Details for Gene BBS2

GENE NAME BBS2
CHROMOSOME 16
ENSEMBL ID None
ENTREZ ID ENSG00000125124
UNIPROT ACCESSION NUMBER Q9BXC9
GO MOLECULAR FUNCTION ['RNA polymerase II-specific DNA-binding transcription factor binding', 'protein binding']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS R-HSA-1852241; R-HSA-5617833; R-HSA-5620920; R-HSA-5620922
33 combinations linked to BBS2 OLI098; OLI081; OLI173; OLI1446; OLI124; OLI1121; OLI1447; OLI041; OLI171; OLI082; OLI144; OLI614; OLI224; OLI417; OLI325; OLI1132; OLI065; OLI1122; OLI832; OLI226; OLI067; OLI125; OLI064; OLI139; OLI1229; OLI170; OLI922; OLI225; OLI172; OLI322; OLI616; OLI176; OLI174
25 variants linked to BBS2 BBS2:p.Leu168fsTer170; BBS2:c.209G>A, p.Ser70Asn; BBS2:c.646C>T, p.Arg216Ter; BBS2:p.Arg315Gln; BBS2:c.117+1G>C, ; BBS2:p.Leu349Trp; BBS2:c.72C>A, p.Tyr24Ter; BBS2:p.Gln59Ter; BBS2:p.Leu125Arg; BBS2:c.311A>C, p.Asp104Ala; BBS2:c.1895G>C, p.Arg632Pro; BBS2:c.1237C>T, p.Arg413Ter; BBS2:c.1928G>A, p.Arg643His; BBS2:c.1659+3A>G, ; BBS2:c.661delC, p.Leu221PhefsTer25; BBS2:c.1707C>T, p.Gln569Ter; BBS2:c.256_278dup, p.Val94SerfsTer8; BBS2:c.1885G>A, p.Glu629Lys; BBS2:c.814C>T, p.Arg272Ter; BBS2:c.986T>C, p.Met329Thr; BBS2:c.823C>T, p.Arg275Ter; BBS2:c.367A>G, p.Ile123Val; BBS2:c.374T>G, p.Leu125Arg; BBS2:c.1673C>T, p.Thr558Ile; BBS2:c.565C>T, p.Arg189Ter
4 diseases linked to BBS2 Alström syndrome; Transposition of the great arteries; Acrocallosal syndrome; Bardet-Biedl syndrome
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