BBS2 Gene

Alternative Names

  • BBS2
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OMIM Number

606151

NCBI Gene ID

583

Uniprot ID

Q9BXC9

Length

53,261 bases

No. of Exons

18

No. of isoforms

1

Protein Name

Bardet-Biedl Syndrome 2 Protein

Molecular Mass

79871 Da

Amino Acid Count

721

Genomic Location

chr16:56,470,402-56,520,094

Gene Map Locus
16q13

Description

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. [From Refseq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_031885.4:c.416G>TLebanonchr16:56511214PathogenicPathogenicBardet-Biedl Syndrome 2NG_009312.1:g.14070G>T; NM_031885.4:c.416G>T; NP_114091.3:p.Gly139Val1219081814584
NM_031885.4:c.565C>TTunisiaNC_000016.10:g.56510004G>APathogenicLikely PathogenicBardet-Biedl Syndrome 2NG_009312.1:g.15280C>T; NM_031885.4:c.565C>T; NP_114091.3:p.Arg189Ter1273181642550801
NM_031885.5:c.1015C>TUnited Arab EmiratesNC_000016.10:g.56502382G>ALikely Pathogenic, PathogenicLikely PathogenicBardet-Biedl Syndrome 2NG_009312.2:g.22643C>T; NM_031885.5:c.1015C>T; NP_114091.4:p.Arg339Ter19392271035754
NM_031885.5:c.1080+149G>ASaudi ArabiaNC_000016.10:g.56502168C>TBenignBenignNG_009312.2:g.22857G>A; NM_031885.5:c.1080+149G>A761638681239372
NM_031885.5:c.1207C>TSaudi ArabiaNC_000016.10:g.56501371G>AUncertain SignificanceBenign, PathogenicBardet-Biedl Syndrome 2NG_009312.2:g.23654C>T; NM_031885.5:c.1207C>T; NP_114091.4:p.Arg403Cys766873519319857
NM_031885.5:c.508G>ASaudi ArabiaNC_000016.10:g.56510885C>TLikely Pathogenic, Uncertain SignificanceLikely PathogenicBardet-Biedl Syndrome 2NG_009312.2:g.14140G>A; NM_031885.5:c.508G>A; NP_114091.4:p.Asp170Asn786205498191068
NM_031885.5:c.612+108T>CUnited Arab EmiratesNC_000016.10:g.56509849A>GBenignNG_009312.2:g.15176T>C; NM_031885.5:c.612+108T>C; NP_114091.4:p.?552644555
NM_031885.5:c.700C>TSaudi ArabiaNC_000016.10:g.56506137G>APathogenicPathogenicBardet-Biedl Syndrome 2NG_009312.2:g.18888C>T; NM_031885.5:c.700C>T; NP_114091.4:p.Arg234Ter779690256554001
NM_031885.5:c.718-34G>ASaudi ArabiaNC_000016.10:g.56506070C>TBenign, Likely BenignBenignNG_009312.2:g.18955G>A; NM_031885.5:c.718-34G>A79900021261983
NM_031885.5:c.940+36G>ASaudi ArabiaNC_000016.10:g.56502637C>TBenignNG_009312.2:g.22388G>A; NM_031885.5:c.940+36G>A999043689
NM_031885.5:c.940+96T>ASaudi ArabiaNC_000016.10:g.56502577A>TBenignNG_009312.2:g.22448T>A; NM_031885.5:c.940+96T>A
NM_031885.5:c.943C>TSaudi ArabiaNC_000016.10:g.56502454G>APathogenicPathogenicRetinitis Pigmentosa 74NG_009312.2:g.22571C>T; NM_031885.5:c.943C>T; NP_114091.4:p.Arg315Trp1219081784573
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