AF4/FMR2 family member 4 (ALL1-fused gene from chromosome 5q31, major CDK9 elongation factor-associated protein, AFF4, AF5Q31, MCEF, HSPC092)

Function

• role in transcriptional regulation
• component of the cyclin-dependent kinase pair complex (CDK9/cyclin-T1 complex, P-TEFb) <positive transcription elongation factor b>

Structure

belongs to the AF4 family

Compartment

nucleus

Alternative splicing

named isoforms=3

Expression

• ubiquitously expressed
• strongly expressed in heart, placenta, skeletal muscle, pancreas & to a lower extent in brain
• expressed in fetal heart, lung, brain > liver

Pathology

• chromosomal insertion ins(5;11)(q31;q13q23) involving AFF4 is found in acute lymphoblastic leukemia (ALL). This insertion forms a MLL-AFF4 fusion protein

More general terms

• transcription factor (TF)

Database

• OMIM: https://mirror.omim.org/entry/604417
• UniProt: http://www.uniprot.org/uniprot/Q9UHB7.html