Gene: NBAS

Alternate names for this Gene: ILFS2|NAG|SOPH

Gene Summary: This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly.

Gene is located in Chromosome: 2

Location in Chromosome : 2p24.3

Description of this Gene: NBAS subunit of NRZ tethering complex

Type of Gene: protein-coding

rs1430797 in NBAS gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs368085185 in NBAS gene and Developmental delay (disorder) PMID 26286438 2015 NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.

rs9287655 in NBAS gene and Hepatitis B, Chronic PMID 30972912 2019 Genetic variation in FCER1A predicts peginterferon alfa-2a-induced hepatitis B surface antigen clearance in East Asian patients with chronic hepatitis B.

rs140841721 in NBAS gene and INFANTILE LIVER FAILURE SYNDROME 2 PMID 26073778 2015 Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.

PMID 26286438 2015 NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.

PMID 28576691 2017 Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS.

rs10929355 in NBAS gene and Major Depressive Disorder PMID 29662059 2018 Genome-wide association study of depression phenotypes in UK Biobank identifies variants in excitatory synaptic pathways.

rs1430797 in NBAS gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs369698072 in NBAS gene and SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY PMID 20577004 2010 Subsequently, 33 of 34 patients were identified with SOPH syndrome and had a 5741G/A nucleotide substitution (resulting in the amino acid substitution R1914H) in the NBAS gene in the homozygous state.

PMID 26073778 2015 Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.

rs2033354 in NBAS gene and Sleep Apnea, Obstructive PMID 26977737 2016 Genetic Associations with Obstructive Sleep Apnea Traits in Hispanic/Latino Americans.

rs2111449 in NBAS 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.