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    SF3B2 splicing factor 3b subunit 2 [ Homo sapiens (human) ]

    Gene ID: 10992, updated on 8-Jan-2023

    Summary

    Official Symbol
    SF3B2provided by HGNC
    Official Full Name
    splicing factor 3b subunit 2provided by HGNC
    Primary source
    HGNC:HGNC:10769
    See related
    Ensembl:ENSG00000087365 MIM:605591; AllianceGenome:HGNC:10769
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CFM; Cus1; SF3b1; SAP145; SF3B145; SF3b150
    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. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 65.1), ovary (RPKM 47.8) and 25 other tissues See more
    Orthologs
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    Genomic context

    See SF3B2 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (66052364..66069308)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (66046496..66063445)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65819835..65836779)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene cation channel sperm associated 1 Neighboring gene galactose-3-O-sulfotransferase 3 Neighboring gene small nucleolar RNA, C/D box 13F Neighboring gene phosphofurin acidic cluster sorting protein 1 Neighboring gene Sharpr-MPRA regulatory region 6316 Neighboring gene small nucleolar RNA U13

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Goldenhar syndrome
    MedGen: C3495417 OMIM: 164210 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of splicing factor 3b, subunit 2 (SF3B2) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify splicing factor 3b subunit 2 (SF3B2; 145kDa), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify splicing factor 3b subunit 2 (SF3B2; 145kDa), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify splicing factor 3b subunit 2 (SF3B2; 145kDa), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify splicing factor 3b subunit 2 (SF3B2; 145kDa), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Vpr vpr Interaction of HIV-1 Vpr with SAP145 inhibits SAP145-SAP49 complex formation PubMed
    vpr HIV-1 Vpr induces checkpoint activation and G2 arrest by binding to the CUS1 domain of SAP145 and interfering with the functions of the SAP145 and SAP49 proteins, two subunits of the multimeric splicing factor 3b (SF3b) PubMed
    vpr HIV-1 Vpr interacts with and co-localizes with SAP145; this interaction is mediated through the C-terminal domain (residues 49-96) of Vpr PubMed
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human splicing factor 3b, subunit 2, 145kDa (SF3B2) at amino acid residues 668-669 by the HIV-1 protease PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in U2-type prespliceosome assembly NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in mRNA processing TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in mRNA splicing, via spliceosome IC
    Inferred by Curator
    more info
    PubMed 
    involved_in mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in mRNA splicing, via spliceosome NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of U12-type spliceosomal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of U12-type spliceosomal complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of U2 snRNP IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of U2 snRNP NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of U2-type precatalytic spliceosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of U2-type spliceosomal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of U2-type spliceosomal complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of catalytic step 2 spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of precatalytic spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of spliceosomal complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of spliceosomal complex NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    splicing factor 3B subunit 2
    Names
    SAP 145
    pre-mRNA splicing factor SF3b 145 kDa subunit
    spliceosome associated protein 145
    splicing factor 3b, subunit 2, 145kD
    splicing factor 3b, subunit 2, 145kDa

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_006842.3NP_006833.2  splicing factor 3B subunit 2

      See identical proteins and their annotated locations for NP_006833.2

      Status: REVIEWED

      Source sequence(s)
      AP006287, BC014125, BC053577, BE677116, BF311442
      Consensus CDS
      CCDS31612.1
      UniProtKB/Swiss-Prot
      Q13435, Q9BWD2
      Related
      ENSP00000318861.6, ENST00000322535.11
      Conserved Domains (3) summary
      COG5182
      Location:442706
      CUS1; Splicing factor 3b, subunit 2 [RNA processing and modification]
      pfam02037
      Location:2457
      SAP; SAP domain
      pfam04037
      Location:471596
      DUF382; Domain of unknown function (DUF382)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      66052364..66069308
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005273726.5XP_005273783.1  splicing factor 3B subunit 2 isoform X2

      See identical proteins and their annotated locations for XP_005273783.1

      Conserved Domains (3) summary
      COG5182
      Location:441705
      CUS1; Splicing factor 3b, subunit 2 [RNA processing and modification]
      pfam02037
      Location:3057
      SAP; SAP domain
      pfam04037
      Location:470595
      DUF382; Domain of unknown function (DUF382)
    2. XM_011544740.4XP_011543042.1  splicing factor 3B subunit 2 isoform X1

      See identical proteins and their annotated locations for XP_011543042.1

      Related
      ENSP00000432655.1, ENST00000528302.5
      Conserved Domains (3) summary
      COG5182
      Location:441705
      CUS1; Splicing factor 3b, subunit 2 [RNA processing and modification]
      pfam02037
      Location:3057
      SAP; SAP domain
      pfam04037
      Location:470595
      DUF382; Domain of unknown function (DUF382)
    3. XM_017017144.3XP_016872633.1  splicing factor 3B subunit 2 isoform X3

      Conserved Domains (3) summary
      COG5182
      Location:440704
      CUS1; Splicing factor 3b, subunit 2 [RNA processing and modification]
      pfam02037
      Location:3057
      SAP; SAP domain
      pfam04037
      Location:469594
      DUF382; Domain of unknown function (DUF382)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      66046496..66063445
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)