Recombinant Human Homeobox Protein Otx2 (OTX2) Protein (His-SUMO)

Name: Recombinant Human Homeobox Protein Otx2 (OTX2) Protein (His-SUMO)
Brand: Beta LifeScience
SKU: BLC-09946P
Availability: InStock

Greater than 90% as determined by SDS-PAGE.

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Product Overview

Description	Recombinant Human Homeobox Protein Otx2 (OTX2) Protein (His-SUMO) is produced by our E.coli expression system. This is a full length protein.
Purity	Greater than 90% as determined by SDS-PAGE.
Uniprotkb	P32243
Target Symbol	OTX2
Synonyms	CPHD6; Homeobox protein OTX2; MCOPS 5; MCOPS5; MGC45000; Orthodenticle 2; Orthodenticle homeobox 2; Orthodenticle homolog 2 (Drosophila); Orthodenticle homolog 2; Orthodenticle2; Otx 2; otx2; OTX2_HUMAN
Species	Homo sapiens (Human)
Expression System	E.coli
Tag	N-6His-SUMO
Target Protein Sequence	MMSYLKQPPYAVNGLSLTTSGMDLLHPSVGYPGPWASCPAATPRKQRRERTTFTRAQLDVLEALFAKTRYPDIFMREEVALKINLPESRVQVWFKNRRAKCRQQQQQQQNGGQNKVRPAKKKTSPAREVSSESGTSGQFTPPSSTSVPTIASSSAPVSIWSPASISPLSDPLSTSSSCMQRSYPMTYTQASGYSQGYAGSTSYFGGMDCGSYLTPMHHQLPGPGATLSPMGTNAVTSHLNQSPASLSTQGYGASSLGFNSTTDCLDYKDQTASWKLNFNADCLDYKDQTSSWKFQVL
Expression Range	1-297aa
Protein Length	Full Length of Isoform 2
Mol. Weight	48.4kDa
Research Area	Epigenetics And Nuclear Signaling
Form	Liquid or Lyophilized powder
Buffer	Liquid form: default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution	Briefly centrifuged the vial prior to opening to bring the contents to the bottom. Reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL. It is recommended to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. The default final concentration of glycerol is 50%.
Storage	1. Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. 2. Avoid repeated freeze-thaw cycles. 3. Store working aliquots at 4°C for up to one week. 4. In general, protein in liquid form is stable for up to 6 months at -20°C/-80°C. Protein in lyophilized powder form is stable for up to 12 months at -20°C/-80°C.
Notes	Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Target Details

Target Function	Transcription factor probably involved in the development of the brain and the sense organs. Can bind to the bicoid/BCD target sequence (BTS): 5'-TCTAATCCC-3'.
Subcellular Location	Nucleus.
Protein Families	Paired homeobox family, Bicoid subfamily
Database References	HGNC: 8522 OMIM: 600037 KEGG: hsa:5015 STRING: 9606.ENSP00000343819 UniGene: Hs.288655
Associated Diseases	Microphthalmia, syndromic, 5 (MCOPS5); Pituitary hormone deficiency, combined, 6 (CPHD6); Retinal dystrophy, early-onset, with or without pituitary dysfunction (RDEOP)

