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Aliases for PITX2 Gene

Aliases for PITX2 Gene

  • Paired Like Homeodomain 2 2 3
  • Paired-Like Homeodomain Transcription Factor 2 2 3 4
  • Paired-Like Homeodomain 2 2 3 5
  • ALL1-Responsive Protein ARP1 3 4
  • Homeobox Protein PITX2 3 4
  • Solurshin 3 4
  • RIEG1 3 4
  • ARP1 3 4
  • RIEG 3 4
  • RGS 3 4
  • Rieg Bicoid-Related Homeobox Transcription Factor 1 3
  • RIEG Bicoid-Related Homeobox Transcription Factor 4
  • All1-Responsive Gene 1 3
  • IGDS2 3
  • Otlx2 3
  • IRID2 3
  • PTX2 3
  • Brx1 3
  • IDG2 3
  • IGDS 3
  • IHG2 3
  • RS 3

External Ids for PITX2 Gene

Previous HGNC Symbols for PITX2 Gene

  • IRID2
  • IHG2
  • RIEG
  • RIEG1
  • RGS

Previous GeneCards Identifiers for PITX2 Gene

  • GC04M111944
  • GC04M111820
  • GC04M111997
  • GC04M111896
  • GC04M111758
  • GC04M111538
  • GC04M107270

Summaries for PITX2 Gene

Entrez Gene Summary for PITX2 Gene

  • This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. Mutations in this gene are associated with Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome, and sporadic cases of Peters anomaly. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for PITX2 Gene

PITX2 (Paired Like Homeodomain 2) is a Protein Coding gene. Diseases associated with PITX2 include ring dermoid of cornea and iridogoniodysgenesis, type 2. Among its related pathways are Integrated Pancreatic Cancer Pathway and TGF-beta signaling pathway (KEGG). GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is PITX3.

UniProtKB/Swiss-Prot for PITX2 Gene

  • Controls cell proliferation in a tissue-specific manner and is involved in morphogenesis. During embryonic development, exerts a role in the expansion of muscle progenitors. May play a role in the proper localization of asymmetric organs such as the heart and stomach. Isoform PTX2C is involved in left-right asymmetry the developing embryo (By similarity).

Gene Wiki entry for PITX2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PITX2 Gene

Genomics for PITX2 Gene

Regulatory Elements for PITX2 Gene

Transcription factor binding sites by QIAGEN in the PITX2 gene promoter:

Genomic Location for PITX2 Gene

Chromosome:
4
Start:
110,617,423 bp from pter
End:
110,642,123 bp from pter
Size:
24,701 bases
Orientation:
Minus strand

Genomic View for PITX2 Gene

Genes around PITX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PITX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PITX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PITX2 Gene

Proteins for PITX2 Gene

  • Protein details for PITX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99697-PITX2_HUMAN
    Recommended name:
    Pituitary homeobox 2
    Protein Accession:
    Q99697
    Secondary Accessions:
    • A8K6C6
    • B2RA02
    • B3KXS0
    • O60578
    • O60579
    • O60580
    • Q3KQX9
    • Q9BY17

    Protein attributes for PITX2 Gene

    Size:
    317 amino acids
    Molecular mass:
    35370 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PITX2 Gene

    Alternative splice isoforms for PITX2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PITX2 Gene

Proteomics data for PITX2 Gene at MOPED

Post-translational modifications for PITX2 Gene

  • Phosphorylation at Thr-90 impairs its association with the CCND1 mRNA-stabilizing complex thus shortening the half-life of CCND1.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for PITX2 Gene

Domains & Families for PITX2 Gene

Gene Families for PITX2 Gene

Suggested Antigen Peptide Sequences for PITX2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99697

UniProtKB/Swiss-Prot:

PITX2_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the paired homeobox family. Bicoid subfamily.
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 PITX2: view

Function for PITX2 Gene

Molecular function for PITX2 Gene

GENATLAS Biochemistry:
paired-like homeo domain 1,transcription factor 2,expressed in Rathke pouch at an early stage of pituitary development,in a subset of adult anterior pituitary cells,and in eye and brain tissues,playing a critical role in the intermediate steps controlling left-right asymetry,cardiac morphogenesis and embryonic rotation,binding POU1F1 with a resultant increase of binding to the bicoid homeo domain binding site
UniProtKB/Swiss-Prot Function:
Controls cell proliferation in a tissue-specific manner and is involved in morphogenesis. During embryonic development, exerts a role in the expansion of muscle progenitors. May play a role in the proper localization of asymmetric organs such as the heart and stomach. Isoform PTX2C is involved in left-right asymmetry the developing embryo (By similarity).

