2. Gene
  3. RAD54B - RAD54 homolog B Gene

RAD54B - RAD54 homolog B Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：RAD54 同系物 B

种属: Homo sapiens

同用名: RDH54

基因 ID: 25788 | 基因类型: protein coding

关于 RAD54B

Cytogenetic location: 8q22.1 Genomic coordinates (GRCh38): 8:94,371,960-94,475,115 (from NCBI)

This gene has 8 transcripts (splice variants), 205 orthologues, 30 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 1.8), prostate (RPKM 1.3) and 25 other tissues.

功能概要

该基因编码的蛋白质属于 DEAD 样解旋酶超家族。它与酿酒酵母 RAD54 和 RDH54 具有相似性，两者都参与 DNA 的同源重组和修复。这种蛋白质与双链 DNA 结合，并在 DNA 存在的情况下表现出 ATP 酶活性。该基因在睾丸和脾脏中高度表达，表明在减数分裂和有丝分裂重组中发挥积极作用。在原发性淋巴瘤和结肠癌中观察到该基因的纯合突变。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene belongs to the DEAD-like helicase superfamily. It shares similarity with Saccharomyces cerevisiae RAD54 and RDH54, both of which are involved in homologous recombination and repair of DNA. This protein binds to double-stranded DNA, and displays ATPase activity in the presence of DNA. This gene is highly expressed in testis and spleen, which suggests active roles in meiotic and mitotic recombination. Homozygous mutations of this gene were observed in primary lymphoma and colon Cancer. [provided by RefSeq, Jul 2008]

RAD54B 基因产物(3)

mRNA Protein Name
NM_001205262.3 NP_001192191.1 DNA repair and recombination protein RAD54B isoform 2
NM_001205263.2 NP_001192192.1 DNA repair and recombination protein RAD54B isoform 3
NM_012415.3 NP_036547.1 DNA repair and recombination protein RAD54B isoform 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA translocase activity IDA
IDA: 通过直接分析推断
16428451 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within double-strand break repair via homologous recombination IDA
IDA: 通过直接分析推断
16428451 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

RAD54B 蛋白结构

SNF2_N

SNF2_N: SNF2 family N-terminal domain (299 - 597)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (680 - 758)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 910 a.a.
蛋白主名 其他名称

DNA repair and recombination protein RAD54B

RAD54B 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
RAD54B Q9Y620 LNX1 Homo sapiens Q8TBB1
Y2H Prey Pooling
32296183
种属内
RAD54B Q9Y620 LNX1 Homo sapiens Q8TBB1
Y2H Array
32296183
种属内
RAD54B Q9Y620 LNX1 Homo sapiens Q8TBB1
Y2H Pooling
16189514
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Lymphoma, Non-Hodgkin, Familial

Non-Hodgkin Lymphoma

Lymphoma, Non-Hodgkin

NHL

Lymphoma, Non-Hodgkin, Somatic

Lymphoma, Follicular, Somatic

Familial Non-Hodgkin Lymphoma

Lymphoma Non-Hodgkins

Follicular Lymphoma, Somatic

Lymphosarcoma

Non-Hodgkins Lymphoma
Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon
Hereditary Breast Ovarian Cancer Syndrome

Hereditary Breast And Ovarian Cancer Syndrome

Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

Breast And/Or Ovarian Cancer

Breast And Ovarian Cancer Syndrome

Hboc Syndrome

Hereditary Breast And Ovarian Cancer

Brca1- Brca2-Associated Hboc
Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS11611 RAD54B Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta RAD54B VGNC VGNC:99473
Bos taurus RAD54B VGNC VGNC:99677
Canis familiaris RAD54B VGNC VGNC:54119
Rattus norvegicus RAD54B RGD RGD:1306507
Mus musculus RAD54B MGD MGI:3605986
Felis catus RAD54B VGNC VGNC:99689
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