Ptbp2 polypyrimidine tract binding protein 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ptbp2provided by MGI
Official Full Name: polypyrimidine tract binding protein 2provided by MGI
Primary source: MGI:MGI:1860489
See related: Ensembl:ENSMUSG00000028134 AllianceGenome:MGI:1860489
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ptb2; nPTB; brPTB
Summary: Enables mRNA binding activity. Acts upstream of or within mRNA splice site selection and regulation of neural precursor cell proliferation. Part of spliceosomal complex. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Orthologous to human PTBP2 (polypyrimidine tract binding protein 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in CNS E14 (RPKM 48.5), whole brain E14.5 (RPKM 48.4) and 12 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3; 3 G1

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (119512390..119578296, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (119718741..119784647, complement)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

hnRNPH1 recruits PTBP2 and SRSF3 to modulate alternative splicing in germ cells.
Title: hnRNPH1 recruits PTBP2 and SRSF3 to modulate alternative splicing in germ cells.
Axonogenesis-associated splicing changes are governed by PTBP2.
Title: Axonogenesis Is Coordinated by Neuron-Specific Alternative Splicing Programming and Splicing Regulator PTBP2.
splicing regulation by Ptbp2 is critical for germ cell communication with Sertoli cells
Title: Ptbp2 Controls an Alternative Splicing Network Required for Cell Communication during Spermatogenesis.
In round spermatids, MRG15 colocalizes with splicing factors PTBP1 and PTBP2 at H3K36me3 sites between the exons and single intron of transition nuclear protein 2 (Tnp2). Thus, our results reveal that MRG15 is essential for pre-mRNA splicing during spermatogenesis and that epigenetic regulation of pre-mRNA splicing by histone modification could be useful to understand not only spermatogenesis but also, epigenetic disorder
Title: MRG15 is required for pre-mRNA splicing and spermatogenesis.
This knockin Ptbp1 rescued a forebrain-specific, but not a pan-neuronal, Ptbp2 knockout, demonstrating both redundant and distinct roles for the proteins. Many developmentally regulated exons exhibited different sensitivities to PTBP1 and PTBP2.
Title: PTBP1 and PTBP2 Serve Both Specific and Redundant Functions in Neuronal Pre-mRNA Splicing.
Ptbp2 is an essential factor in heat stress-induced sperm cell injury and non-obstructive azoospermia.
Title: Association between RNA-binding protein Ptbp2 and germ cell injury in an experimentally-induced unilateral cryptorchidism murine model.
Ptbp2 ablation results in germ cell loss due to increased apoptosis of meiotic spermatocytes and postmeiotic arrest of spermatid differentiation.
Title: RNA Binding Protein Ptbp2 Is Essential for Male Germ Cell Development.
These results define a new genetic regulatory program, where PTBP2 acts to temporarily repress expression of adult protein isoforms until the final maturation of the neuron.
Title: The splicing regulator PTBP2 controls a program of embryonic splicing required for neuronal maturation.
Thus, Ptbp2 inhibition of a discrete set of adult neuronal exons underlies early brain development prior to neuronal differentiation and is essential for postnatal survival.
Title: Ptbp2 represses adult-specific splicing to regulate the generation of neuronal precursors in the embryonic brain.
The expression of PSD-95 during early neural development is controlled at the RNA level by two PTB proteins whose sequential downregulation is necessary for synapse maturation.
Title: PSD-95 is post-transcriptionally repressed during early neural development by PTBP1 and PTBP2.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Targeted (3) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Ptbp2 (e-PCR), detects polymorphism
- UniSTS:479020

Ptbp2 (e-PCR), detects polymorphism
- UniSTS:546967

Homology

Homologs of the Ptbp2 gene: The Ptbp2 gene is conserved in human, chimpanzee, Rhesus monkey, dog, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 342 organisms have orthologs with human gene Ptbp2
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables mRNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables mRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables nucleic acid binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within RNA splicing	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within mRNA processing	IEA Inferred from Electronic Annotation more info
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within mRNA splice site selection	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within mRNA splice site selection	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of RNA splicing	ISO Inferred from Sequence Orthology more info
involved_in regulation of RNA splicing	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acts_upstream_of_or_within regulation of neural precursor cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in growth cone	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of spliceosomal complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: polypyrimidine tract-binding protein 2

Names: RRM-type RNA-binding protein brPTB; brain-enriched PTB; brain-enriched polypyrimidine tract-binding protein; neural polypyrimidine tract-binding protein

NCBI Reference Sequences (RefSeq)

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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)

NM_001310711.1 → NP_001297640.1 polypyrimidine tract-binding protein 2 isoform 2

See identical proteins and their annotated locations for NP_001297640.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC111029, AK013734, AK033964, AK135738

Consensus CDS

CCDS80010.1

UniProtKB/Swiss-Prot

Q91Z31, Q9R0V9

Related

ENSMUSP00000143510.2, ENSMUST00000200097.5

Conserved Domains (1) summary

TIGR01649
Location:57 → 531

hnRNP-L_PTB; hnRNP-L/PTB/hephaestus splicing factor family
NM_019550.2 → NP_062423.1 polypyrimidine tract-binding protein 2 isoform 1

See identical proteins and their annotated locations for NP_062423.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC111029, AK137348

Consensus CDS

CCDS38616.1

UniProtKB/Swiss-Prot

Q91Z31

UniProtKB/TrEMBL

A0A8C6HHB0

Related

ENSMUSP00000029780.8, ENSMUST00000029780.12

Conserved Domains (1) summary

TIGR01649
Location:57 → 532

hnRNP-L_PTB; hnRNP-L/PTB/hephaestus splicing factor family