Gene Functions References

This second report of maculopathy associated with a heterozygous mutation in OTX2 confirms that mutations in OTX2 should be considered in the differential diagnosis of atypical hereditary maculopathy, with or without rod-cone dystrophy. PMID: 29204067
OTX2 acts as a pioneer factor and, in cooperation with NEUROD1, controls the group 3 medulloblastoma active enhancer landscape. PMID: 28213356
Syndromic microphthalmia due to mutations in OTX2 can present with significant intrafamilial phenotypic variability. PMID: 28388256
We report a rare case of inherited 14q22.3 deletion in a very large family presenting with variable features of eye abnormalities (microphthalmia, anophthalmia and peripapillary pigmentation), pituitary anomalies, and learning difficulties. PMID: 26860946
Our data refine the clinical spectrum associated with OTX2 mutations and suggests that OTX2 haploinsufficiency should be considered as a possible cause for isolated mandibular dysostosis. PMID: 27378064
One subgroup of atypical teratoid rhabdoid tumors was characterized by high expression of OTX2. PMID: 28025236
TNF-alpha, secreted from activated Monocytes, mediates the downregulation of OTX2 and essential retinal pigment epithelium genes. PMID: 27660103
OTX2 gene frameshift mutation is associated with microphthalmia, ectopic pituitary and growth hormone deficiency. PMID: 26974134
OTX2 mutations can cause ACTH deficiency in the neonatal period. Study also shows that OTX2 mutations are associated with agenesis of the Left Internal Carotid Artery. PMID: 27299576
A novel pathogenic variant in OTX2, c.651delC, p.(Thr218Hisfs*76) identified in a patient with syndromic bilateral anophthalmia . PMID: 26130484
demonstrated the role of OTX2 on TAp63 regulation necessary for the correct formation of macular neuroepithelium PMID: 26554466
A novel role for OTX2 in self-renewal and migration of human embryonic neural precursors and Medulloblastoma cells, is reported. PMID: 26398939
We showed that miR-410 directly regulates predicted target genes OTX2 and RPE65. PMID: 25351180
This epigenome-wide DNA methylation analysis in postmortem hippocampus and prefrontal cortex specimens confirmed OTX2 DNA methylation profiles in major depression PMID: 25571874
OTX2 overexpression is associated with medulloblastoma. PMID: 25198066
SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia PMID: 25542770
Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2. PMID: 25589041
OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium. PMID: 25293953
Endogenous OTX2 from a medulloblastoma cell line is O-GlcNAcylated at several sites. PMID: 24580054
a role for OTX2 dosage sensitivity in human craniofacial development PMID: 24816892
VEGF-A, Otx2 homeobox and p53 family genes are expressed in proliferative vitreoretinopathy PMID: 24227910
OTX2 gene duplication is associated with autosomal dominant oculoauriculovertebral syndrome. PMID: 23794319
This study showed that OTX2 sustains a bivalent-like state of OTX2-bound promoters in medulloblastoma by maintaining their H3K27me3 levels. PMID: 23179372
Otx2c is a novel alternative splicing variant of Otx2 gene and it is tightly regulated during the differentiation process demonstrating that it may have a potential role in embryonic stem cell maintenance and differentiation. PMID: 23566845
OTX2 functions via its homeobox domain as a suppressor of differentiation, and the loss of OTX2 expression is linked to the myogenesis in medullomyoblastoma. PMID: 22986744
This study reports a large family in which two cousins with micro/anophthalmia each gave birth to at least one child with otocephaly. The study subsequently identified in one unrelated otocephalic patient a sporadic OTX2 mutation. PMID: 22577225
We have identified a novel mutation of the OTX2 gene in a Han Chinese family featuring various anophthalmia and microphthalmia phenotypes. PMID: 22268617
A novel missense heterozygous OTX2 mutation acts as a dominant negative inhibitor of target gene expression in a patient with combined pituitary hormone deficiency (CPHD), pituitary malformation, and optic nerve hypoplasia. PMID: 22715480
MiR-206 regulates Otx2 expression in glioma and neuroblastoma cell lines. PMID: 22508046
silencing of OTX2 inhibited cell proliferation and resulted in a neuronal-like differentiation; downregulated genes were enriched for cycle and visual perception genes; upregulated genes were enriched for genes involved development and differentiation PMID: 21964830
There is no genotype-phenotype correlation and the severity of the disease varies not only by the specific OTX2 mutations but also among individuals harboring the same mutation, suggesting the involvement of multiple levels of regulation. PMID: 22783640
these findings emphasize the role of OTX2 in regulating the human TYR gene, with implications for inter-individual differences in melanin synthesis, retinal development, and function as well as susceptibility to retinal degeneration associated with aging. PMID: 22259223
Mutation analysis was performed after sequencing the entire coding regions of OTX2 and PRRX1 genes isolated from the proband and his parents. After thorough analysis, no DNA variations were detected PMID: 22198066
The OTX2 mutation in c.313C > T causing p.Gln105X and a premature stop codon is consistent with the loss of function mutations observed in A/M patients. PMID: 22204637
OTX2 directly induces a series of cell cycle genes but requires cooperating genes for an oncogenic acceleration of the cell cycle. PMID: 21047732
This high frequency of causal submicroscopic chromosomal aberrations in patients with congenital ocular malformation warrants implementation of array comparative genomic hybridization in the diagnostic work-up of these patients. PMID: 21353197
Four of the five OTX2-positive anophthalmia/microphthalmia patients in our study displayed additional systemic findings, including two novel features, Wolf-Parkinson-White syndrome and an anteriorly placed anus PMID: 20486942
Otx2 is required to specify neuron subtype in ventral tegmental area and confers resistance to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine-HCl (MPTP) poisoning. PMID: 21057506
SOX9, through interaction with microphthalmia-associated transcription factor (MITF) and OTX2, regulates BEST1 expression in the retinal pigment epithelium. PMID: 20530484
OTX2 overexpression protects dopaminergic neurons in ventral mesencephalic cultures from Parkinson's disease-relevant toxin, 1-methyl-4-phenylpyridinium, whereas OTX2 downregulation using short hairpin RNA increases their susceptibility. PMID: 20573704
The early expression of OTX2 in proliferative cell layers of the human fetal brain supports the concept that this homeobox gene is important in neuronal cell development and differentiation. PMID: 20354145
A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency. PMID: 20396904
OTX2 mutations are associated with variable pituitary phenotype, with no genotype-phenotype correlations, and that OTX2 can transactivate GNRH1 as well as HESX1 and POU1F1. PMID: 19965921
Our findings define OTX2 as an important oncogenic driver in medulloblastoma. PMID: 20028867
Data suggest that OTX2 may regulate retinal pigment epithelium (RPE)-specific target genes, such as DOPAchrome tautomerase (DCT), thereby maintaining the homeostasis of RPE. PMID: 12559959
OTX2 functions to specify the fate of neuroectoderm in various regions of the developing brain. This developmental role is consistent with the evidence suggesting that OTX2 is a medulloblastoma oncogene. PMID: 15705863
Gene expression analyses showed that OTX2 transcripts were present at high levels in 14 of 15 (93%) medulloblastomas with anaplastic histopathologic features. PMID: 15705891
Heterozygous mutations of OTX2 cause severe ocular malformations. PMID: 15846561
Molecular diagnostic of human mutant OTX2 proteins discriminates hypomorphic and loss of function mutations from other mutations that may not be relevant to ocular pathology PMID: 16607563
This review describes how cross regulation for PAX6, SOX2 and perhaps OTX2 has now been uncovered, pointing to the mechanisms that can fine-tune the expression of three such essential components in eye development. PMID: 16712695

