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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
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
  • Synonyms
    ARP1, Brx1, IDG2, IGDS, IGDS2, IHG2, IRID2, Otlx2, PTX2, RGS, RIEG, RIEG1, RS
  • Links
    NCBI Gene ID: 5308
    neXtProt AC: NX_Q99697

  • Chr Location
    4q25; chr4:110617423-110642123 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Pitx2 mouse models; 4 with human PITX2 associations

Human Disease Mouse Models
       Axenfeld-Rieger Syndrome, Type 1; RIEG1   OMIM: 180500 View 8 models
       Iridogoniodysgenesis, Type 2; IRID2   OMIM: 137600
Peters Anomaly   OMIM: 604229
Ring Dermoid of Cornea; RDC   OMIM: 180550
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
    144 phenotypes from 15 alleles in 13 genetic backgrounds
    56 phenotypes from multigenic genotypes
    93 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    24
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Targeted
    20
  • Transgenic
    2
  • Genomic Mutations
    2 involving Pitx2
  • Incidental Mutations
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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
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  • SNPs within 2kb
    43 from dbSNP Build 142
  • PCR
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 85
    Genomic 4
    cDNA 47
    Primer pair 17
    Other 17

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-37449, MGD-MRK-38385, MGI:108406, MGI:2443452
References
more
  • Summaries
    All 369
    Developmental Gene Expression 289
    Diseases 7
    Gene Ontology 32
    Phenotypes 93
  • 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:233311 Grimes DT, et al., Genetic Analysis Reveals a Hierarchy of Interactions between Polycystin-Encoding Genes and Genes Controlling Cilia Function during Left-Right Determination. PLoS Genet. 2016 Jun;12(6):e1006070

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory