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FLASH GENE
Symbol PTBP2 contributors: mct/pgu - updated : 20-03-2020
HGNC name polypyrimidine tract binding protein 2
HGNC id 17662
Location 1p21.3      Physical location : 97.187.174 - 97.280.599
Synonym name
  • PTB-like protein
  • neural polypyrimidine tract binding protein
  • neurally-enriched homolog of PTB
  • Synonym symbol(s) PTB, MIBP, PTBLP, FLJ34897, brPTB, nPTB, nPTB5, nPTB6, nPTB7, nPTB8
    DNA
    TYPE functioning gene
    STRUCTURE 102.13 kb     14 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    Binding site   transcription factor
    text structure
  • RNA binding sites
  • proximal promoter, although rich in G+C content and presenting putative binding sites for the transcription factors Sp1, NF-1, NF-kB and Oct-1, lacks a typical TATA box
  • MAPPING cloned Y linked N status provisional
    Physical map
    DR1 1p22.1 down-regulator of transcription 1, TBP-binding (negative cofactor 2) FLJ20275 BCAR3 1p22.1 breast cancer anti-estrogen resistance 3 LOC388651 1 LOC388651 HSU15552 1p22.1 acidic 82 kDa protein mRNA GCLM 1p22.1 glutamate-cysteine ligase, modifier subunit ABCA4 1p22.1 ATP-binding cassette, sub-family A (ABC1), member 4 PARG1 1p22.1 PTPL1-associated RhoGAP 1 LOC391057 1 similar to uracil DNA glycosylase ABCD3 1p22.1-p21.3 ATP-binding cassette, sub-family D (ALD), member 3 F3 1p22.1-p21 coagulation factor III (thromboplastin, tissue factor) MGC45474 1p22.1 hypothetical protein MGC45474 CNN3 1p21 calponin 3, acidic MGC19780 1p22.1 hypothetical protein MGC19780 FLJ31842 1p22.1 hypothetical protein FLJ31842 RWDD3 1p22.1 RWD domain containing 3 LOC388652 1 LOC388652 LOC284555 1p22.1 hypothetical LOC284555 LOC284556 1p22.1 similar to eukaryotic translation elongation factor 1 alpha 1; CTCL tumor antigen; translation elongation factor 1 alpha 1-like 14; prostate tumor-inducing protein 1; EF1a-like protein; glucocorticoid receptor AF-1 specific elongati PTBP2 1p22.11-p21.3 polypyrimidine tract binding protein 2 DPYD 1p22 dihydropyrimidine dehydrogenase SNX7 1p21.2 sorting nexin 7 LOC388653 1 LOC388653 LOC391058 1 similar to 60S ribosomal protein L5 PRG1 10q22.1 proteoglycan 1, secretory granule PALMD 1p22-p21 palmdelphin LOC391059 1 similar to Stromal cell derived factor receptor 2 AGL 1p21 amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III) SLC35A3 1p21 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 HIAT1 1p21.3 hippocampus abundant transcript 1 DKFZp761A078 1p21.3 hypothetical protein DKFZp761A078
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 splicing 3498 57.4 531 fetal brain, lung, neuron, kidney 2016 27681424
  • nptB1, nprB
  • - splicing 760 - 75 fetal brain,lung,non neuronal 2016 27681424
    truncated
    - splicing 770 - 80 fetal brain,lung,non neuronal 2016 27681424
    truncated
    - splicing 760 - 75 fetal lung,non neuronal 2016 27681424
    truncated
    - splicing 780 - 80 fetal lung,non neuronal 2016 27681424
    truncated
    14 - 3527 - 536 non neuronal 2016 27681424
    nptB4
    14 - 12038 - 540 - 2016 27681424
    15 - 12185 - 548 fetal brain, lung, neuron, kidney 2016 27681424
    nptB2, brPTB
    14 - 12029 - 537 fetal brain,lung,non neuronal,kidney 2016 27681424
  • nPTB3 and PTBLP-L
  • 14 - 12014 - 532 - 2016 27681424
    nPTB2 or PTBLP-L)
    13 - 11938 - 480 - 2016 27681424
    EXPRESSION
    Rna function
  • mRNA transcripts are found in neuronal precursor cells and other nonneuronal cells, but in these cells PTBP2 protein expression is repressed
  • Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Nervousbrain   highly
     nerve   predominantly Homo sapiens
    Reproductivemale systemtestis  highly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    four RNA recognition motifs (RRM)
    conjugated sumoylated
