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Aliases for PITX3 Gene

Aliases for PITX3 Gene

  • Paired Like Homeodomain 3 2 3 5
  • Paired-Like Homeodomain Transcription Factor 3 2 4
  • Homeobox Protein PITX3 3 4
  • PTX3 3 4
  • Anterior Segment Mesenchymal Dysgenesis 2
  • Paired-Like Homeodomain 3 2
  • Pituitary Homeobox 3 3
  • CTRCT11 3
  • ASGD1 3
  • CTPP4 3
  • ASOD 3
  • ASMD 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. Among its related pathways are Dopaminergic Neurogenesis. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PITX3 Gene

Genomics for PITX3 Gene

Regulatory Elements for PITX3 Gene

Enhancers for PITX3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G102342 1.2 FANTOM5 Ensembl ENCODE 20.1 -101.9 -101943 2.3 SCRT1 TEAD4 CBX2 ETS1 FOXA1 BCL11A GATA2 POLR2A SCRT2 POU5F1 PITX3 GBF1 ELOVL3 NOLC1 PSD FBXL15 C10orf95 MFSD13A ACTR1A NFKB2
GH10G102312 0.9 ENCODE dbSUPER 19.8 -71.4 -71362 1.7 PKNOX1 MAZ MTA2 ZBTB8A SUPT20H ZNF664 ZFP69B PRDM6 ZNF692 PBX2 PITX3 GBF1 ELOVL3 POLL GC10P102289 NFKB2
GH10G102267 0.8 ENCODE dbSUPER 20.3 -27.6 -27574 2.6 CTCF ZFHX2 SMC3 MAX HNF4A RAD21 EGR2 PITX3 GBF1 ELOVL3 BORCS7 GC10P102286
GH10G102322 0.8 ENCODE dbSUPER 19.3 -82.6 -82555 2.5 ZNF121 BHLHE40 CBFB ZNF10 MAX MYC PRDM1 PITX3 GBF1 ELOVL3 BORCS7 GC10P102289 NFKB2
GH10G102309 1.3 Ensembl ENCODE dbSUPER 11.3 -69.5 -69491 1.9 ELF3 PKNOX1 KLF1 FOXA2 SAP130 ZNF133 SIN3A FEZF1 TEAD3 ZNF664 GBF1 PITX3 ELOVL3 FBXL15 GC10P102289 NFKB2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PITX3 on UCSC Golden Path with GeneCards custom track

Genomic Location for PITX3 Gene

Chromosome:
10
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

Genes around PITX3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PITX3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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 & Families for PITX3 Gene

Gene Families for PITX3 Gene

Suggested Antigen Peptide Sequences for PITX3 Gene

Graphical View of Domain Structure for InterPro Entry

O75364

UniProtKB/Swiss-Prot:

PITX3_HUMAN :
  • Belongs to the paired homeobox family. Bicoid subfamily.
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 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with PITX3: view
genes like me logo Genes that share phenotypes with PITX3: view

Human Phenotype Ontology for PITX3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PITX3 Gene

MGI Knock Outs for PITX3:

Animal Model Products

CRISPR Products

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

Localization for PITX3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PITX3 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PITX3 gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PITX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with PITX3: view

Pathways & Interactions for PITX3 Gene

SuperPathways for PITX3 Gene

SuperPathway Contained pathways
1 Dopaminergic Neurogenesis
genes like me logo Genes that share pathways with PITX3: view

Pathways by source for PITX3 Gene

1 BioSystems pathway for PITX3 Gene

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:0006366 transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with PITX3: view

No data available for SIGNOR curated interactions for PITX3 Gene

Drugs & Compounds for PITX3 Gene

(2) Drugs for PITX3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for PITX3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PITX3: view

Transcripts for PITX3 Gene

mRNA/cDNA for PITX3 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(7) Selected AceView cDNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x33.8) and Brain - Substantia nigra (x6.4).

NURSA nuclear receptor signaling pathways regulating expression of PITX3 Gene:

PITX3

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.

Evidence on tissue expression from TISSUES for PITX3 Gene

  • Muscle(4.4)
  • Nervous system(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PITX3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with PITX3: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners 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 34 35
  • 99.89 (n)
dog
(Canis familiaris)
Mammalia PITX3 34 35
  • 91.72 (n)
oppossum
(Monodelphis domestica)
Mammalia PITX3 35
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PITX3 34 35
  • 90.95 (n)
mouse
(Mus musculus)
Mammalia Pitx3 34 16 35
  • 89.74 (n)
rat
(Rattus norvegicus)
Mammalia Pitx3 34
  • 89.62 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PITX3 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves PITX3 34 35
  • 70.5 (n)
lizard
(Anolis carolinensis)
Reptilia PITX3 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pitx3 34
  • 66.55 (n)
zebrafish
(Danio rerio)
Actinopterygii pitx3 34 35
  • 70.2 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ptx1 36 35
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-30 35
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 27 (a)
OneToMany
Species where no ortholog for PITX3 was found in the sources mined by GeneCards:
  • 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

(4) 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
rs104894175 Pathogenic, Cataract 11, multiple types (CTRCT11) [MIM:610623] 102,232,043(-) CCGGA(A/G)CCCTG reference, missense
rs1057518058 Likely pathogenic 102,230,777(-) CCCTG(C/T)AGGGC reference, stop-gained
rs367562631 Uncertain significance 102,232,039(+) AGGGC(A/G)GGGCT reference, synonymous-codon
rs2281983 Benign 102,231,624(-) GAGAT(A/C/T)GCCGT reference, synonymous-codon
rs1000138388 -- 102,233,605(+) AGCCT(C/G)TTTTG intron-variant

Variation tolerance for PITX3 Gene

Residual Variation Intolerance Score: 32.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.48; 10.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PITX3 Gene

Human Gene Mutation Database (HGMD)
PITX3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PITX3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PITX3 Gene

Disorders for PITX3 Gene

MalaCards: The human disease database

(19) MalaCards diseases for PITX3 Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
anterior segment mesenchymal dysgenesis
  • anterior segment ocular dysgenesis
cataract 11, multiple types
  • cataract 11, syndromic
cataract-glaucoma
  • cataract-glaucoma syndrome
pitx3-related anterior segment mesenchymal dysgenesis
cataract 16, multiple types
  • cataract 16 multiple types
- elite association - COSMIC cancer census association via MalaCards
Search PITX3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PITX3_HUMAN
  • Anterior segment dysgenesis 1 (ASGD1) [MIM:107250]: A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, 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.

Relevant External Links for PITX3

Genetic Association Database (GAD)
PITX3
Human Genome Epidemiology (HuGE) Navigator
PITX3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PITX3
genes like me logo Genes that share disorders with PITX3: view

No data available for Genatlas for PITX3 Gene

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 22 64
  2. Association of transcription factor polymorphisms PITX3 and EN1 with Parkinson's disease. (PMID: 19345444) Haubenberger D. … Zimprich A. (Neurobiol. Aging 2011) 3 46 64
  3. Transcription factor PITX3 gene in Parkinson's disease. (PMID: 19394114) Le W. … Jankovic J. (Neurobiol. Aging 2011) 3 46 64
  4. PITX3 polymorphism is associated with early onset Parkinson's disease. (PMID: 18420308) Bergman O. … Nissbrandt H. (Neurobiol. Aging 2010) 3 46 64
  5. Analysis of the Micro-RNA-133 and PITX3 genes in Parkinson's disease. (PMID: 20468068) de Mena L. … Alvarez V. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 46 64

Products for PITX3 Gene

Sources for PITX3 Gene

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