1. Gene
  2. FANCE - FA complementation group E Gene

FANCE - FA complementation group E Gene

中文名称:FA 互补组 E

种属: Homo sapiens

同用名: FAE; FACE

基因 ID: 2178 | 基因类型: protein coding

关于 FANCE

Cytogenetic location: 6p21.31 Genomic coordinates (GRCh38): 6:35,452,338-35,467,102 (from NCBI)

This gene has 8 transcripts (splice variants), 190 orthologues and is associated with 52 phenotypes. Broad expression in placenta (RPKM 5.1), testis (RPKM 5.0) and 24 other tissues.

功能概要

范可尼贫血互补组 (FANC) 目前包括 FANCA、FANCB、FANCC、FANCD1 (也称为 BRCA2) 、FANCD2、FANCE、FANCF、FANCG、FANCI、FANCJ (也称为 BRIP1) 、FANCL、FANCM 和 FANCN (也称为 PALB2) .先前定义的组 FANCH 与 FANCA 相同。范可尼贫血是一种遗传异质性隐性疾病,其特征是细胞遗传学不稳定、对 DNA 交联剂过敏、染色体断裂增加和 DNA 修复缺陷。 Fanconi 贫血互补组的成员不具有序列相似性;它们通过组装成一个共同的核蛋白复合物而相关。该基因编码互补组 E 的蛋白质。[RefSeq 提供,2008 年 7 月]

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group E. [provided by RefSeq, Jul 2008]

FANCE 基因产物(2)

mRNA Protein Name
NM_001410876.1 NP_001397805.1 Fanconi anemia group E protein isoform 2
NM_021922.3 NP_068741.1 Fanconi anemia group E protein isoform 1
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
12649160 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of Fanconi anaemia nuclear complex IDA
IDA: 通过直接分析推断
20347428 GOA
located in chromatin IDA
IDA: 通过直接分析推断
22343915 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

FANCE 蛋白结构

FA_FANCE

FA_FANCE: Fanconi Anaemia group E protein FANCE (273 - 535)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 536 a.a.
蛋白主名 其他名称

Fanconi anemia group E protein

Fanconi anemia complementation group E

FANCE 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
FANCE Q9HB96 FANCC Homo sapiens Q00597
Y2H
11157805
种属内
FANCE Q9HB96 FANCC Homo sapiens Q00597 12093742
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
Fanconi Anemia, Complementation Group E

Fanconi Anemia Complementation Group E

FANCE

Face

Faces Syndrome

Pancreatic Cancer

Pancreatic Carcinoma

Carcinoma Of Pancreas

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Cancer Of The Pancreas

Pancreatic Carcinoma, Somatic

Pancreatic Cancer, Somatic

Ca Body Of Pancreas

Ca Head Of Pancreas

Ca Tail Of Pancreas

Malignant Neoplasm Of Body Of Pancreas

Malignant Neoplasm Of Head Of Pancreas

Malignant Neoplasm Of Tail Of Pancreas

Pancreas Neoplasm

Exocrine Cancer

Exocrine Pancreas Carcinoma

Hereditary Pancreatic Cancer

Hereditary Pancreatic Carcinoma

PNCA

Pancreatic Cancer, Susceptibility To

Carcinoma Of Head Of Pancreas

Pancreatic Neoplasms

Pancreatic Tumors

Cancer, Pancreatic

Cancer Of Pancreas

Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

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

Fanconi Anemia, Complementation Group O

Fanconi Anemia Complementation Group O

FANCO

Fanconi Anemia, Complementation Group B

Fanconi Anemia Complementation Group B

FANCB

Facb

Fa2

Fanconi Pancytopenia Type 2

Fanconi Pancytopenia, Type 2

Colorectal Cancer, Hereditary Nonpolyposis, Type 4

HNPCC4

Hereditary Nonpolyposis Colorectal Cancer Type 4

Hereditary Non-Polyposis Colorectal Cancer 4

Cancer, Colorectal, Nonpolyposis, Hereditary, Type 4

Fanconi Anemia, Complementation Group Q

Fanconi Anemia Complementation Group Q

FANCQ

Familial Adenomatous Polyposis 1

Gardner Syndrome

Brain Tumor-Polyposis Syndrome 2

Familial Polyposis Of The Colon

Adenomatous Polyposis Coli

FAP1

Adenomatous Polyposis Of The Colon

Apc

Fpc

Gardner'S Syndrome

Polyposis, Adenomatous Intestinal

Adenoma, Periampullary, Somatic

Intestinal Polyposis, Osteomas, Sebaceous Cysts

Polyposis Coli And Multiple Hard And Soft Tissue Tumors

Apc-Related Attenuated Familial Adenomatous Polyposis

Apc-Related Afap

Apc-Related Attenuated Fap

Apc-Related Attenuated Familial Polyposis Coli

Turcot Syndrome With Polyposis

Gardners Syndrome

Adenomatous Polyposis Coli, Susceptibility To

Adenomatous Polyposis, Familial, Type 1

Fanconi Anemia, Complementation Group D1

Fanconi Anemia Complementation Group D1

FANCD1

Fad1

Inherited Cancer-Predisposing Syndrome Due To Biallelic Brca2 Mutations

Fanconi Anemia, Complementation Group F

Fanconi Anemia Complementation Group F

FANCF

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

Deficiency Anemia

Anemia

Deficiency Anemias

Anaemia

Fanconi Anemia, Complementation Group I

Fanconi Anemia Complementation Group I

FANCI

Squamous Cell Carcinoma, Head And Neck

Squamous Cell Carcinoma Of The Head And Neck

HNSCC

Head And Neck Squamous Cell Carcinoma

Squamous Cell Carcinoma Of Lip

Squamous Cell Carcinoma, Head And Neck, Somatic

Carcinoma Of The Head And Neck

Squamous Cell Carcinomas Of Head And Neck

Scchn

Squamous Cell Carcinoma Of The Hypopharynx

Squamous Cell Carcinoma Of The Oropharynx

Squamous Cell Carcinoma Of Salivary Glands

Squamous Cell Carcinoma Of The Nasal Cavity And Paranasal Sinuses

Squamous Cell Carcinoma Of The Nasal Cavity And Sinuses

Squamous Cell Carcinoma Of The Oral Cavity

Squamous Cell Carcinoma Of The Lip

Carcinoma, Squamous Cell Of Head And Neck

Lip Squamous Cell Carcinoma

Carcinoma, Squamous Cell, Head And Neck

Salivary Gland Squamous Cell Carcinoma

Cancer Of Head And Neck

Squamous Cell Carcinoma Of Oropharynx Nos

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

Physical Disorder

Physical Illness

Seckel Syndrome

Microcephalic Primordial Dwarfism

Bird-Headed Dwarfism

Harper'S Syndrome

Virchow-Seckel Dwarfism

Nanocephalic Dwarfism

Sckl

Seckel-Type Dwarfism

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

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
Macaca mulatta FANCE VGNC VGNC:72610
Bos taurus FANCE VGNC VGNC:28856
Rattus norvegicus FANCE RGD RGD:1561045
Canis familiaris FANCE VGNC VGNC:40720
Felis catus FANCE VGNC VGNC:62143
Mus musculus FANCE MGD MGI:1920025