AFF2

AFF2
Identifiers
Aliases	AFF2, FMR2, FMR2P, FRAXE, MRX2, OX19, AF4/FMR2 family member 2, XLID109
External IDs	OMIM: 300806; MGI: 1202294; HomoloGene: 136314; GeneCards: AFF2; OMA:AFF2 - orthologs
Gene location (Human)
Chr.	X chromosome (human)
End	149,000,663 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	68,911,643 bp
RNA expression pattern
	Top expressed in
	ganglionic eminence; ; Achilles tendon; ; ventricular zone; ; bone marrow cells; ; Brodmann area 23; ; periodontal fiber; ; cerebellar cortex; ; cerebellar hemisphere; ; right lung; ; middle temporal gyrus;
	Top expressed in
	genital tubercle; ; granulocyte; ; lumbar subsegment of spinal cord; ; tail of embryo; ; dentate gyrus of hippocampal formation granule cell; ; ganglionic eminence; ; superior frontal gyrus; ; embryo; ; ventricular zone; ; primary visual cortex;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	G-quadruplex RNA binding; RNA binding; double-stranded DNA binding; DNA-binding transcription factor activity;
Cellular component	nuclear speck; nucleus; transcription elongation factor complex; super elongation complex;
Biological process	mRNA processing; regulation of RNA splicing; brain development; RNA splicing; learning or memory; regulation of gene expression; negative regulation of gene expression; nuclear speck organization; regulation of transcription, DNA-templated;
	Sources:Amigo / QuickGO
Orthologs
	2334
	14266
	ENSG00000155966
	ENSMUSG00000031189
	P51816
	O55112
NM_002025; NM_001169122; NM_001169123; NM_001169124; NM_001169125;
	NM_001170628
	NM_008032
NP_001162593; NP_001162594; NP_001162595; NP_001162596; NP_001164099;
	NP_002016
	NP_032058
	Wikidata
View/Edit Human	View/Edit Mouse

AF4/FMR2 family member 2 is a protein that in humans is encoded by the AFF2 gene.^[5] Mutations in AFF2 are implicated in cases of breast cancer.^[6]

CCG repeat expansions in this gene are associated with X-linked intellectual disability and specifically a syndrome known as Fragile XE mental retardation (FRAXE). FRAXE is one of the most common forms of non-syndromic X-linked intellectual disability. The gene is also known as FMR2 (Fragile Mental Retardation 2) after this condition.^[7]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000155966 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000031189 – 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.
^ "Entrez Gene: AFF2 AF4/FMR2 family, member 2".
^ The Cancer Genome Atlas Network (October 2012). "Comprehensive molecular portraits of human breast tumours". Nature. 490 (7418): 61–70. Bibcode:2012Natur.490...61T. doi:10.1038/nature11412. PMC 3465532. PMID 23000897.
^ Stettner GM, Shoukier M, Höger C, Brockmann K, Auber B (August 2011). "Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion". American Journal of Medical Genetics. Part A. 155A (8): 2003–7. doi:10.1002/ajmg.a.34122. PMID 21739600. S2CID 9568277.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000155966 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000031189 – 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.

[entrez-5] "Entrez Gene: AFF2 AF4/FMR2 family, member 2".

[nature11412-6] The Cancer Genome Atlas Network (October 2012). "Comprehensive molecular portraits of human breast tumours". Nature. 490 (7418): 61–70. Bibcode:2012Natur.490...61T. doi:10.1038/nature11412. PMC 3465532. PMID 23000897.

[Stettner2011-7] Stettner GM, Shoukier M, Höger C, Brockmann K, Auber B (August 2011). "Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion". American Journal of Medical Genetics. Part A. 155A (8): 2003–7. doi:10.1002/ajmg.a.34122. PMID 21739600. S2CID 9568277.

[1]

[2]

[3]

[4]

[5]

[6]

[7]