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Aliases for AFF3 Gene

Aliases for AFF3 Gene

  • AF4/FMR2 Family, Member 3 2 3
  • Lymphoid Nuclear Protein Related To AF4 2 3 4
  • LAF4 3 4 6
  • Protein LAF-4 3 4
  • Lymphoid Nuclear Protein 4 3
  • AF4/FMR2 Family Member 3 3
  • MLLT2-Related Protein 3
  • MLLT2-Like 3

External Ids for AFF3 Gene

Previous Symbols for AFF3 Gene

  • LAF4

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 AFF1.

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

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

Genomics for AFF3 Gene

Genomic Location for AFF3 Gene

99,545,419 bp from pter
100,142,739 bp from pter
597,321 bases
Minus strand

Genomic View for AFF3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AFF3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AFF3 Gene

Regulatory Elements for AFF3 Gene

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

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

Proteomics data for AFF3 Gene at MOPED

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 for AFF3 Gene

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.:
    • P51826
genes like me logo Genes that share domains with AFF3: view

No data available for Gene Families for AFF3 Gene

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

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

Phenotypes for AFF3 Gene

MGI mutant phenotypes for AFF3:
inferred from 1 alleles
GenomeRNAi human phenotypes for AFF3:
genes like me logo Genes that share phenotypes with AFF3: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for AFF3 Gene

Localization for AFF3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AFF3 Gene

Subcellular locations from

Jensen Localization Image for AFF3 Gene COMPARTMENTS Subcellular localization image for AFF3 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for AFF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 8555498
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with AFF3: view

Pathways for AFF3 Gene

SuperPathways for AFF3 Gene

No Data Available

Interacting Proteins for AFF3 Gene

Selected Interacting proteins: P51826-AFF3_HUMAN for AFF3 Gene via I2D

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 for AFF3 Gene

Transcripts for AFF3 Gene

Unigene Clusters for AFF3 Gene

AF4/FMR2 family, member 3:
Representative Sequences:

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 for AFF3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for AFF3 Gene

SOURCE GeneReport for Unigene cluster for AFF3 Gene Hs.444414

mRNA Expression by UniProt/SwissProt for AFF3 Gene

Tissue specificity: Preferentially expressed in lymphoid tissues, highest levels being found in the thymus
genes like me logo Genes that share expressions with AFF3: view

No data available for mRNA differential expression in normal tissues 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 35
  • 99.39 (n)
  • 99.36 (a)
AFF3 36
  • 99 (a)
(Bos Taurus)
Mammalia AFF3 35
  • 87.56 (n)
  • 88.87 (a)
AFF3 36
  • 72 (a)
(Canis familiaris)
Mammalia AFF3 35
  • 90.11 (n)
  • 91.73 (a)
AFF3 36
  • 92 (a)
(Mus musculus)
Mammalia Aff3 35
  • 85.63 (n)
  • 87.93 (a)
Aff3 16
Aff3 36
  • 88 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 73 (a)
-- 36
  • 77 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 68 (a)
-- 36
  • 57 (a)
(Rattus norvegicus)
Mammalia Aff3 35
  • 85.33 (n)
  • 87.5 (a)
(Gallus gallus)
Aves AFF3 35
  • 72.49 (n)
  • 70.5 (a)
AFF3 36
  • 78 (a)
(Anolis carolinensis)
Reptilia AFF3 36
  • 64 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aff3 35
  • 60.51 (n)
  • 54.5 (a)
(Danio rerio)
Actinopterygii aff3 36
  • 29 (a)
fruit fly
(Drosophila melanogaster)
Insecta lilli 36
  • 15 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4989 36
  • 17 (a)
Species with no ortholog for AFF3:
  • 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 MAF
rs731638 -- 99,574,517(-) TCTAC(A/C)TGCAG intron-variant
rs735001 -- 100,065,158(+) CGAGG(C/T)TGCTC intron-variant
rs744145 -- 99,573,587(+) CGAGT(A/C)TTCCC intron-variant
rs764594 -- 99,907,702(-) gggat(C/G)gtgcc intron-variant
rs868665 -- 99,691,638(-) GGTTG(C/G)GGTGC intron-variant

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

Variant ID Type Subtype PubMed ID
esv2720433 CNV Deletion 23290073
esv2720434 CNV Deletion 23290073
esv2137645 CNV Deletion 18987734
dgv1230e1 CNV Complex 17122850
esv9519 CNV Gain 19470904
nsv2845 CNV Loss 18451855
esv270786 CNV Insertion 20981092
esv272467 CNV Insertion 20981092
esv2662354 CNV Deletion 23128226
nsv2846 CNV Insertion 18451855
nsv458707 CNV Gain 19166990
nsv2847 CNV Loss 18451855
nsv2848 CNV Insertion 18451855
nsv527481 CNV Loss 19592680

Relevant External Links for AFF3 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

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

Disorders for AFF3 Gene

(1) MalaCards Diseases for AFF3 Gene

Search for AFF3 Gene in MalaCards »

(2) Novoseek inferred disease relationships for AFF3 Gene

Disease -log(P) Hits PubMed IDs
lymphoblastic leukemia acute 66.4 3
leukemia 28.7 1

Relevant External Links for AFF3

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with AFF3: view

No data available for UniProtKB/Swiss-Prot 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 L.M. (Blood 1996) 2 3 4 23
  2. LAF4, an AF4-related gene, is fused to MLL in infant acute lymphoblastic leukemia. (PMID: 12203795) von Bergh A.R. … Schuuring E. (Genes Chromosomes Cancer 2002) 3 23
  3. Fusion of an AF4-related gene, LAF4, to MLL in childhood acute lymphoblastic leukemia with t(2;11)(q11;q23). (PMID: 12743608) Hiwatari M. … Hayashi Y. (Oncogene 2003) 3 23
  4. LAF4 maps to mouse chromosome 1 and human chromosome 2q11.2-q12. (PMID: 8662235) Liao X. … Copeland N.G. (Mamm. Genome 1996) 2 3
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4

Products for AFF3 Gene

Sources for AFF3 Gene

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