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Aliases for PITX2 Gene

Aliases for PITX2 Gene

  • Paired Like Homeodomain 2 2 3 5
  • Paired-Like Homeodomain Transcription Factor 2 2 3 4
  • ALL1-Responsive Protein ARP1 3 4
  • Homeobox Protein PITX2 3 4
  • Solurshin 3 4
  • RIEG1 3 4
  • RIEG 3 4
  • ARP1 3 4
  • RGS 3 4
  • Rieg Bicoid-Related Homeobox Transcription Factor 1 3
  • RIEG Bicoid-Related Homeobox Transcription Factor 4
  • Paired-Like Homeodomain 2 2
  • All1-Responsive Gene 1 3
  • Pituitary Homeobox 2 3
  • ASGD4 3
  • IGDS2 3
  • Otlx2 3
  • IRID2 3
  • Brx1 3
  • IDG2 3
  • IGDS 3
  • PTX2 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 Axenfeld-Rieger Syndrome, Type 1. Among its related pathways are Gene Expression and TGF-beta signaling pathway (KEGG). Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is PITX1.

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

Additional gene information for PITX2 Gene

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

Genomics for PITX2 Gene

GeneHancer (GH) Regulatory Elements for PITX2 Gene

Promoters and enhancers for PITX2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J110613 Promoter/Enhancer 1.9 UCNEbase EPDnew ENCODE dbSUPER 662 +23.0 23020 10.3 PKNOX1 SIN3A FEZF1 RFX5 ETS1 ZNF335 GLIS2 ZNF143 FOS EGR2 PITX2 ENSG00000250511 PANCR GC04P110636
GH04J110633 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 650.4 +6.5 6539 5.1 INSM2 MZF1 ZEB1 ZNF335 ZNF366 SCRT2 ZNF143 ZNF548 EGR2 ZNF202 GC04P110636 PITX2 ENPEP PANCR
GH04J110631 Enhancer 0.9 FANTOM5 ENCODE 5.1 +10.1 10083 0.2 CTCF MXI1 PKNOX1 MAX BACH1 KDM3A ZNF48 RAD21 E2F1 POLR2A PITX2 GC04P110636 PANCR
GH04J110628 Enhancer 0.5 FANTOM5 4.9 +13.6 13561 0.4 POLR2A CTBP2 TCF7L2 PITX2 GC04P110636 PANCR
GH04J110657 Enhancer 0.2 VISTA 0.4 -15.3 -15271 0.6 PITX2 GC04P110698
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PITX2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PITX2 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun

Genomic Locations for PITX2 Gene

Genomic Locations for PITX2 Gene
24,701 bases
Minus strand
24,701 bases
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:
    Recommended name:
    Pituitary homeobox 2
    Protein Accession:
    Secondary Accessions:
    • A8K6C6
    • B2RA02
    • B3KXS0
    • O60578
    • O60579
    • O60580
    • Q3KQX9
    • Q9BY17

    Protein attributes for PITX2 Gene

    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


neXtProt entry for PITX2 Gene

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

No data available for DME Specific Peptides for PITX2 Gene

Domains & Families for PITX2 Gene

Gene Families for PITX2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for PITX2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the paired homeobox family. Bicoid subfamily.
  • 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

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).
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

Phenotypes From GWAS Catalog for PITX2 Gene

Gene Ontology (GO) - Molecular Function for PITX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IDA 9685346
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0001102 RNA polymerase II activating transcription factor binding IPI 9685346
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

CRISPR Products

Clone 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

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 PITX2 gene
Compartment Confidence
nucleus 5
extracellular 2
cytoskeleton 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PITX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 19251162
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IDA 15385555
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with PITX2: view

Pathways & Interactions for PITX2 Gene

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

SIGNOR curated interactions for PITX2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PITX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001569 branching involved in blood vessel morphogenesis IEA --
GO:0001570 vasculogenesis IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001764 neuron migration IEA --
GO:0002074 extraocular skeletal muscle development IEA --
genes like me logo Genes that share ontologies with PITX2: view

Drugs & Compounds for PITX2 Gene

(18) Drugs for PITX2 Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
CCG-63802 Pharma RGS protein inhibitor 0
CCG-63808 Pharma Reversible RGS inhibitor 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) ApexBio Compounds for PITX2 Gene

Compound Action Cas Number
CCG-63802 RGS protein inhibitor 620112-78-9
CCG-63808 Reversible RGS inhibitor 620113-73-7
genes like me logo Genes that share compounds with PITX2: view

Drug Products

Transcripts for PITX2 Gene

mRNA/cDNA for PITX2 Gene

Unigene Clusters for PITX2 Gene

Paired-like homeodomain 2:
Representative Sequences:

CRISPR Products

Clone Products

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: - -

Relevant External Links for PITX2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PITX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for PITX2 Gene

Protein tissue co-expression partners for PITX2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PITX2 Gene:


SOURCE GeneReport for Unigene cluster for PITX2 Gene:


Evidence on tissue expression from TISSUES for PITX2 Gene

  • Nervous system(4.4)
  • Lung(4.1)
  • Eye(2.7)
  • Heart(2.3)
  • Muscle(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PITX2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • nose
  • pituitary gland
  • skull
  • tooth
  • heart
  • heart valve
  • abdominal wall
  • intestine
  • large intestine
  • anus
  • penis
  • rectum
  • testicle
  • urethra
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with PITX2: view

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
(Pan troglodytes)
Mammalia PITX2 34 33
  • 99.59 (n)
(Bos Taurus)
Mammalia PITX2 34 33
  • 92.9 (n)
(Canis familiaris)
Mammalia PITX2 34 33
  • 92.39 (n)
(Mus musculus)
Mammalia Pitx2 16 34 33
  • 91.46 (n)
(Rattus norvegicus)
Mammalia Pitx2 33
  • 91.15 (n)
(Ornithorhynchus anatinus)
Mammalia PITX2 34
  • 67 (a)
(Monodelphis domestica)
Mammalia PITX2 34
  • 53 (a)
(Gallus gallus)
Aves PITX2 34 33
  • 85.08 (n)
(Anolis carolinensis)
Reptilia PITX2 34
  • 82 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pitx2 33
  • 76.57 (n)
Str.10206 33
African clawed frog
(Xenopus laevis)
Amphibia pitx2-A 33
(Danio rerio)
Actinopterygii pitx2 34 33
  • 76.01 (n)
pitx2a 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000190 33
  • 60 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ptx1 34 35 33
  • 58.56 (n)
(Caenorhabditis elegans)
Secernentea unc-30 34
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
Cin.6135 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6135 33
Species where no ortholog for PITX2 was found in the sources mined by GeneCards:
  • 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

Gene Tree for PITX2 (if available)
Gene Tree for PITX2 (if available)
Evolutionary constrained regions (ECRs) for PITX2: view image

Paralogs for PITX2 Gene

Paralogs for PITX2 Gene

(20) SIMAP similar genes for PITX2 Gene using alignment to 5 proteins:

  • U3KQ81_HUMAN
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 Variation AA Info Type
rs104893857 pathogenic, Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500] 110,621,255(-) A/T coding_sequence_variant, missense_variant
rs104893858 pathogenic, Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500] 110,621,214(-) T/C/G coding_sequence_variant, missense_variant
rs104893859 pathogenic, uncertain-significance, Axenfeld-Rieger syndrome type 1, not specified, Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500] 110,618,669(-) C/G/T coding_sequence_variant, missense_variant
rs104893860 pathogenic, Axenfeld-Rieger syndrome type 1 110,618,542(-) C/T coding_sequence_variant, stop_gained
rs104893861 pathogenic, Iridogoniodysgenesis, dominant type, not provided, Anterior segment dysgenesis 4 (ASGD4) [MIM:137600] 110,621,210(-) C/T coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv2728138 CNV deletion 23290073
esv3564442 CNV deletion 23714750
nsv1007337 CNV loss 25217958
nsv292028 CNV deletion 16902084
nsv4464 CNV insertion 18451855
nsv830036 CNV gain 17160897
nsv950378 CNV deletion 24416366

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)

Additional Variant Information for PITX2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PITX2 Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
Search PITX2 in MalaCards View complete list of genes associated with diseases


  • 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.
  • Anterior segment dysgenesis 4 (ASGD4) [MIM:137600]: 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. ASGD4 is an autosomal dominant disease. {ECO:0000269 PubMed:10051017, ECO:0000269 PubMed:20881294, ECO:0000269 PubMed:9437321, ECO:0000269 PubMed:9618168}. 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.

Additional Disease Information for PITX2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 CM (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 22 58
  2. Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations. (PMID: 20881294) D'haene B … De Baere E (Investigative ophthalmology & visual science 2011) 3 4 44 58
  3. Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations. (PMID: 16936096) Weisschuh N … Gramer E (Investigative ophthalmology & visual science 2006) 3 4 22 58
  4. Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome. (PMID: 11487566) Priston M … Héon E (Human molecular genetics 2001) 3 4 22 58
  5. Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations. (PMID: 10937553) Perveen R … Black GC (Investigative ophthalmology & visual science 2000) 4 22 44 58

Products for PITX2 Gene

Sources for PITX2 Gene

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