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. Splici... See more...

Aliases for SF3B2 Gene

Aliases for SF3B2 Gene

  • Splicing Factor 3b Subunit 2 2 3 5
  • SAP145 2 3 4
  • Splicing Factor 3b, Subunit 2, 145kDa 2 3
  • Splicing Factor 3b, Subunit 2, 145kD 2 3
  • Splicing Factor 3B Subunit 2 3 4
  • SAP 145 3 4
  • SF3b145 2 4
  • SF3b1 2 3
  • Cus1 2 3
  • Pre-MRNA Splicing Factor SF3b 145 KDa Subunit 3
  • Pre-MRNA-Splicing Factor SF3b 145 KDa Subunit 4
  • Spliceosome Associated Protein 145 3
  • Spliceosome-Associated Protein 145 4
  • SF3B145 3
  • SF3b150 3
  • SF3B2 5

External Ids for SF3B2 Gene

Previous GeneCards Identifiers for SF3B2 Gene

  • GC11P068353
  • GC11P067501
  • GC11P066069
  • GC11P065594
  • GC11P065576
  • GC11P065825
  • GC11P065827
  • GC11P062145

Summaries for SF3B2 Gene

Entrez Gene Summary for SF3B2 Gene

  • 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for SF3B2 Gene

SF3B2 (Splicing Factor 3b Subunit 2) is a Protein Coding gene. Diseases associated with SF3B2 include Renal Cell Carcinoma, Papillary, 1 and Pancreatic Adenocarcinoma. Among its related pathways are mRNA Splicing - Major Pathway and mRNA Splicing - Minor Pathway. Gene Ontology (GO) annotations related to this gene include nucleic acid binding.

UniProtKB/Swiss-Prot Summary for SF3B2 Gene

  • Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex (PubMed:27720643). SF3B complex is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex 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). Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron (PubMed:15146077).

Gene Wiki entry for SF3B2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SF3B2 Gene

Genomics for SF3B2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SF3B2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SF3B2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SF3B2

Top Transcription factor binding sites by QIAGEN in the SF3B2 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • Elk-1
  • Max1
  • MIF-1
  • NF-1
  • NF-1/L
  • Pax-5
  • RFX1

Genomic Locations for SF3B2 Gene

Latest Assembly
chr11:66,050,729-66,069,308
(GRCh38/hg38)
Size:
18,580 bases
Orientation:
Plus strand

Previous Assembly
chr11:65,819,835-65,836,779
(GRCh37/hg19 by Entrez Gene)
Size:
16,945 bases
Orientation:
Plus strand

chr11:65,818,200-65,836,779
(GRCh37/hg19 by Ensembl)
Size:
18,580 bases
Orientation:
Plus strand

Genomic View for SF3B2 Gene

Genes around SF3B2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SF3B2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SF3B2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SF3B2 Gene

Proteins for SF3B2 Gene

  • Protein details for SF3B2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13435-SF3B2_HUMAN
    Recommended name:
    Splicing factor 3B subunit 2
    Protein Accession:
    Q13435
    Secondary Accessions:
    • A8K485
    • B4DT19
    • Q7L4T5
    • Q7Z627
    • Q969K1
    • Q96CM6
    • Q9BWD2

    Protein attributes for SF3B2 Gene

    Size:
    895 amino acids
    Molecular mass:
    100228 Da
    Quaternary structure:
    • Identified in the spliceosome C complex (PubMed:11991638). Component of the U11/U12 snRNPs that are part of the U12-type spliceosome (PubMed:15146077). Component of splicing factor SF3B which is composed of at least eight subunits; SF3B1, SF3B2, SF3B3, SF3B4, SF3B5, SF3B6, PHF5A and DDX42 (PubMed:12234937, PubMed:12738865, PubMed:27720643, PubMed:28541300). SF3B associates with the splicing factor SF3A and a 12S RNA unit to form the U2 small nuclear ribonucleoproteins complex (U2 snRNP) (PubMed:12234937). Interacts directly with SF3B4 (PubMed:25737013). The SF3B complex composed of SF3B1, SF3B2, SF3B3, SF3B4, SF3B5, SF3B6 and PHF5A interacts with U2AF2 (PubMed:27720643). Found in a complex with PRMT9, SF3B2 and SF3B4 (PubMed:25737013). Interacts (Arg-508-methylated form) with SMN1 (via Tudor domain) (PubMed:25737013). Interacts with RBM7 (PubMed:27905398). Interacts with ERCC6 (PubMed:26030138).
    • (Microbial infection) Interacts with HIV-1 Vpr.
    SequenceCaution:
    • Sequence=AAA97461.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAA97461.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAH53577.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAG61831.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SF3B2 Gene

