Human Recombinant CIB2 protein, His Tag (V2LY-0526-LY3140)

Name: Human Recombinant CIB2 protein, His Tag
SKU: V2LY-0526-LY3140
Rating: 5 (1 reviews)

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Datasheet

SDS

Request for COA

Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Expressed Host

E. coli

Protein Species

Human

Tag

His Tag

Protein Construction

This product is Human Recombinant CIB2 protein, His Tag consist of Amino Acid: 1-187 and predicts a molecular mass of 23.1 kDa.

Molecule Mass

23.1 kDa

Sequence

Amino Acid: 1-187

Species

Human

Formulations & Storage [For reference only, actual COA shall prevail!]

Purity

≥90% as determined by SDS-PAGE

Endotoxin

Please contact us for more information.

Format

Liquid

Buffer

Tris, NaCl

Preservative

None

Storage

Samples are stable for up to twelve months from date of receipt at -20°C to -80°C. Store it under sterile conditions at -20°C to -80°C. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.

More Infomation

Target

Full Name

Calcium And Integrin Binding Family Member 2

Function

Calcium-binding protein critical for proper photoreceptor cell maintenance and function. Plays a role in intracellular calcium homeostasis by decreasing ATP-induced calcium release (PubMed:23023331, PubMed:26173970, PubMed:26426422).

May be involved in the mechanotransduction process (By similarity).

Biological Process

Calcium ion homeostasis Source: UniProtKB
Cellular response to ATP Source: UniProtKB
Photoreceptor cell maintenance Source: UniProtKB
Positive regulation of cytosolic calcium ion concentration Source: UniProtKB

Cellular Location

Sarcolemma; Cytoplasm; Stereocilium; Photoreceptor inner segment; Photoreceptor outer segment. Colocalized with ITGA7 at the myotendinous junctions (MTJ) and at the neuromuscular junctions (NMJ) (By similarity). Localizes in the cuticular plate along and at the tip of the stereocilia of vestibular sensory hair cells (PubMed:26173970, PubMed:26426422).

Involvement in disease

Deafness, autosomal recessive, 48 (DFNB48):
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB48 patients have prelingual onset of severe to profound sensorineural hearing loss affecting all frequencies.
Usher syndrome 1J (USH1J):
USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.

Sethna, S., Scott, P. A., Giese, A. P., Duncan, T., Jian, X., Riazuddin, S., ... & Ahmed, Z. M. (2021). CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function. Nature Communications, 12(1), 1-19.

Dal Cortivo, G., Marino, V., Iacobucci, C., Vallone, R., Arlt, C., Rehkamp, A., ... & Dell’Orco, D. (2019). Oligomeric state, hydrodynamic properties and target recognition of human Calcium and Integrin Binding protein 2 (CIB2). Scientific reports, 9(1), 1-11.

Booth, K. T., Kahrizi, K., Babanejad, M., Daghagh, H., Bademci, G., Arzhangi, S., ... & Smith, R. J. (2018). Variants in CIB2 cause DFNB48 and not USH1J. Clinical genetics, 93(4), 812-821.

Vallone, R., Dal Cortivo, G., D'Onofrio, M., & Dell'Orco, D. (2018). Preferential binding of Mg2+ over Ca2+ to CIB2 triggers an allosteric switch impaired in Usher Syndrome type 1J. Frontiers in molecular neuroscience, 11, 274.

Michel, V., Booth, K. T., Patni, P., Cortese, M., Azaiez, H., Bahloul, A., ... & El‐Amraoui, A. (2017). CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival. EMBO molecular medicine, 9(12), 1711-1731.

Giese, A. P., Tang, Y. Q., Sinha, G. P., Bowl, M. R., Goldring, A. C., Parker, A., ... & Ahmed, Z. M. (2017). CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells. Nature communications, 8(1), 1-13.

Wang, Y., Li, J., Yao, X., Li, W., Du, H., Tang, M., ... & Xu, Z. (2017). Loss of CIB2 causes profound hearing loss and abolishes mechanoelectrical transduction in mice. Frontiers in molecular neuroscience, 10, 401.

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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme Linked Immunospot (ELISpot)
Proteogenomic
Other Protocols

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Isotype control

For research use only. Not intended for any clinical use.

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