-Genomic Data for PITX2 Links
Protein
PITX2
UniPROBE Accession Number
UP00615
Species
Homo sapiens
Domain
Homeobox
Swiss-Prot
Q99697
Name and Synonyms
Name: pituitary homeobox 2.
Synonyms:ALL1-responsive protein ARP1, ARP1, Brx1, Homeobox protein PITX2, IDG2, IGDS, IGDS2, IHG2, IRID2, MGC111022, MGC20144, Otlx2, Paired-like homeodomain transcription factor 2, Pituitary homeobox 2, PTX2, RGS, RIEG, RIEG1, RIEG bicoid-related homeobox transcription factor, RS, Solurshin
IHOP
91050
Description
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]
NCBI RefSeq
NP_000316
PITX2 DNA binding domain
1   RRQRTHFTSQ QLQELEATFQ RNRYPDMSTR EEIAVWTNLT EARVRVWFKN
51  RRAKWRK
JASPAR
None Available
-PBM Motif Data for PITX2_REF_R1
PBM-Derived DNA Binding Site Motif (Seed-And-Wobble)
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PWM
Save
Top Kmer
GGGATTAA E.S. 0.497
TTAATCCC E.S. 0.497
Downloads
Download the zip of all PITX2_REF PBM files, or view the downloads directory for individual files. Please note that the files which include probe sequence data are protected by an academic research use license, which can be viewed here.
-PBM Motif Data for PITX2_REF_R2
PBM-Derived DNA Binding Site Motif (Seed-And-Wobble)
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PWM
Save
Top Kmer
CTAATCCC E.S. 0.497
GGGATTAG E.S. 0.497
Downloads
Download the zip of all PITX2_REF PBM files, or view the downloads directory for individual files. Please note that the files which include probe sequence data are protected by an academic research use license, which can be viewed here.
-PBM Motif Data for PITX2_L100Q_R1
PBM-Derived DNA Binding Site Motif (Seed-And-Wobble)
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PWM
Save
Top Kmer
GGGATTAA E.S. 0.497
TTAATCCC E.S. 0.497
Downloads
Download the zip of all PITX2_L100Q PBM files, or view the downloads directory for individual files. Please note that the files which include probe sequence data are protected by an academic research use license, which can be viewed here.
-PBM Motif Data for PITX2_L100Q_R2
PBM-Derived DNA Binding Site Motif (Seed-And-Wobble)
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PWM
Save
Top Kmer
A.GGATTA.T E.S. 0.496
A.TAATCC.T E.S. 0.496
Downloads
Download the zip of all PITX2_L100Q PBM files, or view the downloads directory for individual files. Please note that the files which include probe sequence data are protected by an academic research use license, which can be viewed here.
-PBM Motif Data for PITX2_R108H_R2
PBM-Derived DNA Binding Site Motif (Seed-And-Wobble)
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PWM
Save
Top Kmer
A.GGATTA.T E.S. 0.495
A.TAATCC.T E.S. 0.495
Downloads
Download the zip of all PITX2_R108H PBM files, or view the downloads directory for individual files. Please note that the files which include probe sequence data are protected by an academic research use license, which can be viewed here.
-PBM Motif Data for PITX2_R108H_R1
PBM-Derived DNA Binding Site Motif (Seed-And-Wobble)
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PWM
Save
Top Kmer
ATTAATCC E.S. 0.495
GGATTAAT E.S. 0.495
Downloads
Download the zip of all PITX2_R108H PBM files, or view the downloads directory for individual files. Please note that the files which include probe sequence data are protected by an academic research use license, which can be viewed here.
-PBM Motif Data for PITX2_R130W_R1
PBM-Derived DNA Binding Site Motif (Seed-And-Wobble)
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PWM
Save
Top Kmer
A.TAATTA.T E.S. 0.450
A.TAATTA.T E.S. 0.450
Downloads
Download the zip of all PITX2_R130W PBM files, or view the downloads directory for individual files. Please note that the files which include probe sequence data are protected by an academic research use license, which can be viewed here.
-PBM Motif Data for PITX2_T114P_R1
PBM-Derived DNA Binding Site Motif (Seed-And-Wobble)
Image Not Available. We apologize for the inconvenience.
PWM
Save
Top Kmer
GGGATTA..A E.S. 0.497
T..TAATCCC E.S. 0.497
Downloads
Download the zip of all PITX2_T114P PBM files, or view the downloads directory for individual files. Please note that the files which include probe sequence data are protected by an academic research use license, which can be viewed here.
Download Data for PITX2 (all alleles)
Downloads
Download the zip of all PITX2 PBM files, or view the downloads directory for individual files. Please note that the files which include probe sequence data are protected by an academic research use license, which can be viewed here.
-PITX2 Datasets
Clone Clone Type Last Modified Save View
PITX2_REF DNA binding domain only search save
PITX2_REF Insert Sequence
1   EDVGAEDPSK KKRQRRQRTH FTSQQLQELE ATFQRNRYPD MSTREEIAVW
51  TNLTEARVRV WFKNRRAKWR KRERNQQAEL CKNGFG


PITX2_L100Q DNA binding domain only search save
PITX2_L100Q Insert Sequence
1   EDVGAEDPSK KKRQRRQRTH FTSQQLQEQE ATFQRNRYPD MSTREEIAVW
51  TNLTEARVRV WFKNRRAKWR KRERNQQAEL CKNGFG


PITX2_R108H DNA binding domain only search save
PITX2_R108H Insert Sequence
1   EDVGAEDPSK KKRQRRQRTH FTSQQLQELE ATFQRNHYPD MSTREEIAVW
51  TNLTEARVRV WFKNRRAKWR KRERNQQAEL CKNGFG


PITX2_R130W DNA binding domain only search save
PITX2_R130W Insert Sequence
1   EDVGAEDPSK KKRQRRQRTH FTSQQLQELE ATFQRNRYPD MSTREEIAVW
51  TNLTEARVWV WFKNRRAKWR KRERNQQAEL CKNGFG


PITX2_T114P DNA binding domain only search save
PITX2_T114P Insert Sequence
1   EDVGAEDPSK KKRQRRQRTH FTSQQLQELE ATFQRNRYPD MSTREEIAVW
51  TNLTEARVRV WFKNRRAKWR KRERNQQAEL CKNGFG


References
Data are analyzed by array designs with AMADID #s 030236, 015681 in Barrera et al., Science 2016


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