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Aliases for PTBP2 Gene

Aliases for PTBP2 Gene

  • Polypyrimidine Tract Binding Protein 2 2 3 5
  • Neurally-Enriched Homolog Of PTB 3 4
  • PTB-Like Protein 3 4
  • PTBLP 3 4
  • NPTB 3 4
  • Neural Polypyrimidine Tract Binding Protein 3
  • Neural Polypyrimidine Tract-Binding Protein 4
  • Polypyrimidine Tract-Binding Protein 2 3
  • BrPTB 3
  • PTB 4

External Ids for PTBP2 Gene

Previous GeneCards Identifiers for PTBP2 Gene

  • GC01P097483
  • GC01P096288
  • GC01P096472
  • GC01P096899
  • GC01P096959
  • GC01P097187
  • GC01P095308

Summaries for PTBP2 Gene

Entrez Gene Summary for PTBP2 Gene

  • The protein encoded by this gene binds to intronic polypyrimidine clusters in pre-mRNA molecules and is implicated in controlling the assembly of other splicing-regulatory proteins. This protein is very similar to the polypyrimidine tract binding protein (PTB) but most of its isoforms are expressed primarily in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

GeneCards Summary for PTBP2 Gene

PTBP2 (Polypyrimidine Tract Binding Protein 2) is a Protein Coding gene. Diseases associated with PTBP2 include Lymph Node Tuberculosis and Cancer-Associated Retinopathy. Among its related pathways are mRNA Splicing - Major Pathway and TarBasePathway. GO annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is PTBP1.

UniProtKB/Swiss-Prot for PTBP2 Gene

  • RNA-binding protein which binds to intronic polypyrimidine tracts and mediates negative regulation of exons splicing. May antagonize in a tissue-specific manner the ability of NOVA1 to activate exon selection. In addition to its function in pre-mRNA splicing, plays also a role in the regulation of translation. Isoform 5 has a reduced affinity for RNA.

Gene Wiki entry for PTBP2 Gene

Additional gene information for PTBP2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTBP2 Gene

Genomics for PTBP2 Gene

Regulatory Elements for PTBP2 Gene

Enhancers for PTBP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H096720 1.2 ENCODE dbSUPER 10.9 +0.6 634 3 FOXA2 SIN3A DMAP1 ZNF2 YY1 GLIS2 ZNF143 ZNF207 ATF7 SP3 PTBP2 GC01M096657
GH01H096715 0.8 ENCODE dbSUPER 5.7 -5.8 -5846 0 MAX POU5F1 USF2 REST PTBP2 RN7SKP270
GH01H096472 0.4 ENCODE 10.9 -248.0 -247951 3 FOS PTBP2 LOC105378866 GC01P096464
GH01H096714 0.4 dbSUPER 10.4 -6.5 -6498 0 POU5F1 USF2 PTBP2 RN7SKP270
GH01H096370 0.8 Ensembl ENCODE 4.3 -350.7 -350672 1 JUND JUN STAT3 CEBPB FOS EP300 TCF7L2 PTBP2 LINC01787 GC01M096016
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PTBP2 on UCSC Golden Path with GeneCards custom track

Promoters for PTBP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000010327 795 2801 FOXA2 SIN3A DMAP1 ZNF2 YY1 GLIS2 ZNF143 ZNF207 ATF7 SP3

Genomic Location for PTBP2 Gene

Chromosome:
1
Start:
96,721,605 bp from pter
End:
96,823,738 bp from pter
Size:
102,134 bases
Orientation:
Plus strand

Genomic View for PTBP2 Gene

Genes around PTBP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTBP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTBP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTBP2 Gene

Proteins for PTBP2 Gene

  • Protein details for PTBP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKA9-PTBP2_HUMAN
    Recommended name:
    Polypyrimidine tract-binding protein 2
    Protein Accession:
    Q9UKA9
    Secondary Accessions:
    • Q8N0Z1
    • Q8N160
    • Q8NFB0
    • Q8NFB1
    • Q969N9
    • Q96Q76

    Protein attributes for PTBP2 Gene

    Size:
    531 amino acids
    Molecular mass:
    57491 Da
    Quaternary structure:
    • Monomer. Interacts with NOVA1; the interaction is direct. Interacts with NOVA2; the interaction is direct (By similarity). Identified in a mRNP complex, at least composed of DHX9, DDX3X, ELAVL1, HNRNPU, IGF2BP1, ILF3, PABPC1, PCBP2, PTBP2, STAU1, STAU2, SYNCRIP and YBX1. Part of a ternary complex containing KHSRP and HNRPH1.

