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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
  • ARP1 3 4
  • RIEG 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
  • 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 Axenfeld-Rieger Syndrome, Type 1. Among its related pathways are Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors and Gene Expression. 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 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

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

Enhancers for PITX2 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
GH04F110613 1.9 ENCODE 12 +23.0 23020 10.3 PKNOX1 SIN3A FEZF1 ETS1 GLIS2 FOS ZNF391 EGR2 SP3 NFYA PITX2 ENSG00000250511 PANCR GC04P110636
GH04F110631 1.4 FANTOM5 Ensembl ENCODE 5.2 +7.3 7309 6.5 PKNOX1 INSM2 ZNF48 RAD21 ZEB1 ZNF366 SCRT2 ZNF548 FOS EGR2 ENPEP PITX2 GC04P110636 PANCR
GH04F110628 0.6 FANTOM5 4.9 +13.6 13562 0.4 CBX2 CTBP2 TCF7L2 EZH2 PITX2 GC04P110636 PANCR
GH04F110657 0.2 VISTA 0.3 -15.3 -15272 0.6 PITX2 GC04P110698
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PITX2 on UCSC Golden Path with GeneCards custom track

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

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:0000976 transcription regulatory region sequence-specific DNA binding IDA 9685346
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IEA --
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific 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

Flow Cytometry 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
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
plasma membrane 1
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for PITX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 19251162
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

Activates:
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

Transcripts for PITX2 Gene

Unigene Clusters for PITX2 Gene

Paired-like homeodomain 2:
Representative Sequences:

Flow Cytometry 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: - -
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 from GTEx, Illumina, BioGPS, and 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, PaxDb, MaxQB, and MOPED for PITX2 Gene



Protein tissue co-expression partners for PITX2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PITX2 Gene:

PITX2

SOURCE GeneReport for Unigene cluster for PITX2 Gene:

Hs.643588
genes like me logo Genes that share expression patterns with PITX2: view

Primer 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 34 35
  • 99.59 (n)
cow
(Bos Taurus)
Mammalia PITX2 34 35
  • 92.9 (n)
dog
(Canis familiaris)
Mammalia PITX2 34 35
  • 92.39 (n)
mouse
(Mus musculus)
Mammalia Pitx2 34 16 35
  • 91.46 (n)
rat
(Rattus norvegicus)
Mammalia Pitx2 34
  • 91.15 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PITX2 35
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PITX2 35
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves PITX2 34 35
  • 85.08 (n)
lizard
(Anolis carolinensis)
Reptilia PITX2 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pitx2 34
  • 76.57 (n)
Str.10206 34
African clawed frog
(Xenopus laevis)
Amphibia pitx2-A 34
zebrafish
(Danio rerio)
Actinopterygii pitx2 34 35
  • 76.01 (n)
pitx2a 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000190 34
  • 60 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ptx1 35 34 36
  • 58.56 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-30 35
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 30 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6135 34
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

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
rs104893857 Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500], Pathogenic 110,621,255(-) GGAGC(A/T)GGAGG reference, missense
rs104893858 Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500], Pathogenic 110,621,214(-) TGTCC(A/C)CACGC reference, missense
rs104893859 Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500], Pathogenic 110,618,669(-) TCGTC(C/G)GGCCA reference, missense
rs104893861 Iridogoniodysgenesis 2 (IRID2) [MIM:137600], Pathogenic 110,621,210(-) CACAC(A/G)CGAAG reference, missense
rs104893862 Ring dermoid of cornea (RDC) [MIM:180550], Pathogenic 110,621,231(-) GAACC(A/G)CTACC reference, missense

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

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

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

Human Gene Mutation Database (HGMD)
PITX2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PITX2

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

Disorders for PITX2 Gene

MalaCards: The human disease database

(24) 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
axenfeld-rieger syndrome, type 1
  • axenfeld-rieger syndrome type 1
iridogoniodysgenesis, type 2
  • iridogoniodysgenesis, type 1
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 22 64
  2. Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations. (PMID: 16936096) Weisschuh N. … Gramer E. (Invest. Ophthalmol. Vis. Sci. 2006) 3 4 22 64
  3. Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome. (PMID: 11487566) Priston M. … Heon E. (Hum. Mol. Genet. 2001) 3 4 22 64
  4. Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations. (PMID: 10937553) Perveen R. … Black G.C.M. (Invest. Ophthalmol. Vis. Sci. 2000) 4 22 46 64
  5. A mutation in the RIEG1 gene associated with Peters' anomaly. (PMID: 10051017) Doward W. … Black G.C.M. (J. Med. Genet. 1999) 3 4 46 64

Products for PITX2 Gene

Sources for PITX2 Gene

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