NBAS (NBAS subunit of NRZ tethering complex)

2003-02-01 Affiliation

Identity

HGNC

NBAS

LOCATION

2p24.3

LOCUSID

51594

ALIAS

ILFS2,NAG,SOPH

FUSION GENES

Show Gene Fusions

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

Gene ID	Transcript ID	Uniprot
ENSG00000151779	ENST00000281513	A2RRP1
ENSG00000151779	ENST00000417461	H7C007
ENSG00000151779	ENST00000423602	H7C1Y9
ENSG00000151779	ENST00000427792	H7C1U4
ENSG00000151779	ENST00000429842	H7BZU5
ENSG00000151779	ENST00000433283	H7BZR3
ENSG00000151779	ENST00000441755	C9JCM7
ENSG00000151779	ENST00000442506	H0Y5G7

Expression (GTEx)

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

Pathway	Source	External ID
Vesicle-mediated transport	REACTOME	R-HSA-5653656
Membrane Trafficking	REACTOME	R-HSA-199991
Intra-Golgi and retrograde Golgi-to-ER traffic	REACTOME	R-HSA-6811442
Golgi-to-ER retrograde transport	REACTOME	R-HSA-8856688
COPI-dependent Golgi-to-ER retrograde traffic	REACTOME	R-HSA-6811434

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
19369418	2009	Identification of the neuroblastoma-amplified gene product as a component of the syntaxin 18 complex implicated in Golgi-to-endoplasmic reticulum retrograde transport.	32
23828042	2013	DHX34 and NBAS form part of an autoregulatory NMD circuit that regulates endogenous RNA targets in human cells, zebrafish and Caenorhabditis elegans.	28
26073778	2015	Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.	24
23991058	2013	Breakpoint features of genomic rearrangements in neuroblastoma with unbalanced translocations and chromothripsis.	22
20577004	2010	Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly.	20
26286438	2015	NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.	17
27789416	2017	Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.	13
17028906	2007	Relationship of DDX1 and NAG gene amplification/overexpression to the prognosis of patients with MYCN-amplified neuroblastoma.	7
28576691	2017	Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS.	6

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