1. Gene
  2. RAD51C - RAD51 paralog C Gene

RAD51C - RAD51 paralog C Gene

中文名称:RAD51 旁系同源 C

种属: Homo sapiens

同用名: FANCO; R51H3; BROVCA3; RAD51L2

基因 ID: 5889 | 基因类型: protein coding

关于 RAD51C

Cytogenetic location: 17q22 Genomic coordinates (GRCh38): 17:58,692,573-58,735,611 (from NCBI)

This gene has 38 transcripts (splice variants), 204 orthologues, 6 paralogues and is associated with 7 phenotypes. Ubiquitous expression in testis (RPKM 9.7), brain (RPKM 5.4) and 25 other tissues.

功能概要

该基因是 RAD51 家族的成员。 RAD51 家族成员与细菌 RecA 和酿酒酵母 RAD51 高度相似,并且已知参与 DNA 的同源重组和修复。这种蛋白质可以与其他 RAD51 旁系同源物相互作用,据报道对 Holliday 连接分辨率很重要。该基因的突变与范可尼贫血样综合征有关。该基因是定位于染色体 17q23 区域的四个基因之一,该区域在乳腺肿瘤中经常发生扩增。已经观察到这四种基因在扩增过程中的过度表达,表明它们可能在肿瘤进展中发挥作用。可变剪接导致多个转录本变体。[RefSeq 提供,2013 年 7 月]

This gene is a member of the RAD51 family. RAD51 family members are highly similar to Bacterial RecA and Saccharomyces cerevisiae RAD51 and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with other RAD51 paralogs and is reported to be important for Holliday junction resolution. Mutations in this gene are associated with Fanconi anemia-like syndrome. This gene is one of four localized to a region of chromosome 17q23 where amplification occurs frequently in breast tumors. Overexpression of the four genes during amplification has been observed and suggests a possible role in tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

RAD51C 基因产物(2)

mRNA Protein Name
NM_002876.4 NP_002867.1 DNA repair protein RAD51 homolog 3 isoform 2
NM_058216.3 NP_478123.1 DNA repair protein RAD51 homolog 3 isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
contributes to crossover junction DNA endonuclease activity IMP
IMP: 通过突变表型推断
14716019 GOA
contributes to four-way junction DNA binding IDA
IDA: 通过直接分析推断
20207730 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9469824 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA recombination IDA
IDA: 通过直接分析推断
19451272 GOA
involved in DNA repair IDA
IDA: 通过直接分析推断
19451272 GOA
involved in double-strand break repair via homologous recombination IMP
IMP: 通过突变表型推断
23149936 GOA
involved in positive regulation of G2/M transition of mitotic cell cycle IMP
IMP: 通过突变表型推断
23108668 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of Rad51B-Rad51C-Rad51D-XRCC2 complex IDA
IDA: 通过直接分析推断
11751635 GOA
part of Rad51C-XRCC3 complex IDA
IDA: 通过直接分析推断
11751635 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
16215984 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
20413593 GOA
located in nucleus IDA
IDA: 通过直接分析推断
12966089 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
16215984 GOA
located in replication fork IDA
IDA: 通过直接分析推断
20207730 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

RAD51C 蛋白结构

Rad51

Rad51: Rad51 (86 - 349)

