Details for: PITX3

Gene ID: 5309

Symbol: PITX3

Ensembl ID: ENSG00000107859

Description: paired like homeodomain 3

Associated with

  • Anatomical structure morphogenesis
    (GO:0009653)
  • Animal organ morphogenesis
    (GO:0009887)
  • Cellular response to glial cell derived neurotrophic factor
    (GO:1990792)
  • Chromatin
    (GO:0000785)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Dopaminergic neuron differentiation
    (GO:0071542)
  • Lens development in camera-type eye
    (GO:0002088)
  • Lens morphogenesis in camera-type eye
    (GO:0002089)
  • Midbrain development
    (GO:0030901)
  • Negative regulation of gliogenesis
    (GO:0014014)
  • Nucleus
    (GO:0005634)
  • Positive regulation of cell proliferation in midbrain
    (GO:1904935)
  • Positive regulation of dna-templated transcription
    (GO:0045893)
  • Positive regulation of neuron apoptotic process
    (GO:0043525)
  • Regulation of dna-templated transcription
    (GO:0006355)
  • Regulation of transcription by rna polymerase ii
    (GO:0006357)
  • Response to cocaine
    (GO:0042220)
  • Response to immobilization stress
    (GO:0035902)
  • Response to methamphetamine hydrochloride
    (GO:1904313)
  • Rna polymerase ii cis-regulatory region sequence-specific dna binding
    (GO:0000978)
  • Sequence-specific double-stranded dna binding
    (GO:1990837)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 2.2831
    Cell Significance Index: 24.8200
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.0062
    Cell Significance Index: 17.2000
  • Cell Name: muscle precursor cell (CL0000680)
    Fold Change: 0.8577
    Cell Significance Index: 5.8600
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.7981
    Cell Significance Index: 10.9500
  • Cell Name: myoblast (CL0000056)
    Fold Change: 0.6676
    Cell Significance Index: 6.5600
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.5056
    Cell Significance Index: 7.2400
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.2637
    Cell Significance Index: 2.7200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2244
    Cell Significance Index: 10.1700
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.1996
    Cell Significance Index: 4.8700
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.1810
    Cell Significance Index: 1.8900
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 0.1376
    Cell Significance Index: 2.2200
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.1084
    Cell Significance Index: 1.7200
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.1052
    Cell Significance Index: 0.9200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0706
    Cell Significance Index: 108.6900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0692
    Cell Significance Index: 1.7800
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: 0.0627
    Cell Significance Index: 0.7900
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.0626
    Cell Significance Index: 1.9800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0585
    Cell Significance Index: 79.5800
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 0.0572
    Cell Significance Index: 0.6200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0507
    Cell Significance Index: 93.4300
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: 0.0341
    Cell Significance Index: 0.5100
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.0241
    Cell Significance Index: 0.3500
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 0.0215
    Cell Significance Index: 0.2400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0207
    Cell Significance Index: 2.6600
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.0005
    Cell Significance Index: 0.0100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0004
    Cell Significance Index: 0.0700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0005
    Cell Significance Index: -0.8800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0014
    Cell Significance Index: -0.1600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0021
    Cell Significance Index: -1.3100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0025
    Cell Significance Index: -0.7300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0027
    Cell Significance Index: -2.0000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0027
    Cell Significance Index: -1.4800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0030
    Cell Significance Index: -0.4300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0033
    Cell Significance Index: -1.8800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0038
    Cell Significance Index: -0.7600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0040
    Cell Significance Index: -1.8100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0040
    Cell Significance Index: -0.8100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0040
    Cell Significance Index: -1.4200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0059
    Cell Significance Index: -0.4500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0059
    Cell Significance Index: -0.1700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0064
    Cell Significance Index: -0.3000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0086
    Cell Significance Index: -1.1100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0089
    Cell Significance Index: -1.5200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0106
    Cell Significance Index: -1.4500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0115
    Cell Significance Index: -1.4200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0118
    Cell Significance Index: -0.6200
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: -0.0150
    Cell Significance Index: -0.2100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0156
    Cell Significance Index: -1.5900
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: -0.0156
    Cell Significance Index: -0.2000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0159
    Cell Significance Index: -0.5100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0172
    Cell Significance Index: -1.9700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0185
    Cell Significance Index: -1.3800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0186
    Cell Significance Index: -0.9400
  • Cell Name: tongue muscle cell (CL0002673)
    Fold Change: -0.0187
    Cell Significance Index: -0.1400
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.0194
    Cell Significance Index: -0.2900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0232
    Cell Significance Index: -1.5600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0234
    Cell Significance Index: -1.1000
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.0263
    Cell Significance Index: -0.3400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0264
    Cell Significance Index: -1.6200
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: -0.0264
    Cell Significance Index: -0.2400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0269
    Cell Significance Index: -0.7200
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0275
    Cell Significance Index: -0.6800
  • Cell Name: muscle fibroblast (CL1001609)
    Fold Change: -0.0294
    Cell Significance Index: -0.1800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0298
    Cell Significance Index: -1.8300
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0299
    Cell Significance Index: -1.2200
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.0304
    Cell Significance Index: -0.3900
  • Cell Name: effector CD4-positive, alpha-beta T cell (CL0001044)
    Fold Change: -0.0327
    Cell Significance Index: -0.3000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0328
    Cell Significance Index: -1.8400
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0332
    Cell Significance Index: -0.4900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0345
    Cell Significance Index: -1.2100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0350
    Cell Significance Index: -0.9800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0371
    Cell Significance Index: -1.2900
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0372
    Cell Significance Index: -0.9300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0377
    Cell Significance Index: -1.9800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0387
    Cell Significance Index: -1.1100
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.0393
    Cell Significance Index: -0.8000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0419
    Cell Significance Index: -1.1400
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.0419
    Cell Significance Index: -0.5300
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: -0.0426
    Cell Significance Index: -0.4500
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: -0.0428
    Cell Significance Index: -0.5200
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: -0.0446
    Cell Significance Index: -0.4300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0452
    Cell Significance Index: -1.4800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0458
    Cell Significance Index: -1.4600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0463
    Cell Significance Index: -2.0500
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.0473
    Cell Significance Index: -0.6200
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0479
    Cell Significance Index: -1.2200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0484
    Cell Significance Index: -0.8100
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0509
    Cell Significance Index: -1.5000
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: -0.0514
    Cell Significance Index: -0.6500
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.0528
    Cell Significance Index: -0.9100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0539
    Cell Significance Index: -2.0400
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0545
    Cell Significance Index: -1.3600
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0550
    Cell Significance Index: -1.5700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0554
    Cell Significance Index: -1.4800
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.0573
    Cell Significance Index: -0.9200
  • Cell Name: pulmonary capillary endothelial cell (CL4028001)
    Fold Change: -0.0577
    Cell Significance Index: -0.7900
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: -0.0579
    Cell Significance Index: -0.5600
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0583
    Cell Significance Index: -1.2100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0586
    Cell Significance Index: -2.0600
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: -0.0593
    Cell Significance Index: -0.8200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Transcription Factor**: PITX3 is a member of the paired-like homeodomain family of transcription factors, which are essential regulators of gene expression during development and tissue homeostasis. 2. **Diverse Expression Pattern**: PITX3 is expressed in a wide range of cell types, including neurons, glial cells, epithelial cells, and immune cells, underscoring its multifaceted functions. 3. **Regulatory Motifs**: The PITX3 protein contains several regulatory motifs, including a paired-like homeodomain and a DNA-binding domain, which enable it to interact with specific DNA sequences and regulate gene expression. **Pathways and Functions:** 1. **Neurodevelopment**: PITX3 plays a critical role in the development and differentiation of neurons, particularly in the midbrain and cerebral cortex. It regulates the expression of genes involved in neuronal proliferation, differentiation, and survival. 2. **Gliogenesis**: PITX3 negatively regulates gliogenesis, the process by which glial cells differentiate from precursor cells. This function is essential for maintaining the balance between neuronal and glial cell populations. 3. **Cell Proliferation**: PITX3 regulates cell proliferation in various tissues, including the midbrain and lens, by controlling the expression of genes involved in cell cycle progression. 4. **Apoptosis**: PITX3 promotes neuronal apoptosis, a process by which excess neurons undergo programmed cell death, which is essential for refining neural circuits during development. 5. **Cardiovascular Development**: PITX3 is involved in the development and differentiation of cardiac muscle cells, regulating the expression of genes involved in cardiac function and structure. **Clinical Significance:** 1. **Pituitary Tumors**: Mutations in the PITX3 gene have been identified in pituitary tumors, highlighting its role in tumorigenesis and tumor progression. 2. **Neurodegenerative Disorders**: PITX3 has been implicated in several neurodegenerative disorders, including Parkinson's disease, amyotrophic lateral sclerosis, and Huntington's disease, where it may contribute to disease pathogenesis. 3. **Cardiovascular Disease**: PITX3 has been linked to cardiovascular disease, particularly in the context of cardiac fibrosis and cardiac dysfunction. 4. **Cancer**: PITX3 has been identified as a tumor suppressor gene in certain types of cancer, including breast and lung cancer, where it regulates cell proliferation and apoptosis. In conclusion, PITX3 is a multifunctional transcription factor that plays a critical role in various developmental processes and has been implicated in several human diseases. Further research is needed to fully elucidate the mechanisms by which PITX3 regulates gene expression and its role in disease pathogenesis.