    HOMOLOGY
    interspecies ortholog to murine Ptbp2
    homolog to Drosophila CG8831
    intraspecies homolog to PTB
    homolog to SNRP70
    Homologene
    FAMILY PTB (polypyrimidine tract-binding )protein family
    CATEGORY regulatory , RNA associated , antigen
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    text
  • in the spliceosome
  • is a nucleocytoplasmic shuttle protein
  • basic FUNCTION
  • involved in controling the assembly of other splicing-regulatory proteins
  • enhancing the binding of two other proteins (hnRNPH and KSRP) to the DCS RNA
  • possible retinal autoantigen of cancer-associated retinopathy (CAR)
  • potential trans-acting factor that helps to stabilize PGK2 mRNA in male germ cells
  • post-transcriptional switch from PTBP1 to PTBP2 controls a widespread alternative splicing program during neuronal development
  • promoting pre-mRNA 3' end processing in collaboration with hnRNPH
  • PTBP1, a splicing regulator, is replaced in the brain and differentiated neuronal cell lines by PTBP2
  • potential role for PTBP2 in neurogenesis
  • PTBP1 and its brainspecific homologue, PTBP2, are associated with pre-mRNAs and influence pre-mRNA processing, as well as mRNA metabolism and transport
  • controls a genetic program essential for neuronal maturation
  • PTBP2 is required for alternative splicing regulation in the testis, as in brain
  • functions as a key regulator of alternative pre-mRNA splicing in the nucleoplasm and promotes internal ribosome entry site-mediated translation initiation of viral and cellular mRNAs in the cytoplasm
  • PTBP1 and PTBP2, are also nonconserved cryptic exon repressors and PTBP1 and PTBP2, are also nonconserved cryptic exon repressors, and PTBP1 and PTBP2 are members of a family of cryptic exon repressors
  • PTBP1 and PTBP2 reprogram developmental pre-mRNA splicing in neurons
  • PTBP1 and PTBP2 serve both specific and redundant functions in neuronal pre-mRNA splicing
  • PTBP2 controls a network of genes involved in cell adhesion, migration, and polarity, suggesting that splicing regulation by PTBP2 is critical for germ cell communication with Sertoli cells
  • is a key alternative splicing regulator for male germ cell development
  • is an essential factor in heat stress-induced sperm cell injury and non-obstructive azoospermia
  • necessary and sufficient to convert non-neuronal cells to the neuronal lineage
  • is a new possible target for chronic myeloid leukemia (CML) and progressive inclusion/exclusion of PTBP2 exon 10 might play an important role in CML progression
  • PTBP2-orchestrated alternative splicing programming is required for robust generation of a single axon in mammals
  • PTBP1, PTBP2 are essential for B cell development
  • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS
    text differentiation of hematopoietic cells
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA binding to the intronic cluster of RNA regulatory elements, downstream control sequence (DCS)
  • binding to the HBB 3'UTR
  • small molecule
    protein
  • TP53 internal ribosome entry sites (IRES) interacting trans-acting factor (PTBP2 binds specifically to both the TP53 IRESs but with differential affinity)
  • CELF1 interacts with PTB proteins (PTBP1, PTBP2) (CELF1 and PTB proteins modulate the inclusion of TPM2 exon 6B during myogenic differentiation)
  • interacts with AICDA (PTBP2 is thus an effector of class-switch recombination that promotes the binding of AICDA to switch-region DNA)
  • re-expression of PTBP1 or PTBP2 in differentiated neurons inhibited DLG4 expression and impaired the development of glutamatergic synapses
  • cell & other
    REGULATION
    Other PTBP2 is posttranslationally modified by SUMO1
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS