KATNIP Chromosome 16
Katanin interacting protein
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What This Gene Does
This gene encodes a novel, evolutionarily conserved, ciliary protein. In human hTERT-RPE1 cells, the protein is found at the base of cilia, decorating the ciliary axoneme, and enriched at the ciliary tip. The protein binds to microtubules in vitro and regulates their stability when it is overexpressed. A null mutation in this gene has been associated with Joubert syndrome, a recessive disorder that is characterized by a distinctive mid-hindbrain and cerebellar malformation and is also often associated with wider ciliopathy symptoms. Consistently, in a serum-starvation ciliogenesis assay, human fibroblast cells derived from patients with the mutation display a reduced number of ciliated cells with abnormally long cilia. [provided by RefSeq, Feb 2016]
Associated Conditions (5)
Joubert syndrome 26
KATNIP-related disorder
Ovarian serous cystadenocarcinoma
Joubert syndrome
See cases
Key Variants
RS112949559
Conflicting classifications of pathogenicity
Health Risk
RS139286639
Conflicting classifications of pathogenicity
Health Risk
RS142375551
Conflicting classifications of pathogenicity
Joubert syndrome 26, Joubert syndrome 26
Health Risk
RS144244281
Conflicting classifications of pathogenicity
KATNIP-related disorder, KATNIP-related disorder
Health Risk
RS147544279
Conflicting classifications of pathogenicity
Health Risk
RS148132134
Conflicting classifications of pathogenicity
Health Risk
RS185801522
Conflicting classifications of pathogenicity
Health Risk
RS200353633
Conflicting classifications of pathogenicity
Health Risk
RS374322406
Conflicting classifications of pathogenicity
Health Risk
RS71389806
Conflicting classifications of pathogenicity
Joubert syndrome 26, Joubert syndrome 26
Health Risk
RS755152073
Conflicting classifications of pathogenicity
Health Risk
RS1245824749
Likely pathogenic
Health Risk
All Variants (40)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112949559 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139286639 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142375551 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 26, Joubert syndrome 26 |
| RS144244281 | Health Risk | Conflicting classifications of pathogenicity | KATNIP-related disorder, KATNIP-related disorder |
| RS147544279 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148132134 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS185801522 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200353633 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374322406 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS71389806 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 26, Joubert syndrome 26 |
| RS755152073 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1245824749 | Health Risk | Likely pathogenic | — |
| RS1249666333 | Health Risk | Likely pathogenic | — |
| RS1254671898 | Health Risk | Likely pathogenic | Joubert syndrome 26, Joubert syndrome 26 |
| RS145247651 | Health Risk | Likely pathogenic | Joubert syndrome 26, Joubert syndrome 26 |
| RS201341558 | Health Risk | Likely pathogenic | KATNIP-related disorder, KATNIP-related disorder |
| RS2082523921 | Health Risk | Likely pathogenic | — |
| RS2144173006 | Health Risk | Likely pathogenic | Joubert syndrome 26, Joubert syndrome 26 |
| RS2543271885 | Health Risk | Likely pathogenic | — |
| RS2543369039 | Health Risk | Likely pathogenic | Joubert syndrome 26, Ovarian serous cystadenocarcinoma, Joubert syndrome 26 |
| RS2544699266 | Health Risk | Likely pathogenic | Joubert syndrome 26, Joubert syndrome 26 |
| RS757493420 | Health Risk | Likely pathogenic | Joubert syndrome 26, Joubert syndrome 26 |
| RS760234960 | Health Risk | Likely pathogenic | — |
| RS770446723 | Health Risk | Likely pathogenic | Joubert syndrome 26, Joubert syndrome 26 |
| RS864309712 | Health Risk | Likely pathogenic | Joubert syndrome, Joubert syndrome 26, Joubert syndrome |
| RS990860262 | Health Risk | Likely pathogenic | KATNIP-related disorder, KATNIP-related disorder |
| RS1226504776 | Health Risk | Pathogenic | — |
| RS1555497891 | Health Risk | Pathogenic | Joubert syndrome 26, Joubert syndrome 26 |
| RS2144229673 | Health Risk | Pathogenic | — |
| RS2543315704 | Health Risk | Pathogenic | — |
| RS2543413175 | Health Risk | Pathogenic | — |
| RS2543413509 | Health Risk | Pathogenic | — |
| RS2544828444 | Health Risk | Pathogenic | — |
| RS768539360 | Health Risk | Pathogenic | — |
| RS771883563 | Health Risk | Pathogenic | — |
| RS773853289 | Health Risk | Pathogenic | — |
| RS774261860 | Health Risk | Pathogenic | Joubert syndrome 26, Joubert syndrome 26 |
| RS1283389193 | Health Risk | Pathogenic/Likely pathogenic | See cases, Joubert syndrome 26, See cases |
| RS748450705 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS755989946 | Health Risk | Pathogenic/Likely pathogenic | KATNIP-related disorder, KATNIP-related disorder |