Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PITX3 Gene

Aliases for PITX3 Gene

  • Paired-Like Homeodomain 3 2 3
  • Paired-Like Homeodomain Transcription Factor 3 2 4
  • Homeobox Protein PITX3 3 4
  • CTRCT11 3 6
  • CTPP4 3 6
  • PTX3 3 4
  • Anterior Segment Mesenchymal Dysgenesis 2
  • Pituitary Homeobox 3 3
  • ASMD 3
  • ASOD 3

External Ids for PITX3 Gene

Previous HGNC Symbols for PITX3 Gene

  • ASMD

Previous GeneCards Identifiers for PITX3 Gene

  • GC10M102883
  • GC10M103223
  • GC10M104121
  • GC10M103654
  • GC10M103979
  • GC10M097622

Summaries for PITX3 Gene

Entrez Gene Summary for PITX3 Gene

  • This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts. [provided by RefSeq, Jul 2008]

GeneCards Summary for PITX3 Gene

PITX3 (Paired-Like Homeodomain 3) is a Protein Coding gene. Diseases associated with PITX3 include anterior segment mesenchymal dysgenesis and cataract 11, multiple types. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is PITX2.

UniProtKB/Swiss-Prot for PITX3 Gene

  • Transcriptional regulator which is important for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development. In addition to its importance during development, it also has roles in the long-term survival and maintenance of the mdDA neurons. Activates NR4A2/NURR1-mediated transcription of genes such as SLC6A3, SLC18A2, TH and DRD2 which are essential for development of mdDA neurons. Acts by decreasing the interaction of NR4A2/NURR1 with the corepressor NCOR2/SMRT which acts through histone deacetylases (HDACs) to keep promoters of NR4A2/NURR1 target genes in a repressed deacetylated state. Essential for the normal lens development and differentiation. Plays a critical role in the maintenance of mitotic activity of lens epithelial cells, fiber cell differentiation and in the control of the temporal and spatial activation of fiber cell-specific crystallins. Positively regulates FOXE3 expression and negatively regulates PROX1 in the anterior lens epithelium, preventing activation of CDKN1B/P27Kip1 and CDKN1C/P57Kip2 and thus maintains lens epithelial cells in cell cycle (By similarity).

Gene Wiki entry for PITX3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PITX3 Gene

Genomics for PITX3 Gene

Regulatory Elements for PITX3 Gene

Genomic Location for PITX3 Gene

Start:
102,230,186 bp from pter
End:
102,241,474 bp from pter
Size:
11,289 bases
Orientation:
Minus strand

Genomic View for PITX3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PITX3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PITX3 Gene

Proteins for PITX3 Gene

  • Protein details for PITX3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75364-PITX3_HUMAN
    Recommended name:
    Pituitary homeobox 3
    Protein Accession:
    O75364
    Secondary Accessions:
    • Q5VZL2

    Protein attributes for PITX3 Gene

    Size:
    302 amino acids
    Molecular mass:
    31832 Da
    Quaternary structure:
    • Interacts with SFPQ.

neXtProt entry for PITX3 Gene

Proteomics data for PITX3 Gene at MOPED

Post-translational modifications for PITX3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PITX3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PITX3 Gene

Domains for PITX3 Gene

Gene Families for PITX3 Gene

HGNC:
  • PRD :Homeoboxes / PRD class

Suggested Antigen Peptide Sequences for PITX3 Gene

Graphical View of Domain Structure for InterPro Entry

O75364

UniProtKB/Swiss-Prot:

PITX3_HUMAN :
  • O75364
Domain:
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the paired homeobox family. Bicoid subfamily.
genes like me logo Genes that share domains with PITX3: view

