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Pitx3 Gene Detail
Summary
  • Symbol
    Pitx3
  • Name
    paired-like homeodomain transcription factor 3
  • Synonyms
    Ptx3
  • Feature Type
    protein coding gene
  • IDs
    MGI:1100498
    NCBI Gene: 18742
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:46124124-46136765 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 38.75 cM
  • Mapping Data
    17 experiments
Strain
Comparison
more
  • SNPs within 2kb
    348 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    4
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1100498
 protein coding gene Chr19:46123720-46136765 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025201
 protein coding gene Chr19:45807801-45820441 (-)
A/J MGP_AJ_G0025177
 protein coding gene Chr19:43551387-43564104 (-)
AKR/J MGP_AKRJ_G0025146
 protein coding gene Chr19:44957730-44970742 (-)
BALB/cJ MGP_BALBcJ_G0025172
 protein coding gene Chr19:43608110-43620825 (-)
C3H/HeJ MGP_C3HHeJ_G0024932
 protein coding gene Chr19:45131929-45144569 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025615
 protein coding gene Chr19:46942066-46954705 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023029
 protein coding gene Chr19:42791456-42804292 (-)
CAST/EiJ MGP_CASTEiJ_G0024397
 protein coding gene Chr19:44915073-44927829 (-)
CBA/J MGP_CBAJ_G0024912
 protein coding gene Chr19:49310246-49322880 (-)
DBA/2J MGP_DBA2J_G0025044
 protein coding gene Chr19:43371147-43383786 (-)
FVB/NJ MGP_FVBNJ_G0025005
 protein coding gene Chr19:43148121-43160761 (-)
LP/J MGP_LPJ_G0025130
 protein coding gene Chr19:45718938-45731578 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025036
 protein coding gene Chr19:48659021-48671687 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025673
 protein coding gene Chr19:45069112-45081812 (-)
PWK/PhJ MGP_PWKPhJ_G0024146
 protein coding gene Chr19:43307807-43320796 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023950
 protein coding gene Chr19:43727542-43740248 (-)
WSB/EiJ MGP_WSBEiJ_G0024467
 protein coding gene Chr19:45212351-45225008 (-)



Homology
more
  • Human Ortholog
    PITX3, paired like homeodomain 3
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PITX3, paired like homeodomain 3
  • Synonyms
    ASGD1, ASMD, ASOD, CTPP4, CTRCT11, PTX3
  • Links
    NCBI Gene ID: 5309
    neXtProt AC: NX_O75364
    UniProt: O75364

  • Chr Location
    10q24.32; chr10:102230189-102241512 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Pitx3 mouse models; 5 with human PITX3 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
 View 3 models
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    82 phenotypes from 6 alleles in 7 genetic backgrounds
    17 phenotypes from multigenic genotypes
    2 images
    120 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.
Mutations in this gene cause variable defects in many aspects of ocular development and loss of a subset of midbrain dopaminergic neurons. Observed phenotypes may include growth abnormalities, alterations in liver, lung, and bone function, and sex-specific neurobehavioral anomalies.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    42
  • GO References
    16
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
    1147
  • Tissues
    237
  • cDNA Data
    11
  • Literature Summary
    111
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000025229 Ensembl Gene Model | MGI Sequence Detail 12642 C57BL/6J ±  kb
    transcript ENSMUST00000026259 Ensembl | MGI Sequence Detail 1380 Not Applicable  
    polypeptide ENSMUSP00000026259 Ensembl | MGI Sequence Detail 302 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 42
      Genomic 13
      cDNA 15
      Primer pair 10
      Other 4

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-1239, MGI:87976
    References
    more
    • Summaries
      All 246
      Developmental Gene Expression 111
      Diseases 6
      Gene Ontology 16
      Phenotypes 120
    • Earliest
      J:5084 Varnum DS, et al., Aphakia, a new mutation in the mouse. J Hered. 1968 Mar-Apr;59(2):147-50
    • Latest
      J:353281 Rybiczka-Tesulov M, et al., Circular RNAs regulate neuron size and migration of midbrain dopamine neurons during development. Nat Commun. 2024 Aug 8;15(1):6773
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory