BBS4 Gene

Alternative Names

BBS4

Length

52,273 bases

No. of Exons

No. of isoforms

Protein Name

Bardet-Biedl syndrome 4 protein

Molecular Mass

58282 Da

Amino Acid Count

519

Genomic Location

chr15:72,686,203-72,738,475

Gene Map Locus

15q24.1

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. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's 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. [From RefSeq]

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_033028.4:c.157-2A>G	Saudi Arabia	NC_000015.10:g.72712242A>G	Pathogenic	Pathogenic	Bardet-Biedl Syndrome 4	NG_009416.2:g.31058A>G; NM_033028.4:c.157-2A>G	113994192	9147
NM_033028.4:c.221-37G>A	Saudi Arabia	NC_000015.10:g.72715254G>A		Benign		NG_009416.2:g.34070G>A; NM_033028.4:c.221-37G>A	74024328
NM_033028.5:c.1091C>A	Saudi Arabia	NC_000015.10:g.72735167C>A	Likely Pathogenic	Likely Pathogenic	Bardet-Biedl Syndrome 4	NG_009416.3:g.53962C>A; NM_033028.5:c.1091C>A; NP_149017.2:p.Ala364Glu	28938468	9148
NM_033028.5:c.1107-45T>C	Saudi Arabia	NC_000015.10:g.72735780T>C				NG_009416.2:g.54596T>C; NM_033028.5:c.1107-45T>C
NM_033028.5:c.1180C>T	Saudi Arabia	NC_000015.10:g.72735898C>T		Pathogenic	Bardet-Biedl Syndrome 4	NG_009416.2:g.54714C>T; NM_033028.5:c.1180C>T; NP_149017.2:p.Gln394Ter
NM_033028.5:c.1248+65C>T	Saudi Arabia	NC_000015.10:g.72736031C>T		Benign		NG_009416.2:g.54847C>T; NM_033028.5:c.1248+65C>T	79602431
NM_033028.5:c.1311_1312insT	Saudi Arabia	NC_000015.10:g.72736824_72736825insT	Likely Pathogenic, Pathogenic	Likely Pathogenic	Retinitis Pigmentosa	NG_009416.3:g.55619_55620insT; NM_033028.5:c.1311_1312insT; NP_149017.2:p.Lys438Ter	1555502637	1324345
NM_033028.5:c.157-3C>G	Iraq	NC_000015.10:g.72712241C>G	Pathogenic	Pathogenic	Bardet-Biedl Syndrome 4	NG_009416.2:g.31057C>G; NM_033028.5:c.157-3C>G	1567412639	585184
NM_033028.5:c.262del	Saudi Arabia	NC_000015.10:g.72715332del		Likely Pathogenic	Retinitis Pigmentosa	NG_009416.3:g.34127del; NM_033028.5:c.262del; NP_149017.2:p.Glu88AsnfsTer54
NM_033028.5:c.405+17C>T	Saudi Arabia	NC_000015.10:g.72716867C>T	Benign	Benign		NG_009416.2:g.35683C>T; NM_033028.5:c.405+17C>T	80334351	262139

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=bbs4

Contributors

Sayeeda Hana: 24.02.2022

Edit History

Sayeeda Hana: 20.07.2022
Sayeeda Hana: 24.02.2022
Sarah Al-Haj Ali: 20.11.2004
Sarah Al-Haj Ali: 10.11.2004

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