLSPQSADNLKQVARSLFLLGKHKAA
  IEVYNEAAKLNQKDWEISHNLGVCYIYLKQFNKAQDQLHNALNLNRHDLTYIMLGKIHLL
  EGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQLGIYQKAFEHLGNALTYDPTNYKAIL
  AAGSMMQTHGDFDVALTKYRVVACAVPESPPLWNNIGMCFFGKKKYVAAISCLKRANYLA
  PFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQPKMGELYMLLAVALTNLEDIENAKRA
  YAEAVHLDKCNPLVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDSEMVEM
  AQKLGAALQVGEALVWTKPVKDPKSKHQTTSTSKPASFQQPLGSNQALGQAMSSAAAYRT
  LPSGAGGTSQFTKPPSLPLEPEPAVESSPTETSEQIREK

• Sequence length: 519

Pathways

Reactome:

BBSome-mediated cargo-targeting to cilium

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Bardet-Biedl syndrome	Likely pathogenic; Pathogenic	rs759520211, rs2151048301, rs2151023363, rs889012564, rs1567430070, rs2151055229, rs1338469029, rs1281334523, rs914062190, rs1459736027, rs912967826, rs1358520224, rs2151047525, rs2151044091, rs1456405256, rs2543012369, rs780827837, rs2542996984, rs775903241, rs1180642796, rs1336636537, rs113994190, rs779047261, rs749282837, rs374525425, rs2542892241, rs1419924139, rs2542999063, rs766665064, rs1375331013, rs377031435, rs121434632, rs113994189, rs113994192, rs2542940636, rs886039802, rs886039800, rs886041464, rs2542969236, rs1368727960, rs2542892124, rs750462550, rs2151047618, rs2542931807, rs2065449114, rs1040144478, rs1195131327, rs2542950527, rs2542998198, rs2542973598, rs2542969418, rs2065932064, rs1379874365, rs2543008239, rs1377618677, rs2065911737, rs2542969441, rs2543012535, rs2542940265, rs2543012774, rs2542861731, rs2542940466, rs2542991354, rs113994191, rs775710800, rs367882912, rs1060503692, rs749017489, rs1302879683, rs770891152, rs750258633, rs1465437164, rs1567412639, rs1567427651, rs1226386838, rs372822977, rs1595935759, rs2065331681, rs773109542, rs2065911287, rs2065911518, rs2065474809	RCV001378853 RCV001379459 RCV001390557 RCV001389713 RCV001380673 RCV001380348 RCV002568131 RCV002568924 RCV003633591 RCV002570820 RCV001893429 RCV002029022 RCV001922611 RCV001999726 RCV002021168 RCV002152160 RCV003058480 RCV002619764 RCV002610503 RCV002643779 RCV002650921 RCV002624712 RCV002629533 RCV002638103 RCV002613613 RCV002649972 RCV002740200 RCV002861723 RCV002862916 RCV002952402 RCV002947648 RCV003021815 RCV003024192 RCV000638346 RCV001002881 RCV000020945 RCV000020932 RCV003222516 RCV000256420 RCV000256448 RCV000787534 RCV003633722 RCV003485951 RCV003523201 RCV003779144 RCV003633723 RCV003523202 RCV003523203 RCV003633724 RCV003523956 RCV003523212 RCV003524062 RCV003522114 RCV003524783 RCV003523816 RCV003524571 RCV003524703 RCV003633920 RCV003634600 RCV003634896 RCV003634975 RCV003635128 RCV003635156 RCV003635251 RCV003635181 RCV003635302 RCV000020933 RCV000020934 RCV001199438 RCV000469982 RCV000471858 RCV000462368 RCV002524988 RCV000638368 RCV000702302 RCV000735932 RCV000735930 RCV000735931 RCV005092127 RCV000819631 RCV001002880 RCV001199436 RCV001044016 RCV002556528 RCV001234943 RCV001241101 RCV001240918	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl syndrome 1	Pathogenic; Likely pathogenic	rs1456405256, rs28938468	RCV003229082 RCV003228893	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl syndrome 4	Likely pathogenic; Pathogenic	rs753360929, rs759520211, rs889012564, rs2151055229, rs1338469029, rs1281334523, rs914062190, rs1459736027, rs2151044091, rs2065388358, rs2543012369, rs780827837, rs775903241, rs1180642796, rs1336636537, rs113994190, rs779047261, rs374525425, rs2542892241, rs1419924139, rs766665064, rs113994191, rs912967826, rs377031435, rs767359099, rs2543008067, rs121434632, rs113994189, rs113994192, rs28938468, rs886039802, rs886039800, rs2542932189, rs2542997324, rs2542954655, rs2543017132, rs2542969236, rs1389369745, rs1368727960, rs1034973830, rs886041464, rs2542892124, rs750462550, rs2543012908, rs2542985744, rs2542974244, rs2065331078, rs2543012535, rs2542931853, rs2151047618, rs2542931807, rs1261627387, rs2065449114, rs1040144478, rs2542931886, rs2543008060, rs2543008537, rs2543016391, rs2543008525, rs2542973797, rs2065911737, rs2543017151, rs2542954553, rs2543012789, rs2543011927, rs2065932114, rs2542973531, rs2542973522, rs2542931956, rs2542892142, rs2542969256, rs778082012, rs772574360, rs775710800, rs1060503692, rs1302879683, rs770891152, rs750258633, rs1465437164, rs1226386838, rs775928735, rs200113494, rs2065896039, rs773109542, rs2065449579	RCV003462883 RCV002504633 RCV003136062 RCV003462965 RCV001526709 RCV001535961 RCV001535955 RCV002227526 RCV003464383 RCV005002778 RCV003107988 RCV003138468 RCV003459759 RCV003459762 RCV004572803 RCV003459766 RCV003459767 RCV003459768 RCV003464579 RCV004571215 RCV003464613 RCV005010799 RCV000207846 RCV003459700 RCV000778446 RCV003140670 RCV003140698 RCV000009716 RCV000009717 RCV000009718 RCV000009719 RCV003463722 RCV002500963 RCV003465068 RCV003465070 RCV003465071 RCV003465072 RCV003465073 RCV003465074 RCV003465075 RCV003465076 RCV003465077 RCV003465078 RCV003465079 RCV003465080 RCV003465081 RCV003465082 RCV003465083 RCV003465084 RCV003465085 RCV003465086 RCV003465087 RCV003465089 