| GENE NAME | BBS5 |
| CHROMOSOME | 2 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000163093 |
| UNIPROT ACCESSION NUMBER | Q8N3I7 |
| GO MOLECULAR FUNCTION | ['RNA polymerase II-specific DNA-binding transcription factor binding', 'phosphatidylinositol-3-phosphate binding', 'protein binding'] |
| ESSENTIAL IN MOUSE | None |
| PATHWAYS | R-HSA-1852241; R-HSA-5617833; R-HSA-5620920; R-HSA-5620922 |
| 9 combinations linked to BBS5 | OLI083; OLI1134; OLI1664; OLI621; OLI617; OLI1125; OLI618; OLI1448; OLI1438 |
| 7 variants linked to BBS5 | Copy Number Variant deletion on chromosome 2 of the exon8 12 in the gene BBS5; BBS5:p.Asn184Ser; BBS5:c.584A>G, p.Asp195Gly; BBS5:c.551A>G, p.Asn184Ser; BBS5:c.751A>G, p.Asn251Asp; BBS5:c.620G>A, p.Arg207His; BBS5:c.198del, p.Val67SerfsTer11 |
| 2 diseases linked to BBS5 | Alström syndrome; Bardet-Biedl syndrome |