NBAS (NBAS subunit of NRZ tethering complex)

2003-02-01  

Identity

HGNC
NBAS
LOCATION
2p24.3
LOCUSID
51594
ALIAS
ILFS2,NAG,SOPH
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51594
MIM: 608025
HGNC: 15625
Ensembl: ENSG00000151779

Variants:

dbSNP: 51594
ClinVar: 51594
TCGA: ENSG00000151779
COSMIC: NBAS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000151779ENST00000281513A2RRP1
ENSG00000151779ENST00000417461H7C007
ENSG00000151779ENST00000423602H7C1Y9
ENSG00000151779ENST00000427792H7C1U4
ENSG00000151779ENST00000429842H7BZU5
ENSG00000151779ENST00000433283H7BZR3
ENSG00000151779ENST00000441755C9JCM7
ENSG00000151779ENST00000442506H0Y5G7

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Intra-Golgi and retrograde Golgi-to-ER trafficREACTOMER-HSA-6811442
Golgi-to-ER retrograde transportREACTOMER-HSA-8856688
COPI-dependent Golgi-to-ER retrograde trafficREACTOMER-HSA-6811434

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
367689542023Modulation of NBAS-Related Functions in the Early Response to SARS-CoV-2 Infection.0
367689542023Modulation of NBAS-Related Functions in the Early Response to SARS-CoV-2 Infection.0
359029542022NBAS, a gene involved in cytotoxic degranulation, is recurrently mutated in pediatric hemophagocytic lymphohistiocytosis.2
359029542022NBAS, a gene involved in cytotoxic degranulation, is recurrently mutated in pediatric hemophagocytic lymphohistiocytosis.2
335420262021Novel compound heterozygous variants in the NBAS gene in a child with osteogenesis imperfecta and recurrent acute liver failure.0
337071492021Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants.1
343869112021NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency.6
335420262021Novel compound heterozygous variants in the NBAS gene in a child with osteogenesis imperfecta and recurrent acute liver failure.0
337071492021Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants.1
343869112021NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency.6
321460382020Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature review.8
322977152020Severe 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
321460382020Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature review.8
322977152020Severe 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
308253882019NBAS 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