Pbx2 pre B cell leukemia homeobox 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pbx2provided by MGI
Official Full Name: pre B cell leukemia homeobox 2provided by MGI
Primary source: MGI:MGI:1341793
See related: Ensembl:ENSMUSG00000034673 AllianceGenome:MGI:1341793
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: G17
Summary: Enables chromatin binding activity. Acts upstream of or within embryonic limb morphogenesis; positive regulation of transcription by RNA polymerase II; and proximal/distal pattern formation. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; eye; and genitourinary system. Orthologous to human PBX2 (PBX homeobox 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 34.0), limb E14.5 (RPKM 28.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 B1; 17 18.17 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (34811233..34816374)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (34592259..34597400)

Chromosome 17 - NC_000083.7 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 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?

A spatio-temporally constrained gene regulatory network directed by PBX1/2 acquires limb patterning specificity via HAND2.
Title: A spatio-temporally constrained gene regulatory network directed by PBX1/2 acquires limb patterning specificity via HAND2.
mouse PBX1 and PBX2 have roles in pulmonary vascular adaptation to birth
Title: PBX transcription factors drive pulmonary vascular adaptation to birth.
Data have demonstrated the presence of Meis, Pbx, and Prep proteins during early lineage segregation in mammals: Meis1, Meis3, Pbx1, Pbx2, Pbx3, and Prep1 in the mouse.
Title: Characterization of TALE genes expression during the first lineage segregation in mammalian embryos.
In compound Pbx1;Pbx2 and Pbx1;Emx2 mutants, pelvic mesenchymal condensation is markedly perturbed, indicative of an upstream control by these homeoproteins.
Title: Control of pelvic girdle development by genes of the Pbx family and Emx2.
Reduction or absence of Pbx2 or Pbx3 leads to Pbx1 haploinsufficiency and specific malformations that resemble tetralogy of Fallot, overriding aorta with ventricular septal defect, and bicuspid aortic valves.
Title: Pbx/Meis deficiencies demonstrate multigenetic origins of congenital heart disease.
Pbx1/Pbx2 govern axial skeletal development by controlling Polycomb and Hox in mesoderm and Pax1/Pax9 in sclerotome.
Title: Pbx1/Pbx2 govern axial skeletal development by controlling Polycomb and Hox in mesoderm and Pax1/Pax9 in sclerotome.
TALE proteins are critical downstream effectors within an essential homeoprotein network that serves a rate-limiting regulatory role in MLL leukemogenesis.
Title: Meis1 is an essential and rate-limiting regulator of MLL leukemia stem cell potential.
Pbx1/Pbx2 exert a primary hierarchical function on Hox genes, rather than behaving merely as Hox ancillary factors
Title: Pbx1/Pbx2 requirement for distal limb patterning is mediated by the hierarchical control of Hox gene spatial distribution and Shh expression.
This protein isoform was found to have elevated levels in limb buds after retinoic acid treatment.
Title: PBX, MEIS, and IGF-I are potential mediators of retinoic acid-induced proximodistal limb reduction defects.
During pancreatic islet formation, Pax6 expression becomes dependent upon Pbx1 and Pbx2 function.
Title: Pax6 is regulated by Meis and Pbx homeoproteins during pancreatic development.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

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

Endonuclease-mediated (1) 1 citation
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AA960287 (e-PCR)
- UniSTS:160648

RH126902 (e-PCR)
- UniSTS:209296

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in animal organ morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in brain development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within embryonic limb morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in embryonic organ development	IBA Inferred from Biological aspect of Ancestor more info
involved_in eye development	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within proximal/distal pattern formation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: pre-B-cell leukemia transcription factor 2

Names: homeobox protein PBX2

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_017463.3 → NP_059491.1 pre-B-cell leukemia transcription factor 2

See identical proteins and their annotated locations for NP_059491.1

Status: VALIDATED

Source sequence(s)

AK159623, CT009767

Consensus CDS

CCDS28648.1

UniProtKB/Swiss-Prot

O35984

UniProtKB/TrEMBL

Q3UYU9, Q4FJL3

Related

ENSMUSP00000040464.7, ENSMUST00000038149.13

Conserved Domains (2) summary

cd00086
Location:245 → 305

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

pfam03792
Location:50 → 243

PBC; PBC domain