U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    Pitx2 paired-like homeodomain transcription factor 2 [ Mus musculus (house mouse) ]

    Gene ID: 18741, updated on 18-Sep-2024

    Summary

    Official Symbol
    Pitx2provided by MGI
    Official Full Name
    paired-like homeodomain transcription factor 2provided by MGI
    Primary source
    MGI:MGI:109340
    See related
    Ensembl:ENSMUSG00000028023 AllianceGenome:MGI:109340
    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
    Brx1; Ptx2; Rieg; Brx1b; Otlx2; Munc30; 9430085M16Rik
    Summary
    Enables DNA-binding transcription factor activity, RNA polymerase II-specific; chromatin DNA binding activity; and sequence-specific DNA binding activity. Involved in animal organ development and left/right axis specification. Acts upstream of or within several processes, including animal organ development; circulatory system development; and embryonic hindlimb morphogenesis. Located in cytoplasm and nucleus. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; genitourinary system; and musculature. Used to study Axenfeld-Rieger syndrome type 1 and glaucoma. Human ortholog(s) of this gene implicated in Arts syndrome; Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 1; anterior segment dysgenesis 4; and ring dermoid of cornea. Orthologous to human PITX2 (paired like homeodomain 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in bladder adult (RPKM 13.2), CNS E11.5 (RPKM 4.7) and 11 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Pitx2 in Genome Data Viewer
    Location:
    3 G3; 3 57.84 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (128993527..129013243)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (129199878..129219594)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 35726 Neighboring gene STARR-seq mESC enhancer starr_08963 Neighboring gene predicted gene, 40149 Neighboring gene STARR-seq mESC enhancer starr_08966 Neighboring gene glutamyl aminopeptidase Neighboring gene STARR-positive B cell enhancer mm9_chr3:129124737-129125037 Neighboring gene predicted gene, 35787

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (1) 
    • Endonuclease-mediated (1) 
    • Targeted (19)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity 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 activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA-binding transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific 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 cis-regulatory region sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables RNA polymerase II-specific DNA-binding transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables chromatin DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphoprotein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables ribonucleoprotein complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sequence-specific double-stranded DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables transcription cis-regulatory region binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in anatomical structure morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within anatomical structure morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within animal organ morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within atrial cardiac muscle tissue morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within atrioventricular valve development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within branching involved in blood vessel morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in camera-type eye development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within cardiac muscle cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cardiac muscle tissue development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiac neural crest cell migration involved in outflow tract morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cell proliferation involved in outflow tract morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in deltoid tuberosity development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in deltoid tuberosity development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within determination of left/right symmetry IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in determination of left/right symmetry IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within digestive system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic camera-type eye development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic digestive tract morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in embryonic heart tube left/right pattern formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic hindlimb morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within endodermal digestive tract morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within extraocular skeletal muscle development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in female gonad development IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within heart development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within hypothalamus cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in iris morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within left lung morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in left/right axis specification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within lung development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in male gonad development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within neuron migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within odontogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in odontogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in odontogenesis of dentin-containing tooth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in outflow tract morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within pituitary gland development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 pulmonary myocardium development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within pulmonary vein morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to hormone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to vitamin A IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within skeletal muscle tissue development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in spleen development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within subthalamic nucleus development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within superior vena cava morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within vascular associated smooth muscle cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within vasculogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within ventricular cardiac muscle cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within ventricular septum morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    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 
    part_of transcription regulator complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    pituitary homeobox 2
    Names
    ALL1-responsive protein ARP1
    BRX1 homeoprotein
    bicoid-related homeobox protein 1
    orthodenticle-like homeobox 2
    paired-like homeodomain transcription factor Munc 30
    solurshin

    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_001042502.2NP_001035967.1  pituitary homeobox 2 isoform c

      See identical proteins and their annotated locations for NP_001035967.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal exon, lacks a portion of the 5' coding region and initiates translation at an alternate start codon compared to variant 1. The encoded protein (isoform c, also known as PITX2Calpha (PMID 18373856)) has a distinct N-terminus and is longer than isoform a.
      Source sequence(s)
      AV306733, BB626986, BC075660
      Consensus CDS
      CCDS38631.1
      UniProtKB/TrEMBL
      Q6DIA6
      Related
      ENSMUSP00000047359.10, ENSMUST00000042587.12
      Conserved Domains (3) summary
      COG5576
      Location:40149
      COG5576; Homeodomain-containing transcription factor [Transcription]
      pfam00046
      Location:96149
      Homeobox; Homeobox domain
      pfam03826
      Location:282299
      OAR; OAR domain
    2. NM_001042504.2NP_001035969.1  pituitary homeobox 2 isoform a

