Details for Gene BBS4

GENE NAME BBS4
CHROMOSOME 15
ENSEMBL ID ENSG00000140463
ENTREZ ID 585
UNIPROT ACCESSION NUMBER Q96RK4
GO MOLECULAR FUNCTION alpha-tubulin binding; dynactin binding; protein binding; protein-macromolecule adaptor activity; beta-tubulin binding; RNA polymerase II-specific DNA-binding transcription factor binding
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-5617833; R-HSA-1852241; R-HSA-5620922; R-HSA-5620920
23 combinations linked to BBS4 OLI1121; OLI1133; OLI617; OLI1146; OLI832; OLI097; OLI082; OLI1132; OLI620; OLI086; OLI325; OLI1130; OLI081; OLI062; OLI614; OLI1116; OLI1124; OLI615; OLI1123; OLI1117; OLI1229; OLI124; OLI125
16 variants linked to BBS4 Copy Number Variant deletion on chromosome 15 of the exon5 6 in the gene BBS4; Copy Number Variant deletion on chromosome 15 of the exon5 6 in the gene BBS4; BBS4:p.P425L; BBS4:p.Met472Val; BBS4:p.Glu61Lys; BBS4:None, p.Thr488Lys; BBS4:c.341delT, p.Leu114TrpfsTer28; BBS4:c.1508C>T, p.Pro503Leu; BBS4:c.137A>G, p.Lys46Arg; BBS4:c.332+2_332+3insTT, ; BBS4:c.1091C>A, p.Ala364Glu; BBS4:c.439T>A, p.Tyr147Asn; BBS4:c.1236A>T, p.Glu412Asp; BBS4:c.181G>A, p.Glu61Lys; BBS4:c.157-3C>G, ; BBS4:c.1463C>A, p.Thr488Lys
4 diseases linked to BBS4 Alström syndrome; McKusick-Kaufman syndrome; Acrocallosal syndrome; Bardet-Biedl syndrome
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