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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
  • AF4/FMR2 Family, Member 3 2 3
  • Protein LAF-4 3 4
  • LAF4 3 4
  • Lymphoid Nuclear Protein 4 3
  • 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 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

Regulatory Elements for AFF3 Gene

Promoters for AFF3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AFF3 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for AFF3 Gene

Chromosome:
2
Start:
99,545,419 bp from pter
End:
100,142,739 bp from pter
Size:
597,321 bases
Orientation:
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:
    P51826-AFF3_HUMAN
    Recommended name:
    AF4/FMR2 family member 3
    Protein Accession:
    P51826
    Secondary Accessions:
    • B7ZM46
    • B9EGL9
    • D3DVI6
    • Q53RD6
    • Q53S47
    • Q53SI6
    • Q53TB9
    • Q59F27
    • Q8IWJ5

    Protein attributes for AFF3 Gene

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

    Alternative splice isoforms for AFF3 Gene

    UniProtKB/Swiss-Prot:

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 & Families for AFF3 Gene

Gene Families for AFF3 Gene

Protein Domains for AFF3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for AFF3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P51826

UniProtKB/Swiss-Prot:

AFF3_HUMAN :
  • Belongs to the AF4 family.
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.
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

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
Jensen Localization Image for AFF3 Gene COMPARTMENTS Subcellular localization image for AFF3 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for AFF3 Gene

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

Pathways & Interactions 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: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:

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: -
SP3:
SP4:
SP5:

ExUns: 23 ^ 24 ^ 25
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for AFF3 Gene

GeneLoc Exon Structure for
AFF3
ECgene alternative splicing isoforms for
AFF3

Expression for AFF3 Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for AFF3 Gene Hs.444414

mRNA Expression by UniProt/SwissProt for AFF3 Gene

P51826-AFF3_HUMAN
Tissue specificity: Preferentially expressed in lymphoid tissues, highest levels being found in the thymus.
genes like me logo Genes that share expression patterns with AFF3: view

Protein tissue co-expression partners for AFF3 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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
cow
(Bos Taurus)
Mammalia AFF3 35
  • 87.56 (n)
  • 88.87 (a)
AFF3 36
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AFF3 35
  • 90.11 (n)
  • 91.73 (a)
AFF3 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aff3 35
  • 85.63 (n)
  • 87.93 (a)
Aff3 16
Aff3 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AFF3 35
  • 99.39 (n)
  • 99.36 (a)
AFF3 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aff3 35
  • 85.33 (n)
  • 87.5 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 73 (a)
OneToMany
-- 36
  • 77 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 68 (a)
OneToMany
-- 36
  • 57 (a)
OneToMany
chicken
(Gallus gallus)
Aves AFF3 35
  • 72.49 (n)
  • 70.5 (a)
AFF3 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AFF3 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aff3 35
  • 60.51 (n)
  • 54.5 (a)
zebrafish
(Danio rerio)
Actinopterygii aff3 36
  • 29 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta lilli 36
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4989 36
  • 17 (a)
OneToMany
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

ENSEMBL:
Gene Tree for AFF3 (if available)
TreeFam:
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
rs4851223 - 99,727,095(+) TGCCA(C/T)TGTCT reference, missense
rs1047265 - 99,594,180(-) GAGCA(A/G)TCAGT reference, missense
rs764594 -- 99,907,702(-) gggat(C/G)gtgcc intron-variant
rs731638 -- 99,574,517(-) TCTAC(A/C)TGCAG intron-variant
rs882855 -- 99,691,412(+) TGCTA(C/T)TGTGC 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

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

HapMap Linkage Disequilibrium report
AFF3
Human Gene Mutation Database (HGMD)
AFF3

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: 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)
AFF3
Human Genome Epidemiology (HuGE) Navigator
AFF3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AFF3
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 L.M. (Blood 1996) 2 3 4 23 67
  2. 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
  3. 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
  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. Genome wide association study identifies a novel putative mammographic density locus at 1q12-q21. (PMID: 25353672) Fernandez-Navarro P. … Pollan M. (Int. J. Cancer 2015) 3

Products for AFF3 Gene

Sources for AFF3 Gene

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