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

DNA repair protein RAD51 homolog 3

RAD51-like protein 2

RAD51C 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
Intra RAD51C O43502 RAD51D Homo sapiens O75771
Pull Down
24141787
Intra RAD51C O43502 RAD51D Homo sapiens O75771
Pull Down
11751635
Intra RAD51C O43502 PALB2 Homo sapiens Q86YC2
Pull Down
24141787
Intra RAD51C O43502 PALB2 Homo sapiens Q86YC2
Anti Tag CoIP
24141787
Intra RAD51C O43502 PALB2 Homo sapiens Q86YC2
Immunodepletion CoIP
24141787
Intra RAD51C O43502 RAD51B Homo sapiens O15315
Pull Down
11751635
Intra RAD51C O43502 RAD51B Homo sapiens O15315
Anti Bait CoIP
11842113
Intra RAD51C O43502 RAD51B Homo sapiens O15315
Anti Tag CoIP
34591612
Intra RAD51C O43502 RAD51B Homo sapiens O15315
Y2H
28864920
Intra RAD51C O43502 RAD51B Homo sapiens O15315
Pull Down
24141787
Intra RAD51C O43502 XRCC3 Homo sapiens O43542
Y2H
28864920
Intra RAD51C O43502 XRCC3 Homo sapiens O43542
Electrophoresis
11751635
Intra RAD51C O43502 XRCC3 Homo sapiens O43542
GMS
11751635
Intra RAD51C O43502 XRCC3 Homo sapiens O43542
Pull Down
24141787
Intra RAD51C O43502 XRCC3 Homo sapiens O43542
Anti Tag CoIP
34591612
Intra RAD51C O43502 XRCC3 Homo sapiens O43542
Anti Bait CoIP
24005329
Intra RAD51C O43502 RAD51 Homo sapiens Q06609
Pull Down
24141787
Intra RAD51C O43502 RAD51 Homo sapiens Q06609
Immunodepletion CoIP
24141787
Intra RAD51C O43502 RAD51 Homo sapiens Q06609
Anti Bait CoIP
16395335
Intra RAD51C O43502 RAD51 Homo sapiens Q06609
Anti Tag CoIP
24141787
Intra RAD51C O43502 XRCC2 Homo sapiens O43543
Pull Down
24141787
Intra RAD51C O43502 SWSAP1 Homo sapiens Q6NVH7
Anti Tag CoIP
21965664
Intra RAD51C O43502 SWSAP1 Homo sapiens Q6NVH7
Pull Down
21965664
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
Breast-Ovarian Cancer, Familial 3

Breast-Ovarian Cancer, Familial, Susceptibility To, 3

BROVCA3

Breast-Ovarian Cancer, Familial, 3

Breast Cancer Familial 3

Ovarian Cancer Familial 3

Cancer, Breast-Ovarian, Familial, Susceptibility To, Type 3

Fanconi Anemia, Complementation Group O

Fanconi Anemia Complementation Group O

FANCO

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

Hereditary Site-Specific Ovarian Cancer Syndrome
Ovarian Cancer 1

Ovarian Cancer, Susceptibility To

Ovarian Cancer, Susceptibility To, 1

OVCAS1

Ovarian Cancer

Ovarian Carcinoma

Malignant Neoplasm Of Ovary

Epithelial Ovarian Cancer

Breast-Ovarian Cancer, Familial 1

BROVCA1

Breast-Ovarian Cancer, Familial, Susceptibility To, 1

Breast-Ovarian Cancer, Familial, 1

Brca2 Hereditary Breast And Ovarian Cancer Syndrome

Hboc1

Brca1 Hereditary Breast And Ovarian Cancer Syndrome

Familial Susceptibility To Breast-Ovarian Cancer 1

Brovca2

Familial Susceptibility To Breast-Ovarian Cancer 2

Hboc

Breast Cancer Familial 1

Ovarian Cancer Familial 1

Cancer, Breast-Ovarian, Familial, Susceptibility To, Type 1

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Cancer Of The Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary

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

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Inherited Cancer-Predisposing Syndrome

Hereditary Cancer-Predisposing Syndrome

Bap1 Tumor Predisposition Syndrome

Bap1-Related Tumor Predisposition Syndrome

Common Syndrome

Bap1 Cancer Syndrome

Bap1-Tpds

Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms

Tumor Predisposition Syndrome

Tumor Susceptibility Linked To Germline Bap1 Mutations

Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms

Tumor Predisposition

Familial Ovarian Cancer

Familial Ovarian Carcinoma

Familial Ovarian Malignant Tumor

Premature Menopause

Primary Ovarian Insufficiency

Premature Ovarian Failure

Hypergonadotropic Hypogonadism

Premature Ovarian Insufficiency

Menopause - Premature

Menopause Praecox

Menopause Premature

Menopause, Premature

Female Hypergonadotropic Hypogonadism

Hypergonadotrophic Ovarian Failure

Primary Female Hypogonadism

Pof - [Premature Ovarian Failure]

Ovarian Failure

Ovarian Secretion Suppression

Ovary Hyposecretion

Ovary Secretion Deficiency

Premature Menopause Nos

Fallopian Tube Carcinoma

Fallopian Tube Cancer

Cancer Of The Fallopian Tube

Carcinoma Of Fallopian Tube

Neoplasm Of Fallopian Tube

Fallopian Tube Neoplasms

Fallopian Tube Ca

Fallopian Tube Neoplasm

Malignant Neoplasm Of Uterine Tube

Malignant Tumor Of Fallopian Tube

Malignant Tumour Of Fallopian Tube

Tumor Of The Fallopian Tube

Tumor, Fallopian Tube, Malignant

Malignant Tumor Of Fallopian Tubes

Cancer Of Fallopian Tubes

Malignant Tubal Tumor

Tubal Cancer

Malignant Neoplasm Of Fallopian Tube

Primary Malignant Neoplasm Of Fallopian Tube

Cancer Of The Oviduct

Mulibrey Nanism

MUL

Muscle-Liver-Brain-Eye Nanism

Pericardial Constriction And Growth Failure

Perheentupa Syndrome

Mulibrey Growth Disorder

Mulibrey Nanism Syndrome

Pericardial Constriction With Growth Failure

Nanism Mulibrey

Diffuse Gastric And Lobular Breast Cancer Syndrome

Hereditary Diffuse Gastric Cancer

HDGC

LBC

Familial Diffuse Gastric Cancer

Fdgc

Hereditary Diffuse Gastric Adenocarcinoma

Breast Cancer, Lobular

Gastric Cancer, Familial Diffuse, And Cleft Lip With Or Without Cleft Palate

DGLBC

Gastric Cancer, Hereditary Diffuse

Gastric Cancer, Familial Diffuse Breast Cancer, Lobular

Diffuse Gastric And Lobular Breast Cancer Syndrome With Or Without Cleft Lip And/Or Palate

