Details for: PITX2

Gene ID: 5308

Symbol: PITX2

Ensembl ID: ENSG00000164093

Description: paired like homeodomain 2

Associated with

  • Gene expression (transcription)
    (R-HSA-74160)
  • Generic transcription pathway
    (R-HSA-212436)
  • Rna polymerase ii transcription
    (R-HSA-73857)
  • Tfap2 (ap-2) family regulates transcription of other transcription factors
    (R-HSA-8866906)
  • Transcriptional regulation by the ap-2 (tfap2) family of transcription factors
    (R-HSA-8864260)
  • Anatomical structure morphogenesis
    (GO:0009653)
  • Camera-type eye development
    (GO:0043010)
  • Cardiac neural crest cell migration involved in outflow tract morphogenesis
    (GO:0003253)
  • Chromatin
    (GO:0000785)
  • Cytoplasm
    (GO:0005737)
  • Deltoid tuberosity development
    (GO:0035993)
  • Determination of left/right symmetry
    (GO:0007368)
  • Dna-binding transcription factor activity
    (GO:0003700)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Dna-binding transcription factor binding
    (GO:0140297)
  • Dna-binding transcription repressor activity, rna polymerase ii-specific
    (GO:0001227)
  • Embryonic heart tube left/right pattern formation
    (GO:0060971)
  • Hair cell differentiation
    (GO:0035315)
  • Identical protein binding
    (GO:0042802)
  • Iris morphogenesis
    (GO:0061072)
  • Left/right axis specification
    (GO:0070986)
  • Negative regulation of transcription by rna polymerase ii
    (GO:0000122)
  • Nucleoplasm
    (GO:0005654)
  • Nucleus
    (GO:0005634)
  • Odontogenesis
    (GO:0042476)
  • Outflow tract morphogenesis
    (GO:0003151)
  • Phosphoprotein binding
    (GO:0051219)
  • Positive regulation of cell population proliferation
    (GO:0008284)
  • Positive regulation of transcription by rna polymerase ii
    (GO:0045944)
  • Prolactin secreting cell differentiation
    (GO:0060127)
  • Protein binding
    (GO:0005515)
  • Protein homodimerization activity
    (GO:0042803)
  • Regulation of dna-templated transcription
    (GO:0006355)
  • Regulation of transcription by rna polymerase ii
    (GO:0006357)
  • Ribonucleoprotein complex binding
    (GO:0043021)
  • Rna polymerase ii-specific dna-binding transcription factor binding
    (GO:0061629)
  • Rna polymerase ii cis-regulatory region sequence-specific dna binding
    (GO:0000978)
  • Sequence-specific double-stranded dna binding
    (GO:1990837)
  • Somatotropin secreting cell differentiation
    (GO:0060126)
  • Spleen development
    (GO:0048536)
  • Transcription cis-regulatory region binding
    (GO:0000976)
  • Transcription regulator complex
    (GO:0005667)

