AFF2

AFF2
Identifiers
Aliases	AFF2, FMR2, FMR2P, FRAXE, MRX2, OX19, AF4/FMR2 family member 2, XLID109
External IDs	OMIM: 300806 HomoloGene: 136314 GeneCards: AFF2
Gene location (Human)
Chr.	X chromosome (human)
End	149,000,663 bp
RNA expression pattern
	Top expressed in
	ganglionic eminence; ; Achilles tendon; ; bone marrow cells; ; Brodmann area 23; ; periodontal fiber; ; cerebellar cortex; ; cerebellar hemisphere; ; right lung; ; middle temporal gyrus; ; tibialis anterior muscle;
	n/a
	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
	n/a
	ENSG00000155966
	n/a
	P51816
	n/a
NM_002025; NM_001169122; NM_001169123; NM_001169124; NM_001169125;
	NM_001170628
	n/a
NP_001162593; NP_001162594; NP_001162595; NP_001162596; NP_001164099;
	NP_002016
	n/a
	Wikidata
View/Edit Human

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

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.

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