Centre for Arab Genomic Studies a Division of Sheikh Hamdan Award for Medical Sciences

Centre for Arab Genomic Studies A Division of Sheikh Hamdan Award for Medical Sciences

The Catalogue for Transmission Genetics in Arabs CTGA Database

Copine VI

Alternative Names CPNE6 Epidemiology in the Arab World N-Copine Saudi Arabia Anazi et al. (2016) demonstrated the efficiency of Record Category genomic tools as a diagnostic test by analyzing 337 Gene locus Intellectual Disability (ID) patients. The genomic approach was found to have a higher diagnostic WHO-ICD yield than standard clinical evaluations (58% vs N/A to gene loci 16%). Exome sequencing uncovered a homozygous c.1193G>A (p.Arg398His) mutation in the CPNE6 Incidence per 100,000 Live Births gene of a 14 year old Saudi girl. The patient N/A to gene loci belonged to a consanguineous family and suffered from neurodegeneration, strabismus, nystagmus, OMIM Number dysarthria, hypotonia, hyporeflexia and cerebral 605688 white matter hyper-intensity. It was noted that Cpne6 knockout mice have deficient hippocampal Mode of Inheritance long-term potentiation and that the gene is needed N/A to gene loci for synaptic plasticity. Furthermore, the identified amino acid change occurred in the vWFA domain Gene Map Locus and was predicted to affect ligand binding. 14q11.2 References Description Anazi S, Maddirevula S, Faqeih E, Alsedairy H, The CPNE6 gene encodes Copine VI, a member of Alzahrani F, Shamseldin HE, Patel N, Hashem M, the copine protein family. Copines are Ibrahim N, Abdulwahab F, Ewida N, Alsaif HS, Al evolutionarily conserved calcium-dependent Sharif H, Alamoudi W, Kentab A, Bashiri FA, phospholipid-binding proteins. Copine VI contains Alnaser M, AlWadei AH, Alfadhel M, Eyaid W, two N-terminal C2 domains with aspartate residues Hashem A, Al Asmari A, Saleh MM, AlSaman A, required for calcium and phospholipid binding as Alhasan KA, Alsughayir M, Al Shammari M, well as a C-terminal von Willebrand factor A Mahmoud A, Al-Hassnan ZN, Al-Husain M, domain. While the exact function of this protein is Osama Khalil R, Abd El Meguid N, Masri A, Ali R, yet to be elucidated, it is predicted to play a role in Ben-Omran T, El Fishway P, Hashish A, Ercan membrane trafficking and synaptic plasticity. Its Sencicek A, State M, Alazami AM, Salih MA, location in the cell body and dendrites of neurons Altassan N, Arold ST, Abouelhoda M, Wakil SM, suggests a role for copine VI in postsynaptic events. Monies D, Shaheen R, Alkuraya FS. Clinical genomics expands the morbid genome of Molecular Genetics intellectual disability and offers a high diagnostic The CPNE6 gene is located on the long arm of yield. Mol Psychiatry. 2016 Jul 19. PMID: chromosome 14 at position 14q11.2. It spans a 27431290. length of 7 kb and its coding sequence is spread across 18 exons. The protein product encoded by Related CTGA Records CPNE6 has a molecular mass of 61.9 kDa and consists of 557 amino acids. Alternative splicing External Links results in an additional isoform made up of 612 http://www.genecards.org/cgi- amino acids. The gene is found to be overexpressed bin/carddisp.pl?gene=CPNE6 in the brain, spinal cord, retina and seminal vesicle.

Contributors 22.01.2017 Sayeeda Hana