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

Gene ID: 18741, updated on 18-Sep-2018

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 Vega:OTTMUSG00000037721
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
Expression
Biased expression in bladder adult (RPKM 13.2), CNS E11.5 (RPKM 4.7) and 11 other tissues See more
Orthologs

Genomic context

See Pitx2 in Genome Data Viewer
Location:
3 G3; 3 57.84 cM
Exon count:
8
Annotation release Status Assembly Chr Location
106 current GRCm38.p4 (GCF_000001635.24) 3 NC_000069.6 (129199878..129219594)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 3 NC_000069.5 (128902836..128922509)

Chromosome 3 - NC_000069.6Genomic Context describing neighboring genes Neighboring gene predicted gene, 35726 Neighboring gene predicted gene, 40149 Neighboring gene glutamyl aminopeptidase Neighboring gene predicted gene, 35787

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Variation

Alleles

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

Pathways from BioSystems

  • BMP Signaling Pathway in Eyelid Development, organism-specific biosystem (from WikiPathways)
    BMP Signaling Pathway in Eyelid Development, organism-specific biosystemThe signaling pathways involved in eyelid development are displayed with interactions that are known (solid arrows) and proposed (dotted arrows). The four main pathways shown are activated by Fgf10 a...
  • Heart Development, organism-specific biosystem (from WikiPathways)
    Heart Development, organism-specific biosystemThis pathway has been largely adapted from an article by Deepak Srivastava, Cell. 2006 Sep 22;126(6):1037-48. In this pathway are known transcription factors, miRNAs and regulatory proteins that impa...
  • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
    TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
  • TGF-beta signaling pathway, conserved biosystem (from KEGG)
    TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
  • XPodNet - protein-protein interactions in the podocyte expanded by STRING, organism-specific biosystem (from WikiPathways)
    XPodNet - protein-protein interactions in the podocyte expanded by STRING, organism-specific biosystemXPodNet is a larger version of PodNet. Interactions from STRING database have been added to PodNet to build XPodNet. Hence, not all interactions found in XPodNet do necessarily have to be curated.

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity ISO
Inferred from Sequence Orthology
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II activating transcription factor binding ISO
Inferred from Sequence Orthology
more info
 
RNA polymerase II proximal promoter sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding ISO
Inferred from Sequence Orthology
more info
 
RNA polymerase II transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II transcription factor binding ISO
Inferred from Sequence Orthology
more info
 
chromatin DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding ISO
Inferred from Sequence Orthology
more info
 
phosphoprotein binding ISO
Inferred from Sequence Orthology
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
 
proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific ISO
Inferred from Sequence Orthology
more info
 
proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific ISO
Inferred from Sequence Orthology
more info
 
sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription coactivator activity ISO
Inferred from Sequence Orthology
more info
 
transcription factor binding ISO
Inferred from Sequence Orthology
more info
 
transcription regulatory region sequence-specific DNA binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
Wnt signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
anatomical structure morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
anatomical structure morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
animal organ morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
atrial cardiac muscle tissue morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
atrioventricular valve development IMP
Inferred from Mutant Phenotype
more info
PubMed 
branching involved in blood vessel morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
camera-type eye development ISO
Inferred from Sequence Orthology
more info
 
cardiac muscle cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiac muscle tissue development IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiac neural crest cell migration involved in outflow tract morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell proliferation involved in outflow tract morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
deltoid tuberosity development IMP
Inferred from Mutant Phenotype
more info
PubMed 
deltoid tuberosity development ISO
Inferred from Sequence Orthology
more info
 
determination of left/right symmetry IMP
Inferred from Mutant Phenotype
more info
PubMed 
digestive system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
embryonic camera-type eye development IMP
Inferred from Mutant Phenotype
more info
PubMed 
embryonic digestive tract morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
embryonic hindlimb morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
endodermal digestive tract morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
extraocular skeletal muscle development IMP
Inferred from Mutant Phenotype
more info
PubMed 
heart development IGI
Inferred from Genetic Interaction
more info
PubMed 
heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
hypothalamus cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
in utero embryonic development IMP
Inferred from Mutant Phenotype
more info
PubMed 
iris morphogenesis ISO
Inferred from Sequence Orthology
more info
 
left lung morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
left/right axis specification IMP
Inferred from Mutant Phenotype
more info
PubMed 
lung development IMP
Inferred from Mutant Phenotype
more info
PubMed 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
myoblast fusion IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
 
neuron migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
odontogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
odontogenesis ISO
Inferred from Sequence Orthology
more info
 
pituitary gland development IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of myoblast proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
 
positive regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
pulmonary myocardium development IMP
Inferred from Mutant Phenotype
more info
PubMed 
pulmonary vein morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription by RNA polymerase II IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
 
regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription, DNA-templated ISO
Inferred from Sequence Orthology
more info
 
skeletal muscle tissue development IMP
Inferred from Mutant Phenotype
more info
PubMed 
spleen development IMP
Inferred from Mutant Phenotype
more info
PubMed 
subthalamic nucleus development IMP
Inferred from Mutant Phenotype
more info
PubMed 
superior vena cava morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
vascular smooth muscle cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
vasculogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
ventricular cardiac muscle cell development IMP
Inferred from Mutant Phenotype
more info
PubMed 
ventricular septum morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus ISO
Inferred from Sequence Orthology
more info
 
transcription factor complex IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor complex ISO
Inferred from Sequence Orthology
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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/Swiss-Prot
    P97474
    UniProtKB/TrEMBL
    Q6DIA6
    Related
    ENSMUSP00000047359.9, OTTMUSP00000054645, ENSMUST00000042587.11, OTTMUST00000097424
    Conserved Domains (3) summary
    pfam00046
    Location:96148
    Homeobox; Homeobox domain
    pfam03826
    Location:282299
    OAR; OAR domain
    cl27820
    Location:40149
    Abdominal-A; Homeobox protein
  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
    ENSMUSP00000101990.4, OTTMUSP00000054642, ENSMUST00000106382.10, OTTMUST00000097421
    Conserved Domains (2) summary
    pfam00046
    Location:4395
    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
    ENSMUSP00000134692.1, OTTMUSP00000054644, ENSMUST00000172645.7, OTTMUST00000097423
    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, Q6DIA6
    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
    P97474
    Related
    ENSMUSP00000133756.1, OTTMUSP00000054640, ENSMUST00000174661.8, OTTMUST00000097419
    Conserved Domains (2) summary
    pfam00046
    Location:89141
    Homeobox; Homeobox domain
    pfam03826
    Location:275292
    OAR; OAR domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

Reference GRCm38.p4 C57BL/6J

Genomic

  1. NC_000069.6 Reference GRCm38.p4 C57BL/6J

    Range
    129199878..129219594
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006501133.1XP_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:4395
    Homeobox; Homeobox domain
    pfam03826
    Location:229246
    OAR; OAR domain
  2. XM_006501131.3XP_006501194.1  pituitary homeobox 2 isoform X1

    See identical proteins and their annotated locations for XP_006501194.1

    UniProtKB/Swiss-Prot
    P97474
    Conserved Domains (2) summary
    pfam00046
    Location:89141
    Homeobox; Homeobox domain
    pfam03826
    Location:275292
    OAR; OAR domain
  3. XM_006501132.2XP_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:4395
    Homeobox; Homeobox domain
    pfam03826
    Location:229246
    OAR; OAR domain
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