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Proteins are sensitive to heat, and freeze-drying can preserve the activity of the majority of proteins. It improves protein stability, extends storage time, and reduces shipping costs. However, freeze-drying can also lead to the loss of the active portion of the protein and cause aggregation and denaturation issues. Nonetheless, these adverse effects can be minimized by incorporating protective agents such as stabilizers, additives, and excipients, and by carefully controlling various lyophilization conditions.

Commonly used protectant include saccharides, polyols, polymers, surfactants, some proteins and amino acids etc. We usually add 8% (mass ratio by volume) of trehalose and mannitol as lyoprotectant. Trehalose can significantly prevent the alter of the protein secondary structure, the extension and aggregation of proteins during freeze-drying process; mannitol is also a universal applied protectant and fillers, which can reduce the aggregation of certain proteins after lyophilization.

Our protein products do not contain carrier protein or other additives (such as bovine serum albumin (BSA), human serum albumin (HSA) and sucrose, etc., and when lyophilized with the solution with the lowest salt content, they often cannot form A white grid structure, but a small amount of protein is deposited in the tube during the freeze-drying process, forming a thin or invisible transparent protein layer.

Reminder: Before opening the tube cap, we recommend that you quickly centrifuge for 20-30 seconds in a small centrifuge, so that the protein attached to the tube cap or the tube wall can be aggregated at the bottom of the tube. Our quality control procedures ensure that each tube contains the correct amount of protein, and although sometimes you can't see the protein powder, the amount of protein in the tube is still very precise.

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