E-Cadherin-Associated Hereditary Gastric Cancer

Familial Diffuse Cancer Of Stomach

Hereditary Diffuse Cancer Of Stomach

Gastric Cancer Familial Diffuse

Gastric Cancer Familial Diffuse And Cleft Lip With Or Without Cleft Palate

Cancer, Gastric, Hereditary Diffuse

Diffuse Gastric Cancer

Hereditary Diffuse Gastric Adenocarcinoma

Hereditary Diffuse Gastric Cancer

Signet Cell Adenocarcinoma

Signet Ring Cell Carcinoma

Signet Ring Cell Gastric Carcinoma

Signet Ring Gastric Carcinoma

Fdgc

Familial Diffuse Cancer Of Stomach

Familial Diffuse Gastric Cancer

Gastric Cancer, Familial Diffuse

Gastric Cancer, Hereditary Diffuse

Hdgc

Hereditary Diffuse Cancer Of Stomach

Diffuse Gastric Cancer Syndrome

Cancer, Gastric, Diffuse

Carcinoma, Signet Ring Cell

Gastric Signet Ring Carcinoma

Fanconi Anemia, Complementation Group D1

Fanconi Anemia Complementation Group D1

FANCD1

Fad1

Inherited Cancer-Predisposing Syndrome Due To Biallelic Brca2 Mutations

Fallopian Tube Disease

Fallopian Tube Diseases

Rete Ovarii Adenocarcinoma

Adenocarcinoma Of Rete Ovarii

Bilateral Breast Cancer

Bilateral Breast Carcinoma

Cervix Melanoma
Peritoneum Cancer

Peritoneal Neoplasm

Cancer Of Peritoneum

Malignant Tumor Of Peritoneum

Peritoneal Neoplasms

Fanconi-Like Syndrome

Fanconi Like Syndrome

Sporadic Breast Cancer

Sporadic Breast Carcinoma

Mirror Movements 1

Congenital Mirror Movement Disorder

Bimanual Synergia

Congenital Mirror Movements

Familial Congenital Controlateral Synkinesia

Familial Congenital Mirror Movements

Hereditary Congenital Controlateral Synkinesia

Hereditary Congenital Mirror Movements

Isolated Congenital Controlateral Synkinesia

Isolated Congenital Mirror Movements

Mirror Movements

MRMV1

Mirror Movements 1 And/Or Agenesis Of The Corpus Callosum

Mirror Movements, Congenital

Bimanual Synkinesis

Cmm

Mirror Movements, Type 1

Fallopian Tube Endometrioid Adenocarcinoma

Endometrioid Carcinoma Of The Fallopian Tube

Fallopian Tube Endometrioid Cancer

Fallopian Tube Endometrioid Neoplasm

Fallopian Tube Endometrioid Tumor

Lynch Syndrome

Hereditary Nonpolyposis Colon Cancer

Hereditary Nonpolyposis Colorectal Cancer

Hereditary Nonpolyposis Colorectal Carcinoma

Hereditary Nonpolyposis Colorectal Neoplasms

Familial Nonpolyposis Colon Cancer

Hnpcc

Coca 1

Hereditary Defective Mismatch Repair Syndrome

Hereditary Non-Polyposis Colon Cancer

Hereditary Non-Polyposis Colon Cancer Syndrome

Hereditary Non-Polyposis Colorectal Cancer

Hereditary Non-Polyposis Colorectal Cancer Syndrome

Hereditary Nonpolyposis Colon Cancer Syndrome

Hereditary Nonpolyposis Colorectal Cancer Syndrome

Hereditary Nonpolyposis Colorectal Neoplasm

Hnpcc - Hereditary Nonpolyposis Colon Cancer

Cancer Family Syndrome

Familial Nonpolyposis Colorectal Cancer

Colon Cancer, Familial Nonpolyposis

Colorectal Neoplasms, Hereditary Nonpolyposis

Cancer, Colorectal, Nonpolyposis, Hereditary

Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Li-Fraumeni Syndrome

Sarcoma Family Syndrome Of Li And Fraumeni

Sbla Syndrome

LFS

Li-Fraumeni Familiar Cancer Susceptibility Syndrome

Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome

Lfs1

Li Fraumeni Syndrome

Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome

Lfl

Sbla Syndrome Li-Fraumeni-Like Syndrome

Li-Fraumeni Syndrome 1

Serous Cystadenocarcinoma

Serous Adenocarcinoma

Cystadenocarcinoma, Serous

Serous Carcinoma

Cystadenocarcinoma Serous

Cowden Syndrome

Cowden Disease

Multiple Hamartoma Syndrome

Cowden'S Disease

Lhermitte-Duclos Disease

Cd

Cs

Mham

Dysplastic Gangliocytoma Of Cerebellum

Cowden'S Syndrome

Hamartoma Syndrome, Multiple

Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos

Nijmegen Breakage Syndrome

Berlin Breakage Syndrome

NBS

Microcephaly, Normal Intelligence And Immunodeficiency

Ataxia-Telangiectasia Variant

Ataxia-Telangiectasia Variant V1

Seemanova Syndrome Ii

Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome

Seemanova Syndrome Type 2

At-V1

Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies

Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence

Immunodeficiency, Microcephaly, And Chromosomal Instability

Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome

Microcephaly Immunodeficiency Lymphoreticuloma

Microcephaly With Normal Intelligence Immunodeficiency And Lymphoreticular Malignancies

Nonsyndromal Microcephaly Autosomal Recessive With Normal Intelligence

Seemanova Syndrome 2

Ataxia-Telangiectasia Variant 1

Seemanova Syndrome

At V1

Ataxia-Telangiectasia, Variant 1

Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome

V-At

Ataxia Telangiectasia Variant V1

Physical Disorder

Physical Illness

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 RAD51C VGNC VGNC:33686
Macaca mulatta RAD51C VGNC VGNC:76646
Canis familiaris RAD51C VGNC VGNC:45319
Rattus norvegicus RAD51C RGD RGD:1563765
Felis catus RAD51C VGNC VGNC:69216
Mus musculus RAD51C MGD MGI:2150020