Gene Ontology (GO) - Molecular Function for PITX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001191 transcriptional repressor activity, RNA polymerase II transcription factor binding IDA 16449236
GO:0005515 protein binding IPI 9685346
GO:0008134 transcription factor binding IPI 15385555
genes like me logo Genes that share ontologies with PITX2: view
genes like me logo Genes that share phenotypes with PITX2: view

Human Phenotype Ontology for PITX2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PITX2 Gene

MGI Knock Outs for PITX2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PITX2 Gene

Localization for PITX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PITX2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PITX2 Gene COMPARTMENTS Subcellular localization image for PITX2 gene
Compartment Confidence
nucleus 5
cytoskeleton 1
extracellular 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for PITX2 Gene

Pathways & Interactions for PITX2 Gene

genes like me logo Genes that share pathways with PITX2: view

Pathways by source for PITX2 Gene

SIGNOR curated interactions for PITX2 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for PITX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 16449236
GO:0001764 neuron migration IEA --
GO:0002074 extraocular skeletal muscle development IEA --
GO:0003171 atrioventricular valve development IEA --
GO:0003253 cardiac neural crest cell migration involved in outflow tract morphogenesis ISS --
genes like me logo Genes that share ontologies with PITX2: view

Drugs & Compounds for PITX2 Gene

(15) Drugs for PITX2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(11) Additional Compounds for PITX2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PITX2: view

Transcripts for PITX2 Gene

Unigene Clusters for PITX2 Gene

Paired-like homeodomain 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PITX2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c
SP1: -
SP2: - - -
SP3: - -
SP4:
SP5:

Relevant External Links for PITX2 Gene

GeneLoc Exon Structure for
PITX2
ECgene alternative splicing isoforms for
PITX2

Expression for PITX2 Gene

mRNA expression in normal human tissues for PITX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PITX2 Gene

This gene is overexpressed in Muscle - Skeletal (x15.7), Bladder (x8.8), Pituitary (x7.3), and Esophagus - Muscularis (x4.1).

Protein differential expression in normal tissues from HIPED for PITX2 Gene

This gene is overexpressed in Plasma (51.2) and Peripheral blood mononuclear cells (17.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PITX2 Gene



SOURCE GeneReport for Unigene cluster for PITX2 Gene Hs.643588

genes like me logo Genes that share expression patterns with PITX2: view

Protein tissue co-expression partners for PITX2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for PITX2 Gene

Orthologs for PITX2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PITX2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PITX2 36
  • 100 (a)
OneToOne
PITX2 35
  • 99.59 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia PITX2 35
  • 92.9 (n)
  • 98.77 (a)
PITX2 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PITX2 36
  • 98 (a)
OneToOne
PITX2 35
  • 92.39 (n)
  • 97.84 (a)
mouse
(Mus musculus)
Mammalia Pitx2 16
Pitx2 36
  • 98 (a)
OneToOne
Pitx2 35
  • 91.46 (n)
  • 97.84 (a)
oppossum
(Monodelphis domestica)
Mammalia PITX2 36
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PITX2 36
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pitx2 35
  • 91.15 (n)
  • 97.22 (a)
chicken
(Gallus gallus)
Aves PITX2 35
  • 85.08 (n)
  • 92.9 (a)
PITX2 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PITX2 36
  • 82 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia pitx2-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia pitx2 35
  • 76.57 (n)
  • 86.69 (a)
Str.10206 35
zebrafish
(Danio rerio)
Actinopterygii pitx2 36
  • 88 (a)
OneToOne
pitx2 35
  • 76.01 (n)
  • 87.9 (a)
pitx2a 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000190 35
  • 60 (n)
  • 57.33 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ptx1 37
  • 47 (a)
Ptx1 35
  • 58.56 (n)
  • 57.8 (a)
Ptx1 36
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-30 36
  • 30 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6135 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 30 (a)
OneToMany
Species with no ortholog for PITX2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 PITX2 Gene

