Aliases for AFF4 Gene
Aliases for AFF4 Gene
External Ids for AFF4 Gene
- HGNC: 17869
- Entrez Gene: 27125
- Ensembl: ENSG00000072364
- OMIM: 604417
- UniProtKB: Q9UHB7
Previous GeneCards Identifiers for AFF4 Gene
- GC05M132243
- GC05M132211
- GC05M127403
Summaries for AFF4 Gene
-
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]
GeneCards Summary for AFF4 Gene
AFF4 (AF4/FMR2 Family Member 4) is a Protein Coding gene. Diseases associated with AFF4 include Chops Syndrome and Lymphoblastic Leukemia. Among its related pathways are Gene Expression and Formation of HIV elongation complex in the absence of HIV Tat. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding. An important paralog of this gene is AFF1.
UniProtKB/Swiss-Prot for AFF4 Gene
-
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.
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AFF4 Gene
Genomics for AFF4 Gene
Regulatory Elements for AFF4 Gene
Enhancers for AFF4 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around AFF4 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for AFF4 Gene
- Chromosome:
- 5
- Start:
- 132,875,379 bp from pter
- End:
- 132,963,662 bp from pter
- Size:
- 88,284 bases
- Orientation:
- Minus strand
Genomic View for AFF4 Gene
Genes around AFF4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5q31.1 by Ensembl
- 5q31.1 by Entrez Gene
- 5q31.1 by HGNC
AFF4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for AFF4 Gene
Proteins for AFF4 Gene
-
Protein details for AFF4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UHB7-AFF4_HUMAN
- Recommended name:
- AF4/FMR2 family member 4
- Protein Accession:
- Q9UHB7
- B2RP19
- B7WPD2
- Q498B2
- Q59FB3
- Q6P592
- Q8TDR1
- Q9P0E4
Protein attributes for AFF4 Gene
- Size:
- 1163 amino acids
- Molecular mass:
- 127459 Da
- Quaternary structure:
-
- Interacts with ELL3; the interaction is direct (By similarity). Interacts with ELL2; the interaction is direct and leads to stabilize ELL2 and prevent ELL2 ubiquitination and degradation. Component of the super elongation complex (SEC), at least composed of EAF1, EAF2, CDK9, MLLT3/AF9, AFF (AFF1 or AFF4), the P-TEFb complex and ELL (ELL, ELL2 or ELL3). Interacts with ELL.
- SequenceCaution:
-
- Sequence=AAI00288.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAD92784.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for AFF4 Gene
Protein Expression for AFF4 Gene
Post-translational modifications for AFF4 Gene
Other Protein References for AFF4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for AFF4
- Novus Biologicals Antibodies for AFF4
-
Abcam antibodies for AFF4
- Invitrogen Antibodies for AFF4
- antibodies-online Antibodies for AFF4: See all 57
- GeneTex AFF4 antibody for AFF4
-
Santa Cruz Biotechnology (SCBT) Antibodies for AFF4
Protein Products
-
OriGene Purified Proteins for AFF4
- Search Origene for MassSpec and Protein Over-expression Lysates for AFF4
- Origene Custom Protein Services for AFF4
- antibodies-online Proteins for AFF4: See all 4
- Search antibodies-online for peptides
- Search GeneTex for Proteins for AFF4
-
Abcam proteins for AFF4
Assay Products
- antibodies-online Kits for AFF4: See all 4
No data available for DME Specific Peptides for AFF4 Gene
Domains & Families for AFF4 Gene
Gene Families for AFF4 Gene
Protein Domains for AFF4 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for AFF4 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9UHB7- Family:
-
- Belongs to the AF4 family.
