| Gene Symbol | FANCE |
| Entrez ID | 2178 |
| Uniprot ID | Q9HB96 |
| Description | Fanconi anemia complementation group E |
| Chromosomal Location | chr6: 35,452,361-35,467,103 |
| Ontology | GO ID | GO Term | Definition | Evidence |
|---|---|---|---|---|
|
BP |
GO:0036297 |
interstrand cross-link repair |
Removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication. |
TAS |
|
CC |
GO:0005634 |
nucleus |
A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
NAS |
|
CC |
GO:0005654 |
nucleoplasm |
That part of the nuclear content other than the chromosomes or the nucleolus. |
TAS |
|
CC |
GO:0043240 |
Fanconi anaemia nuclear complex |
A protein complex composed of the Fanconi anaemia (FA) proteins including A, C, E, G and F (FANCA-F). Functions in the activation of the downstream protein FANCD2 by monoubiquitylation, and is essential for protection against chromosome breakage. |
IDA |
|
MF |
GO:0003674 |
molecular_function |
Elemental activities, such as catalysis or binding, describing the actions of a gene product at the molecular level. A given gene product may exhibit one or more molecular functions. |
ND |
| Domain ID | Description |
|---|---|
|
IPR021025 |
Fanconi Anaemia group E protein, C-terminal |
| Pathway ID | Pathway Term | Pathway Source |
|---|---|---|
|
hsa03460 |
Fanconi anemia pathway |
KEGG |
|
h_bard1Pathway |
BRCA1-dependent Ub-ligase activity |
BioCarta |
|
h_atrbrcaPathway |
Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility |
BioCarta |
| UMLS CUI | UMLS Term |
|---|---|
|
C0015625 |
Fanconi Anemia |
| Tissue | Cell Type |
|---|---|
|
adrenal gland |
glandular cells |
|
appendix |
glandular cells |
|
appendix |
lymphoid tissue |
|
bone marrow |
hematopoietic cells |
|
bronchus |
respiratory epithelial cells |
|
caudate |
glial cells |
|
cerebellum |
cells in molecular layer |
|
cerebral cortex |
glial cells |
|
cerebral cortex |
neuronal cells |
|
cervix, uterine |
glandular cells |
|
cervix, uterine |
squamous epithelial cells |
|
colon |
endothelial cells |
|
colon |
glandular cells |
|
colon |
peripheral nerve/ganglion |
|
duodenum |
glandular cells |
|
esophagus |
squamous epithelial cells |
|
fallopian tube |
glandular cells |
|
gallbladder |
glandular cells |
|
kidney |
cells in glomeruli |
|
lung |
macrophages |
|
lung |
pneumocytes |
|
lymph node |
germinal center cells |
|
lymph node |
non-germinal center cells |
|
nasopharynx |
respiratory epithelial cells |
|
oral mucosa |
squamous epithelial cells |
|
pancreas |
exocrine glandular cells |
|
placenta |
decidual cells |
|
placenta |
trophoblastic cells |
|
rectum |
glandular cells |
|
salivary gland |
glandular cells |
|
skeletal muscle |
myocytes |
|
skin |
epidermal cells |
|
small intestine |
glandular cells |
|
smooth muscle |
smooth muscle cells |
|
soft tissue |
chondrocytes |
|
soft tissue |
fibroblasts |
|
soft tissue |
adipocytes |
|
soft tissue |
peripheral nerve |
|
stomach |
glandular cells |
|
testis |
cells in seminiferous ducts |
|
testis |
Leydig cells |
|
thyroid gland |
glandular cells |
|
tonsil |
germinal center cells |
|
tonsil |
squamous epithelial cells |
|
urinary bladder |
urothelial cells |
|
vagina |
squamous epithelial cells |
| Pubmed ID | Author | Year | Title |
|---|---|---|---|
|
22951915 |
Haozi et al. |
2012 |
Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome |
| Gene Symbol | Entrez ID | Uniprot ID | Score |
|---|---|---|---|
|
FANCD2 |
2177 |
Q9BXW9 |
0.89 |
|
FANCC |
2176 |
Q00597 |
0.90 |
|
CHEK1 |
1111 |
O14757 |
0.52 |
|
ELAVL1 |
1994 |
Q15717 |
0.63 |
|
PCNA |
5111 |
P12004 |
0.63 |
|
FAAP100 |
80233 |
Q0VG06 |
0.63 |
|
STRA13 |
201254 |
A8MT69 |
0.63 |
|
APITD1 |
378708 |
Q8N2Z9 |
0.63 |
|
BRCA2 |
675 |
P51587 |
0.73 |
|
HES1 |
3280 |
Q14469 |
0.73 |
|
FAAP20 |
199990 |
Q6NZ36 |
0.73 |
|
FANCM |
57697 |
Q8IYD8 |
0.83 |
|
FANCF |
2188 |
Q9NPI8 |
0.89 |
|
FANCA |
2175 |
O15360 |
0.90 |
|
FANCG |
2189 |
O15287 |
0.90 |