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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

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
27
Likely pathogenic
0
VUS
33,412
Likely benign
4,525
Benign
16

Patient phenotypes

Proportions of phenotypes among 27 patients carrying pathogenic or likely pathogenic variants on KATNIP gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
48.1%
Abnormality of the musculoskeletal system
29.6%
Abnormality of the eye
22.2%
Abnormality of the cardiovascular system
14.8%
Abnormality of head or neck
11.1%
Growth abnormality
11.1%
Abnormality of the ear
7.4%
Abnormality of the genitourinary system
7.4%
Abnormality of the immune system
7.4%
Abnormal cellular phenotype
3.7%
Abnormality of blood and blood-forming tissues
3.7%
Abnormality of limbs
3.7%
Abnormality of the breast
3.7%
Abnormality of the endocrine system
3.7%
Abnormality of the integument
3.7%
Abnormality of the respiratory system
3.7%
Constitutional symptom
3.7%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the digestive system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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