NVL - nuclear VCP like Gene

Homo sapiens

Also known as NVL2

Gene ID: 4931 | Gene type: protein coding

About NVL

Cytogenetic location: 1q42.11 Genomic coordinates (GRCh38): 1:224,227,345-224,330,172 (from NCBI)

This gene has 24 transcripts (splice variants), 207 orthologues and 5 paralogues. Ubiquitous expression in skin (RPKM 7.5), lymph node (RPKM 5.1) and 25 other tissues.

Summary

This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) superfamily. Multiple transcript variants encoding different isoforms have been found for this gene. Two encoded proteins, described as major and minor isoforms, have been localized to distinct regions of the nucleus. The largest encoded protein (major isoform) has been localized to the nucleolus and shown to participate in ribosome biosynthesis (PMID: 15469983, 16782053), while the minor isoform has been localized to the nucleoplasmin. [provided by RefSeq, Aug 2011]

NVL Products(4)

mRNA	Protein	Name
NM_001243146.2	NP_001230075.1	nuclear valosin-containing protein-like isoform 3
NM_001243147.2	NP_001230076.1	nuclear valosin-containing protein-like isoform 4
NM_002533.4	NP_002524.2	nuclear valosin-containing protein-like isoform 1
NM_206840.3	NP_996671.1	nuclear valosin-containing protein-like isoform 2

NVL Protein Structure

AAA

0
200
400
600
800
856 a.a.

Protein Preferred Names

Protein Names

nuclear valosin-containing protein-like

NVLp

Related Diseases

Diseases

Alias

Epilepsy, Juvenile Absence 1

Epilepsy, Juvenile Absence, Susceptibility To, 1	EJA1
JAE1	Juvenile Absence Epilepsy 1
Susceptibility To Juvenile Absence Epilepsy 1	Epilepsy, Juvenile Absence, Susceptibility To, Type 1
Absence Epilepsy

Chromosome 1q41-Q42 Deletion Syndrome

1q41-Q42 Microdeletion Syndrome	1q41q42 Microdeletion Syndrome
Holoprosencephaly 10, Included	Hpe10, Included
1q41-Q42 Deletion Syndrome	Deletion 1q41-Q42
Monosomy 1q41-Q42	Del(1)(Q41q42)
Monosomy 1q41q42	Chromosome Deletion Syndrome 1q41-Q42
Holoprosencephaly 10

Greenberg Dysplasia

Hem Dysplasia	Greenberg Skeletal Dysplasia
Hem Skeletal Dysplasia	GRBGD
Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia	Moth-Eaten Skeletal Dysplasia
Chondrodystrophy, Hydropic And Prenatally Lethal Type	Hydrops-Ectopic Calcification-Motheaten Syndrome
Skeletal Dysplasia, Greenberg Type	Autosomal Recessive Lethal Chondrodystrophy With Congenital Hydrops
Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia	Hem
Hem/Greenberg Dysplasia	Hydrops - Ectopic Calcification - Moth-Eaten Skeletal Dysplasia

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-152292	Zidesamtinib	Inhibitor	99.55%	Unkown
HY-RS09707	NVL Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	NVL	MGD	MGI:1914709
Rattus norvegicus	NVL	RGD	RGD:1311270
Macaca mulatta	NVL	VGNC	VGNC:75564
Felis catus	NVL	VGNC	VGNC:68602
Bos taurus	NVL	VGNC	VGNC:32372
Canis familiaris	NVL	VGNC	VGNC:44068

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