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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for IQCB1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID9657
Official gene symbolIQCB1
Full nameIQ motif containing B1
Aliases,NPHP5,PIQ,SLSN5,
Gene summaryThis gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. The encoded protein has a central coiled-coil region and two calmodulin-binding IQ domains. It is localized to the primary cilia of renal epithelial cells and connecting cilia of photoreceptor cells. The protein is thought to play a role in ciliary function. Defects in this gene result in Senior-Loken syndrome type 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq]
LocationChromosome: 3   Locus: 3q13.33|3q21.1
Gene position121553926 - 121488610  Map Viewer
Gene orientationminus
Gene size65317 bp
Gene sequence
OMIM ID609237