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Aliases for AFF3 Gene

Aliases for AFF3 Gene

  • AF4/FMR2 Family Member 3 2 3 5
  • Lymphoid Nuclear Protein Related To AF4 2 3 4
  • Protein LAF-4 3 4
  • LAF4 3 4
  • Lymphoid Nuclear Protein 4 3
  • AF4/FMR2 Family, Member 3 2
  • MLLT2-Related Protein 3
  • MLLT2-Like 3

External Ids for AFF3 Gene

Previous HGNC Symbols for AFF3 Gene

  • LAF4

Previous GeneCards Identifiers for AFF3 Gene

  • GC02M099627
  • GC02M100163
  • GC02M093928

Summaries for AFF3 Gene

Entrez Gene Summary for AFF3 Gene

  • This gene encodes a tissue-restricted nuclear transcriptional activator that is preferentially expressed in lymphoid tissue. Isolation of this protein initially defined a highly conserved LAF4/MLLT2 gene family of nuclear transcription factors that may function in lymphoid development and oncogenesis. In some ALL patients, this gene has been found fused to the gene for MLL. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for AFF3 Gene

AFF3 (AF4/FMR2 Family Member 3) is a Protein Coding gene. Diseases associated with AFF3 include Fibular Aplasia. GO annotations related to this gene include double-stranded DNA binding. An important paralog of this gene is AFF2.

UniProtKB/Swiss-Prot for AFF3 Gene

  • Putative transcription activator that may function in lymphoid development and oncogenesis. Binds, in vitro, to double-stranded DNA.

Gene Wiki entry for AFF3 Gene

Additional gene information for AFF3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AFF3 Gene

Genomics for AFF3 Gene

Regulatory Elements for AFF3 Gene

Enhancers for AFF3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H100393 1.1 FANTOM5 ENCODE 28 -252.2 -252207 2.1 HDGF PKNOX1 MAX EBF1 RELA POLR2A EED ZNF143 ATF7 RUNX3 AFF3 CHST10 LONRF2 ENSG00000270699
GH02H100113 0.9 Ensembl ENCODE dbSUPER 19.1 +28.4 28372 2.4 SPI1 AFF3 ENSG00000230393
GH02H099877 2.7 FANTOM5 Ensembl ENCODE dbSUPER 5.1 +261.8 261804 6 PKNOX1 RAD21 RFX5 ZNF121 ZSCAN5C FOS RUNX3 EGR2 ZNF202 TSHZ1 LOC550644 ENSG00000273306 REV1 LIPT1 MITD1 AFF3 LYG1 GC02P099881 LOC105373504
GH02H100196 1.2 FANTOM5 Ensembl ENCODE 10.7 -55.1 -55128 2.9 TBP PKNOX1 TAL1 HLF THRB RARA OSR2 NFIC CTBP1 IKZF1 AFF3 LINC01104
GH02H100067 1.3 FANTOM5 ENCODE 8.7 +74.4 74436 1.5 FOXA2 ATF1 MLX ARID4B MIER2 PPARG KAT8 NFIL3 MIER3 ATF4 AFF3 ENSG00000230393 GC02P099881
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AFF3 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the AFF3 gene promoter:

Genomic Locations for AFF3 Gene

Genomic Locations for AFF3 Gene
597,321 bases
Minus strand

Genomic View for AFF3 Gene

Genes around AFF3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AFF3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AFF3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AFF3 Gene

Proteins for AFF3 Gene

  • Protein details for AFF3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    AF4/FMR2 family member 3
    Protein Accession:
    Secondary Accessions:
    • B7ZM46
    • B9EGL9
    • D3DVI6
    • Q53RD6
    • Q53S47
    • Q53SI6
    • Q53TB9
    • Q59F27
    • Q8IWJ5

    Protein attributes for AFF3 Gene

    1226 amino acids
    Molecular mass:
    133476 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for AFF3 Gene


neXtProt entry for AFF3 Gene

Post-translational modifications for AFF3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AFF3 Gene

Domains & Families for AFF3 Gene

Gene Families for AFF3 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for AFF3 Gene


Suggested Antigen Peptide Sequences for AFF3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the AF4 family.
  • Belongs to the AF4 family.
genes like me logo Genes that share domains with AFF3: view

Function for AFF3 Gene

Molecular function for AFF3 Gene

UniProtKB/Swiss-Prot Function:
Putative transcription activator that may function in lymphoid development and oncogenesis. Binds, in vitro, to double-stranded DNA.

Phenotypes From GWAS Catalog for AFF3 Gene

Gene Ontology (GO) - Molecular Function for AFF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003690 double-stranded DNA binding IDA 8555498
genes like me logo Genes that share ontologies with AFF3: view
genes like me logo Genes that share phenotypes with AFF3: view

Animal Models for AFF3 Gene

MGI Knock Outs for AFF3:
  • Aff3 tm1a(EUCOMM)Wtsi

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AFF3 Gene

Localization for AFF3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AFF3 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AFF3 gene
Compartment Confidence
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AFF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 8555498
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
GO:0016604 nuclear body IDA --
genes like me logo Genes that share ontologies with AFF3: view

Pathways & Interactions for AFF3 Gene

No Data Available

Interacting Proteins for AFF3 Gene

Gene Ontology (GO) - Biological Process for AFF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0034612 response to tumor necrosis factor IMP 20444755
GO:0035116 embryonic hindlimb morphogenesis IMP 18616733
genes like me logo Genes that share ontologies with AFF3: view

No data available for Pathways by source and SIGNOR curated interactions for AFF3 Gene

