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KPNA4

Synonyms
IPOA3, QIP1, SRP3
External resources
Summary
The nuclear import of karyophilic proteins is directed by short amino acid sequences termed nuclear localization signals (NLSs). Karyopherins, or importins, are cytoplasmic proteins that recognize NLSs and dock NLS-containing proteins to the nuclear pore complex. The protein encoded by this gene shares the sequence similarity with Xenopus importin-alpha and Saccharomyces cerevisiae Srp1. This protein is found to interact with the NLSs of DNA helicase Q1 and SV40 T antigen.

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
363
Likely pathogenic
0
VUS
24,190
Likely benign
2,391
Benign
0

Patient phenotypes

Proportions of phenotypes among 362 patients carrying pathogenic or likely pathogenic variants on KPNA4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39%
Abnormality of the musculoskeletal system
27.6%
Abnormality of the eye
22.9%
Abnormality of the cardiovascular system
22.4%
Abnormality of head or neck
20.2%
Abnormality of limbs
13.3%
Abnormality of the genitourinary system
11.9%
Abnormality of the ear
11.6%
Growth abnormality
11%
Abnormality of the integument
10.2%
Abnormality of the digestive system
8%
Abnormality of the endocrine system
7.2%
Abnormality of the immune system
7.2%
Abnormality of blood and blood-forming tissues
3.9%
Neoplasm
3.6%
Abnormality of the respiratory system
3%
Abnormality of prenatal development or birth
2.2%
Abnormal cellular phenotype
1.7%
Abnormality of the breast
1.1%
Constitutional symptom
0.8%
Abnormality of the voice
0.6%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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