ENSEMBL:
Gene Tree for PITX2 (if available)
TreeFam:
Gene Tree for PITX2 (if available)

Paralogs for PITX2 Gene

Paralogs for PITX2 Gene

genes like me logo Genes that share paralogs with PITX2: view

Variants for PITX2 Gene

Sequence variations from dbSNP and Humsavar for PITX2 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
VAR_003762 Iridogoniodysgenesis 2 (IRID2)
VAR_003763 Axenfeld-Rieger syndrome 1 (RIEG1)
VAR_003764 Axenfeld-Rieger syndrome 1 (RIEG1)
VAR_003765 Iridogoniodysgenesis 2 (IRID2)
VAR_003766 Axenfeld-Rieger syndrome 1 (RIEG1)

Structural Variations from Database of Genomic Variants (DGV) for PITX2 Gene

Variant ID Type Subtype PubMed ID
nsv830036 CNV Gain 17160897
esv2728138 CNV Deletion 23290073
nsv4464 CNV Insertion 18451855
nsv292028 CNV Loss 16902084

Variation tolerance for PITX2 Gene

Residual Variation Intolerance Score: 42.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.59; 12.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PITX2 Gene

HapMap Linkage Disequilibrium report
PITX2
Human Gene Mutation Database (HGMD)
PITX2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PITX2 Gene

Disorders for PITX2 Gene

MalaCards: The human disease database

(27) MalaCards diseases for PITX2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ring dermoid of cornea
  • bilateral, annular limbal dermoids with corneal and conjunctival extension
iridogoniodysgenesis, type 2
  • iridogoniodysgenesis, type 1
axenfeld-rieger syndrome, type 1
  • iridogoniodysgenesis with somatic anomalies
peters anomaly
  • peters-plus syndrome
axenfeld-rieger syndrome, type 3
  • anterior segment mesenchymal dysgenesis
- elite association - COSMIC cancer census association via MalaCards
Search PITX2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PITX2_HUMAN
  • Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]: An autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals. Additional features include aniridia, maxillary hypoplasia, hypodontia, anal stenosis, redundant periumbilical skin. {ECO:0000269 PubMed:10937553, ECO:0000269 PubMed:11487566, ECO:0000269 PubMed:12381896, ECO:0000269 PubMed:16936096, ECO:0000269 PubMed:8944018}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Iridogoniodysgenesis 2 (IRID2) [MIM:137600]: Autosomal dominant inherited disease. {ECO:0000269 PubMed:9437321, ECO:0000269 PubMed:9618168}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peters anomaly (PETAN) [MIM:604229]: Consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea. {ECO:0000269 PubMed:10051017}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ring dermoid of cornea (RDC) [MIM:180550]: An ocular disorder characterized by bilateral annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. {ECO:0000269 PubMed:15591271, ECO:0000269 PubMed:22224469}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PITX2

Genetic Association Database (GAD)
PITX2
Human Genome Epidemiology (HuGE) Navigator
PITX2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PITX2
genes like me logo Genes that share disorders with PITX2: view

No data available for Genatlas for PITX2 Gene

Publications for PITX2 Gene

  1. Identification and characterization of the ARP1 gene, a target for the human acute leukemia ALL1 gene. (PMID: 9539779) Arakawa H. … Croce C.M. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4 23 67
  2. Analysis of mutations of the PITX2 transcription factor found in patients with Axenfeld-Rieger syndrome. (PMID: 19218601) Footz T. … Walter M.A. (Invest. Ophthalmol. Vis. Sci. 2009) 3 23
  3. DNA methylation of the PITX2 gene promoter region is a strong independent prognostic marker of biochemical recurrence in patients with prostate cancer after radical prostatectomy. (PMID: 19233404) Weiss G. … Wheeler T. (J. Urol. 2009) 3 23
  4. Pitx2, a beta-catenin-regulated transcription factor, regulates the differentiation of outer root sheath cells cultured in vitro. (PMID: 19251162) Sohn K.C. … Kim C.D. (J. Dermatol. Sci. 2009) 3 23
  5. Human PRKC apoptosis WT1 regulator is a novel PITX2-interacting protein that regulates PITX2 transcriptional activity in ocular cells. (PMID: 19801652) Acharya M. … Walter M.A. (J. Biol. Chem. 2009) 3 23

Products for PITX2 Gene

Sources for PITX2 Gene

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