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CCNL2

Synonyms
ANIA-6B, CCNM, CCNS, HCLA-ISO, HLA-ISO, PCEE, SB138
External resources
Summary
The protein encoded by this gene belongs to the cyclin family. Through its interaction with several proteins, such as RNA polymerase II, splicing factors, and cyclin-dependent kinases, this protein functions as a regulator of the pre-mRNA splicing process, as well as in inducing apoptosis by modulating the expression of apoptotic and antiapoptotic proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.

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
8
Likely pathogenic
2
VUS
3,301
Likely benign
105
Benign
0

Patient Phenotypes

Proportions of phenotypes among 10 patients carrying pathogenic or likely pathogenic variants on CCNL2 gene are displayed below. The following symptoms were found in patients with a variant in CCNL2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
30%
Abnormality of the nervous system
30%
Abnormality of the immune system
20%
Abnormality of the musculoskeletal system
20%
Constitutional symptom
20%
Abnormality of blood and blood forming tissues
10%
Abnormality of head or neck
10%
Abnormality of limbs
10%
Abnormality of metabolism homeostasis
10%
Abnormality of prenatal development or birth
10%
Abnormality of the cardiovascular system
10%
Abnormality of the digestive system
10%
Abnormality of the ear
10%
Abnormality of the genitourinary system
10%
Abnormality of the integument
10%
Growth abnormality
10%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the endocrine 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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