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Tbio
FANCE
Fanconi anemia group E protein

Protein Summary
Description
As part of the Fanconi anemia (FA) complex functions in DNA cross-links repair. Required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000229769
  • ENSP00000229769
  • ENSG00000112039

Symbol
  • FACE
  • FAE
  • FACE
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
histone modification site profile
0.85
cell type or tissue
0.81
small molecule perturbation
0.66
cell line
0.59
kinase perturbation
0.54


Related Tools
Target Illumination GWAS Analytics (TIGA)
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TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
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GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 17.07   (req: < 5)
Gene RIFs: 11   (req: <= 3)
Antibodies: 170   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 17.07   (req: >= 5)
Gene RIFs: 11   (req: > 3)
Antibodies: 170   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Term: 1
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (14)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
BMI-adjusted hip circumference
2
12
13
95.9
heel bone mineral density
2
4
5
85.3
platelet count
1
1
1
72.5
birth weight
2
2
2
68.2
body height
4
3
3
6.8
67.3
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
BMI-adjusted hip circumference
13
95.9
heel bone mineral density
5
85.3
platelet count
1
72.5
birth weight
2
68.2
body height
3
6.8
67.3
Orthologs (9)
1 – 5 of 9
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
Fanconi anemia complementation group E
VGNC:2827
747546
Macaque
Fanconi anemia complementation group E
718889
Rat
RGD:1561045
309643
Dog
FA complementation group E
VGNC:40720
100856274
Horse
FA complementation group E
VGNC:17902
100063042
Species
Name
OMA
EggNOG
Inparanoid
Chimp
Fanconi anemia complementation group E
Macaque
Fanconi anemia complementation group E
Rat
Dog
FA complementation group E
Horse
FA complementation group E
Protein Structure (1 Structure, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-Q9HB96-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 1 of 1
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (5)
DNA Repair (R-HSA-73894)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 2 of 2
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
DNA Repair
Reactome
Fanconi Anemia Pathway
Name
Explore in Pharos
Explore in Source
DNA Repair
Fanconi Anemia Pathway
Gene Ontology Terms (4)
Items per page:
10
1 – 3 of 3
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Traceable Author Statement (TAS)
Reactome
Non-traceable Author Statement (NAS)
UniProtKB
Protein-Protein Interactions (87)
1 – 10 of 87
GPC1
Tbio
Novelty:  0.00293087
p_int:  0.997813997
p_ni:  0.002185393
p_wrong:  6.1e-7
Score:  0.188
Data Source:  BioPlex,STRINGDB
RAB21
Tbio
Family:  Enzyme
Novelty:  0.03221825
p_int:  0.995884564
p_ni:  0.004115394
p_wrong:  4.1e-8
Score:  0.188
Data Source:  BioPlex,STRINGDB
ENPP1
Tchem
Family:  Enzyme
Novelty:  0.00256132
p_int:  0.953626917
p_ni:  0.046373083
p_wrong:  1e-9
Score:  0.214
Data Source:  BioPlex,STRINGDB
GNPAT
Tchem
Family:  Enzyme
Novelty:  0.01255689
p_int:  0.933370959
p_ni:  0.066629041
Score:  0.169
Data Source:  BioPlex,STRINGDB
PI4K2A
Tbio
Family:  Kinase
Novelty:  0.03506675
p_int:  0.865781036
p_ni:  0.075004352
p_wrong:  0.059214612
Score:  0.187
Data Source:  BioPlex,STRINGDB
GNA13
Tbio
Novelty:  0.04149138
p_int:  0.8360013
p_ni:  0.163998697
p_wrong:  3e-9
Score:  0.187
Data Source:  BioPlex,STRINGDB
FANCF
Tchem
Novelty:  0.01745498
Score:  0.999
Data Source:  STRINGDB
FANCA
Tbio
Novelty:  0.00324947
Score:  0.999
Data Source:  STRINGDB
HES1
Tbio
Family:  TF
Novelty:  0.00974115
Score:  0.999
Data Source:  STRINGDB
FAAP20
Tbio
Novelty:  0.15112645
Score:  0.999
Data Source:  STRINGDB
Publication Statistics
PubMed Score  17.07

PubMed score by year
PubTator Score  46.85

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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