AFF3

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

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)[1] Band 2q11.2 Start 99,545,419 bp[1] End 100,192,428 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1 B|1 16.58 cM Start 38,216,407 bp[2] End 38,704,036 bp[2]
RNA expression pattern Bgee Human Mouse (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 Species Human Mouse 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 Mb Chr 1: 38.22 – 38.7 Mb PubMed search [3] [4]
Wikidata
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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]