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: ileal goblet cell (CL1000326)
    Fold Change: 15.4093
    Cell Significance Index: -10.3400
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 5.8732
    Cell Significance Index: 63.8500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 4.3190
    Cell Significance Index: -11.5700
  • Cell Name: colon endothelial cell (CL1001572)
    Fold Change: 3.7342
    Cell Significance Index: 2.8500
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 2.7602
    Cell Significance Index: 43.7900
  • Cell Name: epithelial cell of lacrimal sac (CL1000436)
    Fold Change: 2.2651
    Cell Significance Index: 16.3000
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 1.4195
    Cell Significance Index: 14.7000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.1113
    Cell Significance Index: 127.3200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.0315
    Cell Significance Index: 102.0400
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 1.0011
    Cell Significance Index: 15.0000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.9980
    Cell Significance Index: 28.7600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.9845
    Cell Significance Index: 888.9400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.8192
    Cell Significance Index: 49.1800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.7905
    Cell Significance Index: 85.9900
  • Cell Name: myoblast (CL0000056)
    Fold Change: 0.7439
    Cell Significance Index: 7.3100
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.7047
    Cell Significance Index: 17.2000
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 0.7028
    Cell Significance Index: 11.3400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6665
    Cell Significance Index: 108.4000
  • Cell Name: embryonic fibroblast (CL2000042)
    Fold Change: 0.6648
    Cell Significance Index: 3.1800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.5688
    Cell Significance Index: 258.1700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.4828
    Cell Significance Index: 21.8900
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.4473
    Cell Significance Index: 4.6700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4196
    Cell Significance Index: 29.0200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3716
    Cell Significance Index: 70.7200
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.3067
    Cell Significance Index: 6.4200
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.2774
    Cell Significance Index: 4.2200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.1895
    Cell Significance Index: 4.8700
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.1569
    Cell Significance Index: 3.8000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1540
    Cell Significance Index: 5.4100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.1158
    Cell Significance Index: 3.7100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0687
    Cell Significance Index: 4.8600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0624
    Cell Significance Index: 2.9100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0455
    Cell Significance Index: 20.1300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0404
    Cell Significance Index: 0.8600
  • Cell Name: perivascular cell (CL4033054)
    Fold Change: 0.0368
    Cell Significance Index: 0.1700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0326
    Cell Significance Index: 1.6500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.0225
    Cell Significance Index: 6.4700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0038
    Cell Significance Index: 7.1700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0046
    Cell Significance Index: -2.9200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0054
    Cell Significance Index: -10.0500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0066
    Cell Significance Index: -10.1000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0075
    Cell Significance Index: -5.5300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0093
    Cell Significance Index: -5.2700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0137
    Cell Significance Index: -10.4000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0156
    Cell Significance Index: -2.2700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0191
    Cell Significance Index: -10.4100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0270
    Cell Significance Index: -4.8700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0272
    Cell Significance Index: -3.4900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0303
    Cell Significance Index: -10.8800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0365
    Cell Significance Index: -3.7300
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0369
    Cell Significance Index: -1.5100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0421
    Cell Significance Index: -7.2000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0432
    Cell Significance Index: -0.9400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0443
    Cell Significance Index: -8.8000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0451
    Cell Significance Index: -9.5000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0461
    Cell Significance Index: -4.8000
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.0522
    Cell Significance Index: -1.0400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0528
    Cell Significance Index: -10.6000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0541
    Cell Significance Index: -6.6500
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0559
    Cell Significance Index: -0.8000
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0607
    Cell Significance Index: -0.6900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0664
    Cell Significance Index: -1.6600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0723
    Cell Significance Index: -8.4300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0779
    Cell Significance Index: -10.7000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0828
    Cell Significance Index: -9.7700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0832
    Cell Significance Index: -10.7500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0930
    Cell Significance Index: -2.6000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1126
    Cell Significance Index: -5.8500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1306
    Cell Significance Index: -2.7100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1313
    Cell Significance Index: -10.4000
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.1323
    Cell Significance Index: -1.8800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1347
    Cell Significance Index: -2.2600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1455
    Cell Significance Index: -9.1700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1457
    Cell Significance Index: -10.8600
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.1558
    Cell Significance Index: -2.3300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1595
    Cell Significance Index: -9.7800
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1943
    Cell Significance Index: -6.8100
  • Cell Name: brain vascular cell (CL4023072)
    Fold Change: -0.1995
    Cell Significance Index: -2.2800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2114
    Cell Significance Index: -11.0100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2115
    Cell Significance Index: -11.8700
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.2138
    Cell Significance Index: -2.8000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2153
    Cell Significance Index: -7.0500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2306
    Cell Significance Index: -12.1100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2345
    Cell Significance Index: -11.0200
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.2455
    Cell Significance Index: -3.7000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.2535
    Cell Significance Index: -6.7700
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2596
    Cell Significance Index: -9.5300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.2706
    Cell Significance Index: -7.3700
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.2723
    Cell Significance Index: -6.8000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2774
    Cell Significance Index: -10.5100
  • Cell Name: T-helper 17 cell (CL0000899)
    Fold Change: -0.2861
    Cell Significance Index: -2.1800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2987
    Cell Significance Index: -10.3800
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: -0.3001
    Cell Significance Index: -4.1500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3168
    Cell Significance Index: -9.0800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.3202
    Cell Significance Index: -8.5800
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.3289
    Cell Significance Index: -6.4200
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: -0.3311
    Cell Significance Index: -5.6600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3372
    Cell Significance Index: -10.7400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3415
    Cell Significance Index: -10.0600
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: -0.3497
    Cell Significance Index: -3.7900

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. **Transcriptional regulation:** PITX2 is a transcription factor that regulates the expression of target genes through binding to specific DNA sequences. 2. **Homeodomain structure:** The homeodomain of PITX2 is a critical region that enables it to bind to DNA and interact with other transcription factors. 3. **Cell-type specificity:** PITX2 is expressed in various cell types, including ciliary muscle cells, corneal endothelial cells, keratinocytes, and kidney epithelial cells. 4. **Developmental processes:** PITX2 is involved in the regulation of developmental processes, such as eye development, cardiac neural crest cell migration, and left/right symmetry specification. **Pathways and Functions:** 1. **Anatomical structure morphogenesis:** PITX2 regulates the development of anatomical structures, such as the iris and the left/right axis. 2. **Camera-type eye development:** PITX2 is essential for the development of the camera-type eye, including the cornea and the lens. 3. **Cardiac neural crest cell migration:** PITX2 regulates the migration and differentiation of cardiac neural crest cells, which are involved in the development of the outflow tract. 4. **Gene expression (transcription):** PITX2 regulates the expression of target genes through binding to specific DNA sequences and interacting with other transcription factors. 5. **Chromatin regulation:** PITX2 influences chromatin structure and function, which is critical for the regulation of gene expression. **Clinical Significance:** 1. **Genetic disorders:** PITX2 mutations have been associated with various genetic disorders, including Axenfeld-Rieger syndrome, which is characterized by iris anomalies and other ocular abnormalities. 2. **Cancer:** PITX2 has been implicated in the development and progression of certain cancers, including colon cancer and breast cancer. 3. **Neurological disorders:** PITX2 has been associated with neurological disorders, such as schizophrenia and autism spectrum disorder. 4. **Developmental abnormalities:** PITX2 mutations can lead to developmental abnormalities, including left/right axis specification and cardiac neural crest cell migration defects. In conclusion, PITX2 is a critical gene that plays a pivotal role in various developmental and tissue-specific processes. Its regulation of gene expression and interaction with other transcription factors make it an essential component of cellular function. Understanding the molecular mechanisms underlying PITX2 function can provide valuable insights into the development and treatment of genetic disorders and cancer.

Genular Protein ID: 2632469138

Symbol: PITX2_HUMAN

Name: ALL1-responsive protein ARP1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8944018

Title: Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome.

PubMed ID: 8944018

DOI: 10.1038/ng1296-392

PubMed ID: 9539779

Title: Identification and characterization of the ARP1 gene, a target for the human acute leukemia ALL1 gene.

PubMed ID: 9539779

DOI: 10.1073/pnas.95.8.4573

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 22919265

Title: Yeast two-hybrid analysis of a human trabecular meshwork cDNA library identified EFEMP2 as a novel PITX2 interacting protein.

PubMed ID: 22919265

PubMed ID: 22224469

Title: Structural and biophysical insights into the ligand-free Pitx2 homeodomain and a ring dermoid of the cornea inducing homeodomain mutant.

PubMed ID: 22224469

DOI: 10.1021/bi201639x

PubMed ID: 9437321

Title: Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene.

PubMed ID: 9437321

DOI: 10.1016/s0002-9394(99)80242-6

PubMed ID: 9618168

Title: Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome.

PubMed ID: 9618168

DOI: 10.1093/hmg/7.7.1113

PubMed ID: 10051017

Title: A mutation in the RIEG1 gene associated with Peters' anomaly.

PubMed ID: 10051017

PubMed ID: 10937553

Title: Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations.

PubMed ID: 10937553

PubMed ID: 11487566

Title: Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome.

PubMed ID: 11487566

DOI: 10.1093/hmg/10.16.1631

PubMed ID: 12381896

Title: Four novel mutations in the PITX2 gene in patients with Axenfeld-Rieger syndrome.

PubMed ID: 12381896

DOI: 10.1159/000065602

PubMed ID: 15591271

Title: Mutation in PITX2 is associated with ring dermoid of the cornea.

PubMed ID: 15591271

DOI: 10.1136/jmg.2004.022434

PubMed ID: 16936096

Title: Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations.

PubMed ID: 16936096

DOI: 10.1167/iovs.06-0343

PubMed ID: 20881294

Title: Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.

PubMed ID: 20881294

DOI: 10.1167/iovs.10-5309

Sequence Information:

  • Length: 317
  • Mass: 35370
  • Checksum: 00853AFDBA4433CB
  • Sequence:
  • METNCRKLVS ACVQLGVQPA AVECLFSKDS EIKKVEFTDS PESRKEAASS KFFPRQHPGA 
    NEKDKSQQGK NEDVGAEDPS KKKRQRRQRT HFTSQQLQEL EATFQRNRYP DMSTREEIAV 
    WTNLTEARVR VWFKNRRAKW RKRERNQQAE LCKNGFGPQF NGLMQPYDDM YPGYSYNNWA 
    AKGLTSASLS TKSFPFFNSM NVNPLSSQSM FSPPNSISSM SMSSSMVPSA VTGVPGSSLN 
    SLNNLNNLSS PSLNSAVPTP ACPYAPPTPP YVYRDTCNSS LASLRLKAKQ HSSFGYASVQ 
    NPASNLSACQ YAVDRPV

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.