AFF2

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AF4/FMR2 family, member 2
Identifiers
Symbol(s) AFF2; FMR2; FRAXE; MRX2; OX19
External IDs OMIM: 309548 MGI1202294 Homologene1532
RNA expression pattern

PBB GE AFF2 206105 at tn.png

PBB GE AFF2 210957 s at tn.png

PBB GE AFF2 216364 s at tn.png

More reference expression data

Orthologs
Human Mouse
Entrez 2334 14266
Ensembl ENSG00000155966 ENSMUSG00000031189
Uniprot P51816 Q684J4
Refseq NM_002025 (mRNA)
NP_002016 (protein)
NM_008032 (mRNA)
NP_032058 (protein)
Location Chr X: 147.39 - 147.89 Mb Chr X: 65.62 - 66.13 Mb
Pubmed search [1] [2]

AF4/FMR2 family, member 2, also known as AFF2, is a human gene.[1]



References

Further reading

  • Mulley JC, Yu S, Loesch DZ, et al. (1995). "FRAXE and mental retardation.". J. Med. Genet. 32 (3): 162-9. 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. 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. 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. 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. 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. 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. PMID 10850542.
  • Musumeci SA, Scuderi C, Ferri R, et al. (2000). "Does a peculiar EEG pattern exist also for FRAXE mental retardation?". Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 111 (9): 1632-6. 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. 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. 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. 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. PMID 17196195.

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