Gene: AFF4

Alternate names for this Gene: AF5Q31|CHOPS|MCEF

Gene Summary: The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23).

Gene is located in Chromosome: 5

Location in Chromosome : 5q31.1

Description of this Gene: AF4/FMR2 family member 4

Type of Gene: protein-coding

rs786205680 in AFF4 gene and CHOPS SYNDROME PMID 25730767 2015 Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.

rs12163971 in AFF4 gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs10038027 in AFF4 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.