Function for AFF4 Gene
Molecular function for AFF4 Gene
- UniProtKB/Swiss-Prot Function:
- 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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003700 | transcription factor activity, sequence-specific DNA binding | TAS | 10588740 |
| GO:0005515 | protein binding | IPI | 20153263 |
Phenotypes for AFF4 Gene
- MGI mutant phenotypes for AFF4:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for AFF4:
Animal Models for AFF4 Gene
- MGI Knock Outs for AFF4:
-
- Aff4 tm1Nosa
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for AFF4
-
-
ViGene Biosciences lentiviral particle packaged cDNA for AFF4 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for AFF4 gene
- Search ViGene Biosciences for AFF4
CRISPR Products
-
OriGene CRISPR knockouts for AFF4
-
Santa Cruz Biotechnology (SCBT) CRISPR for AFF4
- GenScript: Design CRISPR guide RNA sequences for AFF4
miRNA for AFF4 Gene
- miRTarBase miRNAs that target AFF4
-
- hsa-mir-374b-5p (MIRT016084)
- hsa-mir-421 (MIRT016134)
- hsa-mir-335-5p (MIRT018533)
- hsa-mir-128-3p (MIRT022101)
- hsa-mir-101-3p (MIRT027364)
- hsa-mir-27a-3p (MIRT028734)
- hsa-mir-532-3p (MIRT037928)
- hsa-mir-18a-5p (MIRT050659)
- hsa-let-7b-5p (MIRT052066)
- hsa-mir-3156-5p (MIRT094974)
- hsa-mir-7161-3p (MIRT094978)
- hsa-mir-126-5p (MIRT094992)
- hsa-mir-466 (MIRT095001)
- hsa-mir-4789-3p (MIRT095005)
- hsa-mir-101-5p (MIRT095008)
- hsa-mir-548c-3p (MIRT165349)
- hsa-mir-519d-5p (MIRT243846)
- hsa-mir-4795-3p (MIRT243849)
- hsa-mir-5695 (MIRT243850)
- hsa-mir-513a-3p (MIRT311608)
- hsa-mir-513c-3p (MIRT311609)
- hsa-mir-3606-3p (MIRT311610)
- hsa-mir-425-5p (MIRT371252)
- hsa-mir-4659a-5p (MIRT391126)
- hsa-mir-4659b-5p (MIRT391127)
- hsa-mir-205-5p (MIRT441250)
- hsa-mir-142-3p (MIRT441251)
- ebv-mir-bart7-3p (MIRT441252)
- hsa-mir-4424 (MIRT482375)
- hsa-mir-642b-3p (MIRT482377)
- hsa-mir-642a-3p (MIRT482378)
- hsa-mir-936 (MIRT482379)
- hsa-mir-4776-3p (MIRT539359)
- hsa-mir-5590-5p (MIRT539360)
- hsa-mir-519e-5p (MIRT539361)
- hsa-mir-515-5p (MIRT539362)
- hsa-mir-4643 (MIRT539363)
- hsa-mir-302f (MIRT539364)
- hsa-mir-5006-3p (MIRT660845)
- hsa-mir-4755-5p (MIRT660846)
- hsa-mir-587 (MIRT660847)
- hsa-mir-211-5p (MIRT660848)
- hsa-mir-204-5p (MIRT660849)
- hsa-mir-623 (MIRT660850)
- hsa-mir-627-3p (MIRT660851)
- hsa-mir-6832-3p (MIRT660852)
- hsa-mir-3938 (MIRT660853)
- hsa-mir-30e-5p (MIRT728371)
- hsa-mir-30d-5p (MIRT728372)
- hsa-mir-30b-5p (MIRT728373)
- hsa-mir-30c-5p (MIRT728374)
- hsa-mir-30a-5p (MIRT728375)
- hsa-mir-27b-3p (MIRT728376)
- hsa-mir-181d-5p (MIRT728377)
- hsa-mir-181c-5p (MIRT728378)
- hsa-mir-181b-5p (MIRT728379)
- hsa-mir-181a-5p (MIRT728380)
- hsa-mir-195-5p (MIRT728381)
- hsa-mir-15b-5p (MIRT728382)
- hsa-mir-16-5p (MIRT728383)
- hsa-mir-15a-5p (MIRT728384)
miRNA Products
- Search ViGene Biosciences for AFF4
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for AFF4
- Browse OriGene Inhibitory RNA Products For AFF4
-
ViGene Biosciences ready-to-package AAV shRNAs for AFF4 gene
Clone Products
- Sino Biological Human cDNA Clone for AFF4
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for AFF4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AFF4
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for AFF4
-
ViGene Biosciences adenoviral particle packaged cDNA for AFF4 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for AFF4 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for AFF4 gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for AFF4 Gene
Localization for AFF4 Gene
Subcellular locations from UniProtKB/Swiss-Prot for AFF4 Gene
- Nucleus. Note=Associates to transcriptionally active chromatin but not at snRNA genes. {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| mitochondrion | 2 |
| cytosol | 2 |
| cytoskeleton | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001650 | fibrillar center | IDA | -- |
| GO:0005634 | nucleus | IDA | -- |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0008023 | transcription elongation factor complex | IDA | 22195968 |
| GO:0035327 | transcriptionally active chromatin | ISS | -- |
Pathways & Interactions for AFF4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Formation of HIV elongation complex in the absence of HIV Tat | ||
| 2 | Gene Expression |
.48
|
|
Pathways by source for AFF4 Gene
Interacting Proteins for AFF4 Gene
Selected Interacting proteins:
ENSP00000265343
Q9UHB7-AFF4_HUMAN
for AFF4 Gene via
STRING
