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Pitx2 Gene Detail
Summary
  • Symbol
    Pitx2
  • Name
    paired-like homeodomain transcription factor 2
  • Synonyms
    Brx1, Brx1a, Brx1b, Munc30, Otlx2, Pitx2a, Pitx2b, Pitx2c, Ptx2, Rieg, solurshin
  • Feature Type
    protein coding gene
  • IDs
    MGI:109340
    NCBI Gene: 18741
  • Gene Overview
    MyGene.info: PITX2
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr3:129199878-129219591 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      19714 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 57.84 cM
  • Mapping Data
    6 experiments
Homology
more
  • Human Ortholog
    PITX2, paired like homeodomain 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PITX2, paired like homeodomain 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ARP1, ASGD4, Brx1, IDG2, IGDS, IGDS2, IHG2, IRID2, Otlx2, PTX2, RGS, RIEG, RIEG1, RS
  • Links
    NCBI Gene ID: 5308
    neXtProt AC: NX_Q99697
    UniProt: Q99697

  • Chr Location
    4q25; chr4:110617423-110642123 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Pitx2 mouse models; 3 with human PITX2 associations

Human Disease Mouse Models
      
IDs
View 8 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    8 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    149 phenotypes from 15 alleles in 13 genetic backgrounds
    55 phenotypes from multigenic genotypes
    105 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygotes for targeted mutations show failed ventral body wall closure, right pulmonary isomerism, septal and valve defects, absent ocular muscles, arrested pituitary and tooth development, optic nerve, mandible and maxilla defects, and embryonic death.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000037721 VEGA Gene Model | MGI Sequence Detail 19714 C57BL/6J ±  kb
    transcript OTTMUST00000097424 VEGA | MGI Sequence Detail 2271 Not Applicable  
    polypeptide OTTMUSP00000054645 VEGA | MGI Sequence Detail 324 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      43 from dbSNP Build 142
    • PCR
    Protein
    Information
    less
    Molecular
    Reagents
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    • All nucleic 96
      Genomic 4
      cDNA 47
      Primer pair 18
      Other 27

      Microarray probesets 5
    Other
    Accession IDs
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    MGD-MRK-37449, MGD-MRK-38385, MGI:108406, MGI:2443452
    References
    more
    • Summaries
      All 422
      Developmental Gene Expression 322
      Diseases 7
      Gene Ontology 34
      Phenotypes 105
    • Earliest
      J:2166 Murray JC, et al., Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. Nat Genet. 1992 Sep;2(1):46-9
    • Latest
      J:263775 Stallings CE, et al., Premature Expression of FOXO1 in Developing Mouse Pituitary Results in Anterior Lobe Hypoplasia. Endocrinology. 2018 Aug 1;159(8):2891-2904

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    10/09/2018
    MGI 6.12
    The Jackson Laboratory