AFF2: Difference between revisions

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{{Infobox_gene}}
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'''AF4/FMR2 family member 2''' is a [[protein]] that in humans is encoded by the ''AFF2'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: AFF2 AF4/FMR2 family, member 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2334| accessdate = }}</ref> Mutations in ''AFF2'' are implicated in cases of [[breast cancer]].<ref name=nature11412>{{cite journal |author=The Cancer Genome Atlas Network |year=2012 |title=Comprehensive molecular portraits of human breast tumours |journal=Nature |volume= 490|issue= 7418|pages= 61–70|publisher=Nature Publishing Group |doi=10.1038/nature11412 |url=http://www.nature.com/nature/journal/vaop/ncurrent/full/nature11412.html |accessdate=24 September 2012 |pmid=23000897 |pmc=3465532}}</ref>
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{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = AF4/FMR2 family, member 2
| HGNCid = 3776
| Symbol = AFF2
| AltSymbols =; FMR2; FRAXE; MRX2; OX19
| OMIM = 309548
| ECnumber = 
| Homologene = 1532
| MGIid = 1202294
| GeneAtlas_image1 = PBB_GE_AFF2_206105_at_tn.png
| GeneAtlas_image2 = PBB_GE_AFF2_210957_s_at_tn.png
| GeneAtlas_image3 = PBB_GE_AFF2_216364_s_at_tn.png
| Function =
| Component =
| Process = {{GNF_GO|id=GO:0007420 |text = brain development}} {{GNF_GO|id=GO:0007611 |text = learning and/or memory}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 2334
    | Hs_Ensembl = ENSG00000155966
    | Hs_RefseqProtein = NP_002016
    | Hs_RefseqmRNA = NM_002025
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = X
    | Hs_GenLoc_start = 147389831
    | Hs_GenLoc_end = 147889899
    | Hs_Uniprot = P51816
    | Mm_EntrezGene = 14266
    | Mm_Ensembl = ENSMUSG00000031189
    | Mm_RefseqmRNA = NM_008032
    | Mm_RefseqProtein = NP_032058
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = X
    | Mm_GenLoc_start = 65620996
    | Mm_GenLoc_end = 66128702
    | Mm_Uniprot = Q684J4
  }}
}}
'''AF4/FMR2 family, member 2''', also known as '''AFF2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: AFF2 AF4/FMR2 family, member 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2334| accessdate = }}</ref>
 
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==References==
==References==
{{reflist|2}}
{{reflist}}
 
