BBS7

Summary

BBS7 (Bardet-Biedl syndrome 7, HGNC:18758) is a protein-coding gene on chromosome 4q27, encoding BBSome complex member BBS7 (Q8IWZ6). The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia.

This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.

Source: NCBI Gene 55212 — RefSeq curated summary.

At a glance

• Gene–disease (curated): BBS7-related ciliopathy (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 3
• Clinical variants (ClinVar): 863 total — 66 pathogenic, 52 likely-pathogenic
• Phenotypes (HPO): 103
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_176824

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18758
Approved symbol	BBS7
Name	Bardet-Biedl syndrome 7
Location	4q27
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10715, BBS2L1
Ensembl gene	ENSG00000138686
Ensembl biotype	protein_coding
OMIM	607590
Entrez	55212

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 8 protein_coding, 3 retained_intron

ENST00000264499, ENST00000502444, ENST00000505692, ENST00000506636, ENST00000507814, ENST00000508536, ENST00000888033, ENST00000888034, ENST00000888035, ENST00000888036, ENST00000959506

RefSeq mRNA: 2 — MANE Select: NM_176824 NM_018190, NM_176824

CCDS: CCDS3724, CCDS54799

Canonical transcript exons

ENST00000264499 — 19 exons

Exon	Start	End
ENSE00000935094	121839631	121839696
ENSE00000935275	121828402	121828505
ENSE00000935276	121828619	121828728
ENSE00000935277	121828146	121828269
ENSE00001016925	121852956	121853086
ENSE00001016926	121855489	121855561
ENSE00001016927	121854704	121854820
ENSE00001016930	121845504	121845696
ENSE00001081545	121843927	121844001
ENSE00001081546	121833231	121833395
ENSE00001081548	121835144	121835283
ENSE00001081549	121847404	121847506
ENSE00001081550	121858992	121859178
ENSE00001081551	121848844	121848928
ENSE00001176925	121870278	121870474
ENSE00001298863	121824329	121825993
ENSE00003469433	121861504	121861679
ENSE00003522290	121867981	121868046
ENSE00003598922	121863217	121863279

Expression profiles

Bgee: expression breadth ubiquitous, 262 present calls, max score 94.91.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.6328 / max 172.2434, expressed in 1803 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
53842	14.9917	1801
53841	0.6411	393

Top tissues by expression

282 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	94.91	gold quality
calcaneal tendon	UBERON:0003701	92.46	gold quality
lateral nuclear group of thalamus	UBERON:0002736	91.87	gold quality
Brodmann (1909) area 23	UBERON:0013554	91.70	gold quality
primary visual cortex	UBERON:0002436	89.42	gold quality
postcentral gyrus	UBERON:0002581	87.96	gold quality
parietal lobe	UBERON:0001872	87.35	gold quality
occipital lobe	UBERON:0002021	87.26	gold quality
prefrontal cortex	UBERON:0000451	87.18	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.82	gold quality
superior frontal gyrus	UBERON:0002661	86.38	gold quality
cortical plate	UBERON:0005343	86.27	gold quality
secondary oocyte	CL:0000655	85.89	gold quality
ganglionic eminence	UBERON:0004023	85.61	gold quality
germinal epithelium of ovary	UBERON:0001304	85.60	gold quality
frontal cortex	UBERON:0001870	85.15	gold quality
stromal cell of endometrium	CL:0002255	85.13	gold quality
oocyte	CL:0000023	85.00	gold quality
substantia nigra pars compacta	UBERON:0001965	84.92	gold quality
adrenal tissue	UBERON:0018303	84.87	gold quality
cerebellar cortex	UBERON:0002129	84.77	gold quality
neocortex	UBERON:0001950	84.74	gold quality
cerebellar hemisphere	UBERON:0002245	84.70	gold quality
tibial artery	UBERON:0007610	84.60	gold quality
popliteal artery	UBERON:0002250	84.59	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	84.56	gold quality
substantia nigra pars reticulata	UBERON:0001966	84.32	gold quality
right hemisphere of cerebellum	UBERON:0014890	84.25	gold quality
left ovary	UBERON:0002119	84.08	gold quality
corpus callosum	UBERON:0002336	84.07	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.20