neXtProt entry for SF3B2 Gene

Post-translational modifications for SF3B2 Gene

  • Methylation at Arg-508 by PRMT9 is required for the interaction with SMN1.
  • Ubiquitination at Lys275, Lys280, Lys466, Lys486, Lys492, Lys529, Lys570, Lys577, and Lys790
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies for SF3B2
  • Boster Bio Antibodies for SF3B2

No data available for DME Specific Peptides for SF3B2 Gene

Domains & Families for SF3B2 Gene

Gene Families for SF3B2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SF3B2 Gene

InterPro:
Blocks:
  • DNA-binding SAP
  • PSP, proline-rich

Suggested Antigen Peptide Sequences for SF3B2 Gene

GenScript: Design optimal peptide antigens:
  • Spliceosome-associated protein 145 (SF3B2_HUMAN)
genes like me logo Genes that share domains with SF3B2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SF3B2 Gene

Function for SF3B2 Gene

Molecular function for SF3B2 Gene

UniProtKB/Swiss-Prot Function:
Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex (PubMed:27720643). SF3B complex is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex 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). Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron (PubMed:15146077).

Phenotypes From GWAS Catalog for SF3B2 Gene

Gene Ontology (GO) - Molecular Function for SF3B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with SF3B2: view
genes like me logo Genes that share phenotypes with SF3B2: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SF3B2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SF3B2 Gene

Localization for SF3B2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SF3B2 Gene

Nucleus. Nucleus speckle.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SF3B2 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SF3B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 27720643
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex TAS,IDA 9731529
GO:0005684 U2-type spliceosomal complex IBA 21873635
GO:0005686 U2 snRNP IBA 21873635
genes like me logo Genes that share ontologies with SF3B2: view

Pathways & Interactions for SF3B2 Gene

genes like me logo Genes that share pathways with SF3B2: view

Pathways by source for SF3B2 Gene

1 KEGG pathway for SF3B2 Gene

Gene Ontology (GO) - Biological Process for SF3B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006397 mRNA processing TAS 8566756
GO:0008380 RNA splicing TAS 8566756
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with SF3B2: view

No data available for SIGNOR curated interactions for SF3B2 Gene

Drugs & Compounds for SF3B2 Gene

No Compound Related Data Available

Transcripts for SF3B2 Gene

mRNA/cDNA for SF3B2 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SF3B2

Alternative Splicing Database (ASD) splice patterns (SP) for SF3B2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c · 10d ^ 11 ^ 12 ^ 13a ·
SP1: - - -
SP2: - - - - - - -
SP3: -
SP4: -
SP5: - - -
SP6: - - -
SP7:
SP8:
SP9:
SP10: -
SP11:

ExUns: 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for SF3B2 Gene

GeneLoc Exon Structure for
SF3B2

Expression for SF3B2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SF3B2 Gene

Protein differential expression in normal tissues from HIPED for SF3B2 Gene

This gene is overexpressed in Nasal epithelium (9.2) and Peripheral blood mononuclear cells (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SF3B2 Gene



Protein tissue co-expression partners for SF3B2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SF3B2

SOURCE GeneReport for Unigene cluster for SF3B2 Gene:

Hs.406423

Evidence on tissue expression from TISSUES for SF3B2 Gene

  • Lung(4.8)
  • Eye(4.8)
  • Liver(4.6)
  • Blood(4.6)
  • Kidney(4.5)
  • Nervous system(4.4)
  • Skin(3.3)
  • Intestine(3.1)
  • Thyroid gland(2.7)
  • Pancreas(2.5)
  • Heart(2.5)
  • Bone marrow(2.2)
  • Muscle(2.2)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with SF3B2: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SF3B2 Gene