==External links==
* {{UCSC gene info|AFF2}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Mulley JC, Yu S, Loesch DZ, ''et al.'' |title=FRAXE and mental retardation. |journal=J. Med. Genet. |volume=32 |issue= 3 |pages= 162-9 |year= 1995 |pmid= 7783162 |doi=  }}
*{{cite journal  | vauthors=Mulley JC, Yu S, Loesch DZ |title=FRAXE and mental retardation. |journal=J. Med. Genet. |volume=32 |issue= 3 |pages= 162–9 |year= 1995 |pmid= 7783162 |doi=  10.1136/jmg.32.3.162| pmc=1050310  |display-authors=etal}}
*{{cite journal  | author=Gecz J, Gedeon AK, Sutherland GR, Mulley JC |title=Identification of the gene FMR2, associated with FRAXE mental retardation. |journal=Nat. Genet. |volume=13 |issue= 1 |pages= 105-8 |year= 1996 |pmid= 8673085 |doi= 10.1038/ng0596-105 }}
*{{cite journal  | vauthors=Gecz J, Gedeon AK, Sutherland GR, Mulley JC |title=Identification of the gene FMR2, associated with FRAXE mental retardation. |journal=Nat. Genet. |volume=13 |issue= 1 |pages= 105–8 |year= 1996 |pmid= 8673085 |doi= 10.1038/ng0596-105 }}
*{{cite journal  | author=Gu Y, Shen Y, Gibbs RA, Nelson DL |title=Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. |journal=Nat. Genet. |volume=13 |issue= 1 |pages= 109-13 |year= 1996 |pmid= 8673086 |doi= 10.1038/ng0596-109 }}
*{{cite journal  | vauthors=Gu Y, Shen Y, Gibbs RA, Nelson DL |title=Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. |journal=Nat. Genet. |volume=13 |issue= 1 |pages= 109–13 |year= 1996 |pmid= 8673086 |doi= 10.1038/ng0596-109 }}
*{{cite journal  | author=Chakrabarti L, Knight SJ, Flannery AV, Davies KE |title=A candidate gene for mild mental handicap at the FRAXE fragile site. |journal=Hum. Mol. Genet. |volume=5 |issue= 2 |pages= 275-82 |year= 1996 |pmid= 8824884 |doi=  }}
*{{cite journal  | vauthors=Chakrabarti L, Knight SJ, Flannery AV, Davies KE |title=A candidate gene for mild mental handicap at the FRAXE fragile site. |journal=Hum. Mol. Genet. |volume=5 |issue= 2 |pages= 275–82 |year= 1996 |pmid= 8824884 |doi=10.1093/hmg/5.2.275 }}
*{{cite journal  | author=Gécz J, Oostra BA, Hockey A, ''et al.'' |title=FMR2 expression in families with FRAXE mental retardation. |journal=Hum. Mol. Genet. |volume=6 |issue= 3 |pages= 435-41 |year= 1997 |pmid= 9147647 |doi=  }}
*{{cite journal  | vauthors=Gécz J, Oostra BA, Hockey A |title=FMR2 expression in families with FRAXE mental retardation. |journal=Hum. Mol. Genet. |volume=6 |issue= 3 |pages= 435–41 |year= 1997 |pmid= 9147647 |doi=10.1093/hmg/6.3.435 |display-authors=etal}}
*{{cite journal  | author=Gecz J, Bielby S, Sutherland GR, Mulley JC |title=Gene structure and subcellular localization of FMR2, a member of a new family of putative transcription activators. |journal=Genomics |volume=44 |issue= 2 |pages= 201-13 |year= 1997 |pmid= 9299237 |doi= 10.1006/geno.1997.4867 }}
*{{cite journal  | vauthors=Gecz J, Bielby S, Sutherland GR, Mulley JC |title=Gene structure and subcellular localization of FMR2, a member of a new family of putative transcription activators. |journal=Genomics |volume=44 |issue= 2 |pages= 201–13 |year= 1997 |pmid= 9299237 |doi= 10.1006/geno.1997.4867 }}
*{{cite journal  | author=Chakrabarti L, Bristulf J, Foss GS, Davies KE |title=Expression of the murine homologue of FMR2 in mouse brain and during development. |journal=Hum. Mol. Genet. |volume=7 |issue= 3 |pages= 441-8 |year= 1998 |pmid= 9467002 |doi=  }}
*{{cite journal  | vauthors=Chakrabarti L, Bristulf J, Foss GS, Davies KE |title=Expression of the murine homologue of FMR2 in mouse brain and during development. |journal=Hum. Mol. Genet. |volume=7 |issue= 3 |pages= 441–8 |year= 1998 |pmid= 9467002 |doi=10.1093/hmg/7.3.441 }}
*{{cite journal  | author=Gecz J, Mulley JC |title=Characterisation and expression of a large, 13.7 kb FMR2 isoform. |journal=Eur. J. Hum. Genet. |volume=7 |issue= 2 |pages= 157-62 |year= 1999 |pmid= 10196698 |doi= 10.1038/sj.ejhg.5200279 }}
*{{cite journal  | vauthors=Gecz J, Mulley JC |title=Characterisation and expression of a large, 13.7 kb FMR2 isoform. |journal=Eur. J. Hum. Genet. |volume=7 |issue= 2 |pages= 157–62 |year= 1999 |pmid= 10196698 |doi= 10.1038/sj.ejhg.5200279 }}
*{{cite journal  | author=Murray A, Webb J, Dennis N, ''et al.'' |title=Microdeletions in FMR2 may be a significant cause of premature ovarian failure. |journal=J. Med. Genet. |volume=36 |issue= 10 |pages= 767-70 |year= 1999 |pmid= 10528856 |doi=  }}
*{{cite journal  | vauthors=Murray A, Webb J, Dennis N |title=Microdeletions in FMR2 may be a significant cause of premature ovarian failure. |journal=J. Med. Genet. |volume=36 |issue= 10 |pages= 767–70 |year= 1999 |pmid= 10528856 |doi= 10.1136/jmg.36.10.767 | pmc=1734234  |display-authors=etal}}
*{{cite journal  | author=Dias Neto E, Correa RG, Verjovski-Almeida S, ''et al.'' |title=Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 7 |pages= 3491-6 |year= 2000 |pmid= 10737800 |doi=  }}