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

36 targeting BBS7, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-4465	99.71	72.56	2096
HSA-MIR-7154-5P	99.69	70.52	1900
HSA-MIR-1206	99.30	69.32	1016
HSA-MIR-6809-5P	99.13	68.45	1223
HSA-MIR-376A-3P	99.06	69.17	1128
HSA-MIR-376B-3P	99.06	69.17	1128
HSA-MIR-12135	98.99	70.26	1814
HSA-MIR-501-5P	98.77	68.88	1328
HSA-MIR-6796-3P	98.68	65.49	689
HSA-MIR-6755-3P	98.61	66.90	834
HSA-MIR-599	98.32	66.99	1037
HSA-MIR-4778-5P	97.96	68.06	1634
HSA-MIR-4676-5P	97.54	65.29	715

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 10)

• A novel Bardet-Biedl syndrome protein is identified anad characterized. (PMID:12567324)
• This study describes a novel mutation in BBS7 causing Bardet-Biedl syndrome in a Chinese family. (PMID:19093007)
• small role of BBS7 and TTC8 in the overall mutational load of Bardet-Biedl syndrome patients (PMID:19402160)
• BBS7 gene was a novel variant (c.103-1G>A) in the consensus splice acceptor site, which altered the splicing recognition site of ‘AG’ to ‘AA’ at the BBS7 gene intron 2 and exon 3 boundary. (PMID:25553308)
• Sequence variants in BBS7 were identified in families with CRB2-related syndrome. (PMID:27004616)
• Two novel mutations and three previously reported variants, identified in the present study, further extend the body of evidence implicating BBS6, BBS7, BBS8, and BBS10 in causing Bardet-Biedl Syndrome. (PMID:28761321)
• A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family. (PMID:31469663)
• Authors found that within this structure, BBS2 and BBS7 form a tight dimer through a coiled-coil interaction and that BBS9 associates with the dimer via an interaction with the alpha-helical domain of BBS2. Interestingly, a BBS-associated mutation of BBS2 is located in its alpha-helical domain at the interface between BBS2 and BBS9, and binding experiments indicated that this mutation disrupts the BBS2-BBS9 interaction. (PMID:31530639)
• Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model. (PMID:33729075)
• Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations. (PMID:36672825)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	bbs7	ENSDARG00000059911
mus_musculus	Bbs7	ENSMUSG00000037325
rattus_norvegicus	Bbs7	ENSRNOG00000015816
caenorhabditis_elegans		WBGENE00003892

Protein

Protein identifiers

BBSome complex member BBS7 — Q8IWZ6 (reviewed: Q8IWZ6)

Alternative names: BBS2-like protein 1, Bardet-Biedl syndrome 7 protein

All UniProt accessions (2): Q8IWZ6, H0Y973

UniProt curated annotations — full annotation on UniProt →

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 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. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization.

Subunit / interactions. Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with BBS2 (via C-terminus). Interacts with CCDC28B and ALDOB. Interacts with SMO; the interaction is indicative for the association of SMO with the BBsome complex to facilitate ciliary localization of SMO.

Subcellular location. Cell projection. Cilium membrane. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriolar satellite. Cilium basal body.

Tissue specificity. Isoform 2 is ubiquitously expressed. Isoform 1 is expressed in retina, lung, liver, testis, ovary, prostate, small intestine, liver, brain, heart and pancreas.

