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SGO1

Synonyms
CAID, NY-BR-85, SGO, SGOL1
External resources
Summary
The protein encoded by this gene is a member of the shugoshin family of proteins. This protein is thought to protect centromeric cohesin from cleavage during mitotic prophase by preventing phosphorylation of a cohesin subunit. Reduced expression of this gene leads to the premature loss of centromeric cohesion, mis-segregation of sister chromatids, and mitotic arrest. Evidence suggests that this protein also protects a small subset of cohesin found along the length of the chromosome arms during mitotic prophase. An isoform lacking exon 6 has been shown to play a role in the cohesion of centrioles (PMID: 16582621 and PMID:18331714). Mutations in this gene have been associated with Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome, characterized by the co-occurrence of Sick Sinus Syndrome (SSS) and Chronic Intestinal Pseudo-obstruction (CIPO) within the first four decades of life (PMID:25282101). Fibroblast cells from CAID patients exhibited both increased cell proliferation and higher rates of senescence. Pseudogenes of this gene have been found on chromosomes 1 and 7. Alternative splicing results in multiple transcript variants.

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
18
Likely pathogenic
1
VUS
1,111
Likely benign
240
Benign
0

Patient Phenotypes

Proportions of phenotypes among 19 patients carrying pathogenic or likely pathogenic variants on SGO1 gene are displayed below. The following symptoms were found in patients with a variant in SGO1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
31.6%
Abnormality of head or neck
26.3%
Abnormality of the cardiovascular system
21.1%
Abnormality of the musculoskeletal system
21.1%
Abnormality of the nervous system
21.1%
Growth abnormality
15.8%
Abnormality of blood and blood forming tissues
10.5%
Abnormality of limbs
10.5%
Abnormality of prenatal development or birth
10.5%
Abnormality of the digestive system
10.5%
Abnormality of the immune system
10.5%
Abnormality of the respiratory system
10.5%
Abnormality of metabolism homeostasis
5.3%
Abnormality of the endocrine system
5.3%
Abnormality of the genitourinary system
5.3%
Abnormality of the integument
5.3%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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