CIB2 recombinant protein

CIB2 Protein, Human, Recombinant (His Tag)

Cat. Num. AAA8121199

• Gene Names: CIB2; KIP2; USH1J; DFNB48
• Purity: >75% as determined by SDS-PAGE
• Synonyms: CIB2; CIB2 Protein; Human; Recombinant (His Tag); Human CIB2/KIP-2 Protein (His Tag); DFNB48 Protein; KIP2 Protein; USH1J Protein; calcium and integrin binding family member 2; CIB2 recombinant protein

• Host: E Coli
• Purity/Purification: >75% as determined by SDS-PAGE
• Form/Format: Lyophilized from sterile 50mM Tris, 20% glycerol, pH8.0. Normally 5%-8% trehalose, mannitol and 0.01% Tween80 are added as protectants before lyophilization. Please refer to the specific buffer information in the hard copy of CoA.
• Sequence: Met1-Ile187

• Species: Human
• Predicted N Terminal: Met
• Tag: N-His
• Protein Construction: A DNA sequence encoding the mature form of human CIB2 (O75838)(Met 1-Ile 187) was expressed, with a polyhistide tag at the N-terminus.
• Reconstitution: A hardcopy of COA with reconstitution instruction is sent along with the products. Please refer to it for detailed information.
• Preparation and Storage: Samples are stable for up to twelve months from date of receipt at -20 degree C to -80 degree C. Store it under sterile conditions at -20 degree C to -80 degree C. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.; In general, recombinant proteins are provided as lyophilized powder which are shipped at ambient temperature. Bulk packages of recombinant proteins are provided as frozen liquid.; They are shipped out with blue ice.

SDS-Page

Related Product Information for CIB2 recombinant protein

Background: Calcium and integrin-binding protein 2 (CIB2) belongs to a protein family with four known members, CIB1 through CIB4, which are characterized by multiple calcium-binding EF-hand domains. Sensorineural hearing loss is genetically heterogeneous. The mutations in CIB2, which encodes a calcium- and integrin-binding protein, are associated with nonsyndromic deafness (DFNB48) and Usher syndrome type 1J (USH1J). Furthermore, in zebrafish and Drosophila melanogaster, CIB2 is essential for the function and proper development of hair cells and retinal photoreceptor cells. We also show that CIB2 is a new member of the vertebrate Usher interactome. Variants in CIB2 can underlie either Usher syndrome type I (USH1J) or nonsyndromic hearing impairment (NSHI)(DFNB48). CIB2 is widely expressed in various human and animal tissues, mainly in skeletal muscle, nervous tissue, inner ear, and retina. The CIB2 protein is responsible for maintaining Ca(2+) homeostasis in cells and interacting with integrins-transmembrane receptors essential for cell adhesion, migration, and activation of signaling pathways. Calcium signaling pathway is crucial for signal transduction in the inner ear, and integrins regulate hair cell differentiation and maturation of the stereocilia.

References

Blazejczyk M, et al. (2006) Myristoylation and membranous localization of Calmyrin2, a new member of Neuronal Calcium-Sensor proteins. FENS Forum Abstracts. 3.Hollenbach AD, et al. (2006) The EF-hand calcium-binding protein calmyrin inhibits the transcriptional and DNA-binding activity of Pax3. Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1574(3): 321-8.Blazejczyk M, et al. (2009) Biochemical characterization and expression analysis of a novel EF-hand Ca2+ binding protein calmyrin2 (Cib2) in brain indicates its function in NMDA receptor mediated Ca2+ signaling. Archives of Biochemistry and Biophysics. 487(1): 66-78.

NCBI and Uniprot Product Information

• NCBI GI #: 5453708
• NCBI GeneID: 10518
• NCBI Accession #: NP_006374.1
• NCBI GenBank Nucleotide #: NM_006383.3
• UniProt Accession #: O75838
• Molecular Weight: 21,644 Da
• NCBI Official Full Name: calcium and integrin-binding family member 2 isoform 1
• NCBI Official Synonym Full Names: calcium and integrin binding family member 2
• NCBI Official Symbol: CIB2
• NCBI Official Synonym Symbols: KIP2; USH1J; DFNB48
• NCBI Protein Information: calcium and integrin-binding family member 2; KIP 2; 2810434I23Rik; Usher syndrome 1J (autosomal recessive); DNA-dependent protein kinase catalytic subunit-interacting protein 2
• UniProt Protein Name: Calcium and integrin-binding family member 2
• Protein Family: Calcium and integrin-binding family
• UniProt Gene Name: CIB2
• UniProt Synonym Gene Names: KIP2; KIP 2
• UniProt Entry Name: CIB2_HUMAN

NCBI Description

The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. This suggests that the encoded protein may be a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

Uniprot Description

CIB2: Critical for proper photorecetor cell maintenance and function. May play a role in calcium homeostasis and participate in calcium regulation in the mechanotransduction process

Protein type: Calcium-binding

Chromosomal Location of Human Ortholog: 15q24

Cellular Component: muscle tendon junction; photoreceptor inner segment; neuromuscular junction; sarcolemma

Molecular Function: integrin binding; protein binding; calcium ion binding

Biological Process: calcium ion homeostasis; photoreceptor cell maintenance

Disease: Deafness, Autosomal Recessive 48; Usher Syndrome, Type Ij