AFF2

AFF2

Identifiers

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 • regulation of gene expression • negative regulation of gene expression • nuclear speck organization
Sources:Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse


2334


n/a


ENSG00000155966


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P51816


n/a

RefSeq (mRNA)

NM_002025 NM_001169122 NM_001169123 NM_001169124 NM_001169125
NM_001170628


n/a

RefSeq (protein)

NP_001162593 NP_001162594 NP_001162595 NP_001162596 NP_001164099
NP_002016


n/a

Location (UCSC)

Chr X: 148.5 – 149 Mb

n/a

PubMed search

^[1]

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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

↑ "Human PubMed Reference:".
↑ "Entrez Gene: AFF2 AF4/FMR2 family, member 2".
↑ The Cancer Genome Atlas Network (2012). "Comprehensive molecular portraits of human breast tumours". Nature. Nature Publishing Group. 490 (7418): 61–70. PMC 3465532 . PMID 23000897. doi:10.1038/nature11412. 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. PMC 1050310 . PMID 7783162. doi:10.1136/jmg.32.3.162.
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. PMID 8673085. doi:10.1038/ng0596-105.
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. PMID 8673086. doi:10.1038/ng0596-109.
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. PMID 8824884. doi:10.1093/hmg/5.2.275.
Gécz J, Oostra BA, Hockey A, et al. (1997). "FMR2 expression in families with FRAXE mental retardation.". Hum. Mol. Genet. 6 (3): 435–41. PMID 9147647. doi:10.1093/hmg/6.3.435.
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. PMID 9299237. doi:10.1006/geno.1997.4867.
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. PMID 9467002. doi:10.1093/hmg/7.3.441.
Gecz J, Mulley JC (1999). "Characterisation and expression of a large, 13.7 kb FMR2 isoform.". Eur. J. Hum. Genet. 7 (2): 157–62. PMID 10196698. doi:10.1038/sj.ejhg.5200279.
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. PMC 1734234 . PMID 10528856. doi:10.1136/jmg.36.10.767.
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. PMC 16267 . PMID 10737800. doi:10.1073/pnas.97.7.3491.
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. PMID 10780779. doi:10.1038/sj.ejhg.5200425.
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. PMID 10850542. doi:10.1097/00019606-200006000-00002.
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. PMID 10964075. doi:10.1016/S1388-2457(00)00367-9.
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. PMID 11355014. doi:10.1007/s100380170074.
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. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899.
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. PMID 12777533. doi:10.1093/molbev/msg134.
Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome.". Nature. 434 (7031): 325–37. PMC 2665286 . PMID 15772651. doi:10.1038/nature03440.
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. PMC 1934615 . PMID 17196195. doi:10.1016/j.yexmp.2006.10.004.

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