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PITX2 paired-like homeodomain 2 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000325 Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 3, mRNA. GenEZ ORF Cloning In-stock $418.00 $369.00 10
NM_001204397 Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA. GenEZ ORF Cloning On-demand $549.00 14
NM_001204398 Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 5, mRNA. GenEZ ORF Cloning On-demand $549.00 14
NM_001204399 Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 6, mRNA. GenEZ ORF Cloning In-stock $348.00 $299.00 10
NM_153426 Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $549.00 14
NM_153427 Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $348.00 $299.00 10
XM_006714235 PREDICTED: Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $549.00 14

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Gene Symbol PITX2
Entrez Gene ID 5308
Full Name paired-like homeodomain 2
Synonyms ARP1, Brx1, IDG2, IGDS, IGDS2, IHG2, IRID2, Otlx2, PTX2, RGS, RIEG, RIEG1, RS
General protein information
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

4

4q25

Summary 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].
Disorder

MIM: 601542

Axenfeld-Rieger syndrome, type 1, 180500 (3); Iridogoniodysgenesis,

mRNA Protein Product Sequence Price Select
NM_000325, 152963645 NP_000316, 21361183 pituitary homeobox 2 isoform c ORF Sequence $269.00
NM_001204397, 324710991 NP_001191326, 324710992 pituitary homeobox 2 isoform b ORF Sequence $400.00
NM_001204398, 324710993 NP_001191327, 324710994 pituitary homeobox 2 isoform b ORF Sequence $400.00
NM_001204399, 324710995 NP_001191328, 324710996 pituitary homeobox 2 isoform a ORF Sequence $199.00
NM_153426, 324711005 NP_700475, 24234708 pituitary homeobox 2 isoform b ORF Sequence $400.00
NM_153427, 324711006 NP_700476, 24234711 pituitary homeobox 2 isoform a ORF Sequence $199.00
XM_006714235, 578809166 XP_006714298, 578809167 pituitary homeobox 2 isoform X1 ORF Sequence $400.00
KEGG
hsa04350TGF-beta signaling pathway
WikiPathways
WP1591Heart Development
WP2377Integrated Pancreatic Cancer Pathway
Pathway Interaction Database
wnt_beta_catenin_pathwayRegulation of Wnt-mediated beta catenin signaling and target gene transcription
Homo sapiens (human)PITX2NP_000316.2
Pan troglodytes (chimpanzee)PITX2XP_001141234.1
Macaca mulatta (Rhesus monkey)PITX2XP_001091288.1
Canis lupus familiaris (dog)PITX2XP_851370.1
Bos taurus (cattle)PITX2NP_001091460.1
Mus musculus (house mouse)Pitx2NP_001035967.1
Rattus norvegicus (Norway rat)Pitx2NP_001035970.1
Gallus gallus (chicken)PITX2NP_990341.1
Danio rerio (zebrafish)pitx2NP_571050.1
Drosophila melanogaster (fruit fly)Ptx1NP_733410.2
Xenopus (Silurana) tropicalis (western clawed frog)pitx2NP_001017227.1
Process
IDNameEvidence
GO:0000122negative regulation of transcription from RNA polymerase II promoterIDA
GO:0001569patterning of blood vesselsIEA
GO:0001570vasculogenesisIEA
GO:0001701in utero embryonic developmentIEA
GO:0001764neuron migrationIEA
GO:0002074extraocular skeletal muscle developmentIEA
GO:0003171atrioventricular valve developmentIEA
GO:0003253cardiac neural crest cell migration involved in outflow tract morphogenesisISS
GO:0003350pulmonary myocardium developmentIEA
GO:0006355regulation of transcription, DNA-templatedIDA
GO:0006357regulation of transcription from RNA polymerase II promoterIDA
GO:0006366transcription from RNA polymerase II promoterIEA
GO:0007368determination of left/right symmetryISS
GO:0007520myoblast fusionIEA
GO:0008584male gonad developmentIEA
GO:0008585female gonad developmentIEA
GO:0009725response to hormoneIEA
GO:0016055Wnt signaling pathwayIEA
GO:0021763subthalamic nucleus developmentIEA
GO:0021855hypothalamus cell migrationIEA
GO:0030334regulation of cell migrationIEA
GO:0031076embryonic camera-type eye developmentIEA
GO:0033189response to vitamin AIEA
GO:0035116embryonic hindlimb morphogenesisIEA
GO:0035315hair cell differentiationIC
GO:0035886vascular smooth muscle cell differentiationIEA
GO:0035993deltoid tuberosity developmentIMP
GO:0042475odontogenesis of dentin-containing toothIEA
GO:0042476odontogenesisIMP
GO:0043010camera-type eye developmentIMP
GO:0043388positive regulation of DNA bindingIEA
GO:0045944positive regulation of transcription from RNA polymerase II promoterIDA
GO:0048536spleen developmentISS
GO:0048557embryonic digestive tract morphogenesisIEA
GO:0055009atrial cardiac muscle tissue morphogenesisIEA
GO:0055015ventricular cardiac muscle cell developmentIEA
GO:0060126somatotropin secreting cell differentiationTAS
GO:0060127prolactin secreting cell differentiationTAS
GO:0060412ventricular septum morphogenesisIEA
GO:0060460left lung morphogenesisIEA
GO:0060577pulmonary vein morphogenesisIEA
GO:0060578superior vena cava morphogenesisIEA
GO:0061031endodermal digestive tract morphogenesisIEA
GO:0061072iris morphogenesisIMP
GO:0061325cell proliferation involved in outflow tract morphogenesisISS
GO:0070986left/right axis specificationISS
GO:2000288positive regulation of myoblast proliferationIEA
Component
IDNameEvidence
GO:0005634nucleusIDA
GO:0005667transcription factor complexIDA
GO:0005737cytoplasmIEA
Function
IDNameEvidence
GO:0000976transcription regulatory region sequence-specific DNA bindingIDA
GO:0000978RNA polymerase II core promoter proximal region sequence-specific DNA bindingIEA
GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcriptionIEA
GO:0001078RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcriptionIDA
GO:0001085RNA polymerase II transcription factor bindingIPI
GO:0001102RNA polymerase II activating transcription factor bindingIPI
GO:0001105RNA polymerase II transcription coactivator activityIDA
GO:0001191RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcriptionIDA
GO:0003700sequence-specific DNA binding transcription factor activityIDA
GO:0005515protein bindingIPI
GO:0008134transcription factor bindingIPI
GO:0031490chromatin DNA bindingIEA
GO:0042803protein homodimerization activityIPI
GO:0043021ribonucleoprotein complex bindingIC
GO:0051219phosphoprotein bindingIPI
GeneCards PITX2
UniProt Q99697
Vega OTTHUMG00000132837
MIM 601542
Ensembl ENSG00000164093
HGNC 9005
HPRD 03328

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the PITX2 gene?

The PITX2 gene provides instructions for making a protein that attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this action, the PITX2 protein is called a transcription factor. The PITX2 gene is part of a family of homeobox genes, which act during early embryonic development to control the formation of many parts of the body.

The PITX2 protein plays a critical role in early development, particularly in the formation of structures in the front part of the eye (the anterior segment). These structures include the colored part of the eye (the iris), the lens of the eye, and the clear front covering of the eye (the cornea). Studies suggest that the PITX2 protein also has functions in the adult eye, such as helping cells respond to oxidative stress. Oxidative stress occurs when unstable molecules called free radicals accumulate to levels that can damage or kill cells.

The PITX2 protein is also involved in the normal development of other parts of the body, including the teeth, heart, and abdominal organs.

Interactant

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