2. Gene
  3. RUVBL2 - RuvB like AAA ATPase 2 Gene

RUVBL2 - RuvB like AAA ATPase 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as RVB2; TIH2; ECP51; TIP48; CGI-46; ECP-51; INO80J; REPTIN; TIP49B; TAP54-beta

Gene ID: 10856 | Gene type: protein coding

About RUVBL2

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:48,993,448-49,015,995 (from NCBI)

This gene has 14 transcripts (splice variants), 196 orthologues and 1 paralogue. Broad expression in testis (RPKM 64.1), colon (RPKM 12.0) and 24 other tissues.

Summary

This gene encodes the second human homologue of the Bacterial RuvB gene. Bacterial RuvB protein is a DNA helicase essential for homologous recombination and DNA double-strand break repair. Functional analysis showed that this gene product has both ATPase and DNA helicase activities. This gene is physically linked to the CGB/LHB gene cluster on chromosome 19q13.3, and is very close (55 nt) to the LHB gene, in the opposite orientation. [provided by RefSeq, Jul 2008]

RUVBL2 Products(3)

mRNA Protein Name
NM_001321190.2 NP_001308119.1 ruvB-like 2 isoform 2
NM_001321191.1 NP_001308120.1 ruvB-like 2 isoform 3
NM_006666.3 NP_006657.1 ruvB-like 2 isoform 1

RUVBL2 Protein Structure

TIP49

TIP49: TIP49 C-terminus (21 - 411)

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  • 463 a.a.
Protein Preferred Names Protein Names

ruvB-like 2

48 kDa TATA box-binding protein-interacting protein

Recombinant RUVBL2 Proteins

Cat. No. Product Name Accession Purity
HY-P71661 RUVBL2 Protein, Human (His-SUMO) Q9Y230 (2A-463S) ≥95%

Related Diseases

Diseases Alias
Hemangioma Of Spleen

Splenic Hemangioma
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Smard1

DSMA1

Sianrf

Dhmn6

Spinal Muscular Atrophy With Respiratory Distress 1

HMN6

Severe Infantile Axonal Neuropathy With Respiratory Failure

Autosomal Recessive Distal Spinal Muscular Atrophy 1

Diaphragmatic Spinal Muscular Atrophy

Spinal Muscular Atrophy With Respiratory Distress Type 1

Neuronopathy, Distal Hereditary Motor, Type Vi

Hmn Vi

Neuronopathy, Severe Infantile Axonal, With Respiratory Failure

Distal Spinal Muscular Atrophy 1

Autosomal Recessive Spinal Muscular Atrophy With Respiratory Distress

Distal Hereditary Motor Neuropathy Type 6

Distal-Hmn Type 6

Severe Infantile Axonal Neuropathy With Respiratory Failure Type 1

Spinal Muscular Atrophy, Diaphragmatic

Distal Hereditary Motor Neuronopathy Type Vi

Distal Spinal Muscular Atrophy Type 1

Hmnvi

Spinal Muscular Atrophy With Respiratory Distress

Autosomal Recessive Distal Spinal Muscular Atrophy Type 1

Neuronopathy, Distal Hereditary Motor, 6

Dhmn Vi

Distal Hereditary Motor Neuropathy Type Vi

Severe Infantile Axonal Neuronopathy With Respiratory Failure

Spinal Muscular Atrophy Distal Autosomal Recessive 1

Atrophy, Muscular, Spinal, Distal, Type 1
Autosomal Recessive Distal Hereditary Motor Neuronopathy

Autosomal Recessive Distal Spinal Muscular Atrophy
Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant

Dc

Dkc

Zinsser-Engman-Cole Syndrome

Dyskeratosis Congenita, Autosomal Dominant

Autosomal Dominant Dyskeratosis Congenita

Dkca

Dyskeratosis Congenita Scoggins Type

Zinsser-Cole-Engman Syndrome

X-Linked Dyskeratosis Congenita

Hoyeraal-Hreidarsson Syndrome
Primary Ciliary Dyskinesia

Immotile Cilia Syndrome

Kartagener Syndrome

Dextrocardia Bronchiectasis And Sinusitis

Pcd

Ciliary Motility Disorders

Ciliary Motility Disorder

Immotile Ciliary Syndrome

Ciliary Dyskinesia Primary

Ics

Polynesian Bronchiectasis

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome, Kartagener Type

Primary Ciliary Dyskinesia And Situs Inversus

Primary Ciliary Dyskinesia, Kartagener Type

Siewert Syndrome

Dyskinesia, Ciliary, Primary
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-146074 RUVBL1/2 ATPase-IN-1 99.78% Unkown
HY-RS12355 RUVBL2 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus RUVBL2 VGNC VGNC:34224
Macaca mulatta RUVBL2 VGNC VGNC:76950
Mus musculus RUVBL2 MGD MGI:1342299
Canis familiaris RUVBL2 VGNC VGNC:45812
Felis catus RUVBL2 VGNC VGNC:64826
Rattus norvegicus RUVBL2 RGD RGD:1306509
Others RUVBL2 NCBI