BBS5 Gene

Alternative Names

  • BBS5

Associated Diseases

Bardet-Biedl syndrome 5
Back to search Result
OMIM Number

603650

NCBI Gene ID

129880

Uniprot ID

Q8N3I7

Length

27,176 bases

No. of Exons

12

No. of isoforms

2

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 NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_152384.3:c.123delTunisiaNC_000002.12:g.169482314delPathogenicLikely PathogenicBardet-Biedl syndrome 5 NG_011567.1:g.7819del; NM_152384.3:c.123del; NP_689597.1:p.Gly42fs1272140892585187
NM_152384.3:c.132T>GSaudi ArabiaNC_000002.12:g.169482323T>GBenignNG_011567.1:g.7828T>G; NM_152384.3:c.132T>G; NP_689597.1:p.Asn44Lys1223624496
NM_152384.3:c.158C>TUnited Arab EmiratesNC_000002.12:g.169487084C>TLikely PathogenicBardet-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>ASomaliaNC_000002.12:g.169487811G>APathogenicLikely PathogenicBardet-Biedl syndrome 5 NG_011567.1:g.13316G>A; NM_152384.3:c.214G>A; NP_689597.1:p.Gly72Ser1219085816161
NM_152384.3:c.425T>ASaudi ArabiaNC_000002.12:g.169492912T>APathogenicLikely PathogenicBardet-Biedl syndrome 5 NG_011567.1:g.18417T>A; NM_152384.3:c.425T>A; NP_689597.1:p.Leu142Ter15743395296158
NM_152384.3:c.551A>GLebanonchr2:169493769Benign, Likely BenignLikely BenignNG_011567.1:g.19274A>G; NM_152384.3:c.551A>G; NP_689597.1:p.Asn184Ser137853921100605
NM_152384.3:c.952GAA[1]Saudi ArabiaNC_000002.12:g.169504508GAA[1]Likely PathogenicLikely PathogenicBardet-Biedl syndrome 5 NG_011567.1:g.30013GAA[1]; NM_152384.3:c.952GAA[1]; NP_689597.1:p.Glu319del911725289191307
NM_152384.3:c.966dupSaudi ArabiaNC_000002.12:g.169504522dupLikely PathogenicLikely PathogenicBardet-Biedl syndrome 5 NG_011567.1:g.30027dup; NM_152384.3:c.966dup; NP_689597.1:p.Ala323CysfsTer571553529427434496
© CAGS 2024. All rights reserved.