FANCE - FA complementation group E Gene

Also Known as FAE; FACE

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2178

About 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.

Summary

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 Products (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
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
12649160 GOA
Cellular Component GO Annotation Evidence References Source
part of Fanconi anaemia nuclear complex IDA
IDA: Inferred from direct assay
20347428 GOA
located in chromatin IDA
IDA: Inferred from direct assay
22343915 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FANCE Protein Structure

FA_FANCE

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

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 536 a.a.
Protein Preferred Names Protein Names

Fanconi anemia group E protein

  • Fanconi anemia complementation group E

FANCE Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
FANCE Q9HB96 FANCC Homo sapiens Q00597
Y2H
11157805
Intra
FANCE Q9HB96 FANCC Homo sapiens Q00597 12093742
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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

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
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
Others FANCE NCBI