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

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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.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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