Identity
HGNC
LOCATION
2p24.3
LOCUSID
ALIAS
ILFS2,NAG,SOPH
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 51594
MIM: 608025
HGNC: 15625
Ensembl: ENSG00000151779
Variants:
dbSNP: 51594
ClinVar: 51594
TCGA: ENSG00000151779
COSMIC: NBAS
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36768954 | 2023 | Modulation of NBAS-Related Functions in the Early Response to SARS-CoV-2 Infection. | 0 |
| 36768954 | 2023 | Modulation of NBAS-Related Functions in the Early Response to SARS-CoV-2 Infection. | 0 |
| 35902954 | 2022 | NBAS, a gene involved in cytotoxic degranulation, is recurrently mutated in pediatric hemophagocytic lymphohistiocytosis. | 2 |
| 35902954 | 2022 | NBAS, a gene involved in cytotoxic degranulation, is recurrently mutated in pediatric hemophagocytic lymphohistiocytosis. | 2 |
| 33542026 | 2021 | Novel compound heterozygous variants in the NBAS gene in a child with osteogenesis imperfecta and recurrent acute liver failure. | 0 |
| 33707149 | 2021 | Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants. | 1 |
| 34386911 | 2021 | NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency. | 6 |
| 33542026 | 2021 | Novel compound heterozygous variants in the NBAS gene in a child with osteogenesis imperfecta and recurrent acute liver failure. | 0 |
| 33707149 | 2021 | Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants. | 1 |
| 34386911 | 2021 | NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency. | 6 |
| 32146038 | 2020 | Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature review. | 8 |
| 32297715 | 2020 | Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades. | 1 |
| 32146038 | 2020 | Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature review. | 8 |
| 32297715 | 2020 | Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades. | 1 |
| 30825388 | 2019 | NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations. | 8 |
Citation
Dessen P
NBAS (NBAS subunit of NRZ tethering complex)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/41492/nbas
