Gene: IQCB1

Alternate names for this Gene: NPHP5|PIQ|SLSN5

Gene Summary: This 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. A pseudogene of this gene is found on chromosome 6.

Gene is located in Chromosome: 3

Location in Chromosome : 3q13.33|3q21.1

Description of this Gene: IQ motif containing B1

Type of Gene: protein-coding

rs387907009 in IQCB1 gene and Leber Congenital Amaurosis PMID 21220633 2011 Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.

PMID 15723066 2005 Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.

rs1135750 in IQCB1 gene and Lymphocyte Count measurement PMID 22286170 2012 The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.

rs1920296 in IQCB1 gene and Multiple Sclerosis PMID 26920376 2016 Genetic overlap between multiple sclerosis and several cardiovascular disease risk factors.

PMID 24076602 2013 Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

rs1280238814 in IQCB1 gene and Nephronophthisis PMID 25851290 2015 Gene mutation analysis in Iranian children with nephronophthisis: a two-center study.

PMID 20881296 2011 IQCB1 mutations in patients with leber congenital amaurosis.

PMID 24674142 2013 Clinical features and mutation of NPHP5 in two Chinese siblings with Senior-Løken syndrome.

PMID 19430481 2009 A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

PMID 26274329 2015 Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.

PMID 23188109 2012 High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing.

PMID 23446637 2013 Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis.

PMID 15723066 2005 Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.

PMID 24625443 2014 Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.

PMID 28041643 2017 Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

PMID 28832562 2017 A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data.

PMID 21866095 2011 Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.

rs866982675 in IQCB1 gene and Renal dysplasia and retinal aplasia (disorder) PMID 21866095 2011 Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.

PMID 21220633 2011 Four of these have been previously reported in patients with Senior-Loken syndrome (F141del, R461X, H506del, and R489X) and 3 are novel (A111del, E346X, and R455X).

rs121918244 in IQCB1 gene and Retinal Dystrophies PMID 15723066 2005 Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.

rs140630401 in IQCB1 gene and Retinitis Pigmentosa PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs750962965 in IQCB1 gene and Senior-Loken Syndrome 5 PMID 15723066 2005 Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.

PMID 20881296 2011 IQCB1 mutations in patients with leber congenital amaurosis.

PMID 23559409 2013 Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

rs1920296 in IQCB1 gene and Triglycerides measurement PMID 26920376 2016 Genetic overlap between multiple sclerosis and several cardiovascular disease risk factors.