Mouse Anti-CIB2 Recombinant Antibody (12) (CBMAB-C2562-LY)

Name: Mouse Anti-CIB2 Recombinant Antibody (12)
SKU: CBMAB-C2562-LY
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

Host Animal

Mouse

Clone

Application

ELISA

Immunogen

Recombinant Human CIB2 protein.

Host Species

Mouse

Specificity

Human

Antibody Isotype

IgG1

Clonality

Monoclonal Antibody

Application Notes

The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Application	Note
ELISA	1:1,000-1:2,000

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

Format

Liquid

Buffer

PBS

Preservative

None

Concentration

Batch dependent

Purity

> 95% Purity determined by SDS-PAGE.

Storage

Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

More Infomation

Target

Full Name

Calcium And Integrin Binding Family Member 2

Introduction

The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance. Mutations in this gene cause deafness, autosomal recessive, 48 (DFNB48), and also Usher syndrome 1J (USH1J). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Entrez Gene ID

10518

UniProt ID

O75838

Alternative Names

Calcium And Integrin Binding Family Member 2; KIP2; DNA-Dependent Protein Kinase Catalytic Subunit-Interacting Protein 2; Calcium And Integrin-Binding Family Member 2; Usher Syndrome 1J (Autosomal Recessive); Deafness, Autosomal Recessive 48;

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

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