    Three dimensional structures from OCA and Proteopedia for PTBP2 Gene

    Alternative splice isoforms for PTBP2 Gene

neXtProt entry for PTBP2 Gene

Post-translational modifications for PTBP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PTBP2 Gene

Domains & Families for PTBP2 Gene

Gene Families for PTBP2 Gene

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

Protein Domains for PTBP2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PTBP2: view

No data available for UniProtKB/Swiss-Prot for PTBP2 Gene

Function for PTBP2 Gene

Molecular function for PTBP2 Gene

UniProtKB/Swiss-Prot Function:
RNA-binding protein which binds to intronic polypyrimidine tracts and mediates negative regulation of exons splicing. May antagonize in a tissue-specific manner the ability of NOVA1 to activate exon selection. In addition to its function in pre-mRNA splicing, plays also a role in the regulation of translation. Isoform 5 has a reduced affinity for RNA.

Phenotypes From GWAS Catalog for PTBP2 Gene

Gene Ontology (GO) - Molecular Function for PTBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0003729 mRNA binding IEA --
GO:0036002 pre-mRNA binding IEA --
genes like me logo Genes that share ontologies with PTBP2: view
genes like me logo Genes that share phenotypes with PTBP2: view

Animal Models for PTBP2 Gene

MGI Knock Outs for PTBP2:

Animal Model Products

CRISPR Products

miRNA for PTBP2 Gene

miRTarBase miRNAs that target PTBP2

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PTBP2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PTBP2 Gene

Localization for PTBP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTBP2 Gene

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 PTBP2 gene
Compartment Confidence
nucleus 4
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PTBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005681 spliceosomal complex IEA --
GO:0030426 growth cone IEA --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with PTBP2: view

Pathways & Interactions for PTBP2 Gene

genes like me logo Genes that share pathways with PTBP2: view

Pathways by source for PTBP2 Gene

2 BioSystems pathways for PTBP2 Gene

Gene Ontology (GO) - Biological Process for PTBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006376 mRNA splice site selection IEA --
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
GO:0021510 spinal cord development IEA --
GO:0021549 cerebellum development IEA --
genes like me logo Genes that share ontologies with PTBP2: view

No data available for SIGNOR curated interactions for PTBP2 Gene

Drugs & Compounds for PTBP2 Gene

No Compound Related Data Available

Transcripts for PTBP2 Gene

Unigene Clusters for PTBP2 Gene

Polypyrimidine tract binding protein 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PTBP2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for PTBP2 Gene

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

Relevant External Links for PTBP2 Gene

GeneLoc Exon Structure for
PTBP2
ECgene alternative splicing isoforms for
PTBP2

Expression for PTBP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PTBP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PTBP2 Gene

This gene is overexpressed in Testis (32.2), Fetal ovary (12.8), and Fetal Brain (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PTBP2 Gene



Protein tissue co-expression partners for PTBP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PTBP2 Gene:

PTBP2

SOURCE GeneReport for Unigene cluster for PTBP2 Gene:

Hs.743449

mRNA Expression by UniProt/SwissProt for PTBP2 Gene:

Q9UKA9-PTBP2_HUMAN
Tissue specificity: Mainly expressed in brain although also detected in other tissues like heart and skeletal muscle. Isoform 1 and isoform 2 are specifically expressed in neuronal tissues. Isoform 3 and isoform 4 are expressed in non-neuronal tissues. Isoform 5 and isoform 6 are truncated forms expressed in non-neuronal tissues.

Evidence on tissue expression from TISSUES for PTBP2 Gene

  • Nervous system(4.6)
  • Eye(4.3)
  • Lung(4.3)
genes like me logo Genes that share expression patterns with PTBP2: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PTBP2 Gene

Orthologs for PTBP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PTBP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PTBP2 33 34
  • 99.75 (n)
cow
(Bos Taurus)
Mammalia PTBP2 34
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PTBP2 34
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PTBP2 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PTBP2 33 34
  • 97.43 (n)
mouse
(Mus musculus)
Mammalia Ptbp2 33 16 34
  • 93.72 (n)
rat
(Rattus norvegicus)
Mammalia Ptbp2 33
  • 93.09 (n)
chicken
(Gallus gallus)
Aves PTBP2 33 34
  • 88.64 (n)
lizard
(Anolis carolinensis)
Reptilia PTBP2 34
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ptbp2 33
  • 81.73 (n)
zebrafish
(Danio rerio)
Actinopterygii ptbp2a 34
  • 79 (a)
OneToMany
ptbp2b 33 34
  • 72.88 (n)
fruit fly
(Drosophila melanogaster)
Insecta heph 35 34
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea ptb-1 35 34
  • 47 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 49 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.964 33
Species where no ortholog for PTBP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PTBP2 Gene

ENSEMBL:
Gene Tree for PTBP2 (if available)
TreeFam:
Gene Tree for PTBP2 (if available)

Paralogs for PTBP2 Gene

Paralogs for PTBP2 Gene

(3) SIMAP similar genes for PTBP2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with PTBP2: view

Variants for PTBP2 Gene

Sequence variations from dbSNP and Humsavar for PTBP2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000002728 -- 96,776,300(+) CTATA(A/C)AACTA intron-variant
rs1000011396 -- 96,740,060(+) ATATA(A/G)TGTCC intron-variant
rs1000020033 -- 96,784,345(+) TTTCC(C/T)GATTA intron-variant
rs1000020869 -- 96,722,035(+) TCCCC(C/G)GGCGG intron-variant, upstream-variant-2KB
rs1000029168 -- 96,758,499(+) TTAAG(A/C)AAATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PTBP2 Gene

Variant ID Type Subtype PubMed ID
esv2540979 CNV insertion 19546169
esv3348431 CNV insertion 20981092
nsv830681 CNV loss 17160897

Variation tolerance for PTBP2 Gene

Residual Variation Intolerance Score: 12.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.25; 5.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PTBP2 Gene

Human Gene Mutation Database (HGMD)
PTBP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTBP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTBP2 Gene

Disorders for PTBP2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PTBP2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
lymph node tuberculosis
  • king's evil
cancer-associated retinopathy
  • car syndrome
spinal cord glioma
  • glial neoplasm spinal cord
pleural tuberculosis
  • pearly disease
- elite association - COSMIC cancer census association via MalaCards
Search PTBP2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PTBP2

Genetic Association Database (GAD)
PTBP2
Human Genome Epidemiology (HuGE) Navigator
PTBP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PTBP2
genes like me logo Genes that share disorders with PTBP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PTBP2 Gene

Publications for PTBP2 Gene

  1. Cooperative assembly of an hnRNP complex induced by a tissue-specific homolog of polypyrimidine tract binding protein. (PMID: 11003644) Markovtsov V … Black DL (Molecular and cellular biology 2000) 2 3 4 22 60
  2. Alternative splicing of brain-specific PTB defines a tissue-specific isoform pattern that predicts distinct functional roles. (PMID: 12213192) Rahman L … Zajac-Kaye M (Genomics 2002) 3 4 22 60
  3. Molecular cloning and characterization of human PTB-like protein: a possible retinal autoantigen of cancer-associated retinopathy. (PMID: 11694331) Tateiwa H … Yoshimura N (Journal of neuroimmunology 2001) 3 4 22 60
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  5. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. (PMID: 19571811) International Schizophrenia Consortium … Sklar P (Nature 2009) 3 45 60

Products for PTBP2 Gene

Sources for PTBP2 Gene

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