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

RUVBL2 - RuvB like AAA ATPase 2 Gene

中文名称:RuvB 样 AAA ATPase 2

种属: Homo sapiens

同用名: RVB2; TIH2; ECP51; TIP48; CGI-46; ECP-51; INO80J; REPTIN; TIP49B; TAP54-beta

基因 ID: 10856 | 基因类型: protein coding

关于 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.

功能概要

该基因编码细菌 RuvB 基因的第二个人类同系物。细菌 RuvB 蛋白是同源重组和 DNA 双链断裂修复所必需的 DNA 解旋酶。功能分析表明该基因产物同时具有 ATP 酶和 DNA 解旋酶活性。该基因与染色体 19q13.3 上的 CGB/LHB 基因簇物理连锁,并且与 LHB 基因非常接近 (55 nt) ,方向相反。[RefSeq 提供,2008 年 7 月]

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 基因产物(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 蛋白结构

TIP49

TIP49: TIP49 C-terminus (21 - 411)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 463 a.a.
蛋白主名 其他名称

ruvB-like 2

48 kDa TATA box-binding protein-interacting protein

重组 RUVBL2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71661 RUVBL2 Protein, Human (His-SUMO) Q9Y230-1 (A2-S463) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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