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KRTAP2-4

Synonyms
KAP2.1B, KAP2.3, KAP2.4, KRTAP2-3, KRTAP2.3, KRTAP2.4
External resources
Summary
This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21.

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
410
Likely pathogenic
0
VUS
2,047
Likely benign
0
Benign
0

Patient phenotypes

Proportions of phenotypes among 266 patients carring pathogenic or likely pathogenic variants on KRTAP2-4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.1%
Abnormality of the musculoskeletal system
30.8%
Abnormality of the eye
28.2%
Abnormality of head or neck
23.3%
Growth abnormality
14.3%
Abnormality of the cardiovascular system
12%
Abnormality of the ear
10.9%
Abnormality of the integument
10.5%
Abnormality of limbs
9.4%
Abnormality of the genitourinary system
8.3%
Abnormality of the immune system
5.6%
Abnormality of the endocrine system
4.9%
Abnormality of the digestive system
4.1%
Abnormality of prenatal development or birth
3.8%
Abnormality of blood and blood-forming tissues
3.4%
Neoplasm
2.6%
Abnormal cellular phenotype
1.5%
Constitutional symptom
1.1%
Abnormality of the breast
0.8%
Abnormality of the respiratory system
0.8%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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