NVL (nuclear VCP like)

2007-02-01  

Identity

HGNC
LOCATION
1q42.11
LOCUSID
ALIAS
NVL2
FUSION GENES

Other Information

Locus ID:

NCBI: 4931
MIM: 602426
HGNC: 8070
Ensembl: ENSG00000143748

Variants:

dbSNP: 4931
ClinVar: 4931
TCGA: ENSG00000143748
COSMIC: NVL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143748ENST00000281701O15381
ENSG00000143748ENST00000340871O15381
ENSG00000143748ENST00000391875O15381
ENSG00000143748ENST00000436927C9JP83
ENSG00000143748ENST00000461546E9PGD8
ENSG00000143748ENST00000467882E9PH71
ENSG00000143748ENST00000469075O15381
ENSG00000143748ENST00000469968O15381
ENSG00000143748ENST00000470989F8WF01
ENSG00000143748ENST00000481213A0A087WV72
ENSG00000143748ENST00000482491O15381
ENSG00000143748ENST00000488718E7EWK7
ENSG00000143748ENST00000492281C9J6P7

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Ribosome biogenesis in eukaryotesKEGGko03008
Ribosome biogenesis in eukaryotesKEGGhsa03008

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
154699832004NVL2 is a nucleolar AAA-ATPase that interacts with ribosomal protein L5 through its nucleolar localization sequence.14
167820532006The AAA-ATPase NVL2 is a component of pre-ribosomal particles that interacts with the DExD/H-box RNA helicase DOB1.11
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.11
214744492011Structure and function of the N-terminal nucleolin binding domain of nuclear valosin-containing protein-like 2 (NVL2) harboring a nucleolar localization signal.9
222269662012The AAA-ATPase NVL2 is a telomerase component essential for holoenzyme assembly.9
264566512015AAA-ATPase NVL2 acts on MTR4-exosome complex to dissociate the nucleolar protein WDR74.9
261668242015NVL2, a nucleolar AAA-ATPase, is associated with the nuclear exosome and is involved in pre-rRNA processing.7
258912502015The NVL gene confers risk for both major depressive disorder and schizophrenia in the Han Chinese population.6
291076932018WDR74 participates in an early cleavage of the pre-rRNA processing pathway in cooperation with the nucleolar AAA-ATPase NVL2.6
198512962010Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.3

Citation

Dessen P

NVL (nuclear VCP like)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46210/nvl