Human Gene SF3B2 (ENST00000322535.11_9) from GENCODE V47lift37
  Description: splicing factor 3b subunit 2 (from RefSeq NM_006842.3)
Gencode Transcript: ENST00000322535.11_9
Gencode Gene: ENSG00000087365.16_14
Transcript (Including UTRs)
   Position: hg19 chr11:65,819,835-65,836,779 Size: 16,945 Total Exon Count: 22 Strand: +
Coding Region
   Position: hg19 chr11:65,819,856-65,836,216 Size: 16,361 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:65,819,835-65,836,779)mRNA (may differ from genome)Protein (895 aa)
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-  Comments and Description Text from UniProtKB
  ID: SF3B2_HUMAN
DESCRIPTION: RecName: Full=Splicing factor 3B subunit 2; AltName: Full=Pre-mRNA-splicing factor SF3b 145 kDa subunit; Short=SF3b145; AltName: Full=SF3b150; AltName: Full=Spliceosome-associated protein 145; Short=SAP 145;
FUNCTION: Subunit of the splicing factor SF3B 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. May also be involved in the assembly of the 'E' complex. Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron.
SUBUNIT: Identified in the spliceosome C complex. Component of the U11/U12 snRNPs that are part of the U12-type spliceosome. Component of splicing factor SF3B which is composed of at least eight subunits; SF3B1/SAP155/SF3B155, SF3B2/SAP145/SF3B145, SF3B3/SAP130/SF3B130, SF3B4/SAP49/SF3B49, SF3B14A, PHF5A/SF3B14B, SF3B10 and SF3B125. SF3B associates with the splicing factor SF3A and a 12S RNA unit to form the U2 small nuclear ribonucleoproteins complex (U2 snRNP). SF3B2 interacts directly with SF3B4. Interacts with HIV-1 Vpr.
SUBCELLULAR LOCATION: Nucleus (By similarity).
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Contains 1 SAP domain.
SEQUENCE CAUTION: Sequence=AAA97461.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAA97461.1; Type=Frameshift; Positions=28; Sequence=AAH53577.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAG61831.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 88.60 RPKM in Testis
Total median expression: 2461.36 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -5.3021-0.252 Picture PostScript Text
3' UTR -173.00563-0.307 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007180 - DUF382
IPR006568 - PSP
IPR003034 - SAP_DNA-bd

Pfam Domains:
PF02037 - SAP domain
PF04037 - Domain of unknown function (DUF382)
PF04046 - PSP

SCOP Domains:
68906 - SAP domain
101447 - Formin homology 2 domain (FH2 domain)

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2DO5 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q13435
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details  Gene DetailsGene Details
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 RGD  WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0005515 protein binding

Biological Process:
GO:0000398 mRNA splicing, via spliceosome
GO:0006397 mRNA processing
GO:0008380 RNA splicing
GO:0016032 viral process

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005681 spliceosomal complex
GO:0005684 U2-type spliceosomal complex
GO:0005686 U2 snRNP
GO:0005689 U12-type spliceosomal complex
GO:0016607 nuclear speck
GO:0071011 precatalytic spliceosome
GO:0071013 catalytic step 2 spliceosome


-  Descriptions from all associated GenBank mRNAs
  LF211161 - JP 2014500723-A/18664: Polycomb-Associated Non-Coding RNAs.
AK290850 - Homo sapiens cDNA FLJ76788 complete cds, highly similar to Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.
BC010372 - Homo sapiens, Similar to RIKEN cDNA 2810441F20 gene, clone IMAGE:4294510, mRNA.
BC053577 - Homo sapiens splicing factor 3b, subunit 2, 145kDa, mRNA (cDNA clone IMAGE:4478742), partial cds.
BX537771 - Homo sapiens mRNA; cDNA DKFZp781L0540 (from clone DKFZp781L0540).
AB463285 - Synthetic construct DNA, clone: pF1KB4690, Homo sapiens SF3B2 gene for splicing factor 3b, subunit 2, without stop codon, in Flexi system.
BC000401 - Homo sapiens splicing factor 3b, subunit 2, 145kDa, mRNA (cDNA clone IMAGE:2822659), partial cds.
U41371 - Human spliceosome associated protein (SAP 145) mRNA, complete cds.
LF344356 - JP 2014500723-A/151859: Polycomb-Associated Non-Coding RNAs.
AK300016 - Homo sapiens cDNA FLJ56485 complete cds, highly similar to Splicing factor 3B subunit 2.
CU675727 - Synthetic construct Homo sapiens gateway clone IMAGE:100018378 5' read SF3B2 mRNA.
JF432116 - Synthetic construct Homo sapiens clone IMAGE:100073255 splicing factor 3b, subunit 2, 145kDa (SF3B2) gene, encodes complete protein.
KJ902182 - Synthetic construct Homo sapiens clone ccsbBroadEn_11576 SF3B2 gene, encodes complete protein.
BC007610 - Homo sapiens splicing factor 3b, subunit 2, 145kDa, mRNA (cDNA clone MGC:15693 IMAGE:3351485), complete cds.
JD025549 - Sequence 6573 from Patent EP1572962.
BC014125 - Homo sapiens splicing factor 3b, subunit 2, 145kDa, mRNA (cDNA clone IMAGE:4562562), partial cds.
BC051237 - Homo sapiens splicing factor 3b, subunit 2, 145kDa, mRNA (cDNA clone IMAGE:6082816), **** WARNING: chimeric clone ****.
AK126488 - Homo sapiens cDNA FLJ44524 fis, clone UTERU3003135.
AK092510 - Homo sapiens cDNA FLJ35191 fis, clone PLACE6016984.
JD278579 - Sequence 259603 from Patent EP1572962.
MA579933 - JP 2018138019-A/151859: Polycomb-Associated Non-Coding RNAs.
MA446738 - JP 2018138019-A/18664: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q13435 (Reactome details) participates in the following event(s):

R-HSA-72124 Formation of the Spliceosomal A Complex
R-HSA-75080 Formation of AT-AC A complex
R-HSA-75083 ATAC spliceosome mediated 3' splice site cleavage, exon ligation
R-HSA-72143 Lariat Formation and 5'-Splice Site Cleavage
R-HSA-72139 Formation of the active Spliceosomal C (B*) complex
R-HSA-72127 Formation of the Spliceosomal B Complex
R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex
R-HSA-156661 Formation of Exon Junction Complex
R-HSA-75081 Formation of AT-AC B Complex
R-HSA-75082 ATAC spliceosome mediated Lariat formation,5' splice site cleavage
R-HSA-75079 Formation of AT-AC C complex
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72165 mRNA Splicing - Minor Pathway
R-HSA-72172 mRNA Splicing
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: A8K485, B4DT19, ENST00000322535.1, ENST00000322535.10, ENST00000322535.2, ENST00000322535.3, ENST00000322535.4, ENST00000322535.5, ENST00000322535.6, ENST00000322535.7, ENST00000322535.8, ENST00000322535.9, NM_006842, Q13435, Q7L4T5, Q7Z627, Q969K1, Q96CM6, Q9BWD2, SAP145, SF3B2_HUMAN, uc317rhj.1, uc317rhj.2
UCSC ID: ENST00000322535.11_9
RefSeq Accession: NM_006842.3
Protein: Q13435 (aka SF3B2_HUMAN or S3B2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.