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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
  • Alliance
    gene page
  • Transcription Start Sites
    13 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:128993527-129013240 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 57.84 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    320 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109340
 protein coding gene Chr3:128993527-129013243 (+)
129S1/SvImJ MGP_129S1SvImJ_G0027868
 protein coding gene Chr3:131830577-131850261 (+)
A/J MGP_AJ_G0027826
 protein coding gene Chr3:127265339-127285025 (+)
AKR/J MGP_AKRJ_G0027791
 protein coding gene Chr3:130555646-130575349 (+)
BALB/cJ MGP_BALBcJ_G0027839
 protein coding gene Chr3:127103084-127122750 (+)
C3H/HeJ MGP_C3HHeJ_G0027568
 protein coding gene Chr3:130942692-130966458 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028283
 protein coding gene Chr3:136555198-136574825 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025621
 protein coding gene Chr3:122796618-122816465 (+)
CAST/EiJ MGP_CASTEiJ_G0027025
 protein coding gene Chr3:130583519-130603237 (+)
CBA/J MGP_CBAJ_G0027544
 protein coding gene Chr3:141145126-141164843 (+)
DBA/2J MGP_DBA2J_G0027685
 protein coding gene Chr3:126457311-126476982 (+)
FVB/NJ MGP_FVBNJ_G0027652
 protein coding gene Chr3:124034044-124054054 (+)
LP/J MGP_LPJ_G0027794
 protein coding gene Chr3:133337251-133357329 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027683
 protein coding gene Chr3:149121210-149141989 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028340
 protein coding gene Chr3:130217663-130237352 (+)
PWK/PhJ MGP_PWKPhJ_G0026749
 protein coding gene Chr3:126184718-126205025 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026574
 protein coding gene Chr3:128278491-128301140 (+)
WSB/EiJ MGP_WSBEiJ_G0027104
 protein coding gene Chr3:130928233-130947925 (+)



Homology
more
  • Human Ortholog
    PITX2, paired like homeodomain 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PITX2, paired like homeodomain 2
  • 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
Human Diseases
more
  • Diseases
    2 with Pitx2 mouse models; 5 with human PITX2 associations

Human Disease Mouse Models
      
IDs
 View 6 models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    8 with disease annotations
  • References
    8 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    161 phenotypes from 16 alleles in 15 genetic backgrounds
    63 phenotypes from multigenic genotypes
    146 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.
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
less
  • All GO Annotations
    128
  • GO References
    35
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    2920
  • Tissues
    919
  • cDNA Data
    45
  • Literature Summary
    400
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000028023 Ensembl Gene Model | MGI Sequence Detail 19714 C57BL/6J ±  kb
    transcript ENSMUST00000042587 Ensembl | MGI Sequence Detail 2271 Not Applicable  
    polypeptide ENSMUSP00000047359 Ensembl | MGI Sequence Detail 324 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 153
      Genomic 4
      cDNA 53
      Primer pair 44
      Other 52

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-37449, MGD-MRK-38385, MGI:108406, MGI:2443452
    References
    more
    • Summaries
      All 532
      Developmental Gene Expression 400
      Diseases 8
      Gene Ontology 35
      Phenotypes 146
    • 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:355218 Unda SR, et al., Bidirectional regulation of motor circuits using magnetogenetic gene therapy. Sci Adv. 2024 Oct 11;10(41):eadp9150
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory