You are using an outdated browser. Please upgrade your browser to improve your experience.

Tbio
AFF1
AF4/FMR2 family member 1

Protein Summary
Description
This gene encodes a member of the AF4/ lymphoid nuclear protein related to the Fragile X E syndrome (FRAXE) family of proteins, which have been implicated in human childhood lymphoblastic leukemia, fragile chromosome X intellectual disability, and ataxia. It is the prevalent mixed-lineage leukemia fusion gene associated with spontaneous acute lymphoblastic leukemia. Members of this family have three conserved domains: an N-terminal homology domain, an AF4/ lymphoid nuclear protein domain, and a C-terminal homology domain. The protein functions as a regulator of RNA polymerase II-mediated transcription through elongation and chromatin remodeling functions. Through RNA interference screens, this gene has been shown to promote the expression of CD133, a plasma membrane glycoprotein required for leukemia cell survival. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000307808
  • ENSP00000305689
  • ENSG00000172493
  • ENST00000395146
  • ENSP00000378578

Symbol
  • AF4
  • FEL
  • MLLT2
  • PBM1
  • AF4
  • PBM1
  • MLLT2
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
transcription factor binding site profile
0.96
transcription factor perturbation
0.8
microRNA
0.76
virus perturbation
0.72
drug perturbation
0.71


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: 1097.26   (req: < 5)
Gene RIFs: 37   (req: <= 3)
Antibodies: 243   (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: 1097.26   (req: >= 5)
Gene RIFs: 37   (req: > 3)
Antibodies: 243   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 2
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
Expression Data (0 Tissues)
No expression data found
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
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.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (76)
ELL3
Tbio
Family:  Enzyme
Novelty:  0.18245631
p_int:  0.99999933
p_ni:  9e-9
p_wrong:  6.6e-7
Score:  0.92
Data Source:  BioPlex,STRINGDB
PIP4K2A
Tbio
Family:  Kinase
Novelty:  0.01130885
p_int:  0.999999012
p_ni:  9.88e-7
Score:  0.309
Data Source:  BioPlex,STRINGDB
EAF1
Tbio
Novelty:  0.81120425
p_int:  0.999998756
p_ni:  0.000001244
Score:  0.913
Data Source:  BioPlex,STRINGDB
CDK9
Tchem
Family:  Kinase
Novelty:  0.00210218
p_int:  0.999997628
p_ni:  0.000001246
p_wrong:  0.000001126
Score:  0.875
Data Source:  BioPlex,STRINGDB
CAMKV
Tbio
Family:  Kinase
Novelty:  0.17794181
p_int:  0.999996742
p_ni:  0.000003258
Score:  0.22
Data Source:  BioPlex,STRINGDB
EPB41L3
Tbio
Novelty:  0.00915217
p_int:  0.999926662
p_ni:  0.000071592
p_wrong:  0.000001747
Data Source:  BioPlex
EPB41L1
Tbio
Novelty:  0.02937451
p_int:  0.99982011
p_ni:  0.000131585
p_wrong:  0.000048305
Data Source:  BioPlex
MLLT1
Tchem
Novelty:  0.00328241
Score:  0.947
Data Source:  STRINGDB
MLLT3
Tchem
Novelty:  0.00361056
Score:  0.915
Data Source:  STRINGDB
ELL2
Tbio
Family:  Enzyme
Novelty:  0.040736
Score:  0.88
Data Source:  STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Viral Interactions (0)
No viral interactions found
Disease Associations (null)
No disease associations found
GWAS Traits (33)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
triglyceride measurement
16
12
23
2.3
98.8
hemoglobin measurement
5
4
5
97.4
hematocrit
5
4
5
97.2
basophil count
4
4
4
96
heel bone mineral density
3
4
5
95.2
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
triglyceride measurement
23
2.3
98.8
hemoglobin measurement
5
97.4
hematocrit
5
97.2
basophil count
4
96
heel bone mineral density
5
95.2
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (11)
1 – 5 of 11
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
AF4/FMR2 family member 1
VGNC:2949
461362
Macaque
AF4/FMR2 family member 1
700733
Mouse
MGI:1100819
17355
Rat
RGD:1307940
305152
Dog
AF4/FMR2 family member 1
VGNC:37686
100683405
Species
Name
OMA
EggNOG
Inparanoid
Chimp
AF4/FMR2 family member 1
Macaque
AF4/FMR2 family member 1
Mouse
Rat
Dog
AF4/FMR2 family member 1
Publication Statistics
PubMed Score 1097.26
PubMed score by year
PubTator Score 325.14
PubTator score by year
loading...
Related Publications
Items per page:
0 of 0
PMID
Year
Title