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0006366 | transcription from RNA polymerase II promoter | TAS | -- |
| GO:0006368 | transcription elongation from RNA polymerase II promoter | TAS | -- |
| GO:0007286 | spermatid development | IEA | -- |
No data available for SIGNOR curated interactions for AFF4 Gene
Transcripts for AFF4 Gene
mRNA/cDNA for AFF4 Gene
- (4) REFSEQ mRNAs :
- (14) Additional mRNA sequences :
- (238) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for AFF4 Gene
CRISPR Products
-
OriGene CRISPR knockouts for AFF4
-
Santa Cruz Biotechnology (SCBT) CRISPR for AFF4
- GenScript: Design CRISPR guide RNA sequences for AFF4
miRNA Products
- Search ViGene Biosciences for AFF4
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for AFF4
- Browse OriGene Inhibitory RNA Products For AFF4
-
ViGene Biosciences ready-to-package AAV shRNAs for AFF4 gene
Clone Products
- Sino Biological Human cDNA Clone for AFF4
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for AFF4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AFF4
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: |
| ExUns: | 20 | ^ | 21 | ^ | 22 | ^ | 23 |
|---|---|---|---|---|---|---|---|
| SP1: | |||||||
| SP2: | |||||||
| SP3: | |||||||
| SP4: | |||||||
| SP5: |
Expression for AFF4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Lung (Respiratory System)
- Eye (Sensory Organs)
-
Testis (Reproductive System)
This gene is overexpressed in Plasma (31.0), Pancreatic juice (9.0), and Platelet (7.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AFF4 Gene
NURSA nuclear receptor signaling pathways regulating expression of AFF4 Gene:
AFF4SOURCE GeneReport for Unigene cluster for AFF4 Gene:
Hs.519313mRNA Expression by UniProt/SwissProt for AFF4 Gene:
Q9UHB7-AFF4_HUMAN
Tissue specificity:
Ubiquitously expressed. Strongly expressed in heart, placenta, skeletal muscle, pancreas and to a lower extent in brain.
Evidence on tissue expression from TISSUES for AFF4 Gene
- Nervous system(4.7)
- Liver(4.4)
- Skin(4.4)
- Blood(4.3)
- Muscle(3.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for AFF4 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Organs:
Head and neck:
- brain
- cheek
- chin
- ear
- epiglottis
- eye
- eyelid
- face
- forehead
- head
- jaw
- larynx
- lip
- mandible
- maxilla
- mouth
- neck
- nose
- pharynx
- skull
- vocal cord
Thorax:
- bronchus
- esophagus
- heart
- heart valve
- lung
- trachea
Abdomen:
- kidney
- stomach
Pelvis:
- testicle
- ureter
- urinary bladder
Limb:
- digit
- finger
- foot
- hand
- lower limb
- toe
- upper limb
General:
- blood
- blood vessel
- hair
- skin
Primer Products
-
OriGene qPCR primer pairs for AFF4
No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for AFF4 Gene
Orthologs for AFF4 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | AFF4 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | AFF4 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | AFF4 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Aff4 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Aff4 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | AFF4 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | AFF4 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | AFF4 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | AFF4 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | aff4 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | aff4 34 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | lilli 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.4989 35 |
|
OneToMany |
- Species where no ortholog for AFF4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for AFF4 Gene
(4) SIMAP similar genes for AFF4 Gene using alignment to 5 proteins:
Pseudogenes.org Pseudogenes for AFF4 Gene
Variants for AFF4 Gene
| SNP ID | Clin | Chr 05 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs786205233 | Pathogenic, CHOPS syndrome (CHOPS) [MIM:616368] | 132,934,305(-) | AACCC(A/G)CTGCC | reference, missense | |
| rs786205679 | Pathogenic, CHOPS syndrome (CHOPS) [MIM:616368] | 132,934,304(-) | ACCCA(C/G)TGCCT | reference, missense | |
| rs786205680 | Pathogenic, CHOPS syndrome (CHOPS) [MIM:616368] | 132,934,293(-) | ATGTG(C/T)GGCCC | reference, missense | |
| rs1000076965 | -- | 132,883,955(+) | CCTAA(A/G)AAACT | intron-variant | |
| rs1000089191 | -- | 132,932,026(+) | GAAGA(A/G)AGTAA | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2730796 | CNV | deletion | 23290073 |
