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.	585
Gene name Gene Name - the full gene name approved by the HGNC.	Bardet-Biedl syndrome 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	BBS4
Synonyms (NCBI Gene) Gene synonyms aliases	-
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q24.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(31)

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

Show/Hide all(167)

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

Show/Hide all(123)

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

MIM	HGNC	e!Ensembl
600374	969	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

Interactions

View interactions

	Reactome
			BBSome-mediated cargo-targeting to cilium

Show/Hide Causal Diseases (2)

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, Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 1	rs113994190, rs1595935759, rs775710800, rs750258633, rs113994191, rs2065331681, rs1465437164, rs1419924139, rs367882912, rs121434632, rs1060503692, rs1567412639, rs377031435, rs113994189, rs1567427651 View all (13 more)	N/A
retinal dystrophy	Retinal dystrophy	rs377031435, rs2065896039, rs2065735740	N/A

Show/Hide Unknown Diseases (2)

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.
Diabetes	Mild obesity-related type 2 diabetes	N/A	N/A	GWAS
Retinitis Pigmentosa	retinitis pigmentosa	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Anus Neoplasms	Associate	35318824
Bardet Biedl Syndrome	Associate	10577922, 12016587, 12567324, 12677556, 15666242, 33964006, 35318824, 37031301, 37293956, 9227203
Bardet Biedl syndrome 4	Associate	35318824
Le Marec Bracq Picaud syndrome	Associate	35318824
Liver Cirrhosis	Associate	15666242
Malformations of Cortical Development Group II	Stimulate	18762586
Mental Disorders	Associate	18762586
Osteosarcoma	Associate	40389469
Polydactyly	Associate	15666242
Psychotic Disorders	Associate	18762586
Retinal Dystrophies	Associate	9227203
Schizophrenia	Associate	18762586
Urogenital Abnormalities	Associate	35318824

BBS4 (Bardet-Biedl syndrome 4)