Recombinant Human Visual system homeobox 2 (VSX2)

Code CSB-YP025939HU
MSDS
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Source Yeast
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Code CSB-EP025939HU
MSDS
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Source E.coli
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Code CSB-EP025939HU-B
MSDS
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Source E.coli
Conjugate Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
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Code CSB-BP025939HU
MSDS
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Source Baculovirus
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Code CSB-MP025939HU
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
VSX2
Uniprot No.
Alternative Names
C elegans ceh 10 homeo domain containing homolog; Ceh 10 homeo domain containing homolog (C. elegans); Ceh 10 homeo domain containing homolog; Ceh 10 homeodomain containing homolog; Ceh 10 homeodomain containing homolog (C. elegans); Ceh-10 homeodomain-containing homolog; Ceh10 homeo domain containing homolog; Ceh10 homeodomain containing homolog; CHX 10; Homeobox protein CHX 10; Homeobox protein CHX10; HOX 10; HOX10; MCOP 2; MCOP2; MCOPCB 3; MCOPCB3; RET 1; RET1; Visual system homeobox 2; Vsx 2; Vsx2; VSX2_HUMAN
Species
Homo sapiens (Human)
Expression Region
1-361
Target Protein Sequence
MTGKAGEALS KPKSETVAKS TSGGAPARCT GFGIQEILGL NKEPPSSHPR AALDGLAPGH LLAARSVLSP AGVGGMGLLG PGGLPGFYTQ PTFLEVLSDP QSVHLQPLGR ASGPLDTSQT ASSDSEDVSS SDRKMSKSAL NQTKKRKKRR HRTIFTSYQL EELEKAFNEA HYPDVYAREM LAMKTELPED RIQVWFQNRR AKWRKREKCW GRSSVMAEYG LYGAMVRHSI PLPESILKSA KDGIMDSCAP WLLGMHKKSL EAAAESGRKP EGERQALPKL DKMEQDERGP DAQAAISQEE LRENSIAVLR AKAQEHSTKV LGTVSGPDSL ARSTEKPEEE EAMDEDRPAE RLSPPQLEDM A
Protein Length
Full length protein
Tag Info
Tag type will be determined during the manufacturing process.
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Form
Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer before Lyophilization
Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution
We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time
Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet
Please contact us to get it.

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Target Background

Function
Acts as a transcriptional regulator through binding to DNA at the consensus sequence 5'-[TC]TAATT[AG][AG]-3' upstream of gene promoters. Plays a significant role in the specification and morphogenesis of the sensory retina. Mediates differentiation of V2a interneurons by repression of motor neuron gene transcription, via competitively binding to response elements that are activated by the ISL1-LHX3 complex, such as VSX1. Acts as a positive transcriptional regulator of NXNL1; regulation is significantly increased in synergy with VSX1. Acts as a negative transcriptional regulator of MITF. Represses SAG transcription by competitive inhibition of ISL1-LHX3 response elements. Binds to the photoreceptor conserved element-1 (PCE-1) in the promoter of rod photoreceptor arrestin SAG and acts as a transcriptional repressor. Plays a significant role in the specification and morphogenesis of the sensory retina. Involved in the development of retinal ganglion cells (RGCs) which leads to release of SHH by RGCs, promoting Hedgehog signaling and subsequent proliferation of retinal progenitor cells. Participates in the development of the cells of the inner nuclear layer, by promoting postnatal differentiation of bipolar cells with a comparable inhibition of rod cell differentiation. May play a role in the maintenance of neural retina identity during development by regulation of canonical Wnt genes and CTNNB1 localization, suggesting a role in the regulation of canonical Wnt signaling.
Gene References into Functions
  1. In conclusion, targeted sequencing for SOX2 and VSX2 identified the etiology in two patients (7.4%) and this is the first report of SOX2 mutation from Egypt. PMID: 28121235
  2. Regulation of WNT signaling by VSX2 during optic vesicle patterning in human induced pluripotent stem cells has been described. PMID: 27301076
  3. marker for neurogenic potential in cultured retinal progenitor cells PMID: 26292211
  4. The phenotype of this girl is unique and suggests a normal regulatory role for VSX2 in iris, zonule, and cone-rod development. PMID: 24001013
  5. The role of visual system homeobox 2 (VSX2), using human induced pluripotent stem cells derived from a patient with microphthalmia caused by an R200Q mutation in the VSX2 homeodomain region, is reported. PMID: 24532057
  6. Mutations in VSX2 represent an important cause of autosomal recessive microphthalmia in consanguineous pedigrees. PMID: 21976963
  7. study identified 3 recessive VSX2 mutations associated with isolated congenital anophthalmia or severe microphthalmia; also identified a novel inner retinal dystrophy in 2 carrier parents suggesting a semidominant effect for this particular VSX2 mutation PMID: 20414678
  8. major differentiation factors of the NK-cell lineage, including HOXA9, HOXA10 and ID2, were (de)regulated via PRC2 which therefore contributes to T-cell leukemogenesis. PMID: 20565746
  9. Observational study of gene-disease association. (HuGE Navigator) PMID: 20494911
  10. CHX10 regulates RdCVF promoter activity in the inner retina. PMID: 19843539
  11. CHX10 and VSX1 may control retinal bipolar cell specification or differentiation by repressing genes required for the development of other cell types PMID: 15647262
  12. CHX10 may target specific motifs to inhibit rod photoreceptor gene expression in bipolar cells PMID: 16236706
  13. CHX10 defects in microphthalmia/anophthalmia patiients of midle-eastern origin are because od shared ancestry and consanguinity. PMID: 17661825
  14. These results support the role of SOX2 in ocular development. Loss of SOX2 function results in severe eye malformation. CHX10 was not implicated with microphthalmia/anophthalmia in our patient cohort. PMID: 18385794
  15. Mutations in the transgenic Chx10 homeobox gene cause reduced proliferation of retinal progenitor cells during development; lack of Chx10 leads to maintenance of a dormant neural progenitor population in the adult central neural retina. PMID: 18514541
  16. These results do not support a significant role for CHX10 or MFRP mutations in primary angle closure glaucoma. PMID: 18648522
  17. Data support the hypothesis that exogenous pDNA binds to cytoplasmic shuttle proteins NM23-H2 and Chx10, and is then translocated to the nucleus using the minimal import machinery PMID: 19638341
  18. Observational study of gene-disease association. (HuGE Navigator) PMID: 20057906

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Involvement in disease
Microphthalmia, isolated, 2 (MCOP2); Microphthalmia with cataracts and iris abnormalities (MCOPCTI); Microphthalmia, isolated, with coloboma, 3 (MCOPCB3)
Subcellular Location
Nucleus.
Protein Families
Paired homeobox family
Tissue Specificity
Abundantly expressed in retinal neuroblasts during eye development and in the inner nuclear layer of the adult retina. Within this layer, expression is stronger in the outer margin where bipolar cells predominate.
Database Links

HGNC: 1975

OMIM: 142993

KEGG: hsa:338917

STRING: 9606.ENSP00000261980

UniGene: Hs.449771

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