RUVBL2 - RuvB like AAA ATPase 2 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10856

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)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 463 a.a.
Protein Preferred Names Protein Names

ruvB-like 2

  • 48 kDa TATA box-binding protein-interacting protein

RUVBL2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
RUVBL2 Q9Y230 CCDC103 Homo sapiens Q8IW40 25416956
Intra
RUVBL2 Q9Y230 CCDC103 Homo sapiens Q8IW40 25416956
Cross
RUVBL2 Q9Y230 Dpcd Mus musculus Q8BPA8 29959317
Intra
RUVBL2 Q9Y230 RUVBL1 Homo sapiens Q9Y265 10966108
Intra
RUVBL2 Q9Y230 RUVBL1 Homo sapiens Q9Y265 16230350
Intra
RUVBL2 Q9Y230 DNAJB4 Homo sapiens Q9UDY4 32296183
Intra
RUVBL2 Q9Y230 DNAJB4 Homo sapiens Q9UDY4 32296183
Intra
RUVBL2 Q9Y230 EP400 Homo sapiens Q96L91 28514442
Intra
RUVBL2 Q9Y230 EP400 Homo sapiens Q96L91 35271311
Intra
RUVBL2 Q9Y230 EP400 Homo sapiens Q96L91 33961781
Intra
RUVBL2 Q9Y230 LNX1 Homo sapiens Q8TBB1 25416956
Intra
RUVBL2 Q9Y230 LNX1 Homo sapiens Q8TBB1 25416956
Intra
RUVBL2 Q9Y230 DPCD Homo sapiens Q9BVM2 16189514
Intra
RUVBL2 Q9Y230 DPCD Homo sapiens Q9BVM2 17353931
Intra
RUVBL2 Q9Y230 DPCD Homo sapiens Q9BVM2 25416956
Intra
RUVBL2 Q9Y230 DPCD Homo sapiens Q9BVM2 33961781
Intra
RUVBL2 Q9Y230 DPCD Homo sapiens Q9BVM2 28514442
Intra
RUVBL2 Q9Y230 DPCD Homo sapiens Q9BVM2 25416956
Intra
RUVBL2 Q9Y230 DPCD Homo sapiens Q9BVM2 35271311
Intra
RUVBL2 Q9Y230 YY1 Homo sapiens P25490 28514442
Intra
RUVBL2 Q9Y230 YY1 Homo sapiens P25490 18026119
Intra
RUVBL2 Q9Y230 YY1 Homo sapiens P25490 33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant RUVBL2 Proteins

Art. -Nr. Produktname Accession Reinheit
HY-P71661 RUVBL2 Protein, Human (His-SUMO) Q9Y230-1 (A2-S463) ≥ 90%, as determined by reducing SDS-PAGE.

RUVBL2 Antibodies

Art. -Nr. Produktname Anwendung Reactivity
HY-P83603 Reptin Antibody (YA3348) WB Human, Mouse

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

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