Disease relevance. Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including BBS7, influence the clinical outcome. Bardet-Biedl syndrome 7 (BBS7) [MIM:615984] A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8IWZ6-1	1, Long, lBBS2L1	yes
Q8IWZ6-2	2, Short, sBBS2L1

RefSeq proteins (2): NP_060660, NP_789794* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR016575	Bardet-Biedl_syndrome_7_prot	Family
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR056332	Beta-prop_BBS7	Domain
IPR056333	BBS7_pf_dom	Domain
IPR056334	BBS7_GAE_dom	Domain
IPR056335	BBS7_hairpin	Domain

Pfam: PF23349, PF23360, PF23361, PF23743

UniProt features (10 total): sequence variant 6, chain 1, modified residue 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IWZ6-F1	92.99	0.84

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 1

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-5620922	BBSome-mediated cargo-targeting to cilium
R-HSA-1852241	Organelle biogenesis and maintenance
R-HSA-5617833	Cilium Assembly
R-HSA-5620920	Cargo trafficking to the periciliary membrane

MSigDB gene sets: 380 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_REGULATION_OF_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS, GOBP_PIGMENT_GRANULE_LOCALIZATION, GOBP_VESICLE_LOCALIZATION, GOBP_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_CELLULAR_PIGMENTATION, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_PIGMENTATION, GOBP_SPECIFICATION_OF_SYMMETRY, GOBP_DIGESTIVE_SYSTEM_DEVELOPMENT, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_EMBRYONIC_HEART_TUBE_DEVELOPMENT, GOBP_REGULATION_OF_CATABOLIC_PROCESS

GO Biological Process (20): eye development (GO:0001654), heart looping (GO:0001947), regulation of transcription by RNA polymerase II (GO:0006357), smoothened signaling pathway (GO:0007224), determination of left/right symmetry (GO:0007368), brain development (GO:0007420), visual perception (GO:0007601), intracellular protein localization (GO:0008104), protein transport (GO:0015031), melanosome transport (GO:0032402), positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436), fat cell differentiation (GO:0045444), digestive tract morphogenesis (GO:0048546), pigment granule aggregation in cell center (GO:0051877), limb development (GO:0060173), cilium assembly (GO:0060271), primary palate development (GO:1903929), non-motile cilium assembly (GO:1905515), heart development (GO:0007507), cell projection organization (GO:0030030)

GO Molecular Function (2): RNA polymerase II-specific DNA-binding transcription factor binding (GO:0061629), protein binding (GO:0005515)

GO Cellular Component (16): photoreceptor outer segment (GO:0001750), nucleus (GO:0005634), centrosome (GO:0005813), cytosol (GO:0005829), axoneme (GO:0005930), membrane (GO:0016020), centriolar satellite (GO:0034451), BBSome (GO:0034464), ciliary basal body (GO:0036064), neuron projection (GO:0043005), ciliary membrane (GO:0060170), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), cilium (GO:0005929), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Cargo trafficking to the periciliary membrane	1
Organelle biogenesis and maintenance	1
Assembly of the 9+0 primary cilium	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	7
cilium	3
animal organ development	2
microtubule organizing center	2
plasma membrane bounded cell projection	2
sensory organ development	1
visual system development	1
embryonic heart tube morphogenesis	1
determination of heart left/right asymmetry	1
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
cell surface receptor signaling pathway	1
determination of bilateral symmetry	1
left/right pattern formation	1
central nervous system development	1
head development	1
sensory perception of light stimulus	1
macromolecule localization	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
melanosome localization	1
establishment of melanosome localization	1
pigment granule transport	1
regulation of proteasomal ubiquitin-dependent protein catabolic process	1
proteasome-mediated ubiquitin-dependent protein catabolic process	1
positive regulation of proteasomal protein catabolic process	1
positive regulation of ubiquitin-dependent protein catabolic process	1
cell differentiation	1
tube morphogenesis	1
digestive tract development	1
establishment of pigment granule localization	1
appendage development	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1

Protein interactions and networks

STRING

1362 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BBS7	BBS9	P78514	999
BBS7	BBS2	Q9BXC9	999
BBS7	BBS5	Q8N3I7	999
BBS7	BBS1	Q8NFJ9	999
BBS7	BBS4	Q96RK4	999
BBS7	TTC8	Q8TAM2	983
BBS7	BBS10	Q8TAM1	981
BBS7	BBS12	Q6ZW61	977
BBS7	RAB3IP	Q96QF0	871
BBS7	CCDC28B	Q9BUN5	847
BBS7	RAB8A	P24407	841
BBS7	MKS1	Q9NXB0	826
BBS7	IFT88	Q13099	818
BBS7	RNF2	Q99496	812
BBS7	LZTFL1	Q9NQ48	812

IntAct

119 interactions, top by confidence:

A	B	Type	Score
BBS1	BBS9	psi-mi:“MI:0914”(association)	0.940
BBS2	BBS7	psi-mi:“MI:0915”(physical association)	0.930
BBS7	BBS2	psi-mi:“MI:0915”(physical association)	0.930
BBS2	BBS9	psi-mi:“MI:0914”(association)	0.920
BBS4	PCM1	psi-mi:“MI:0914”(association)	0.910
BBS7	BBS1	psi-mi:“MI:0914”(association)	0.910
BBS1	BBS7	psi-mi:“MI:0915”(physical association)	0.910
BBS5	BBS9	psi-mi:“MI:0914”(association)	0.890
BBS9	BBS7	psi-mi:“MI:0914”(association)	0.860
BBS7	BBS9	psi-mi:“MI:0914”(association)	0.860
LZTFL1	BBS9	psi-mi:“MI:0914”(association)	0.850
MKKS	BBS12	psi-mi:“MI:0914”(association)	0.830
BBS4	BBIP1	psi-mi:“MI:0914”(association)	0.810
BBS5	BBS7	psi-mi:“MI:0914”(association)	0.790
BBS12	BBS7	psi-mi:“MI:0915”(physical association)	0.780
BBS12	BBS7	psi-mi:“MI:0914”(association)	0.780

BioGRID (141): BBS7 (Affinity Capture-MS), BBS7 (Affinity Capture-MS), BBS7 (Affinity Capture-MS), BBS7 (Affinity Capture-MS), BBS7 (Affinity Capture-MS), BBS7 (Affinity Capture-MS), BBS7 (Affinity Capture-MS), BBS7 (Affinity Capture-MS), BBS7 (Affinity Capture-MS), BBS7 (Affinity Capture-MS), BBS9 (Affinity Capture-MS), BBS7 (Affinity Capture-MS), CNKSR3 (Affinity Capture-MS), BBS4 (Affinity Capture-MS), ZNF655 (Affinity Capture-MS)

ESM2 similar proteins: A0A1L8EXB5, A4QNE6, A8WGF4, C1BK83, O35142, O43684, O55029, P35605, P35606, Q17QU5, Q1JP79, Q1JQB2, Q29RH4, Q29RZ9, Q3UGF1, Q4FZW5, Q4R4I8, Q561Y0, Q5I0B4, Q5M7F6, Q5MNZ6, Q5R664, Q5RB58, Q5U4Y8, Q5VQ78, Q6GNF1, Q6NWV3, Q6PA72, Q6TGU2, Q803V5, Q8AVT9, Q8BGF3, Q8IWZ6, Q8K2G4, Q8L828, Q8NEZ3, Q8VE80, Q92747, Q96J01, Q96MX6

