FANCE - FA complementation group E Gene
Also Known as FAE; FACE
Species: Homo sapiens
About FANCE
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 |
FANCE Protein Structure
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 |
|
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 | 11157805 | |
|
Intra
|
FANCE | Q9HB96 | FANCC | Homo sapiens | Q00597 | 12093742 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Fanconi Anemia, Complementation Group E |
|
|
| Pancreatic Cancer |
|
|
| Fanconi Anemia, Complementation Group A |
|
|
| Fanconi Anemia, Complementation Group O |
|
|
| Fanconi Anemia, Complementation Group B |
|
|
| Colorectal Cancer, Hereditary Nonpolyposis, Type 4 |
|
|
| Fanconi Anemia, Complementation Group Q |
|
|
| Familial Adenomatous Polyposis 1 |
|
|
| Fanconi Anemia, Complementation Group D1 |
|
|
| Fanconi Anemia, Complementation Group F |
|
|
| Colorectal Cancer |
|
|
| Deficiency Anemia |
|
|
| Fanconi Anemia, Complementation Group I |
|
|
| Squamous Cell Carcinoma, Head And Neck |
|
|
| Aplastic Anemia |
|
|
| Physical Disorder |
|
|
| Seckel Syndrome |
|
|
| Hereditary Breast Ovarian Cancer Syndrome |
|
|
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 |