Function for PITX3 Gene

Molecular function for PITX3 Gene

GENATLAS Biochemistry: paired-like homeo domain transcription factor 3,expressed in lens with later expression extending to the midbrain,tongue,incisors,sternum,vertebrae and limbs
UniProtKB/Swiss-Prot Function: Transcriptional regulator which is important for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development. In addition to its importance during development, it also has roles in the long-term survival and maintenance of the mdDA neurons. Activates NR4A2/NURR1-mediated transcription of genes such as SLC6A3, SLC18A2, TH and DRD2 which are essential for development of mdDA neurons. Acts by decreasing the interaction of NR4A2/NURR1 with the corepressor NCOR2/SMRT which acts through histone deacetylases (HDACs) to keep promoters of NR4A2/NURR1 target genes in a repressed deacetylated state. Essential for the normal lens development and differentiation. Plays a critical role in the maintenance of mitotic activity of lens epithelial cells, fiber cell differentiation and in the control of the temporal and spatial activation of fiber cell-specific crystallins. Positively regulates FOXE3 expression and negatively regulates PROX1 in the anterior lens epithelium, preventing activation of CDKN1B/P27Kip1 and CDKN1C/P57Kip2 and thus maintains lens epithelial cells in cell cycle (By similarity).

Gene Ontology (GO) - Molecular Function for PITX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA --
GO:0003677 DNA binding --
GO:0003700 sequence-specific DNA binding transcription factor activity --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with PITX3: view
genes like me logo Genes that share phenotypes with PITX3: view

Animal Models for PITX3 Gene

MGI Knock Outs for PITX3:

miRNA for PITX3 Gene

miRTarBase miRNAs that target PITX3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for PITX3 Gene

Localization for PITX3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PITX3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PITX3 Gene COMPARTMENTS Subcellular localization image for PITX3 gene
Compartment Confidence
nucleus 4
cytosol 2

Gene Ontology (GO) - Cellular Components for PITX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
genes like me logo Genes that share ontologies with PITX3: view

Pathways for PITX3 Gene

SuperPathways for PITX3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PITX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002088 lens development in camera-type eye ISS --
GO:0002089 lens morphogenesis in camera-type eye ISS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated ISS --
GO:0007626 locomotory behavior IEA --
genes like me logo Genes that share ontologies with PITX3: view

No data available for Pathways by source for PITX3 Gene

Compounds for PITX3 Gene

(3) Novoseek inferred chemical compound relationships for PITX3 Gene

Compound -log(P) Hits PubMed IDs
ptx1 85.6 5
dopamine 60.3 12
tyrosine 34.6 5
genes like me logo Genes that share compounds with PITX3: view

Transcripts for PITX3 Gene

mRNA/cDNA for PITX3 Gene

(7) Selected AceView cDNA sequences:
(2) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PITX3 Gene

Paired-like homeodomain 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PITX3 Gene

No ASD Table

Relevant External Links for PITX3 Gene

GeneLoc Exon Structure for
PITX3
ECgene alternative splicing isoforms for
PITX3

Expression for PITX3 Gene

mRNA expression in normal human tissues for PITX3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PITX3 Gene

This gene is overexpressed in Muscle - Skeletal (33.8) and Brain - Substantia nigra (6.4).

SOURCE GeneReport for Unigene cluster for PITX3 Gene Hs.137568

mRNA Expression by UniProt/SwissProt for PITX3 Gene

O75364-PITX3_HUMAN
Tissue specificity: Highly expressed in developing eye lens
genes like me logo Genes that share expressions with PITX3: view

No data available for Protein expression for PITX3 Gene

Orthologs for PITX3 Gene

This gene was present in the common ancestor of animals.

Orthologs for PITX3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PITX3 35
  • 99.89 (n)
  • 100 (a)
PITX3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PITX3 35
  • 90.95 (n)
  • 96.69 (a)
PITX3 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PITX3 35
  • 91.72 (n)
  • 97.02 (a)
PITX3 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pitx3 35
  • 89.74 (n)
  • 98.34 (a)
Pitx3 16
Pitx3 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PITX3 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PITX3 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pitx3 35
  • 89.62 (n)
  • 98.01 (a)
chicken
(Gallus gallus)
Aves PITX3 35
  • 70.5 (n)
  • 70.73 (a)
PITX3 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PITX3 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pitx3 35
  • 66.55 (n)
  • 70.88 (a)
zebrafish
(Danio rerio)
Actinopterygii pitx3 35
  • 70.2 (n)
  • 72.79 (a)
pitx3 36
  • 70 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ptx1 36
  • 20 (a)
OneToMany
Ptx1 37
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-30 36
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 27 (a)
OneToMany
Species with no ortholog for PITX3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PITX3 Gene

