SF3B2

Chr 11q13.1

splicing factor 3b subunit 2

Aliases:: SAP145, SF3b1, Cus1, SF3b145
MANE:: ENST00000322535.11

OMIM: 605591 ↗NCBI: 10992 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

SF3B2 · Q13435

v62025-08-01

Predicted Aligned Error matrix for SF3B2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

65.7/ 100

Low

895 residues

Confidence breakdown

Very high(≥ 90)13%
Confident(70–90)35%
Low(50–70)19%
Very low(< 50)33%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

craniofacial microsomia
0.66
dengue disease
0.37
neurodegenerative disease
0.30
hereditary disease
0.19
colorectal carcinoma
0.07
head and neck squamous cell carcinoma
0.07
neoplasm
0.05
cardiomyopathy
0.03
hypertrophic cardiomyopathy
0.02
heart failure
0.02

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Splicing factor 3B subunit 2

Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs (PubMed:12234937, PubMed:32494006, PubMed:34822310). The 17S U2 SnRNP complex (1) directly participates in early spliceosome assembly and (2) mediates recognition of the intron branch site during pre-mRNA splicing by promoting the selection of the pre-mRNA branch-site adenosine, the nucleophile for the first step of splicing (PubMed:12234937, PubMed:32494006, PubMed:34822310). Within the 17S U2 SnRNP complex, SF3B2 is part of the SF3B subcomplex, which is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence in pre-mRNA (PubMed:12234937, PubMed:27720643). Sequence independent binding of SF3A and SF3B subcomplexes upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA (PubMed:12234937). May also be involved in the assembly of the 'E' complex (PubMed:10882114). Also acts as a component of the minor spliceosome, which is involved in the splicing of U12-type introns in pre-mRNAs (PubMed:15146077, PubMed:33509932)