AFF3

Protein-coding gene in the species Homo sapiens
AFF3
Identifiers
AliasesAFF3, LAF4, MLLT2-like, AF4/FMR2 family member 3, KINS
External IDsOMIM: 601464; MGI: 106927; HomoloGene: 1718; GeneCards: AFF3; OMA:AFF3 - orthologs
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for AFF3
Genomic location for AFF3
Band2q11.2Start99,545,419 bp[1]
End100,192,428 bp[1]
Gene location (Mouse)
Chromosome 1 (mouse)
Chr.Chromosome 1 (mouse)[2]
Chromosome 1 (mouse)
Genomic location for AFF3
Genomic location for AFF3
Band1 B|1 16.58 cMStart38,216,407 bp[2]
End38,704,036 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • ganglionic eminence

  • postcentral gyrus

  • lower lobe of lung

  • lactiferous duct

  • pons

  • Achilles tendon

  • superior frontal gyrus

  • testicle

  • cerebellar vermis

  • lateral nuclear group of thalamus
Top expressed in
  • vas deferens

  • hand

  • ankle

  • Gonadal ridge

  • internal carotid artery

  • substantia nigra

  • external carotid artery

  • stria vascularis

  • Rostral migratory stream

  • sciatic nerve
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
  • DNA binding
  • double-stranded DNA binding
  • DNA-binding transcription factor activity
Cellular component
  • nucleus
  • nucleoplasm
  • cytosol
  • nuclear body
  • transcription elongation factor complex
  • super elongation complex
Biological process
  • response to tumor necrosis factor
  • regulation of transcription, DNA-templated
  • transcription, DNA-templated
  • embryonic hindlimb morphogenesis
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

3899

16764

Ensembl

ENSG00000144218

ENSMUSG00000037138

UniProt

P51826

P51827

RefSeq (mRNA)

NM_001025108
NM_002285
NM_001386135

NM_001290814
NM_010678

RefSeq (protein)

NP_001020279
NP_002276

NP_001277743

Location (UCSC)Chr 2: 99.55 – 100.19 MbChr 1: 38.22 – 38.7 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

AF4/FMR2 family member 3 is a protein that in humans is encoded by the AFF3 gene.[5][6][7]

Function

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 AF4/FMR2 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.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000144218 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037138 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Liao X, Ma C, Trask B, Massa H, Gilbert DJ, Staudt LM, Jenkins NA, Copeland NG (Jun 1996). "LAF4 maps to mouse chromosome 1 and human chromosome 2q11.2-q12". Mammalian Genome. 7 (6): 467–8. doi:10.1007/s003359900137. PMID 8662235. S2CID 1525532.
  6. ^ Ma C, Staudt LM (Jan 1996). "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". Blood. 87 (2): 734–45. doi:10.1182/blood.V87.2.734.bloodjournal872734. PMID 8555498.
  7. ^ a b "Entrez Gene: AFF3 AF4/FMR2 family, member 3".

Further reading

  • Bonaldo MF, Lennon G, Soares MB (Sep 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
  • von Bergh AR, Beverloo HB, Rombout P, van Wering ER, van Weel MH, Beverstock GC, Kluin PM, Slater RM, Schuuring E (Sep 2002). "LAF4, an AF4-related gene, is fused to MLL in infant acute lymphoblastic leukemia". Genes, Chromosomes & Cancer. 35 (1): 92–6. doi:10.1002/gcc.10091. PMID 12203795. S2CID 20750925.
  • Hiwatari M, Taki T, Taketani T, Taniwaki M, Sugita K, Okuya M, Eguchi M, Ida K, Hayashi Y (May 2003). "Fusion of an AF4-related gene, LAF4, to MLL in childhood acute lymphoblastic leukemia with t(2;11)(q11;q23)". Oncogene. 22 (18): 2851–5. doi:10.1038/sj.onc.1206389. PMID 12743608.
  • Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, Li Y, Xu C, Fang R, Guegler K, Rao MS, Mandalam R, Lebkowski J, Stanton LW (Jun 2004). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nature Biotechnology. 22 (6): 707–16. doi:10.1038/nbt971. PMID 15146197. S2CID 27764390.
  • To MD, Faseruk SA, Gokgoz N, Pinnaduwage D, Done SJ, Andrulis IL (Jul 2005). "LAF-4 is aberrantly expressed in human breast cancer". International Journal of Cancer. 115 (4): 568–74. doi:10.1002/ijc.20881. PMID 15704140. S2CID 11311219.


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