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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 08 Dec 2016.

Calcium and integrin binding family member 2

CIB2, KIP 2
Top mentioned proteins: Kip, HAIR, myosin VIIa, whirlin, p27
Papers on CIB2
Integrated multiomics approach identifies calcium and integrin-binding protein-2 as a novel gene for pulse wave velocity.
New
AortaGen Consortium et al., Norwood, United States. In J Hypertens, Jan 2016
We identified one single-nucleotide polymorphism (rs7164338) in the calcium and integrin-binding protein-2 (CIB2) gene on chromosome 15q25.1 associated with PWV [β = -0.359, standard error (SE) = 0.07, P = 4.8 × 10].
PDZD7 and hearing loss: More than just a modifier.
New
Smith et al., Tehrān, Iran. In Am J Med Genet A, Dec 2015
We also describe a novel likely disease-causing mutation in CIB2 and illustrate the complexity associated with gene identification in diseases that exhibit large genetic and phenotypic heterogeneity.
Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells.
New
Kremer et al., Nijmegen, Netherlands. In Eur J Hum Genet, Aug 2015
UNASSIGNED: Variants in CIB2 can underlie either Usher syndrome type I (USH1J) or nonsyndromic hearing impairment (NSHI) (DFNB48).
A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family.
Morrow et al., New York City, United States. In Plos One, 2014
Previously, mutations in CIB2 have been identified as a common cause of genetic hearing loss in Pakistani and Turkish populations.
Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.
Bolz et al., Nieder-Ingelheim, Germany. In Hum Mutat, 2014
Deafness in these families clearly resulted from mutations in other genes (MYO7A, EYA1, and CIB2).
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
Millán et al., Valencia, Spain. In Orphanet J Rare Dis, 2013
METHODS: A custom HaloPlex panel for Illumina platforms was designed to capture all exons of the 10 known causative Usher syndrome genes (MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2, USH2A, GPR98, DFNB31 and CLRN1), the two Usher syndrome-related genes (HARS and PDZD7) and the two candidate genes VEZT and MYO15A.
Multiple bHLH proteins form heterodimers to mediate CRY2-dependent regulation of flowering-time in Arabidopsis.
Lin et al., Shanghai, China. In Plos Genet, 2012
Our genetic analysis demonstrates that CIB1, CIB2, CIB4, and CIB5 act redundantly to activate the transcription of FT and that they are positive regulators of CRY2 mediated flowering.
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Scherer et al., Toronto, Canada. In G3 (bethesda), 2012
Several of the CGH-specific CNVs are rare in population frequency and impact previously reported ASD genes (e.g., NRXN1, GRM8, DPYD), as well as novel ASD candidate genes (e.g., CIB2, DAPP1, SAE1), and all were inherited except for a de novo CNV in the GPHN gene.
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.
Impact
Ahmed et al., Cincinnati, United States. In Nat Genet, 2012
Here, we report that mutations in CIB2, which encodes a calcium- and integrin-binding protein, are associated with nonsyndromic deafness (DFNB48) and Usher syndrome type 1J (USH1J).
Biophysical and structural studies of the human calcium- and integrin-binding protein family: understanding their functional similarities and differences.
Vogel et al., Calgary, Canada. In Biochem Cell Biol, 2012
In this study, three other members of this protein family (CIB2-4: CIB2, CIB3, and CIB4) were purified and subsequently characterized using biophysical and structural approaches.
Molecular characterization of the sheep CIB1 gene.
Wang et al., Beijing, China. In Mol Biol Rep, 2009
We cloned the sheep CIB2, CIB3 and CIB4 genes and detected their expression patterns in different tissues.
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.
GeneRIF
Wojda et al., Warsaw, Poland. In Arch Biochem Biophys, 2009
CaMy2 binds Ca2+ and exhibits Ca2+/conformational switch. Moreover, CaMy2 undergoes N-myristoylation without Ca2+/myristoyl switch, is membrane-associated and localizes in neurons together with Golgi apparatus and dendrite markers.
Cib2 binds integrin alpha7Bbeta1D and is reduced in laminin alpha2 chain-deficient muscular dystrophy.
GeneRIF
Durbeej et al., Lund, Sweden. In J Biol Chem, 2008
Cib2 binds integrin alpha7Bbeta1D and is reduced in laminin alpha2 chain-deficient muscular dystrophy
[Proliferative regulation in the cornea and lens].
Review
Ohno et al., Sapporo, Japan. In Nihon Ganka Gakkai Zasshi, 2003
To examine the involvement of the c-maf gene in the proliferation of the lens cells, eyes of the E13 and E18 stages of wild-type and c-maf-/- mice were analyzed by BrdU incorporation assay, TUNEL assay, and immunocytochemistry using an anti-P 27 (KIP 1) and an anti-P 57 (KIP 2) antibody.
Usher Syndrome Type I
Review
Lentz et al., Seattle, United States. In Unknown Journal, 2000
Mutation of genes at a minimum of nine different loci causes Usher syndrome type I. Genes at six of these loci – MYO7A (USH1B), USH1C, CDH23 (USH1D), PCDH15 (USH1F), USH1G, and CIB2 (USH1J) – have been identified.
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