Aff4 AF4/FMR2 family, member 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Aff4provided by MGI
Official Full Name: AF4/FMR2 family, member 4provided by MGI
Primary source: MGI:MGI:2136171
See related: Ensembl:ENSMUSG00000049470 AllianceGenome:MGI:2136171
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Alf4; MCEF; Laf4l; AF5Q31
Summary: Acts upstream of or within spermatid development. Located in euchromatin and nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Orthologous to human AFF4 (ALF transcription elongation factor 4). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in whole brain E14.5 (RPKM 13.9), CNS E14 (RPKM 13.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B1.3; 11 31.93 cM

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (53240807..53312657)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (53350640..53421830)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CircRNA AFF4 induced by KDM1A promotes osteogenic differentiation through FNDC5/Irisin pathway.
Title: CircRNA AFF4 induced by KDM1A promotes osteogenic differentiation through FNDC5/Irisin pathway.
AFF4 regulates cellular adipogenic differentiation via targeting autophagy.
Title: AFF4 regulates cellular adipogenic differentiation via targeting autophagy.
Identification of the transcription factor, AFF4, as a new target of miR-203 in CNS.
Title: Identification of the transcription factor, AFF4, as a new target of miR-203 in CNS.
CircRNA AFF4 promotes osteoblast cells proliferation and inhibits apoptosis via the Mir-7223-5p/PIK3R1 axis.
Title: CircRNA AFF4 promotes osteoblast cells proliferation and inhibits apoptosis via the Mir-7223-5p/PIK3R1 axis.
define a specific pairing of two amino acids that creates a salt bridge between MLLT1/3 and AFF proteins that is critically important for MLL-mediated transformation of HPCs
Title: Importance of a specific amino acid pairing for murine MLL leukemias driven by MLLT1/3 or AFF1/4.
AFF4 may therefore help to maintain activation of AMPK downstream signaling under conditions of prolonged stimulation with ghrelin, such as during fasting.
Title: Regulation of AMP-activated protein kinase signaling by AFF4 protein, member of AF4 (ALL1-fused gene from chromosome 4) family of transcription factors, in hypothalamic neurons.
In the absence of Runx1 on the silencer, P-TEFb interacts with the transcription complex, forming a different chromatin loop between the enhancer and the promoter, which leads to the expression of the CD4 gene
Title: Differential chromatin looping regulates CD4 expression in immature thymocytes.
Af4 functions as a positive regulator of Pol II transcription elongation factor b (P-TEFb) kinase and, in complex with MLL fusion partners Af9, Enl and Af10, as a mediator of histone H3-K79 methylation by recruiting Dot1 to elongating Pol II
Title: The mixed-lineage leukemia fusion partner AF4 stimulates RNA polymerase II transcriptional elongation and mediates coordinated chromatin remodeling.
AF5q31 (Aff4) is a transcriptional regulator in testicular somatic cells and is essential for male germ cell differentiation and survival.
Title: Infertility with defective spermiogenesis in mice lacking AF5q31, the target of chromosomal translocation in human infant leukemia.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5) 1 citation
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

REN72054 (e-PCR)
- UniSTS:396854

SGC32016 (e-PCR)
- UniSTS:59709

MARC_16763-16764:1020874272:1 (e-PCR)
- UniSTS:268105

AU047273 (e-PCR)
- UniSTS:110671

Aff4 (e-PCR), detects polymorphism
- UniSTS:506718

Aff4 (e-PCR), detects polymorphism
- UniSTS:547180

Aff4 (e-PCR), detects polymorphism
- UniSTS:526965

Aff4 (e-PCR), detects polymorphism
- UniSTS:496778

RH126068 (e-PCR)
- UniSTS:162780

stSG601610 (e-PCR)
- UniSTS:444395

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in regulation of gene expression	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in response to endoplasmic reticulum stress	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within spermatid development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in euchromatin	IDA Inferred from Direct Assay more info	PubMed
located_in fibrillar center	IEA Inferred from Electronic Annotation more info
located_in fibrillar center	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of super elongation complex	IBA Inferred from Biological aspect of Ancestor more info
part_of transcription elongation factor complex	ISO Inferred from Sequence Orthology more info
part_of transcription elongation factor complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: AF4/FMR2 family member 4

Names: ALL1 fused gene from 5q31

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.