RCV003465090 RCV003465091 RCV003465092 RCV003465093 RCV003465094 RCV003465095 RCV003465096 RCV003465097 RCV005003683 RCV004574019 RCV004574020 RCV004574021 RCV004574022 RCV004574023 RCV004574024 RCV004574025 RCV004574026 RCV004574027 RCV004574028 RCV004575384 RCV004575385 RCV005222697 RCV000449577 RCV003463973 RCV005010463 RCV003459527 RCV003460976 RCV005004382 RCV005004390 RCV000999693 RCV000985187 RCV001784591 RCV003462632 RCV005005051 RCV001198349	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BBS4-related disorder	Likely pathogenic; Pathogenic	rs2151055229, rs914062190, rs775903241, rs113994190, rs779047261, rs374525425, rs912967826, rs1180642796, rs377031435, rs2542954655, rs370049399, rs2065932114, rs775710800, rs770891152, rs750258633, rs372822977, rs773109542	RCV004749673 RCV004749710 RCV003404113 RCV004750302 RCV004750304 RCV004749936 RCV004750249 RCV004725468 RCV003937879 RCV004750380 RCV003911439 RCV004750477 RCV004748762 RCV003420115 RCV004748910 RCV004749472 RCV004749606	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cholangiocarcinoma	Likely pathogenic	rs200113494	RCV005912120	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon adenocarcinoma	Likely pathogenic; Pathogenic	rs2151055229	RCV005912627	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of esophagus	Likely pathogenic	rs200113494	RCV005912118	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs200113494	RCV005912119	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs377031435, rs2065896039, rs2065735740	RCV000225493 RCV001074631 RCV001074638	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs1459736027	RCV001724373	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs759520211	RCV005912609	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MORBID OBESITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acrocallosal Syndrome	Acrocallosal Syndrome	BEFREE	23142271		★☆☆☆☆ Found in Text Mining only
Anus Neoplasms	Anus neoplasm	Pubtator	35318824	Associate	★☆☆☆☆ Found in Text Mining only
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	11194934, 12016587, 12365916, 12872256, 15107855, 15173597, 15266619, 15649943, 15654695, 15772095, 17959775, 23554981, 25533820, 30902542, 9227203, 9714014, 9888993		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	CLINVAR_DG	11381270, 19402160, 24849935, 27208204, 30614526, 30718709		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	LHGDN	12016587, 12872256		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl syndrome	Bardet-Biedl Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl syndrome 1 (disorder)	Bardet-Biedl Syndrome	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Bardet-Biedl syndrome 4 (disorder)	Bardet-Biedl Syndrome	UNIPROT_DG	11381270, 12016587, 12677556, 12872256, 15666242, 15770229		★☆☆☆☆ Found in Text Mining only
Bardet-Biedl syndrome 4 (disorder)	Bardet-Biedl Syndrome	GENOMICS_ENGLAND_DG	11381270		★☆☆☆☆ Found in Text Mining only
Bardet-Biedl syndrome 4 (disorder)	Bardet-Biedl Syndrome	CLINVAR_DG	12872256, 20498079, 26518167		★☆☆☆☆ Found in Text Mining only
Bardet-Biedl syndrome 4 (disorder)	Bardet-Biedl Syndrome	BEFREE	24691443		★☆☆☆☆ Found in Text Mining only
Bardet-Biedl syndrome 4 (disorder)	Bardet-Biedl Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	12365916		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	12365916		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	30665891		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypoplasia of ovary	Hypoplasia of the ovary	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29549028		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrometrocolpos	Hydrometrocolpos	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	15666242	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development Group II	Cortical development malformation	Pubtator	18762586	Stimulate	★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel Syndrome	BEFREE	28291807		★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	15690372		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nijmegen Breakage Syndrome	Nijmegen Breakage Syndrome	BEFREE	9888993		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	11381270, 15173597, 17003356, 25533820, 29549028, 30902542		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	Pubtator	40389469	Associate	★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	17003356		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	Pubtator	15666242	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	BEFREE	9714014		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	18762586	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	15173597		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	LHGDN	12365916		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	15690372		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	18762586		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	18762586	Associate	★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	35318824	Associate	★☆☆☆☆ Found in Text Mining only