ENSEMBL:
Gene Tree for PITX3 (if available)
TreeFam:
Gene Tree for PITX3 (if available)

Paralogs for PITX3 Gene

Paralogs for PITX3 Gene

Selected SIMAP similar genes for PITX3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PITX3: view

Variants for PITX3 Gene

Sequence variations from dbSNP and Humsavar for PITX3 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs733283 -- 102,236,819(+) TTCTC(A/T)TTCAG intron-variant
rs1541047 -- 102,237,888(-) GGTGG(A/G)CGGGG intron-variant
rs1541048 -- 102,237,887(-) GTGGG(C/G)GGGGG intron-variant
rs1541049 -- 102,237,327(-) TCTCT(A/G/T)CCTCT intron-variant
rs1854291 -- 102,232,365(+) GGGGT(C/T)CAATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PITX3 Gene

Variant ID Type Subtype PubMed ID
nsv895968 CNV Loss 21882294

Relevant External Links for PITX3 Gene

HapMap Linkage Disequilibrium report
PITX3
Human Gene Mutation Database (HGMD)
PITX3
Locus Specific Mutation Databases (LSDB)
PITX3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PITX3 Gene

Disorders for PITX3 Gene

(2) OMIM Diseases for PITX3 Gene (602669)

UniProtKB/Swiss-Prot

PITX3_HUMAN
  • Anterior segment mesenchymal dysgenesis (ASMD) [MIM:107250]: A range of developmental defects in structures at the front of the eye, resulting from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to the cornea, iris, and other components of the anterior chamber during eye development. Different mature anterior segment anomalies may exist alone or in combination, and are associated with an increased risk of glaucoma and corneal opacity. Conditions falling within the phenotypic spectrum of anterior segment anomalies include aniridia, posterior embryotoxon, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. {ECO:0000269 PubMed:9620774}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cataract 11, multiple types (CTRCT11) [MIM:610623]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT11 includes posterior polar cataract, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. Some CTRCT11 patients can present a severe phenotype including microphthalmia and neurological dysfunction. {ECO:0000269 PubMed:15286169, ECO:0000269 PubMed:9620774}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for PITX3 Gene

(7) Novoseek inferred disease relationships for PITX3 Gene

Disease -log(P) Hits PubMed IDs
anterior segment mesenchymal dysgenesis 94.9 4
rieg 83.9 2
congenital cataract 70.7 2
aphakia 70.4 4
microphthalmia 68.8 7

Relevant External Links for PITX3

GeneTests
PITX3
GeneReviews
PITX3
Genetic Association Database (GAD)
PITX3
Human Genome Epidemiology (HuGE) Navigator
PITX3
genes like me logo Genes that share disorders with PITX3: view

Publications for PITX3 Gene

  1. A novel homeobox gene PITX3 is mutated in families with autosomal- dominant cataracts and ASMD. (PMID: 9620774) Semina E.V. … Murray J.C. (Nat. Genet. 1998) 2 3 4 23
  2. Posterior polar cataract: genetic analysis of a large family. (PMID: 16272057) Finzi S. … Sundin O. (Ophthalmic Genet. 2005) 3 23
  3. Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities. (PMID: 16565358) Bidinost C. … Traboulsi E.I. (Invest. Ophthalmol. Vis. Sci. 2006) 3 23
  4. Functional analysis of human mutations in homeodomain transcription factor PITX3. (PMID: 17888164) Sakazume S. … Semina E.V. (BMC Mol. Biol. 2007) 3 23
  5. Pitx3 potentiates Nurr1 in dopamine neuron terminal differentiation through release of SMRT-mediated repression. (PMID: 19144721) Jacobs F.M. … Smidt M.P. (Development 2009) 3 23

Products for PITX3 Gene

  • Addgene plasmids for PITX3

Sources for PITX3 Gene

Back to Top

Content