Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


Category   Symbol Source: HGNC EntrezGene Ensembl
GIFtS

Search by expression pattern Search by expression pattern



PITX2 Gene

protein-coding   GIFtS: 67

GC04M107270
paired-like homeodomain 2
(Previous name: paired-like homeodomain transcription factor 2 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: IRID2, IHG2, RIEG, RIEG1, RGS)
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
paired-like homeodomain 21 2     solurshin2
Paired-like homeodomain transcription factor 21 2 3     MGC1110222
ARP11 2 3     PTX22
RIEG12 3 5     pituitary homeo box 22
RGS2 3 5     OTTHUMP000002197512
IGDS1 2     rieg bicoid-related homeobox transcription factor 12
RS1 2     pituitary homeobox 22
Brx11 2     IHG22
Otlx21 2     IRID22
Homeobox protein PITX22 3     all1-responsive gene 12
RIEG2 3     OTTHUMP000001637362
ALL1-responsive protein ARP12 3     MGC201442
IDG22 5     RIEG bicoid-related homeobox transcription factor3
IGDS22 5     Solurshin3
OTTHUMP000002197502     

External Ids:    HGNC: 90051   Entrez Gene: 53082   Ensembl: ENSG000001640937   UniProtKB: Q996973   

Export aliases for PITX2 gene to outside databases

Previous GC identifers: GC04M111944 GC04M111820 GC04M111997 GC04M111896 GC04M111758 GC04M111538


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PITX2:
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)

UniProtKB/Swiss-Prot: PITX2_HUMAN, Q99697
Function: May play an important role in development and maintenance of anterior structures. Isoform PTX2C is involved
in left-right asymmetry the developing embryo (By similarity)

Gene Wiki entry for PITX2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PITX2 gene promoter:
         AP-1   c-Fos   c-Jun   MEF-2A   MyoD   FOXO1a   ATF-2   FOXO3b   FOXO3a   FOXD1   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for PITX2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for PITX2 


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q25   Ensembl cytogenetic band:  4q25   HGNC cytogenetic band: 4q25

PITX2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PITX2 gene location

GeneLoc gene densities for chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M107270:  view genomic region     (about GC identifiers)

Start:
107,270,120 bp from pter
End:
107,290,046 bp from pter
Size:
19,927 bases
Orientation:
minus strand

1 alternative location:
Chr4- 111,538,579-111,563,279     
RefSeq DNA sequence:
NC_000004.11  NT_016354.19  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: PITX2_HUMAN, Q99697 (See protein sequence)
Recommended Name: Pituitary homeobox 2  
Size: 317 amino acids; 35370 Da
Subcellular location: Nucleus
PDB structures from and Proteopedia :
1YZ8 (3D)    
Secondary accessions: B2RA02 B3KXS0 O60578 O60579 O60580 Q3KQX9 Q9BY17
Alternative splicing: 3 isoforms:  Q99697-1   Q99697-2   Q99697-3   

Explore the universe of human proteins at neXtProt for PITX2: NX_Q99697 

REFSEQ proteins (3 alternative transcripts): 
NP_000316.2  NP_700475.1  NP_700476.1  


ENSEMBL proteins: 
ENSP00000378097 ENSP00000347192 ENSP00000304169 ENSP00000347004 ENSP00000378095 ENSP00000421454 
ENSP00000424142 


Human Recombinant Proteins 
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
OriGene Protein Over-expression Lysate (see all 3): PITX2
GenScript Custom Purified and Recombinant Proteins Services for PITX2 
Novus Biologicals Proteins for PITX2
Novus Biologicals Lysates for PITX2
Browse Sino Biological Recombinant Proteins
Browse ProSpec Recombinant Proteins

2 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005634 nucleus IEA--
GO:0005667 transcription factor complex IDA15385555
About this table

PITX2 for ontologies           About GeneDecksing



Antibodies for PITX2: 
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for PITX2
Browse R&D Systems for Antibodies
Browse OriGene Antibodies
GenScript Custom Superior Antibodies Services for PITX2 
Novus Biologicals Antibodies for PITX2
Browse antibodies at Epitomics

