IQCB1 Chromosome 3
IQ motif containing B1
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What This Gene Does
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. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
Armadillo like helical domain containing
Locus Type
gene with protein product
Location
3q13.33
Ensembl
ENSG00000173226
Associated Conditions (13)
See cases
Nephronophthisis
Senior-Loken syndrome 5
IQCB1-related disorder
Retinitis pigmentosa
Inborn genetic diseases
Bardet-Biedl syndrome
Retinal dystrophy
Leber congenital amaurosis
Squamous cell lung carcinoma
Melanoma
Renal dysplasia and retinal aplasia
Retinal disorder
Key Variants
RS1246747991
Conflicting classifications of pathogenicity
See cases, Nephronophthisis, See cases
Health Risk
RS139299149
Conflicting classifications of pathogenicity
Senior-Loken syndrome 5, Nephronophthisis, IQCB1-related disorder
Health Risk
RS139468837
Conflicting classifications of pathogenicity
Nephronophthisis, Senior-Loken syndrome 5, IQCB1-related disorder
Health Risk
RS1398281226
Conflicting classifications of pathogenicity
Nephronophthisis, Senior-Loken syndrome 5, Nephronophthisis
Health Risk
RS1399676175
Conflicting classifications of pathogenicity
Senior-Loken syndrome 5, Nephronophthisis, Senior-Loken syndrome 5
Health Risk
RS140630401
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Senior-Loken syndrome 5, Nephronophthisis
Health Risk
RS145400780
Conflicting classifications of pathogenicity
Nephronophthisis, IQCB1-related disorder, Nephronophthisis
Health Risk
RS146796158
Conflicting classifications of pathogenicity
Nephronophthisis, Inborn genetic diseases, Senior-Loken syndrome 5
Health Risk
RS147708058
Conflicting classifications of pathogenicity
Senior-Loken syndrome 5, Nephronophthisis, Senior-Loken syndrome 5
Health Risk
RS192296154
Conflicting classifications of pathogenicity
Senior-Loken syndrome 5, Nephronophthisis, Senior-Loken syndrome 5
Health Risk
RS199959360
Conflicting classifications of pathogenicity
Nephronophthisis, Senior-Loken syndrome 5, IQCB1-related disorder
Health Risk
RS371057369
Conflicting classifications of pathogenicity
Nephronophthisis, Senior-Loken syndrome 5, Nephronophthisis
Health Risk
All Variants (101)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1064793692 | Health Risk | Pathogenic | — |
| RS1156803164 | Health Risk | Pathogenic | Senior-Loken syndrome 5, Senior-Loken syndrome 5 |
| RS1189770602 | Health Risk | Pathogenic | Nephronophthisis, Senior-Loken syndrome 5, Nephronophthisis |
| RS1189889920 | Health Risk | Pathogenic | Retinal dystrophy, Nephronophthisis, Senior-Loken syndrome 5 |
| RS1201853761 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS121918244 | Health Risk | Pathogenic | Senior-Loken syndrome 5, Nephronophthisis, Retinal dystrophy |
| RS121918245 | Health Risk | Pathogenic | Senior-Loken syndrome 5, Senior-Loken syndrome 5 |
| RS1280238814 | Health Risk | Pathogenic | Nephronophthisis, Retinal dystrophy, Senior-Loken syndrome 5 |
| RS1474058708 | Health Risk | Pathogenic | Senior-Loken syndrome 5, Nephronophthisis, IQCB1-related disorder |
| RS1576559094 | Health Risk | Pathogenic | Renal dysplasia and retinal aplasia, Renal dysplasia and retinal aplasia |
| RS1948507892 | Health Risk | Pathogenic | Senior-Loken syndrome 5, Senior-Loken syndrome 5 |
| RS1948821736 | Health Risk | Pathogenic | Leber congenital amaurosis, Leber congenital amaurosis |
| RS1950522365 | Health Risk | Pathogenic | Senior-Loken syndrome 5, Senior-Loken syndrome 5 |
| RS201405662 | Health Risk | Pathogenic | Leber congenital amaurosis, Nephronophthisis, Senior-Loken syndrome 5 |
| RS2108571563 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS2108591614 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS2108643223 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS2472403686 | Health Risk | Pathogenic | — |
| RS2472427053 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS2472432421 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS2472452798 | Health Risk | Pathogenic | Senior-Loken syndrome 5, Senior-Loken syndrome 5 |
| RS2472458663 | Health Risk | Pathogenic | Senior-Loken syndrome 5, Senior-Loken syndrome 5 |
| RS2547582149 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS2547582262 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS2547597830 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS369936231 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS373909351 | Health Risk | Pathogenic | Senior-Loken syndrome 5, Nephronophthisis, Retinal dystrophy |
| RS387907009 | Health Risk | Pathogenic | Senior-Loken syndrome 5, Nephronophthisis, Leber congenital amaurosis |
| RS398123538 | Health Risk | Pathogenic | Senior-Loken syndrome 5, Retinitis pigmentosa, Nephronophthisis |
| RS727503968 | Health Risk | Pathogenic | Nephronophthisis, Senior-Loken syndrome 5, Nephronophthisis |
| RS727503969 | Health Risk | Pathogenic | Nephronophthisis, Senior-Loken syndrome 5, Nephronophthisis |
| RS745340459 | Health Risk | Pathogenic | Nephronophthisis, Senior-Loken syndrome 5, Retinal dystrophy |
| RS748559081 | Health Risk | Pathogenic | Leber congenital amaurosis, Leber congenital amaurosis |
| RS750962965 | Health Risk | Pathogenic | Senior-Loken syndrome 5, Leber congenital amaurosis, Nephronophthisis |
| RS756943739 | Health Risk | Pathogenic | Senior-Loken syndrome 5, Senior-Loken syndrome 5 |
| RS760296374 | Health Risk | Pathogenic | Senior-Loken syndrome 5, Senior-Loken syndrome 5 |
| RS770441610 | Health Risk | Pathogenic | Nephronophthisis, Senior-Loken syndrome 5, Nephronophthisis |
| RS772827691 | Health Risk | Pathogenic | Nephronophthisis, Senior-Loken syndrome 5, Nephronophthisis |
| RS773848660 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS776023179 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS781508757 | Health Risk | Pathogenic | Nephronophthisis, Senior-Loken syndrome 5, Nephronophthisis |
| RS786200929 | Health Risk | Pathogenic | Senior-Loken syndrome 5, Senior-Loken syndrome 5 |
| RS866982675 | Health Risk | Pathogenic | Renal dysplasia and retinal aplasia, Nephronophthisis, Senior-Loken syndrome 5 |
| RS867772426 | Health Risk | Pathogenic | Nephronophthisis, Senior-Loken syndrome 5, Leber congenital amaurosis |
| RS1193996130 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Senior-Loken syndrome 5, Nephronophthisis |
| RS1949141890 | Health Risk | Pathogenic/Likely pathogenic | Senior-Loken syndrome 5, Senior-Loken syndrome 5 |
| RS1949225959 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Senior-Loken syndrome 5, Nephronophthisis |
| RS1949313357 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, IQCB1-related disorder, Senior-Loken syndrome 5 |
| RS587783011 | Health Risk | Pathogenic/Likely pathogenic | Senior-Loken syndrome 5, Nephronophthisis, Senior-Loken syndrome 5 |
| RS779696701 | Health Risk | Pathogenic/Likely pathogenic | Senior-Loken syndrome 5, Nephronophthisis, Senior-Loken syndrome 5 |