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KATNIP

Synonyms
JBTS26, KIAA0556
External resources
Summary
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.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
11
Likely pathogenic
0
VUS
5,966
Likely benign
3,649
Benign
12

Patient phenotypes

Proportions of phenotypes among 11 patients carring pathogenic or likely pathogenic variants on KATNIP gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
36.4%
Abnormality of the nervous system
36.4%
Abnormality of the eye
27.3%
Abnormality of the immune system
18.2%
Growth abnormality
18.2%
Abnormal cellular phenotype
9.1%
Abnormality of head or neck
9.1%
Abnormality of the cardiovascular system
9.1%
Abnormality of the integument
9.1%
Constitutional symptom
9.1%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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