BBS5 Gene

Alternative Names

BBS5

Length

27,176 bases

No. of Exons

No. of isoforms

Protein Name

Bardet-Biedl syndrome 5 protein

Molecular Mass

38755 Da

Amino Acid Count

341

Genomic Location

chr2:169,479,480-169,506,655

Gene Map Locus

2q31.1

Description

The BBS5 gene is located on chromosome 2q31.1 and encodes Bardet-Biedl syndrome 5 protein. Studies in non-human eukaryotes suggested that this protein is localized in ciliated cells and is required for the formation of cilia (ciliogenesis). Mutations in BBS5 gene cause Bardet-Biedl syndrome 5, which is characterized by retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities.

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_152384.3:c.123del	Tunisia	NC_000002.12:g.169482314del	Pathogenic	Likely Pathogenic	Bardet-Biedl syndrome 5	NG_011567.1:g.7819del; NM_152384.3:c.123del; NP_689597.1:p.Gly42fs	1272140892	585187
NM_152384.3:c.132T>G	Saudi Arabia	NC_000002.12:g.169482323T>G		Benign		NG_011567.1:g.7828T>G; NM_152384.3:c.132T>G; NP_689597.1:p.Asn44Lys	1223624496
NM_152384.3:c.158C>T	United Arab Emirates	NC_000002.12:g.169487084C>T		Likely Pathogenic	Bardet-Biedl syndrome 5	NG_011567.1:g.12589C>T; NM_152384.3:c.158C>T; NP_689597.1:p.Thr53Ile
NM_152384.3:c.214G>A	Somalia	NC_000002.12:g.169487811G>A	Pathogenic	Likely Pathogenic	Bardet-Biedl syndrome 5	NG_011567.1:g.13316G>A; NM_152384.3:c.214G>A; NP_689597.1:p.Gly72Ser	121908581	6161
NM_152384.3:c.425T>A	Saudi Arabia	NC_000002.12:g.169492912T>A	Pathogenic	Likely Pathogenic	Bardet-Biedl syndrome 5	NG_011567.1:g.18417T>A; NM_152384.3:c.425T>A; NP_689597.1:p.Leu142Ter	1574339529	6158
NM_152384.3:c.551A>G	Lebanon	chr2:169493769	Benign, Likely Benign	Likely Benign		NG_011567.1:g.19274A>G; NM_152384.3:c.551A>G; NP_689597.1:p.Asn184Ser	137853921	100605
NM_152384.3:c.952GAA[1]	Saudi Arabia	NC_000002.12:g.169504508GAA[1]	Likely Pathogenic	Likely Pathogenic	Bardet-Biedl syndrome 5	NG_011567.1:g.30013GAA[1]; NM_152384.3:c.952GAA[1]; NP_689597.1:p.Glu319del	911725289	191307
NM_152384.3:c.966dup	Saudi Arabia	NC_000002.12:g.169504522dup	Likely Pathogenic	Likely Pathogenic	Bardet-Biedl syndrome 5	NG_011567.1:g.30027dup; NM_152384.3:c.966dup; NP_689597.1:p.Ala323CysfsTer57	1553529427	434496

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External Links

http://www.genecards.org/cgi-bin/carddisp.pl?gene=BBS5

Contributors

Ghazi O. Tadmouri: 31.07.2013
Nada Assaf: 23.01.2013

Edit History

Sayeeda Hana: 20.07.2022
Asha Deepthi: 23.04.2020
Pratibha Nair: 04.08.2013
Sarah Al-Haj Ali: 20.11.2004
Sarah Al-Haj Ali: 10.11.2004
Ghazi O. Tadmouri: 23.08.2004
Ghazi O. Tadmouri: 28.02.2004

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