Diamond homologs: Q8IWZ6, Q8K2G4, Q9XW70

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
BBS7	“form complex”	“BBsome complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 65 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
BBSome-mediated cargo-targeting to cilium	14	141.9×	2e-26
Cargo trafficking to the periciliary membrane	12	60.8×	3e-17
Cilium Assembly	15	33.3×	2e-17
Organelle biogenesis and maintenance	15	20.2×	2e-14
Translocation of SLC2A4 (GLUT4) to the plasma membrane	5	15.8×	9e-04
Anchoring of the basal body to the plasma membrane	5	11.5×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
melanosome transport	5	69.6×	6e-07
brain morphogenesis	5	66.6×	7e-07
non-motile cilium assembly	10	52.8×	7e-13
photoreceptor cell maintenance	7	45.6×	2e-08
protein localization to cilium	6	43.8×	4e-07
fat cell differentiation	8	26.4×	8e-08
cilium assembly	15	20.1×	2e-13
visual perception	9	13.0×	1e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

863 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	66
Likely pathogenic	52
Uncertain significance	329
Likely benign	306
Benign	35

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1069619	NM_176824.3(BBS7):c.488del (p.Pro163fs)	Pathogenic
1074079	NM_176824.3(BBS7):c.1663G>T (p.Glu555Ter)	Pathogenic
1363367	NM_176824.3(BBS7):c.1250del (p.Leu417fs)	Pathogenic
1383738	NM_176824.3(BBS7):c.1891-1G>A	Pathogenic
1453288	NM_176824.3(BBS7):c.1510A>T (p.Arg504Ter)	Pathogenic
2019135	NM_176824.3(BBS7):c.386dup (p.Tyr129Ter)	Pathogenic
2027540	NM_176824.3(BBS7):c.1497dup (p.Ile500fs)	Pathogenic
2175976	NM_176824.3(BBS7):c.785_786del (p.Asp262fs)	Pathogenic
236452	NM_176824.3(BBS7):c.1712_1713delinsAGA (p.Ser571Ter)	Pathogenic
2418923	NM_176824.3(BBS7):c.719G>T (p.Gly240Val)	Pathogenic
2498286	NM_176824.3(BBS7):c.68_77del (p.Leu23fs)	Pathogenic
2498293	NM_176824.3(BBS7):c.585dup (p.His196fs)	Pathogenic
2680065	NM_176824.3(BBS7):c.1443T>A (p.Cys481Ter)	Pathogenic
2680067	NM_176824.3(BBS7):c.288_289del (p.Gly97fs)	Pathogenic
2680083	NM_176824.3(BBS7):c.1579dup (p.Cys527fs)	Pathogenic
2691572	NM_176824.3(BBS7):c.569dup (p.Thr191fs)	Pathogenic
2693516	NM_176824.3(BBS7):c.173dup (p.Lys59fs)	Pathogenic
2717354	NM_176824.3(BBS7):c.502C>T (p.Gln168Ter)	Pathogenic
2752986	NM_176824.3(BBS7):c.1042G>T (p.Glu348Ter)	Pathogenic
2758461	NM_176824.3(BBS7):c.1659del (p.Gln553fs)	Pathogenic
2766278	NM_176824.3(BBS7):c.399dup (p.Asp134Ter)	Pathogenic
2794762	NM_176824.3(BBS7):c.423C>A (p.Tyr141Ter)	Pathogenic
2809843	NM_176824.3(BBS7):c.1668_1669delinsAT (p.Ser556_Thr557delinsArgSer)	Pathogenic
2809988	NM_176824.3(BBS7):c.1453C>T (p.Gln485Ter)	Pathogenic
281626	NM_176824.3(BBS7):c.712_715del (p.Arg238fs)	Pathogenic
2819870	NM_176824.3(BBS7):c.1897C>T (p.Gln633Ter)	Pathogenic
2826942	NM_176824.3(BBS7):c.90_91del (p.Arg30fs)	Pathogenic
2853758	NM_176824.3(BBS7):c.1378del (p.Ser460fs)	Pathogenic
3016	NM_176824.3(BBS7):c.632C>T (p.Thr211Ile)	Pathogenic
3017	NM_176824.3(BBS7):c.709_712del (p.Lys237fs)	Pathogenic

SpliceAI

3628 predictions. Top by Δscore:

Variant	Effect	Δscore
4:121828187:T:TA	donor_gain	1.0000
4:121828268:TCCT:T	acceptor_loss	1.0000
4:121828269:CCTAT:C	acceptor_gain	1.0000
4:121828400:A:AC	donor_gain	1.0000
4:121828401:C:CC	donor_gain	1.0000
4:121828504:CT:C	acceptor_gain	1.0000
4:121828506:C:CC	acceptor_gain	1.0000
4:121828521:C:CT	acceptor_gain	1.0000
4:121835131:T:A	donor_gain	1.0000
4:121835138:TCCTA:T	donor_loss	1.0000
4:121835139:CCTAC:C	donor_loss	1.0000
4:121835140:CTA:C	donor_loss	1.0000
4:121835141:TA:T	donor_loss	1.0000
4:121835142:A:C	donor_loss	1.0000
4:121835143:C:CA	donor_loss	1.0000
4:121835279:CGAAT:C	acceptor_gain	1.0000
4:121835282:AT:A	acceptor_gain	1.0000
4:121835284:C:CA	acceptor_loss	1.0000
4:121835284:C:CC	acceptor_gain	1.0000
4:121835290:C:CT	acceptor_gain	1.0000
4:121835291:A:T	acceptor_gain	1.0000
4:121835293:C:CT	acceptor_gain	1.0000
4:121835295:C:CT	acceptor_gain	1.0000
4:121835296:A:T	acceptor_gain	1.0000
4:121839693:TTGA:T	acceptor_gain	1.0000
4:121839694:TGA:T	acceptor_gain	1.0000
4:121839697:C:CC	acceptor_gain	1.0000
4:121839709:CAAAG:C	acceptor_gain	1.0000
4:121839713:G:GC	acceptor_gain	1.0000
4:121845692:CATTC:C	acceptor_gain	1.0000

AlphaMissense

4721 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:121825978:A:G	L677P	1.000
4:121835268:C:G	G463R	1.000
4:121825921:A:G	L696P	0.999
4:121825980:A:C	D676E	0.999
4:121825980:A:T	D676E	0.999
4:121825981:T:A	D676V	0.999
4:121825981:T:C	D676G	0.999
4:121825981:T:G	D676A	0.999
4:121825982:C:G	D676H	0.999
4:121825993:C:T	G672D	0.999
4:121828146:C:G	G672R	0.999
4:121828151:A:G	L670P	0.999
4:121828153:T:A	R669S	0.999
4:121828153:T:G	R669S	0.999
4:121828454:A:G	L613P	0.999
4:121828654:G:T	A584D	0.999
4:121828655:C:G	A584P	0.999
4:121828678:A:G	L576P	0.999
4:121828693:G:A	S571F	0.999
4:121828693:G:T	S571Y	0.999
4:121828698:G:C	N569K	0.999
4:121828698:G:T	N569K	0.999
4:121828705:G:A	S567F	0.999
4:121828706:A:G	S567P	0.999
4:121833246:A:G	L554P	0.999
4:121833340:A:G	W523R	0.999
4:121833340:A:T	W523R	0.999
4:121833381:A:G	L509P	0.999
4:121835177:A:G	L493P	0.999
4:121835183:A:G	L491P	0.999

dbSNP variants (sampled 300 via entrez): RS1000006291 (4:121869115 G>C), RS1000018880 (4:121854133 C>A,T), RS1000020907 (4:121842294 C>A,T), RS1000023502 (4:121846110 A>G), RS1000054516 (4:121864471 A>T), RS1000092928 (4:121839293 A>G), RS1000217542 (4:121849733 G>A,C), RS1000228386 (4:121838526 A>G), RS1000311169 (4:121849528 T>A,C), RS1000493247 (4:121842411 G>A), RS1000551563 (4:121826672 A>C), RS1000604632 (4:121834972 TAAGACA>T), RS1000624926 (4:121840834 T>A,C), RS1000700171 (4:121827359 A>C), RS1000728318 (4:121832396 G>A,C)

