Recombinant Human DNA-binding protein RFX2 (RFX2)

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Description

Structure and Functional Domains

RFX2 contains a winged helix DNA-binding domain (WH domain), a structural motif shared with other RFX family members (RFX1–5) . This domain enables RFX2 to bind DNA as a monomer or heterodimer with other RFX proteins . Its sequence reveals three distinct functional regions:

  • DNA-binding domain: A 91-amino-acid region with similarity to helix-loop-helix motifs .

  • Dimerization domain: Functionally independent of DNA binding, allowing RFX2 homodimers to bind two X-box motifs simultaneously .

  • Transactivation domain: Facilitates recruitment of coactivators for transcriptional activation .

Immune System Regulation

RFX2 is essential for MHC class II gene expression, which is critical for antigen presentation to T-cells . Defects in RFX2 binding correlate with congenital immunodeficiency (CID), where class II genes fail to activate . For example:

  • Mutations in RFX2 disrupt X-box binding in promoters of genes like HLA-DRA and HLA-DRB1 .

  • Antisense RNA targeting RFX2 inhibits IFN-γ-induced class II gene expression .

Ciliogenesis

RFX2 regulates multi-ciliated cell (MCC) development, controlling genes involved in:

  • Ciliary assembly: RFX2 targets intraflagellar transport (IFT) components (IFT88, IFT172) and axonemal dyneins .

  • Cell movement: RFX2 promotes apical surface expansion in nascent MCCs, ensuring ciliary function in airways and brain .

Spermatogenesis

RFX2 is indispensable for post-meiotic spermatid differentiation:

  • Flagellum biogenesis: RFX2 knockouts arrest spermatogenesis at the round spermatid stage, preventing flagellar elongation .

  • Apoptosis regulation: Loss of RFX2 triggers apoptosis in germ cells, as shown by TUNEL assays .

Gene Targets and Regulatory Mechanisms

RFX2 directly regulates over 1,000 genes across tissues, with binding peaks concentrated near transcription start sites (TSS) . Key targets include:

Gene CategoryExamplesFunction
Ciliary machineryIFT88, DYNC2H1IFT transport, axoneme structure
SpermatogenesisSPATA16, PRM3Sperm head shaping, chromatin packaging
MHC class IIHLA-DRA, HLA-DRB1Antigen presentation

Tissue Expression

RFX2 is highly expressed in:

  • Testis: Critical for spermatogenesis .

  • Brain: Enriched in cerebral cortex and hippocampus .

  • Multi-ciliated epithelia: Airway, reproductive tract, and ependymal cells .

Disease Associations

Mutations or dysregulation of RFX2 have been linked to:

DiseaseMechanism
Congenital immunodeficiencyImpaired MHC class II activation
CiliopathiesDefective ciliary assembly
Male infertilityArrested spermatogenesis

Experimental Tools

  • Knockout models: RFX2-deficient mice exhibit sterile males and MCC defects .

  • Antisense RNA: Inhibits class II gene induction in fibroblasts .

  • ChIP-Seq: Identifies RFX2-bound promoters (e.g., HLA-DRA, IFT88) .

Product Specs

Form
Lyophilized powder. We will ship the available format, but please note your preferred format when ordering, and we will try to accommodate your request.
Lead Time
Delivery times vary by purchase method and location. Please contact your local distributor for specific delivery information. All proteins are shipped with blue ice packs by default. For dry ice shipment, please contact us in advance as extra fees apply.
Notes
Avoid repeated freezing and thawing. Working aliquots can be stored at 4°C for up to one week.
Reconstitution
Briefly centrifuge the vial before opening. Reconstitute the protein in sterile deionized water to 0.1-1.0 mg/mL. We recommend adding 5-50% glycerol (final concentration) and aliquoting for long-term storage at -20°C/-80°C. Our default final glycerol concentration is 50%.
Shelf Life
Shelf life depends on storage conditions, buffer components, storage temperature, and protein stability. Liquid form typically lasts 6 months at -20°C/-80°C. Lyophilized form typically lasts 12 months at -20°C/-80°C.
Storage Condition
Store at -20°C/-80°C upon receipt. Aliquot for multiple uses. Avoid repeated freeze-thaw cycles.
Tag Info
The tag type will be determined during production. If you require a specific tag, please inform us, and we will prioritize its development.
Synonyms
DNA-binding protein RFX2; HLA class II regulatory factor RFX2; regulatory factor X 2 (influences HLA class II expression); Regulatory factor X 2; regulatory factor X2; RFX2; RFX2_HUMAN; trans acting regulatory factor 2
Buffer Before Lyophilization
Tris/PBS-based buffer, 6% Trehalose.
Datasheet
Please contact us to get it.
Expression Region
1-723
Protein Length
full length protein
Purity
>85% (SDS-PAGE)
Species
Homo sapiens (Human)
Target Names
RFX2
Target Protein Sequence
MQNSEGGADS PASVALRPSA AAPPVPASPQ RVLVQAASSN PKGAQMQPIS LPRVQQVPQQ VQPVQHVYPA QVQYVEGGDA VYTNGAIRTA YTYNPEPQMY APSSTASYFE APGGAQVTVA ASSPPAVPSH SMVGITMDVG GSPIVSSAGA YLIHGGMDST RHSLAHTSRS SPATLEMAIE NLQKSEGITS HKSGLLNSHL QWLLDNYETA EGVSLPRSSL YNHYLRHCQE HKLDPVNAAS FGKLIRSVFM GLRTRRLGTR GNSKYHYYGI RLKPDSPLNR LQEDTQYMAM RQQPMHQKPR YRPAQKTDSL GDSGSHSGLH STPEQTMAVQ SQHHQQYIDV SHVFPEFPAP DLGSFLLQDG VTLHDVKALQ LVYRRHCEAT VDVVMNLQFH YIEKLWLSFW NSKASSSDGP TSLPASDEDP EGAVLPKDKL ISLCQCDPIL RWMRSCDHIL YQALVEILIP DVLRPVPSTL TQAIRNFAKS LEGWLTNAMS DFPQQVIQTK VGVVSAFAQT LRRYTSLNHL AQAARAVLQN TSQINQMLSD LNRVDFANVQ EQASWVCQCE ESVVQRLEQD FKLTLQQQSS LDQWASWLDS VVTQVLKQHA GSPSFPKAAR QFLLKWSFYS SMVIRDLTLR SAASFGSFHL IRLLYDEYMF YLVEHRVAEA TGETPIAVMG EFNDLASLSL TLLDKDDMGD EQRGSEAGPD ARSLGEPLVK RERSDPNHSL QGI
Uniprot No.

Target Background

Function
Transcription factor RFX2 is a key regulator of spermatogenesis, controlling genes involved in the haploid phase, such as those for cilium assembly and function. It binds to the X-box DNA motif (5'-GTNRCC(0-3N)RGYAAC-3') on promoters and likely activates transcription of the testis-specific histone gene H1-6.
Gene References Into Functions
1. RFX2 regulates multiple gene expression programs in multi-ciliated epithelial cells, controlling cell movement, ciliogenesis, and cilia function. (PMID: 24424412) 2. RFX proteins bind to a conserved X-box in the ALMS1 promoter and regulate ALMS1 transcription during growth arrest. (PMID: 20381594) 3. RFX transcription factors modulate Ras signaling in epithelial cells. (PMID: 15024578)
Database Links

HGNC: 9983

OMIM: 142765

KEGG: hsa:5990

STRING: 9606.ENSP00000306335

UniGene: Hs.465709

Protein Families
RFX family
Subcellular Location
Nucleus. Cytoplasm.

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