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SYTL2

Synonyms
CHR11SYT, EXO4, PPP1R151, SGA72M, SLP2, SLP2A
External resources
Summary
The protein encoded by this gene is a synaptotagmin-like protein (SLP) that belongs to a C2 domain-containing protein family. The SLP homology domain (SHD) of this protein has been shown to specifically bind the GTP-bound form of Ras-related protein Rab-27A (RAB27A). This protein plays a role in RAB27A-dependent vesicle trafficking and controls melanosome distribution in the cell periphery. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

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
33
Likely pathogenic
17
VUS
5,394
Likely benign
1,874
Benign
0

Patient phenotypes

Proportions of phenotypes among 49 patients carring pathogenic or likely pathogenic variants on SYTL2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46.9%
Abnormality of the musculoskeletal system
32.7%
Abnormality of head or neck
20.4%
Abnormality of limbs
16.3%
Abnormality of the ear
16.3%
Abnormality of the digestive system
8.2%
Abnormality of the integument
8.2%
Growth abnormality
8.2%
Abnormality of blood and blood-forming tissues
6.1%
Abnormality of the genitourinary system
6.1%
Abnormality of the cardiovascular system
4.1%
Abnormality of the endocrine system
4.1%
Abnormality of the eye
4.1%
Abnormality of the respiratory system
4.1%
Abnormality of the immune system
2%
Abnormality of the voice
2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%
Neoplasm
0%

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