Disease associations

OMIM: gene MIM:607590 | disease phenotypes: MIM:209900, MIM:615984, MIM:268000

GenCC curated gene-disease

Disease	Classification	Inheritance
Bardet-Biedl syndrome 7	Definitive	Autosomal recessive
Bardet-Biedl syndrome	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
BBS7-related ciliopathy	Definitive	AR

Mondo (9): Bardet-Biedl syndrome (MONDO:0015229), Bardet-Biedl syndrome 7 (MONDO:0014435), optic atrophy (MONDO:0003608), BBS7-related ciliopathy (MONDO:1040042), Bardet-Biedl syndrome 1 (MONDO:0008854), inherited retinal dystrophy (MONDO:0019118), retinitis pigmentosa (MONDO:0019200), focal segmental glomerulosclerosis (MONDO:0100313), retinal disorder (MONDO:0005283)

Orphanet (3): Bardet-Biedl syndrome (Orphanet:110), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Retinitis pigmentosa (Orphanet:791)

HPO phenotypes

103 total (30 of 103 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000011	Neurogenic bladder
HP:0000028	Cryptorchidism
HP:0000076	Vesicoureteral reflux
HP:0000085	Horseshoe kidney
HP:0000100	Nephrotic syndrome
HP:0000119	Abnormality of the genitourinary system
HP:0000126	Hydronephrosis
HP:0000135	Hypogonadism
HP:0000147	Polycystic ovaries
HP:0000160	Narrow mouth
HP:0000163	Abnormal oral cavity morphology
HP:0000218	High palate
HP:0000272	Malar flattening
HP:0000278	Retrognathia
HP:0000316	Hypertelorism
HP:0000343	Long philtrum
HP:0000358	Posteriorly rotated ears
HP:0000365	Hearing impairment
HP:0000388	Otitis media
HP:0000400	Macrotia
HP:0000426	Prominent nasal bridge
HP:0000470	Short neck
HP:0000483	Astigmatism
HP:0000486	Strabismus
HP:0000490	Deeply set eye
HP:0000494	Downslanted palpebral fissures
HP:0000510	Rod-cone dystrophy
HP:0000512	Abnormal electroretinogram
HP:0000518	Cataract

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST009798_73	Asthma	5.000000e-14
GCST011109_2	Psoriasis	3.000000e-19
GCST90020028_1956	Hip circumference adjusted for BMI	1.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008039	BMI-adjusted hip circumference

MeSH disease descriptors (8)

Descriptor	Name	Tree numbers
D020788	Bardet-Biedl Syndrome	C10.228.140.617.200; C11.270.684.624; C16.131.077.245.125; C16.320.184.125
D005923	Glomerulosclerosis, Focal Segmental	C12.050.351.968.419.570.363.640; C12.200.777.419.570.363.660; C12.950.419.570.363.640
D009896	Optic Atrophy	C10.292.700.225; C11.640.451
D012164	Retinal Diseases	C11.768
D058499	Retinal Dystrophies	C11.768.585.658
D012174	Retinitis Pigmentosa	C11.270.684; C11.768.585.658.500; C16.320.290.684
C565916	Bardet-Biedl Syndrome 7 (supp.)
C537909	Bardet-Biedl syndrome 1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases methylation, increases expression	6
trichostatin A	affects expression, increases expression	2
Tobacco Smoke Pollution	decreases expression, increases expression	2
bisphenol F	affects cotreatment, increases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	decreases methylation	1
Cisplatin	increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Methyl Methanesulfonate	increases expression	1
Progesterone	increases expression	1
Tetrachlorodibenzodioxin	affects cotreatment, increases expression	1
Tretinoin	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Aflatoxin B1	affects expression	1
Particulate Matter	decreases expression, increases abundance	1