      See identical proteins and their annotated locations for NP_001035969.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes the shortest isoform (a, also known as PITX2A).
      Source sequence(s)
      AC116740
      Consensus CDS
      CCDS38630.1
      UniProtKB/Swiss-Prot
      P97474
      Related
      ENSMUSP00000101990.5, ENSMUST00000106382.11
      Conserved Domains (2) summary
      pfam00046
      Location:4396
      Homeobox; Homeobox domain
      pfam03826
      Location:229246
      OAR; OAR domain
    3. NM_001286942.1NP_001273871.1  pituitary homeobox 2 isoform d

      See identical proteins and their annotated locations for NP_001273871.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded protein (isoform d, also known as PITX2B2) is longer than isoform a.
      Source sequence(s)
      AC116740, AM940438, BY775551
      Consensus CDS
      CCDS71316.1
      UniProtKB/TrEMBL
      B1VD84
      Related
      ENSMUSP00000134692.2, ENSMUST00000172645.8
      Conserved Domains (2) summary
      pfam00046
      Location:76128
      Homeobox; Homeobox domain
      pfam03826
      Location:262279
      OAR; OAR domain
    4. NM_001287048.1NP_001273977.1  pituitary homeobox 2 isoform e

      See identical proteins and their annotated locations for NP_001273977.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal exon, lacks a portion of the 5' coding region and initiates translation at an alternate start codon compared to variant 1. The encoded protein (isoform e, also known as PITX2Cbeta) has a distinct N-terminus and is longer than isoform a. Translation begins at a downstream in-frame start codon compared to the AUG used in this transcript to produce PITX2Calpha (PMID 18373856).
      Source sequence(s)
      AV306733, BB626986, BC075660
      UniProtKB/TrEMBL
      B1VD85
      Conserved Domains (3) summary
      COG5576
      Location:6115
      COG5576; Homeodomain-containing transcription factor [Transcription]
      pfam00046
      Location:62114
      Homeobox; Homeobox domain
      pfam03826
      Location:248265
      OAR; OAR domain
    5. NM_011098.4NP_035228.2  pituitary homeobox 2 isoform b

      See identical proteins and their annotated locations for NP_035228.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded protein (isoform b, also known as PITX2B1) is longer than isoform a.
      Source sequence(s)
      AC116740
      Consensus CDS
      CCDS17830.1
      UniProtKB/Swiss-Prot
      O08646, O70336, P97474, P97933, Q9JLA0, Q9QXB8, Q9R1V9, Q9Z141
      Related
      ENSMUSP00000133756.2, ENSMUST00000174661.9
      Conserved Domains (2) summary
      pfam00046
      Location:89142
      Homeobox; Homeobox domain
      pfam03826
      Location:275292
      OAR; OAR domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000069.7 Reference GRCm39 C57BL/6J

      Range
      128993527..129013243
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006501133.3XP_006501196.1  pituitary homeobox 2 isoform X2

      See identical proteins and their annotated locations for XP_006501196.1

      UniProtKB/Swiss-Prot
      P97474
      Conserved Domains (2) summary
      pfam00046
      Location:4396
      Homeobox; Homeobox domain
      pfam03826
      Location:229246
      OAR; OAR domain
    2. XM_006501131.5XP_006501194.1  pituitary homeobox 2 isoform X1

      See identical proteins and their annotated locations for XP_006501194.1

      UniProtKB/Swiss-Prot
      O08646, O70336, P97474, P97933, Q9JLA0, Q9QXB8, Q9R1V9, Q9Z141
      Conserved Domains (2) summary
      pfam00046
      Location:89142
      Homeobox; Homeobox domain
      pfam03826
      Location:275292
      OAR; OAR domain
    3. XM_006501132.3XP_006501195.1  pituitary homeobox 2 isoform X2

      See identical proteins and their annotated locations for XP_006501195.1

      UniProtKB/Swiss-Prot
      P97474
      Conserved Domains (2) summary
      pfam00046
      Location:4396
      Homeobox; Homeobox domain
      pfam03826
      Location:229246
      OAR; OAR domain