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SF3B2

Synonyms
Cus1, SAP145, SF3B145, SF3b1, SF3b150
External resources
Summary
This gene encodes subunit 2 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 2 associates with pre-mRNA upstream of the branch site at the anchoring site. Subunit 2 also interacts directly with subunit 4 of the splicing factor 3b complex. Subunit 2 is a highly hydrophilic protein with a proline-rich N-terminus and a glutamate-rich stretch in the C-terminus.

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
57
Likely pathogenic
0
VUS
7,590
Likely benign
335
Benign
0

Patient Phenotypes

Proportions of phenotypes among 34 patients carrying pathogenic or likely pathogenic variants on SF3B2 gene are displayed below. The following symptoms were found in patients with a variant in SF3B2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
29.4%
Abnormality of the nervous system
26.5%
Abnormality of the cardiovascular system
23.5%
Abnormality of the ear
23.5%
Abnormality of head or neck
14.7%
Abnormality of the musculoskeletal system
11.8%
Abnormality of the digestive system
5.9%
Abnormality of the immune system
5.9%
Abnormality of blood and blood forming tissues
2.9%
Abnormality of limbs
2.9%
Abnormality of metabolism homeostasis
2.9%
Abnormality of prenatal development or birth
2.9%
Abnormality of the genitourinary system
2.9%
Abnormality of the respiratory system
2.9%
Growth abnormality
2.9%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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