Cellosaurus cell lines

1 cell lines: 1 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A0LI	BCHNi001-A	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

283 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00717080	PHASE4	COMPLETED	The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
NCT03746522	PHASE3	COMPLETED	Setmelanotide (RM-493), Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Participants With Moderate to Severe Obesity
NCT04966741	PHASE3	COMPLETED	Setmelanotide in Pediatric Participants With Rare Genetic Diseases of Obesity
NCT05194124	PHASE3	COMPLETED	Phase 3 Crossover Trial of Two Formulations of Setmelanotide in Participants With Specific Gene Defects in the MC4R Pathway
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT07082855	PHASE3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT00000114	PHASE3	COMPLETED	Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa
NCT00000116	PHASE3	COMPLETED	Randomized Trial of DHA for Retinitis Pigmentosa Patients Receiving Vitamin A
NCT00346333	PHASE3	COMPLETED	Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A
NCT01786395	PHASE3	TERMINATED	Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa
NCT04636853	PHASE3	COMPLETED	CB-PRP in Retinitis Pigmentosa and Dry Age-related Macular Degeneration
NCT05537220	PHASE3	ACTIVE_NOT_RECRUITING	Oral N-acetylcysteine for Retinitis Pigmentosa
NCT05800301	PHASE3	COMPLETED	Management of Retinitis Pigmentosa Via Combination of Wharton’s Jelly-derived Mesenchymal Stem Cells and Magnovision
NCT05926583	PHASE3	ACTIVE_NOT_RECRUITING	A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa
NCT06388200	PHASE3	ACTIVE_NOT_RECRUITING	A Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa
NCT07290530	PHASE3	NOT_YET_RECRUITING	24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
NCT03490019	PHASE2	WITHDRAWN	Treatment of Bardet-Biedl-Syndrome With Metformin for Evaluation of a Possible Visual Improvement
NCT03763227	PHASE2	COMPLETED	Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy
NCT04068207	PHASE2	COMPLETED	Minocycline Treatment in Retinitis Pigmentosa
NCT04945772	PHASE2	COMPLETED	Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
NCT00100230	PHASE2	COMPLETED	DHA and X-Linked Retinitis Pigmentosa
NCT00447980	PHASE2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa
NCT00447993	PHASE2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa
NCT01233609	PHASE2	COMPLETED	Trial of Oral Valproic Acid for Retinitis Pigmentosa
NCT01399515	PHASE2	COMPLETED	Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa
NCT01530659	PHASE2	COMPLETED	Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa
NCT01560715	PHASE2	COMPLETED	Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa
NCT02609165	PHASE2	COMPLETED	Nerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema
NCT02661711	PHASE2	COMPLETED	Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study
NCT02804360	PHASE2	UNKNOWN	Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study
NCT02837640	PHASE2	UNKNOWN	Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa
NCT03073733	PHASE2	COMPLETED	Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa
NCT04356716	PHASE2	COMPLETED	Sildenafil for Treatment of Choroidal Ischemia
NCT04604899	PHASE2	COMPLETED	Safety of Repeat Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa
NCT04763369	PHASE2	UNKNOWN	Investigation of Therapeutic Efficacy and Safety of UMSCs for the Management of Retinitis Pigmentosa (RP)
NCT04864496	PHASE2	UNKNOWN	Effects of Treatment With N- Acetylcysteine on Visual Outcomes in Patients With Retinitis Pigmentosa
NCT05085964	PHASE2	TERMINATED	An Open-Label Extension Study to Evaluate Safety & Tolerability of QR-421a in Subjects With Retinitis Pigmentosa
NCT05392179	PHASE2	COMPLETED	A Study in Subjects With Retinitis Pigmentosa
NCT06627179	PHASE2	RECRUITING	Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
NCT06628947	PHASE2	RECRUITING	A Phase II Study of Intravitreal KIO-301 in Patients With Late-stage Retinitis Pigmentosa