AFF2

AFF2
Identifiers
Aliases	AFF2, FMR2, FMR2P, FRAXE, MRX2, OX19, AF4/FMR2 family member 2
External IDs	HomoloGene: 136314 GeneCards: AFF2
Gene ontology Molecular function • G-quadruplex RNA binding • RNA binding Cellular component • nuclear speck • nucleus Biological process • mRNA processing • regulation of RNA splicing • brain development • RNA splicing • learning or memory Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2334	n/a
Ensembl	ENSG00000155966	n/a
UniProt	P51816	n/a
RefSeq (mRNA)	NM_002025 NM_001169122 NM_001169123 NM_001169124 NM_001169125 NM_001170628	n/a
RefSeq (protein)	NP_001162593.1 NP_001162594.1 NP_001162595.1 NP_001162596.1 NP_001164099.1 NP_002016.2	n/a
Location (UCSC)	Chr X: 148.5 – 149 Mb	n/a
PubMed search	[1]	n/a
Wikidata

View/Edit Human

AF4/FMR2 family member 2 is a protein that in humans is encoded by the AFF2 gene.^[2] Mutations in AFF2 are implicated in cases of breast cancer.^[3]

References

1. "Human PubMed Reference:".
2. "Entrez Gene: AFF2 AF4/FMR2 family, member 2".
3. The Cancer Genome Atlas Network (2012). "Comprehensive molecular portraits of human breast tumours". Nature. Nature Publishing Group. 490 (7418): 61–70. doi:10.1038/nature11412. PMC 3465532. PMID 23000897. Retrieved 24 September 2012.

External links

• Human AFF2 genome location and AFF2 gene details page in the UCSC Genome Browser.

Further reading

• Mulley JC, Yu S, Loesch DZ, et al. (1995). "FRAXE and mental retardation.". J. Med. Genet. 32 (3): 162–9. doi:10.1136/jmg.32.3.162. PMC 1050310. PMID 7783162.
• Gecz J, Gedeon AK, Sutherland GR, Mulley JC (1996). "Identification of the gene FMR2, associated with FRAXE mental retardation.". Nat. Genet. 13 (1): 105–8. doi:10.1038/ng0596-105. PMID 8673085.
• Gu Y, Shen Y, Gibbs RA, Nelson DL (1996). "Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island.". Nat. Genet. 13 (1): 109–13. doi:10.1038/ng0596-109. PMID 8673086.
• Chakrabarti L, Knight SJ, Flannery AV, Davies KE (1996). "A candidate gene for mild mental handicap at the FRAXE fragile site.". Hum. Mol. Genet. 5 (2): 275–82. doi:10.1093/hmg/5.2.275. PMID 8824884.
• Gécz J, Oostra BA, Hockey A, et al. (1997). "FMR2 expression in families with FRAXE mental retardation.". Hum. Mol. Genet. 6 (3): 435–41. doi:10.1093/hmg/6.3.435. PMID 9147647.
• Gecz J, Bielby S, Sutherland GR, Mulley JC (1997). "Gene structure and subcellular localization of FMR2, a member of a new family of putative transcription activators.". Genomics. 44 (2): 201–13. doi:10.1006/geno.1997.4867. PMID 9299237.
• Chakrabarti L, Bristulf J, Foss GS, Davies KE (1998). "Expression of the murine homologue of FMR2 in mouse brain and during development.". Hum. Mol. Genet. 7 (3): 441–8. doi:10.1093/hmg/7.3.441. PMID 9467002.
• Gecz J, Mulley JC (1999). "Characterisation and expression of a large, 13.7 kb FMR2 isoform.". Eur. J. Hum. Genet. 7 (2): 157–62. doi:10.1038/sj.ejhg.5200279. PMID 10196698.
• Murray A, Webb J, Dennis N, et al. (1999). "Microdeletions in FMR2 may be a significant cause of premature ovarian failure.". J. Med. Genet. 36 (10): 767–70. doi:10.1136/jmg.36.10.767. PMC 1734234. PMID 10528856.
• Dias Neto E, Correa RG, Verjovski-Almeida S, et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800.
• Lo Nigro C, Faravelli F, Cavani S, et al. (2000). "FRAXE mutation in a mentally retarded subject and in his phenotypically normal twin brother.". Eur. J. Hum. Genet. 8 (3): 157–62. doi:10.1038/sj.ejhg.5200425. PMID 10780779.
• Tzeng CC, Tzeng PY, Sun HS, et al. (2000). "Implication of screening for FMR1 and FMR2 gene mutation in individuals with nonspecific mental retardation in Taiwan.". Diagn. Mol. Pathol. 9 (2): 75–80. doi:10.1097/00019606-200006000-00002. PMID 10850542.
• Musumeci SA, Scuderi C, Ferri R, et al. (2000). "Does a peculiar EEG pattern exist also for FRAXE mental retardation?". Clinical Neurophysiology. 111 (9): 1632–6. doi:10.1016/S1388-2457(00)00367-9. PMID 10964075.
• Hillman MA, Gecz J (2001). "Fragile XE-associated familial mental retardation protein 2 (FMR2) acts as a potent transcription activator.". J. Hum. Genet. 46 (5): 251–9. doi:10.1007/s100380170074. PMID 11355014.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Kitano T, Schwarz C, Nickel B, Pääbo S (2004). "Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees.". Mol. Biol. Evol. 20 (8): 1281–9. doi:10.1093/molbev/msg134. PMID 12777533.
• Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome.". Nature. 434 (7031): 325–37. doi:10.1038/nature03440. PMC 2665286. PMID 15772651.
• Brylawski BP, Chastain PD, Cohen SM, et al. (2007). "Mapping of an origin of DNA replication in the promoter of fragile X gene FMR1.". Exp. Mol. Pathol. 82 (2): 190–6. doi:10.1016/j.yexmp.2006.10.004. PMC 1934615. PMID 17196195.