Genular Protein ID: 1884638302

Symbol: PITX3_HUMAN

Name: Pituitary homeobox 3

UniProtKB Accession Codes:

O75364 Q5VZL2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 3 Ensembl 1 GO 21 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PIRSF 1 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9620774

Title: A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD.

PubMed ID: 9620774

DOI: 10.1038/527

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15286169

Title: Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4).

PubMed ID: 15286169

DOI: 10.1136/jmg.2004.020289

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

Sequence Information:

  • Length: 302
  • Mass: 31832
  • Checksum: 1E5259206ABC2E87
  • Sequence:
    • MEFGLLSEAE ARSPALSLSD AGTPHPQLPE HGCKGQEHSD SEKASASLPG GSPEDGSLKK 
KQRRQRTHFT SQQLQELEAT FQRNRYPDMS TREEIAVWTN LTEARVRVWF KNRRAKWRKR 
ERSQQAELCK GSFAAPLGGL VPPYEEVYPG YSYGNWPPKA LAPPLAAKTF PFAFNSVNVG 
PLASQPVFSP PSSIAASMVP SAAAAPGTVP GPGALQGLGG GPPGLAPAAV SSGAVSCPYA 
SAAAAAAAAA SSPYVYRDPC NSSLASLRLK AKQHASFSYP AVHGPPPAAN LSPCQYAVER 
PV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.