BBS2 Gene

Alternative Names

BBS2

Length

53,261 bases

No. of Exons

No. of isoforms

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 Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_031885.4:c.416G>T	Lebanon	chr16:56511214	Pathogenic	Pathogenic	Bardet-Biedl Syndrome 2	NG_009312.1:g.14070G>T; NM_031885.4:c.416G>T; NP_114091.3:p.Gly139Val	121908181	4584
NM_031885.4:c.565C>T	Tunisia	NC_000016.10:g.56510004G>A	Pathogenic	Likely Pathogenic	Bardet-Biedl Syndrome 2	NG_009312.1:g.15280C>T; NM_031885.4:c.565C>T; NP_114091.3:p.Arg189Ter	1273181642	550801
NM_031885.5:c.1015C>T	United Arab Emirates	NC_000016.10:g.56502382G>A	Likely Pathogenic, Pathogenic	Likely Pathogenic	Bardet-Biedl Syndrome 2	NG_009312.2:g.22643C>T; NM_031885.5:c.1015C>T; NP_114091.4:p.Arg339Ter	193922710	35754
NM_031885.5:c.1080+149G>A	Saudi Arabia	NC_000016.10:g.56502168C>T	Benign	Benign		NG_009312.2:g.22857G>A; NM_031885.5:c.1080+149G>A	76163868	1239372
NM_031885.5:c.1207C>T	Saudi Arabia	NC_000016.10:g.56501371G>A	Uncertain Significance	Benign, Pathogenic	Bardet-Biedl Syndrome 2	NG_009312.2:g.23654C>T; NM_031885.5:c.1207C>T; NP_114091.4:p.Arg403Cys	766873519	319857
NM_031885.5:c.508G>A	Saudi Arabia	NC_000016.10:g.56510885C>T	Likely Pathogenic, Uncertain Significance	Likely Pathogenic	Bardet-Biedl Syndrome 2	NG_009312.2:g.14140G>A; NM_031885.5:c.508G>A; NP_114091.4:p.Asp170Asn	786205498	191068
NM_031885.5:c.612+108T>C	United Arab Emirates	NC_000016.10:g.56509849A>G		Benign		NG_009312.2:g.15176T>C; NM_031885.5:c.612+108T>C; NP_114091.4:p.?	552644555
NM_031885.5:c.700C>T	Saudi Arabia	NC_000016.10:g.56506137G>A	Pathogenic	Pathogenic	Bardet-Biedl Syndrome 2	NG_009312.2:g.18888C>T; NM_031885.5:c.700C>T; NP_114091.4:p.Arg234Ter	779690256	554001
NM_031885.5:c.718-34G>A	Saudi Arabia	NC_000016.10:g.56506070C>T	Benign, Likely Benign	Benign		NG_009312.2:g.18955G>A; NM_031885.5:c.718-34G>A	79900021	261983
NM_031885.5:c.940+36G>A	Saudi Arabia	NC_000016.10:g.56502637C>T		Benign		NG_009312.2:g.22388G>A; NM_031885.5:c.940+36G>A	999043689
NM_031885.5:c.940+96T>A	Saudi Arabia	NC_000016.10:g.56502577A>T		Benign		NG_009312.2:g.22448T>A; NM_031885.5:c.940+96T>A
NM_031885.5:c.943C>T	Saudi Arabia	NC_000016.10:g.56502454G>A	Pathogenic	Pathogenic	Retinitis Pigmentosa 74	NG_009312.2:g.22571C>T; NM_031885.5:c.943C>T; NP_114091.4:p.Arg315Trp	121908178	4573

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=BBS2

Contributors

Pratibha Nair: 07.07.2021
Asha Deepthi: 16.05.2021
Sayeeda Hana: 10.04.2020

Edit History

Sami Bizzari: 22.11.2022
Sayeeda Hana: 20.07.2022
Pratibha Nair: 07.07.2021
Asha Deepthi: 16.05.2021
Asha Deepthi: 23.04.2020
Sayeeda Hana: 10.04.2020

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