AFF3

AFF3
Identifiers
Aliases	AFF3, LAF4, MLLT2-like, AF4/FMR2 family member 3, KINS
External IDs	OMIM: 601464; MGI: 106927; HomoloGene: 1718; GeneCards: AFF3; OMA:AFF3 - orthologs
Gene location (Human)
Chr.	Chromosome 2 (human)
End	100,192,428 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	38,704,036 bp
RNA expression pattern
	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
	; ;
	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
	3899
	16764
	ENSG00000144218
	ENSMUSG00000037138
	P51826
	P51827
	NM_001025108; NM_002285; NM_001386135
	NM_001290814; NM_010678
	NP_001020279; NP_002276
	NP_001277743
	Wikidata
View/Edit Human	View/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 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.^[7]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000144218 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000037138 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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" (PDF). Mammalian Genome. 7 (6): 467–8. doi:10.1007/s003359900137. PMID 8662235.
^ 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. PMID 8555498.
^ ^a ^b "Entrez Gene: AFF3 AF4/FMR2 family, member 3".

External links

Human AFF3 genome location and AFF3 gene details page in the UCSC Genome Browser.

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.
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.
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.

This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000144218 – Ensembl, May 2017

[refGRCm38Ensembl-2] 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.

[pmid8662235-5] 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" (PDF). Mammalian Genome. 7 (6): 467–8. doi:10.1007/s003359900137. PMID 8662235.

[pmid8555498-6] 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. PMID 8555498.

[entrez-7] "Entrez Gene: AFF3 AF4/FMR2 family, member 3".

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Function

References

External links

Further reading