*{{cite journal  | vauthors=Dias Neto E, Correa RG, Verjovski-Almeida S |title=Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 7 |pages= 3491–6 |year= 2000 |pmid= 10737800 |doi=  10.1073/pnas.97.7.3491| pmc=16267  |display-authors=etal}}
*{{cite journal  | author=Lo Nigro C, Faravelli F, Cavani S, ''et al.'' |title=FRAXE mutation in a mentally retarded subject and in his phenotypically normal twin brother. |journal=Eur. J. Hum. Genet. |volume=8 |issue= 3 |pages= 157-62 |year= 2000 |pmid= 10780779 |doi= 10.1038/sj.ejhg.5200425 }}
*{{cite journal  | vauthors=Lo Nigro C, Faravelli F, Cavani S |title=FRAXE mutation in a mentally retarded subject and in his phenotypically normal twin brother. |journal=Eur. J. Hum. Genet. |volume=8 |issue= 3 |pages= 157–62 |year= 2000 |pmid= 10780779 |doi= 10.1038/sj.ejhg.5200425 |display-authors=etal}}
*{{cite journal  | author=Tzeng CC, Tzeng PY, Sun HS, ''et al.'' |title=Implication of screening for FMR1 and FMR2 gene mutation in individuals with nonspecific mental retardation in Taiwan. |journal=Diagn. Mol. Pathol. |volume=9 |issue= 2 |pages= 75-80 |year= 2000 |pmid= 10850542 |doi=  }}
*{{cite journal  | vauthors=Tzeng CC, Tzeng PY, Sun HS |title=Implication of screening for FMR1 and FMR2 gene mutation in individuals with nonspecific mental retardation in Taiwan. |journal=Diagn. Mol. Pathol. |volume=9 |issue= 2 |pages= 75–80 |year= 2000 |pmid= 10850542 |doi=10.1097/00019606-200006000-00002 |display-authors=etal}}
*{{cite journal  | author=Musumeci SA, Scuderi C, Ferri R, ''et al.'' |title=Does a peculiar EEG pattern exist also for FRAXE mental retardation? |journal=Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology |volume=111 |issue= 9 |pages= 1632-6 |year= 2000 |pmid= 10964075 |doi=  }}
*{{cite journal  | vauthors=Musumeci SA, Scuderi C, Ferri R |title=Does a peculiar EEG pattern exist also for FRAXE mental retardation? |journal=Clinical Neurophysiology |volume=111 |issue= 9 |pages= 1632–6 |year= 2000 |pmid= 10964075 |doi=10.1016/S1388-2457(00)00367-9 |display-authors=etal}}
*{{cite journal  | author=Hillman MA, Gecz J |title=Fragile XE-associated familial mental retardation protein 2 (FMR2) acts as a potent transcription activator. |journal=J. Hum. Genet. |volume=46 |issue= 5 |pages= 251-9 |year= 2001 |pmid= 11355014 |doi=  }}
*{{cite journal  | vauthors=Hillman MA, Gecz J |title=Fragile XE-associated familial mental retardation protein 2 (FMR2) acts as a potent transcription activator. |journal=J. Hum. Genet. |volume=46 |issue= 5 |pages= 251–9 |year= 2001 |pmid= 11355014 |doi=10.1007/s100380170074 }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
*{{cite journal  | author=Kitano T, Schwarz C, Nickel B, Pääbo S |title=Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees. |journal=Mol. Biol. Evol. |volume=20 |issue= 8 |pages= 1281-9 |year= 2004 |pmid= 12777533 |doi= 10.1093/molbev/msg134 }}
*{{cite journal  | vauthors=Kitano T, Schwarz C, Nickel B, Pääbo S |title=Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees. |journal=Mol. Biol. Evol. |volume=20 |issue= 8 |pages= 1281–9 |year= 2004 |pmid= 12777533 |doi= 10.1093/molbev/msg134 }}
*{{cite journal  | author=Ross MT, Grafham DV, Coffey AJ, ''et al.'' |title=The DNA sequence of the human X chromosome. |journal=Nature |volume=434 |issue= 7031 |pages= 325-37 |year= 2005 |pmid= 15772651 |doi= 10.1038/nature03440 }}
*{{cite journal  | vauthors=Ross MT, Grafham DV, Coffey AJ |title=The DNA sequence of the human X chromosome. |journal=Nature |volume=434 |issue= 7031 |pages= 325–37 |year= 2005 |pmid= 15772651 |doi= 10.1038/nature03440 | pmc=2665286 |display-authors=etal}}
*{{cite journal  | author=Brylawski BP, Chastain PD, Cohen SM, ''et al.'' |title=Mapping of an origin of DNA replication in the promoter of fragile X gene FMR1. |journal=Exp. Mol. Pathol. |volume=82 |issue= 2 |pages= 190-6 |year= 2007 |pmid= 17196195 |doi= 10.1016/j.yexmp.2006.10.004 }}
*{{cite journal  | vauthors=Brylawski BP, Chastain PD, Cohen SM |title=Mapping of an origin of DNA replication in the promoter of fragile X gene FMR1. |journal=Exp. Mol. Pathol. |volume=82 |issue= 2 |pages= 190–6 |year= 2007 |pmid= 17196195 |doi= 10.1016/j.yexmp.2006.10.004 | pmc=1934615 |display-authors=etal}}
}}
}}
{{refend}}
{{refend}}


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Latest revision as of 17:52, 29 August 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

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Ensembl

n/a

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UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

AF4/FMR2 family member 2 is a protein that in humans is encoded by the AFF2 gene.[1] Mutations in AFF2 are implicated in cases of breast cancer.[2]


References

  1. ↑ "Entrez Gene: AFF2 AF4/FMR2 family, member 2".
  2. ↑ 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

Further reading



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