| esv3606811 | CNV | gain | 21293372 |
| esv3606812 | CNV | loss | 21293372 |
| nsv1022039 | CNV | gain | 25217958 |
| nsv1137531 | CNV | deletion | 24896259 |
| nsv475496 | CNV | novel sequence insertion | 20440878 |
| nsv5003 | CNV | deletion | 18451855 |
| nsv830489 | CNV | loss | 17160897 |
| nsv830490 | CNV | gain | 17160897 |
| nsv968987 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
5.24% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.62;
45.31% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for AFF4 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AFF4 Gene
Disorders for AFF4 Gene
(2) MalaCards diseases for AFF4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| chops syndrome |
|
|
| lymphoblastic leukemia |
|
|
Search AFF4 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
AFF4_HUMAN- CHOPS syndrome (CHOPS) [MIM:616368]: A syndrome characterized by cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia. {ECO:0000269 PubMed:25730767}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Note=A chromosomal aberration involving AFF4 is found in acute lymphoblastic leukemia (ALL). Insertion ins(5;11)(q31;q13q23) that forms a KMT2A/MLL1-AFF4 fusion protein.
Relevant External Links for AFF4
No data available for Genatlas for AFF4 Gene
Publications for AFF4 Gene
- AF5q31, a newly identified AF4-related gene, is fused to MLL in infant acute lymphoblastic leukemia with ins(5;11)(q31;q13q23). (PMID: 10588740) Taki T. … Hayashi Y. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3 4 22 64
- Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. (PMID: 25730767) Izumi K. … Krantz I.D. (Nat. Genet. 2015) 3 4 64
- HIV-1 Tat recruits transcription elongation factors dispersed along a flexible AFF4 scaffold. (PMID: 23251033) Chou S. … Alber T. (Proc. Natl. Acad. Sci. U.S.A. 2013) 3 4 64
- The ubiquitin ligase Siah1 controls ELL2 stability and formation of super elongation complexes to modulate gene transcription. (PMID: 22483617) Liu M. … Zhou Q. (Mol. Cell 2012) 3 4 64
- The little elongation complex regulates small nuclear RNA transcription. (PMID: 22195968) Smith E.R. … Shilatifard A. (Mol. Cell 2011) 3 4 64
Products for AFF4 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for AFF4
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for AFF4
- Search Origene for MassSpec and Protein Over-expression Lysates for AFF4
- Origene Custom Protein Services for AFF4
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for AFF4
- Browse OriGene Inhibitory RNA Products For AFF4
- OriGene qPCR primer pairs for AFF4
- OriGene CRISPR knockouts for AFF4
- OriGene ORF clones in human for AFF4
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For AFF4
- GenScript: Next-day shipping cDNA ORF clone for AFF4 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for AFF4
- GenScript Custom Assay Services for AFF4
- GenScript Custom overexpressing Cell Line Services for AFF4
- GenScript: Design CRISPR guide RNA sequences for AFF4
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for AFF4
- Sino Biological Human cDNA Clone for AFF4
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Proteins
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for AFF4
- Novus Biologicals proteins and lysates for AFF4
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for AFF4
- Abcam proteins for AFF4
- Search for Assays for AFF4 at Abcam
- Find your target
- Search knockout validated antibodies
- Browse monoclonal antibodies
- antibodies-online Antibodies for AFF4: See all 57
- antibodies-online Kits for AFF4: See all 4
- antibodies-online Proteins for AFF4: See all 4
- Search antibodies-online for peptides
- GeneTex AFF4 antibody for AFF4
- Search GeneTex for Proteins for AFF4
- ViGene Biosciences adenoviral particle packaged cDNA for AFF4 gene
- ViGene Biosciences lentiviral particle packaged cDNA for AFF4 gene
- ViGene Biosciences ready-to-package AAV shRNAs for AFF4 gene
- Search ViGene Biosciences for AFF4
- Santa Cruz Biotechnology (SCBT) Antibodies for AFF4
- Search Santa Cruz Biotechnology (SCBT) for AFF4 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for AFF4
- Horizon Cell Lines for AFF4
- Cyagen custom Knockout/knockin (KOKI) mouse models for AFF4
- VectorBuilder custom plasmid, inducible vectors for AFF4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AFF4
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for AFF4 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer