BBS2 Chromosome 16
Bardet-Biedl syndrome 2
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What This Gene Does
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 encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014]
Gene Info
Gene Group
BBSome
Locus Type
gene with protein product
Location
16q13
Ensembl
ENSG00000125124
Associated Conditions (19)
Bardet-Biedl syndrome
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 1
Retinitis pigmentosa 74
Retinal dystrophy
Early onset severe obesity
BBS2-related disorder
Retinitis pigmentosa
Inborn genetic diseases
Cervical cancer
BBS2-related ciliopathy
Bardet-biedl syndrome 1/2
digenic
BARDET-BIEDL SYNDROME 2/6
DIGENIC
Sarcoma
Retinal disorder
Bardet-biedl syndrome 2/4
Autosomal recessive retinitis pigmentosa
Key Variants
RS11373
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 1
Health Risk
RS115328064
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, BBS2-related disorder
Health Risk
RS117033008
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 2
Health Risk
RS1375309270
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 2, Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
Health Risk
RS1386789664
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS139945733
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, BBS2-related disorder
Health Risk
RS141046144
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
Health Risk
RS141563594
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Retinal dystrophy
Health Risk
RS141683908
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, BBS2-related disorder, Inborn genetic diseases
Health Risk
RS141731677
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, BBS2-related disorder
Health Risk
RS1430976492
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 2, Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
Health Risk
RS1567575193
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 2, Retinitis pigmentosa 74, Bardet-Biedl syndrome 2
Health Risk
All Variants (256)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS773417074 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 2, Bardet-Biedl syndrome, Bardet-Biedl syndrome 2 |
| RS773862084 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 2, Retinitis pigmentosa 74, Bardet-Biedl syndrome |
| RS776681366 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Retinitis pigmentosa 74 |
| RS777218224 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Retinitis pigmentosa 74 |
| RS778090540 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 2, Bardet-Biedl syndrome, Retinitis pigmentosa 74 |
| RS797044632 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2 |