Tbio AFF4 AF4/FMR2 family member 4

Protein Summary

Description

Key component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. In the SEC complex, AFF4 acts as a central scaffold that recruits other factors through direct interactions with ELL proteins (ELL, ELL2 or ELL3) and the P-TEFb complex. In case of infection by HIV-1 virus, the SEC complex is recruited by the viral Tat protein to stimulate viral gene expression. The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011]

Uniprot Accession IDs

• Q9UHB7
• B2RP19
• B7WPD2
• Q498B2
• Q59FB3
• Q6P592
• Q8TDR1
• Q9P0E4

Gene Name

• AFF4

Ensembl ID

• ENST00000265343
• ENSP00000265343
• ENSG00000072364
• ENST00000378595
• ENSP00000367858

Symbol

• AF5Q31
• MCEF
• MCEF
• CHOPS
• AF5Q31

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
drug perturbation	0.99
transcription factor binding site profile	0.87
transcription factor perturbation	0.84
cell type or tissue	0.77
microRNA	0.77

Protein Classes

PANTHER Classes

Protein / Transcription Factor / Af4/fmr2 Family Member 4

DTO Classes

Protein / Transcription Factor / Af4/fmr2 Family Member 4

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: 56.09   (req: < 5)

Gene RIFs: 14   (req: <= 3)

Antibodies: 228   (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: 56.09   (req: >= 5)

Gene RIFs: 14   (req: > 3)

Antibodies: 228   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 5

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

Protein Sequence and Structure

Residue Counts

Protein Sequence

Find Targets by Sequence

Show Full Sequence

ProtVista Viewer

Expression Data (0 Tissues)

tutorial

No expression data found

Related Tools

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

Go To Tool

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.

Go To Tool

GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

Go To Tool

ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

Go To Tool

Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (121)

Explore Interacting Targets

1 – 10 of 121

• See Interactions on String-DB

ELL3

Tbio

Family:  Enzyme

Novelty:  0.18245631

p_int:  1

Score:  0.932

Data Source:  BioPlex,STRINGDB

PIP4K2A

Tbio

Family:  Kinase

Novelty:  0.01130885

p_int:  0.999999818

p_ni:  1.81e-7

p_wrong:  1e-9

Score:  0.232

Data Source:  BioPlex,STRINGDB

ELL2

Tbio

Family:  Enzyme

Novelty:  0.040736

p_int:  0.999999783

p_ni:  2.17e-7

Score:  0.996

Data Source:  BioPlex,STRINGDB

EAF1

Tbio

Novelty:  0.81120425

p_int:  0.999999622

p_ni:  3.78e-7

Score:  0.979

Data Source:  BioPlex,STRINGDB

CDK9

Tchem

Family:  Kinase

Novelty:  0.00210218

p_int:  0.999999437

p_ni:  5.63e-7

Score:  0.999

Data Source:  BioPlex,STRINGDB

CAMKV

Tbio

Family:  Kinase

Novelty:  0.17794181

p_int:  0.999997874

p_ni:  0.000002126

Data Source:  BioPlex

EAF2

Tbio

Family:  TF

Novelty:  0.08392419

p_int:  0.999996827

p_ni:  0.000003074

p_wrong:  9.9e-8

Score:  0.987

Data Source:  BioPlex,STRINGDB

EPB41L1

Tbio

Novelty:  0.02937451

p_int:  0.999991606

p_ni:  0.000008394

Data Source:  BioPlex

CCNT2

Tbio

Novelty:  0.04593314

p_int:  0.999987486

p_ni:  0.000012514

Score:  0.996

Data Source:  BioPlex,STRINGDB

ELL

Tbio

Family:  Enzyme

Novelty:  0.00424352

p_int:  0.99998586

p_ni:  0.00001414

Score:  0.996

Data Source:  BioPlex,STRINGDB

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (5)

Reactome (5)

Formation of RNA Pol II elongation complex (R-HSA-112382)

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

Find Similar Targets

Items per page:

5

1 – 5 of 5

Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Formation of RNA Pol II elongation complex	61 targets	R-HSA-112382
Reactome	Gene expression (Transcription)	1452 targets	R-HSA-74160
Reactome	RNA Polymerase II Pre-transcription Events	84 targets	R-HSA-674695
Reactome	RNA Polymerase II Transcription	1314 targets	R-HSA-73857
Reactome	RNA Polymerase II Transcription Elongation	61 targets	R-HSA-75955

Name	Explore in Pharos	Explore in Source
Formation of RNA Pol II elongation complex	61 targets	R-HSA-112382
Gene expression (Transcription)	1452 targets	R-HSA-74160
RNA Polymerase II Pre-transcription Events	84 targets	R-HSA-674695
RNA Polymerase II Transcription	1314 targets	R-HSA-73857
RNA Polymerase II Transcription Elongation	61 targets	R-HSA-75955

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (11)

Functions (2)

Components (6)

Processes (3)

Find Similar Targets

Items per page:

10

1 – 2 of 2

GO Term	Evidence	Assigned by
DNA-binding transcription factor activity	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
double-stranded DNA binding	Inferred from Biological aspect of Ancestor (IBA)	GO_Central

Disease Associations ()

No disease associations found

GWAS Traits (18)

• Explore on Target Illumination GWAS Analytics (TIGA)

Items per page:

5

1 – 5 of 18

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
IGF-1 measurement	EFO_0004627	1	2	2		80
monocyte count	EFO_0005091	1	1	1		78.6
glomerular filtration rate	EFO_0005208	3	2	3		76.7
waist-hip ratio	EFO_0004343	3	4	4		75.4
waist circumference	EFO_0004342	1	3	3		73.8

• Explore on Target Illumination GWAS Analytics (TIGA)

Items per page:

5

1 – 5 of 18

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
IGF-1 measurement	EFO_0004627	2		80
monocyte count	EFO_0005091	1		78.6
glomerular filtration rate	EFO_0005208	3		76.7
waist-hip ratio	EFO_0004343	4		75.4
waist circumference	EFO_0004342	3		73.8

Reset Zoom  Beta Count   Odds Ratio

Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Acetylation
Alternative splicing
Chromosomal rearrangement
Complete proteome
Direct protein sequencing
Disease mutation
Dwarfism
Isopeptide bond
Nucleus

GWAS Trait Find Similar Targets

No Header	No Header
alcohol consumption measurement
alcohol use disorder measurement
BMI-adjusted waist circumference
BMI-adjusted waist-hip ratio
body height
C-reactive protein measurement
creatinine measurement
diastolic blood pressure
glomerular filtration rate
heel bone mineral density

MGI Phenotype Find Similar Targets

No Header	No Header
behavior/neurological phenotype
cellular phenotype
embryo phenotype
endocrine/exocrine gland phenotype
growth/size/body region phenotype
mortality/aging
reproductive system phenotype
respiratory system phenotype

IDG Resources

No IDG generated resources found

Orthologs (12)

1 – 5 of 12

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	AF4/FMR2 family member 4	VGNC:3897	107974861
Macaque	AF4/FMR2 family member 4		709137
Mouse	AF4/FMR2 family, member 4	MGI:2136171	93736
Rat	AF4/FMR2 family, member 4	RGD:1311694	303132
Dog	AF4/FMR2 family member 4	VGNC:37688	474678

Species	Name	OMA	EggNOG	Inparanoid
Chimp	AF4/FMR2 family member 4
Macaque	AF4/FMR2 family member 4
Mouse	AF4/FMR2 family, member 4
Rat	AF4/FMR2 family, member 4
Dog	AF4/FMR2 family member 4

Publication Statistics

PubMed Score 56.09

PubMed score by year

Reset Zoom

PubTator Score 22.49

PubTator score by year

Reset Zoom

Related Publications

Text Mined References (27)

GeneRif Annotations (14)

Items per page:

10

0 of 0

PMID	Year	Title