Drugs & Compounds for AFF3 Gene

No Compound Related Data Available

Transcripts for AFF3 Gene

Unigene Clusters for AFF3 Gene

AF4/FMR2 family, member 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AFF3 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1: -
SP2: -

ExUns: 23 ^ 24 ^ 25

Relevant External Links for AFF3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for AFF3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AFF3 Gene

Protein differential expression in normal tissues from HIPED for AFF3 Gene

This gene is overexpressed in Heart (30.4), Adipocyte (18.0), and Peripheral blood mononuclear cells (15.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AFF3 Gene

Protein tissue co-expression partners for AFF3 Gene

NURSA nuclear receptor signaling pathways regulating expression of AFF3 Gene:


SOURCE GeneReport for Unigene cluster for AFF3 Gene:


mRNA Expression by UniProt/SwissProt for AFF3 Gene:

Tissue specificity: Preferentially expressed in lymphoid tissues, highest levels being found in the thymus.

Evidence on tissue expression from TISSUES for AFF3 Gene

  • Nervous system(4.3)
  • Spleen(4.2)
genes like me logo Genes that share expression patterns with AFF3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for AFF3 Gene

Orthologs for AFF3 Gene

This gene was present in the common ancestor of animals.

Orthologs for AFF3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia AFF3 33 34
  • 99.39 (n)
(Canis familiaris)
Mammalia AFF3 33 34
  • 90.11 (n)
(Bos Taurus)
Mammalia AFF3 33 34
  • 87.56 (n)
(Mus musculus)
Mammalia Aff3 33 16 34
  • 85.63 (n)
(Rattus norvegicus)
Mammalia Aff3 33
  • 85.33 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 77 (a)
-- 34
  • 73 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 68 (a)
-- 34
  • 57 (a)
(Gallus gallus)
Aves AFF3 33 34
  • 72.49 (n)
(Anolis carolinensis)
Reptilia AFF3 34
  • 64 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aff3 33
  • 60.51 (n)
(Danio rerio)
Actinopterygii aff3 34
  • 29 (a)
fruit fly
(Drosophila melanogaster)
Insecta lilli 34
  • 15 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4989 34
  • 17 (a)
Species where no ortholog for AFF3 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)

Evolution for AFF3 Gene

Gene Tree for AFF3 (if available)
Gene Tree for AFF3 (if available)

Paralogs for AFF3 Gene

Paralogs for AFF3 Gene

genes like me logo Genes that share paralogs with AFF3: view

Variants for AFF3 Gene

Sequence variations from dbSNP and Humsavar for AFF3 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs886041092 Pathogenic 100,006,808(-) CGACC(-/T)GCGTA reference, frameshift-variant
rs1000000111 -- 99,920,346(+) ATGCC(A/G)CAATC intron-variant
rs1000004773 -- 99,674,835(+) CACCA(C/T)ATGAG intron-variant
rs1000008035 -- 99,810,967(+) TCTAA(A/G)GGCCT intron-variant
rs1000009116 -- 99,610,974(+) CTGTC(A/C)TTCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AFF3 Gene

Variant ID Type Subtype PubMed ID
nsv979074 CNV duplication 23825009
nsv963672 CNV duplication 23825009
nsv582530 CNV loss 21841781
nsv582529 CNV gain 21841781
nsv527481 CNV loss 19592680
nsv473190 CNV novel sequence insertion 20440878
nsv458707 CNV gain 19166990
nsv2848 CNV insertion 18451855
nsv2847 CNV deletion 18451855
nsv2846 CNV insertion 18451855
nsv2845 CNV deletion 18451855
nsv1148652 CNV duplication 26484159
nsv1146874 CNV duplication 26484159
nsv1133479 CNV deletion 24896259
nsv1072010 CNV deletion 25765185
nsv1003114 CNV loss 25217958
esv9519 CNV gain 19470904
esv3591744 CNV loss 21293372
esv3591743 CNV loss 21293372
esv3591740 CNV loss 21293372
esv3591739 CNV gain 21293372
esv3583981 CNV loss 25503493
esv3559843 CNV deletion 23714750
esv3423347 CNV duplication 20981092
esv2759078 CNV gain+loss 17122850
esv2720434 CNV deletion 23290073
esv2720433 CNV deletion 23290073
esv2662354 CNV deletion 23128226
esv2137645 CNV deletion 18987734
dgv1156e212 CNV loss 25503493

Variation tolerance for AFF3 Gene

Residual Variation Intolerance Score: 3.33% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.13; 51.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AFF3 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AFF3 Gene

Disorders for AFF3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for AFF3 Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
fibular aplasia
- elite association - COSMIC cancer census association via MalaCards
Search AFF3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for AFF3

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with AFF3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AFF3 Gene

Publications for AFF3 Gene

  1. LAF-4 encodes a lymphoid nuclear protein with transactivation potential that is homologous to AF-4, the gene fused to MLL in t(4;11) leukemias. (PMID: 8555498) Ma C … Staudt LM (Blood 1996) 2 3 4 22 60
  2. Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis. (PMID: 20072139) Hinks A … Thomson W (Genes and immunity 2010) 3 45 60
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  4. Investigation of rheumatoid arthritis susceptibility genes identifies association of AFF3 and CD226 variants with response to anti-tumour necrosis factor treatment. (PMID: 20444755) Tan RJ … Barton A (Annals of the rheumatic diseases 2010) 3 45 60
  5. Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. (PMID: 20453842) Stahl EA … Plenge RM (Nature genetics 2010) 3 45 60

Products for AFF3 Gene

Sources for AFF3 Gene

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