Assays for PITX2: 
Browse Kits and Assays available from Millipore
Browse ELISAs at Sigma-Aldrich
OriGene Custom Immunoassay Development 
Browse OriGene Fluorogenic Cell Assay Kits 
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for PITX2 
Browse Enzo Life Sciences for kits & assays
Uscn ELISAs and CLIAs for PITX2 


(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PITX2 for domains           About GeneDecksing

5/6 InterPro domains/families (see all 6):
 IPR003654 Homeo_OAR
 IPR016233 Homeobox_Pitx/unc30
 IPR012287 Homeodomain-rel
 IPR001356 Homeobox
 IPR017970 Homeobox_CS

Graphical View of Domain Structure for InterPro Entry Q99697

ProtoNet protein and cluster: Q99697

1 Blocks protein family: IPB003654 Paired-like homeodomain protein

UniProtKB/Swiss-Prot: PITX2_HUMAN, Q99697
Similarity: Belongs to the paired homeobox family. Bicoid subfamily
Similarity: Contains 1 homeobox DNA-binding domain


(According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

UniProtKB/Swiss-Prot: PITX2_HUMAN, Q99697
Function: May play an important role in development and maintenance of anterior structures. Isoform PTX2C is involved
in left-right asymmetry the developing embryo (By similarity)

Inhib.
RNA:
    
Browse for Gene Knock-down Tools from Millipore
Browse Nano Scale siRNA at Sigma-Aldrich
Sigma-Aldrich esiRNA and siRNA for PITX2
Sigma-Aldrich shRNA for PITX2
OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): PITX2
OriGene shRNA RFP (see all 3): PITX2
OriGene basic RS shRNA (see all 3): PITX2
OriGene siRNA (see all 3): PITX2
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PITX2 
miRNA:Sigma-Aldrich microRNA Mimics for PITX2
Browse microRNA target validation systems at Sigma-Aldrich 
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PITX2 
7 SABiosciences Assays for microRNAs that regulate PITX2:
hsa-miR-140-5p hsa-miR-548a-3p hsa-miR-489 hsa-miR-374b hsa-miR-220c hsa-miR-548e hsa-miR-374a

Gene
Editing:
Browse CompoZr Knockout ZFN at Sigma-Aldrich 

Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
Browse iPSC Reprogramming Factors at Sigma-Aldrich
OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): PITX2
OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): PITX2
OriGene untagged cDNA clones in CMV expression vector (see all 3): PITX2
OriGene 3'-UTR clone: PITX2 
Browse MicroRNA Expression Plasmids 
GenScript cDNA clones with any tag delivered in your preferred vector (see all 2): PITX2 
Browse Sino Biological Human cDNA Clones

Cell
Lines:
  
GenScript Custom overexpressing Cell Line Services for PITX2 

Genatlas biochemistry entry for PITX2:
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

5/7 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 7):

GO IDQualified GO termEvidencePubMed IDs
GO:0003677 DNA binding ----
GO:0003682 chromatin binding ----
GO:0003700 sequence-specific DNA binding transcription factor activity IDA15385555
GO:0005515 protein binding IPI16449236
GO:0008134 transcription factor binding IPI16449236
About this table

PITX2 for ontologies           About GeneDecksing

Animal Models: 15/22 MGI mutant phenotypes (inferred from 13 alleles(MGI details for Pitx2) (see all 22):

cardiovascular systemcellularcraniofacialdigestive/alimentaryembryogenesis
endocrine/exocrine glandgrowth/sizehematopoietic systemhomeostasis/metabolismimmune system
lethality-postnatallethality-prenatal/perinatallimbs/digits/tailliver/biliary systemmuscle

PITX2 for phenotypes           About GeneDecksing


(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section


PITX2 for pathways           About GeneDecksing

2 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  PITX2
    TGF-β Signaling
BMP signaling pathway

1 Kegg Pathway  (Kegg details for PITX2):
    hsa04350 TGF-beta signaling pathway

    SABiosciences Pathway-Focused PCR Arrays including PITX2: PAHS-043A PAHS-083A 

    Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for PITX2
    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PITX2

5/35 Interacting proteins for PITX2 (ENSP000003041693 Q996972) via UniProtKB, MINT, and/or STRING (see all 35)
InteractantInteraction Details
GeneCardExternal ID(s)
CTNNB1P352222STRING: ENSP00000344456 MINT-6823877
YBX1P678092MINT-6823857 MINT-6823877 MINT-6823902
HNRNPKP619782MINT-6823857 MINT-6823877
HNRNPUQ008392MINT-6823857 MINT-6823877
NCLP193382MINT-6823857 MINT-6823877
About this table

5/29 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 29):

GO IDQualified GO termEvidencePubMed IDs
GO:0001569 patterning of blood vessels ----
GO:0001570 vasculogenesis ----
GO:0001701 in utero embryonic development ----
GO:0002074 extraocular skeletal muscle development ----
GO:0003350 pulmonary myocardium development ----
About this table

PITX2 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

PITX2 for compounds           About GeneDecksing

Browse Small Molecules at Sigma-Aldrich
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PITX2
10/26 Novoseek chemical compound relationships for PITX2 gene (see all 26)
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
gtp 73.1 29 9371764 (2), 10840031 (1), 16735989 (1), 19513240 (1) (see all 24)
ptx1 73 7 10859489 (4), 10372733 (3)
gdp 60.1 6 19820068 (2), 12598904 (1), 10391901 (1), 11771419 (1) (see all 5)
phosphatidylinositol-3,4,5-trisphosphate 46.9 3 11904384 (1), 15324308 (1), 10702285 (1)
sterigmatocystin 40.5 1 14668367 (1)
guanosine 34.3 5 10517644 (1), 10083744 (1), 11387333 (1), 9641915 (1) (see all 5)
damgo 24.7 2 17634133 (1), 20002516 (1)
brimonidine 20 1 11520900 (1)
carbachol 19.5 2 14630933 (1), 9874691 (1)
morphine 13.2 8 19630721 (2), 17634133 (2), 15734717 (1), 12604710 (1)
About this table

1 PharmGKB drug compound relationship for PITX2 gene
Drug compound PharmGKB Relations PubMed IDs for articles supporting these relationships
Beta adrenergic antagonistsFA  14607243
About this table



(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib.
RNA:
     
Browse for Gene Knock-down Tools from Millipore
Browse Nano Scale siRNA at Sigma-Aldrich
Sigma-Aldrich esiRNA and siRNA for PITX2
Sigma-Aldrich shRNA for PITX2
OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): PITX2
OriGene shRNA RFP (see all 3): PITX2
OriGene basic RS shRNA (see all 3): PITX2
OriGene siRNA (see all 3): PITX2
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PITX2 
miRNA: Sigma-Aldrich microRNA Mimics for PITX2
Browse microRNA target validation systems at Sigma-Aldrich 
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PITX2 
7 SABiosciences Assays for microRNAs that regulate PITX2:
hsa-miR-140-5p hsa-miR-548a-3p hsa-miR-489 hsa-miR-374b hsa-miR-220c hsa-miR-548e hsa-miR-374a
Clones: Sigma-Aldrich FLAG tag genes for PITX2
OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): PITX2
OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): PITX2
OriGene untagged cDNA clones in CMV expression vector (see all 3): PITX2
OriGene 3'-UTR Clone: PITX2 
Browse OriGene MicroRNA Expression Plasmids 
GenScript cDNA clones with any tag delivered in your preferred vector (see all 2): PITX2 
Primers: OriGene genome-wide validated SYBR primer pairs: PITX2
Browse OriGene validated miRNA SYBR primer pairs 
SABiosciences RT2 qPCR Primer Assay for PITX2: PPH02783A

REFSEQ mRNAs for PITX2 gene (3 alternative transcripts): 

NM_000325.5  NM_153426.1  NM_153427.1  

Additional cDNA sequence: 

AF048720.1 AF048721.1 AF048722.1 AK127829.1 AK291591.1 AK313987.1 BC013998.2 BC106010.1 
CR597942.1 CR602984.1 CR604884.1 CR605855.1 CR610480.1 CR623307.1 U69961.1 

10 DOTS entries:

DT.312486  DT.100781498  DT.100781496  DT.121275288  DT.100829326  DT.100773493  DT.121275286  DT.100701502 
DT.121275305  DT.75180456 

24/107 AceView cDNA sequences (see all 107):

BM888456 BX341665 NM_153427 AK127829 BP372081 NM_000325 CD677642 CR604884 
BX280659 BE464010 BX344572 CR597942 CD678623 BQ575039 BU728060 AI203538 
BC013998 BE890184 CR605855 AA700457 BM689084 NM_153426 CD678897 CR623307 

highest scoring ESTs for PITX2:

AF048720 AF048721 AF048722 AK127829 BE890184 BF204260 BG620204 BX380370 U69961 AA314048 

Unigene Cluster for PITX2:

Paired-like homeodomain 2
Hs.643588  [show with all ESTs]
Unigene Representative Sequence: AK127829


GeneLoc Exon Structure

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

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

About this scheme

ECgene alternative splicing isoforms for PITX2
7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000394598 ENST00000355080 ENST00000306732(uc003iac.2 uc003iag.1)
ENST00000354925(uc003iad.2 uc003iae.2 uc010iml.2 uc003iaf.2)
ENST00000394595 ENST00000511837 ENST00000511990

(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

PITX2 expression in normal and diseased human tissues

1  / 2  / 3

3 probe-sets matching PITX2 gene

Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
41014_s_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 AF048722 0.80 1.00 0.91 1
207558_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000325 0.60 1.00 0.82 1
207558_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
About this table

PITX2 for expression           About GeneDecksing

Data from Genenote  (Publications) and GNF BioGPS
    About these images
PITX2 gene expression
PITX2 gene electronic northern expression
PITX2 gene sage expression
About these images

CGAP SAGE TAG: GGAGTAAAAT

SOURCE GeneReport for Unigene cluster: Hs.643588

Expression variation in blood from EXPOLDB for PITX2

Primers: OriGene genome-wide validated SYBR primer pairs: PITX2
Browse OriGene validated miRNA SYBR primer pairs 
SABiosciences RT2 qPCR Primer Assay for PITX2: PPH02783A
    SABiosciences Expression via Pathway-Focused PCR Arrays including PITX2: PAHS-043A PAHS-083A 


(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for PITX2 gene from 5/12 species (see all 12)
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
PITX21   -- paired-like homeodomain 2 92.39(n)
97.84(a)
487902  XM_846277.1  XP_851370.1 
chimpanzee
(Pan troglodytes)
PITX21   -- paired-like homeodomain 2 99.59(n)
100(a)
461438  XM_001141234.1  XP_001141234.1 
cow
(Bos taurus)
PITX21   -- paired-like homeodomain 2 92.49(n)
98.77(a)
506721  XM_583206.3  XP_583206.1 
rat
(Rattus norvegicus)
Pitx21   -- paired-like homeodomain 2 92.32(n)
99.61(a)
54284  NM_019334.1  NP_062207.1 
mouse
(Mus musculus)
Pitx21 , 5 3 (57.84 cM)5
paired-like homeodomain transcription factor 21, 5 91.46(n)1
97.84(a)1
187411  NM_001042502.11  NP_001035967.11 
 AB0063205  AB0063215  (see all 20)
About this table        Species with no ortholog for PITX2

ENSEMBL Gene Tree for PITX2 (if available)

(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
Paralogs for PITX2 gene
VSX22  PITX12  PITX32  ARX2  VSX12  DRGX2  

PITX2 for paralogs           About GeneDecksing



(SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

10/201 NCBI SNPs in PITX2 are shown (see all 201)
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidChr 4 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
----------
rs9765681,2
C,F,A,111550721(-) GTGCAA/CAGACT 2 -- int115Minor allele frequency- C:0.47NS EA NA WA 824
rs9949781,2
C,F,A,111552398(-) TGATCG/ATTTGT 2 -- int112Minor allele frequency- A:0.45NS EA NA WA 638
rs10518871,2
--111542415(-) TCCAGC/GAGCTG 6 Q E mis1 ref1 ese30--------
rs10518881,2
--111539350(-) TTCGGC/GTACGC 6 G ref1 syn1 ese30--------
rs10518891,2
--111539257(-) GGATCC/GTAGGA 3 -- ut31 ese30--------
rs14488201,2
C,111551444(-) CCACAG/TCCTGC 2 -- int15Minor allele frequency- T:0.28NA EA WA 214
rs15307171,2
--111554003(-) CGCTTC/TCCCGA 2 -- int11Minor allele frequency- T:0.00MN 184
rs19471871,2
C,F,A,111545497(-) AATTTG/ACTTGG 3 -- ng51 int110Minor allele frequency- A:0.36NS EA NA WA 632
rs19823611,2
C,F,A,111560423(-) AAAAGA/GGAGGA 2 -- ng51 trp314Minor allele frequency- G:0.44NS EA NA WA 2108
rs22769661,2
C,F,111554194(-) GCTTCT/CTACAG 2 -- int11Minor allele frequency- C:0.08--266
About this table

HapMap Linkage Disequilibrium images for PITX2 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for PITX2
     2 CNVs: 92311 92312

QIAGEN SeqTarget long-range PCR primers for resequencing PITX2 

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PITX2 for disorders           About GeneDecksing

OMIM: 601542   disorders: 180500  137600  180550  604229  

UniProtKB/Swiss-Prot: PITX2_HUMAN, Q99697

  • Defects in PITX2 are the cause of Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]; also known as Rieger
  • syndrome type 1. RIEG1 is an autosomal dominant defect characterized by hypodontia (partial anodontia), anal stenosis,
    hypertelorism, mental deficiency, agenesis of the facial bones, with malformation of the anterior chamber of the eye
  • Defects in PITX2 are the cause of iridogoniodysgenesis type 2 (IRID2) [MIM:137600]; also known as
  • iridogoniodysgenesis syndrome 2 (IGDS2). It is an autosomal dominant inherited disease
  • Defects in PITX2 are a cause of Peters anomaly [MIM:604229]. It is a congenital defect of the anterior chamber
  • of the eye
  • Defects in PITX2 are associated with ring dermoid of cornea (RDC) [MIM:180550]. RDC is an autosomal dominantly
  • inherited syndrome characterized by bilateral annular limbal dermoids with corneal and conjunctival extension

    10/21 Novoseek disease relationships for PITX2 gene (see all 21)

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rieger syndrome 95.2 40 11821690 (3), 14630904 (3), 11284764 (2), 14991915 (2) (see all 27)
    rieg 94.2 39 9618168 (6), 10051017 (3), 10420192 (2), 9347917 (2) (see all 15)
    iridogoniodysgenesis syndrome 88.8 2 9618168 (1), 10937553 (1)
    anomaly peters 78.2 5 10051017 (3), 16735991 (1), 18498376 (1)
    hypoplasia 59.3 7 15761027 (2), 18331556 (1), 10537763 (1), 9328475 (1) (see all 6)
    glaucoma 57.8 20 17197537 (5), 17167399 (3), 11880716 (1), 19509472 (1) (see all 11)
    congenital malformation 53.5 8 16449236 (2), 11487566 (1), 10937553 (1), 14985297 (1) (see all 7)
    hypodontia 50.4 1 14630904 (1)
    developmental disabilities 24.3 1 10958652 (1)
    heart defects congenital 13.8 1 18697220 (1)
    About this table

    GeneTests: PITX2
    Anophthalmia/Microphthalmia

    Human Gene Mutation Database (HGMD): PITX2
    Genetic Association Database (GAD): PITX2
    Human Genome Epidemiology (HuGE) Navigator: PITX2 (9 documents)

    Export disorders and mutations for PITX2 gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/313 PubMed articles for PITX2 gene, integrated from 7 sources (see all 313):
    (articles sorted by number of sources associating them with PITX2)
    1. Identification and characterization of the ARP1 gene, a target for the human acute leukemia ALL1 gene. (PubMed id 9539779)1, 2, 3, 7 Arakawa H.... Croce C.M. (1998)
    2. A mutation in the RIEG1 gene associated with Peters' anomaly. (PubMed id 10051017)1, 2, 4, 7 Doward W....Black G.C. (1999)
    3. Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome. (PubMed id 11487566)1, 2, 7 Priston M.... Heon E. (2001)
    4. Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome. (PubMed id 9618168)1, 2, 7 Kulak S.C.... Walter M.A. (1998)
    5. Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations. (PubMed id 16936096)1, 2, 7 Weisschuh N....Gramer E. (2006)
    6. Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations. (PubMed id 10937553)2, 4, 7 Perveen R.... Black G.C.M. (2000)
    7. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. (PubMed id 11774072)1, 4, 7 Vincent A.L.... Heon E. (2002)
    8. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. (PubMed id 8944018)1, 2, 7 Semina E.V.... Murray J.C. (1996)
    9. Four novel mutations in the PITX2 gene in patients with Axenfeld- Rieger syndrome. (PubMed id 12381896)1, 2, 7 Phillips J.C. (2002)
    10. Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. (PubMed id 9437321)1, 2, 7 Alward W.L.M.... Murray J.C. (1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5308 HGNC: 9005 AceView: PITX2 Ensembl:ENSG00000164093 euGenes: HUgn5308
    ECgene: PITX2 Kegg: 5308 H-InvDB: PITX2

    (According to HUGE)
    About This Section
      --

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    ATLAS Chromosomes in Cancer entry for PITX2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PITX2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    Patent Information for PITX2 gene:
    Search GeneIP for patents involving PITX2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
    Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or Enzo Life Sciences)
    About This Section

     Millipore Custom Antibody & Bulk Services
     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services

     Predesigned and custom siRNAs for PITX2 Antibodies for PITX2
     Super-pooled esiRNAs for PITX2 Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for PITX2 microRNA Mimics for PITX2
     "Your Favorite Gene" Pathways and Molecular Interaction Networks Browse Nano Scale siRNA at Sigma-Aldrich
     Browse iPSC Reprogramming Factors at Sigma-Aldrich Browse small molecules at Sigma-Aldrich
     FLAG tag genes for PITX2 Browse ELISAs at Sigma-Aldrich
     Browse microRNA Target Validation Systems at Sigma-Aldrich Browse CompoZr Knockout ZFN at Sigma-Aldrich
    feedback
      
     Antibodies   Cell Culture Products  
     ELISAs   Flow Cytometry Kits  
     Primer Pairs   Kinase Activity Assays/Reagents  
     ELISpot Kits/Development Modules   TFB/Immunoprecipitation Assays  
     Apoptosis Detection Kits/Reagents   Protease Activity Assays/Reagents  
     DNA Damage/Repair Kits/Reagents   Multiplex/Array Assay Kits/Reagents  
     Cell Selection/Detection Kits/Reagents   ELISA/Assay Development Kits/Reagents  
     Phosphatase Activity Assays/Reagents   Recombinant/Natural Proteins  
     Tagged/untagged cDNA clones
     Validated SYBR primer pairs
     Purified proteins from HEK293T cells
     Lysates
     Western blot validated antibodies
     shRNA in GFP-retroviral vector
     siRNA
     Custom Immunoassay Development
     Fluorogenic Cell Assay Kits
     miRNA Primers for qPCR Assays
     3' UTR Clones for miRNA Target Studies
     miRNA Expression Plasmids

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PITX2
     SeqTarget long-range PCR primers for resequencing PITX2
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for PITX2
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PITX2
     GenScript Custom Purified and Recombinant Proteins Services for PITX2 GenScript cDNA clones with any tag delivered in your preferred vector for PITX2
     GenScript Custom Assay Services for PITX2 GenScript Custom Superior Antibodies Services for PITX2
     GenScript Custom overexpressing Cell Line Services for PITX2 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in PITX2 promoter
     Search Chromatin IP Primers for PITX2
     RT2 qPCR Primer Assay for PITX2
     GNC Network for PITX2
     Assays for microRNAs that regulate PITX2
     SABiosciences PCR Arrays including PITX2
     Search Tocris compounds for PITX2
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     Antibodies for PITX2
     Proteins for PITX2
     Lysates for PITX2
     Browse antibodies at Epitomics
     Browse ProSpec Recombinant Proteins

     ELISAs and CLIAs for PITX2
           

    GeneCards Homepage - Last full update: 31 Dec 2010 - Incremental updates: 9 Jan 2011 , 10 Jan 2011

    View Random Gene

    Category
    GIFtS Group
    The GeneCards human gene database gene index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    PITX2 gene at Home site.
    hostname: www-ab3 db genecards_305 index build: 81e solr: 1.4