Orthologs for SF3B2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SF3B2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SF3B2 29 30
  • 99.81 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SF3B2 29 30
  • 92.86 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 92 (a)
OneToMany
-- 30
  • 90 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia SF3B2 29 30
  • 91.52 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sf3b2 29
  • 89.79 (n)
Mouse
(Mus musculus)
Mammalia Sf3b2 29 16 30
  • 89.67 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SF3B2 30
  • 83 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SF3B2 30
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sf3b2 29
  • 71.83 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6684 29
Zebrafish
(Danio rerio)
Actinopterygii sf3b2 29 30
  • 72.28 (n)
OneToOne
wufb53c07 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9085 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006240 29
  • 64.68 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG3605 29 30 31
  • 63.55 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea CELE_W03F9.10 29
  • 57.79 (n)
W03F9.10 30 31
  • 49 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CUS1 30 32
  • 30 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT4G21660 29
  • 56.47 (n)
Rice
(Oryza sativa)
Liliopsida Os02g0827300 29
  • 55.92 (n)
Os.26501 29
Barley
(Hordeum vulgare)
Liliopsida Hv.9620 29
Corn
(Zea mays)
Liliopsida Zm.837 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10434 30
  • 62 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.160 29
Species where no ortholog for SF3B2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SF3B2 Gene

ENSEMBL:
Gene Tree for SF3B2 (if available)
TreeFam:
Gene Tree for SF3B2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SF3B2: view image
Alliance of Genome Resources:
Additional Orthologs for SF3B2

Paralogs for SF3B2 Gene

(1) SIMAP similar genes for SF3B2 Gene using alignment to 7 proteins:

  • SF3B2_HUMAN
  • E9PIL8_HUMAN
  • E9PJ04_HUMAN
  • E9PJT3_HUMAN
  • E9PPJ0_HUMAN
  • H0YCG1_HUMAN
  • H0YEX5_HUMAN
genes like me logo Genes that share paralogs with SF3B2: view

No data available for Paralogs for SF3B2 Gene

Variants for SF3B2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SF3B2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs1057519959 Likely Pathogenic: Hepatocellular carcinoma; Chronic lymphocytic leukemia; Breast neoplasm; Malignant melanoma of skin 66,063,028(+) A/C
NM_006842.3(SF3B2):c.1997A>C (p.His666Pro)
MISSENSE
rs1057519960 Likely Pathogenic: Acute myeloid leukemia; Medulloblastoma; Chronic lymphocytic leukemia; Pancreatic adenocarcinoma; Breast neoplasm; Renal cell carcinoma, papillary, 1; Myelodysplastic syndrome 66,063,413(+) A/G
NM_006842.3(SF3B2):c.2099A>G (p.Glu700Gly)
MISSENSE
rs11554199 Benign: not provided 66,052,460(+) G/T
NM_006842.3(SF3B2):c.76G>T (p.Ala26Ser)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SF3B2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Variation tolerance for SF3B2 Gene

Residual Variation Intolerance Score: 4.77% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.60; 56.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SF3B2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SF3B2
Leiden Open Variation Database (LOVD)
SF3B2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SF3B2 Gene

Disorders for SF3B2 Gene

MalaCards: The human disease database

(11) MalaCards diseases for SF3B2 Gene - From: CVR, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search SF3B2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SF3B2

genes like me logo Genes that share disorders with SF3B2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SF3B2 Gene

Publications for SF3B2 Gene

  1. Human immunodeficiency virus type 1 Vpr induces G2 checkpoint activation by interacting with the splicing factor SAP145. (PMID: 16923959) Terada Y … Yasuda Y (Molecular and cellular biology 2006) 3 4 22
  2. Evidence that sequence-independent binding of highly conserved U2 snRNP proteins upstream of the branch site is required for assembly of spliceosomal complex A. (PMID: 8566756) Gozani O … Reed R (Genes & development 1996) 2 3 4
  3. Splicing modulators act at the branch point adenosine binding pocket defined by the PHF5A-SF3b complex. (PMID: 28541300) Teng T … Zhu P (Nature communications 2017) 3 4
  4. Structure of the RBM7-ZCCHC8 core of the NEXT complex reveals connections to splicing factors. (PMID: 27905398) Falk S … Conti E (Nature communications 2016) 3 4
  5. Molecular Architecture of SF3b and Structural Consequences of Its Cancer-Related Mutations. (PMID: 27720643) Cretu C … Pena V (Molecular cell 2016) 3 4

Products for SF3B2 Gene