Gene: NBEA

Alternate names for this Gene: BCL8B|LYST2

Gene Summary: This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. This gene and its expression are frequently disrupted in patients with multiple myeloma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants may exist, but their full-length nature has not been determined.

Gene is located in Chromosome: 13

Location in Chromosome : 13q13.3

Description of this Gene: neurobeachin

Type of Gene: protein-coding

rs1777672 in NBEA gene and ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO PMID 20041166 2009 Common genetic variation and the control of HIV-1 in humans.

rs1777672 in NBEA gene and AIDS, PROGRESSION TO PMID 20041166 2009 Common genetic variation and the control of HIV-1 in humans.

rs9544156 in NBEA gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs9544930 in NBEA gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs180940944 in NBEA gene and Carcinoma of bladder PMID 31277774 2019 Our study suggests that rs180940944 (NBEA) is associated with an increased NMIBC tumour size at the time of diagnosis.

rs878853169 in NBEA gene and Delayed speech and language development PMID 30269351 2018 NBEA: Developmental disease gene with early generalized epilepsy phenotypes.

rs1777672 in NBEA gene and HIV-1, RESISTANCE TO PMID 20041166 2009 Common genetic variation and the control of HIV-1 in humans.

rs1777672 in NBEA gene and HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO PMID 20041166 2009 Common genetic variation and the control of HIV-1 in humans.

rs878853169 in NBEA gene and Limitation of joint mobility PMID 30269351 2018 NBEA: Developmental disease gene with early generalized epilepsy phenotypes.

rs869312667 in NBEA gene and Moderate intellectual disability PMID 30269351 2018 NBEA: Developmental disease gene with early generalized epilepsy phenotypes.

rs869312667 in NBEA gene and Seizures PMID 30269351 2018 NBEA: Developmental disease gene with early generalized epilepsy phenotypes.

rs9565436 in NBEA gene and Systolic Pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

rs9544444 in NBEA gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.