Property Summary

NCBI Gene PubMed Count 39
PubMed Score 292.57
PubTator Score 71.67

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
posterior fossa group A ependymoma -2.100 2.3e-13
glioblastoma -1.500 3.2e-05
atypical teratoid/rhabdoid tumor -1.500 4.3e-06
adult high grade glioma -1.700 1.1e-04
group 3 medulloblastoma 1.200 7.8e-03
pilocytic astrocytoma -1.600 1.4e-06
subependymal giant cell astrocytoma -2.083 1.9e-02
ovarian cancer 1.200 2.4e-10
pituitary cancer -2.600 4.4e-11
psoriasis -1.500 1.7e-38

Gene RIF (10)

PMID Text
25256661 Partial AFF2 microduplication in a patient with auditory processing disorder, emotional impairment and macrosomia.
23562910 FMR2 is an upstream regulator of FOS and JUN, and further link deregulation of the immediate early response genes to the pathology of ID- and FRAXE-associated ID in particular.
22773736 2.5% of males Autism spectrum disorder patients had missense mutations in AFF2 at highly conserved evolutionary sites.
22065534 A report of novel deletions involving AFF2 provide evidence for a new mutational spectrum, microdeletions, that are responsible for Fragile X E in a small subset of patients.
21330300 overexpression of AFF2/3/4 interferes with the organization and/or biogenesis of nuclear speckles.
21254876 CGG/GCC repeat polymorphism at the FMR1 and FMR2 loci observed in this study demonstrated a racial and ethnic variation among the populations in India.
20734064 Observational study of gene-disease association. (HuGE Navigator)
19460752 Knockdown of AF4/FMR2 family, member 2 (AFF2) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells
17196195 FMR1 transcripts were detected in foreskin and male fetal lung fibroblasts, while FMR2 transcripts were not. However, both FMR1 and FMR2 were found to replicate late in S phase (approximately 6 h into the S phase of normal human fibroblasts).
11119302 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)

AA Sequence

MDLFDFFRDWDLEQQCHYEQDRSALKKREWERRNQEVQQEDDLFSSGFDLFGEPYKVAEYTNKGDALANR      1 - 70
VQNTLGNYDEMKNLLTNHSNQNHLVGIPKNSVPQNPNNKNEPSFFPEQKNRIIPPHQDNTHPSAPMPPPS     71 - 140
VVILNSTLIHSNRKSKPEWSRDSHNPSTVLASQASGQPNKMQTLTQDQSQAKLEDFFVYPAEQPQIGEVE    141 - 210
ESNPSAKEDSNPNSSGEDAFKEIFQSNSPEESEFAVQAPGSPLVASSLLAPSSGLSVQNFPPGLYCKTSM    211 - 280
GQQKPTAYVRPMDGQDQAPDISPTLKPSIEFENSFGNLSFGTLLDGKPSAASSKTKLPKFTILQTSEVSL    281 - 350
PSDPSCVEEILREMTHSWPTPLTSMHTAGHSEQSTFSIPGQESQHLTPGFTLQKWNDPTTRASTKSVSFK    351 - 420
SMLEDDLKLSSDEDDLEPVKTLTTQCTATELYQAVEKAKPRNNPVNPPLATPQPPPAVQASGGSGSSSES    421 - 490
ESSSESDSDTESSTTDSESNEAPRVATPEPEPPSTNKWQLDKWLNKVTSQNKSFICGQNETPMETISLPP    491 - 560
PIIQPMEVQMKVKTNASQVPAEPKERPLLSLIREKARPRPTQKIPETKALKHKLSTTSETVSQRTIGKKQ    561 - 630
PKKVEKNTSTDEFTWPKPNITSSTPKEKESVELHDPPRGRNKATAHKPAPRKEPRPNIPLAPEKKKYRGP    631 - 700
GKIVPKSREFIETDSSTSDSNTDQEETLQIKVLPPCIISGGNTAKSKEICGASLTLSTLMSSSGSNNNLS    701 - 770
ISNEEPTFSPIPVMQTEILSPLRDHENLKNLWVKIDLDLLSRVPGHSSLHAAPAKPDHKETATKPKRQTA    771 - 840
VTAVEKPAPKGKRKHKPIEVAEKIPEKKQRLEEATTICLLPPCISPAPPHKPPNTRENNSSRRANRRKEE    841 - 910
KLFPPPLSPLPEDPPRRRNVSGNNGPFGQDKNIAMTGQITSTKPKRTEGKFCATFKGISVNEGDTPKKAS    911 - 980
SATITVTNTAIATATVTATAIVTTTVTATATATATTTTTTTTISTITSTITTGLMDSSHLEMTSWAALPL    981 - 1050
LSSSSTNVRRPKLTFDDSVHNADYYMQEAKKLKHKADALFEKFGKAVNYADAALSFTECGNAMERDPLEA   1051 - 1120
KSPYTMYSETVELLRYAMRLKNFASPLASDGDKKLAVLCYRCLSLLYLRMFKLKKDHAMKYSRSLMEYFK   1121 - 1190
QNASKVAQIPSPWVSNGKNTPSPVSLNNVSPINAMGNCNNGPVTIPQRIHHMAASHVNITSNVLRGYEHW   1191 - 1260
DMADKLTRENKEFFGDLDTLMGPLTQHSSMTNLVRYVRQGLCWLRIDAHLL                      1261 - 1311
//

Text Mined References (43)

PMID Year Title
26002199 2015 The Repeat Expansion Diseases: The dark side of DNA repair.
25256661 2014 Partial AFF2 microduplication in a patient with auditory processing disorder, emotional impairment and macrosomia.
23562910 2013 Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disability.
22773736 2012 Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder.
22065534 2011 Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay.
21739600 2011 Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion.
21330300 2011 Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability.
21254876 2011 Distribution of CGG/GCC repeats at the FMR1 and FMR2 genes in an Indian population with mental retardation of unknown etiology.
20734064 2010 A large-scale candidate gene association study of age at menarche and age at natural menopause.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19136466 2009 FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17474147 2007 Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening.
17196195 2007 Mapping of an origin of DNA replication in the promoter of fragile X gene FMR1.
15772651 2005 The DNA sequence of the human X chromosome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12777533 2003 Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11355014 2001 Fragile XE-associated familial mental retardation protein 2 (FMR2) acts as a potent transcription activator.
11119302 2001 Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population.
10964075 2000 Does a peculiar EEG pattern exist also for FRAXE mental retardation?
10850542 2000 Implication of screening for FMR1 and FMR2 gene mutation in individuals with nonspecific mental retardation in Taiwan.
10780779 2000 FRAXE mutation in a mentally retarded subject and in his phenotypically normal twin brother.
10737800 2000 Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.
10528856 1999 Microdeletions in FMR2 may be a significant cause of premature ovarian failure.
10196698 Characterisation and expression of a large, 13.7 kb FMR2 isoform.
9475603 1998 Molecular characterization of FRAXE-positive subjects with mental impairement in two unrelated Italian families.
9467002 1998 Expression of the murine homologue of FMR2 in mouse brain and during development.
9341861 1997 Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation.
9299237 1997 Gene structure and subcellular localization of FMR2, a member of a new family of putative transcription activators.
9147647 1997 FMR2 expression in families with FRAXE mental retardation.
9032643 1997 Clinical, cytogenetic, and molecular analysis of three families with FRAXE.
8900249 1996 FRAXE testing.
8824884 1996 A candidate gene for mild mental handicap at the FRAXE fragile site.
8673086 1996 Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island.
8673085 1996 Identification of the gene FMR2, associated with FRAXE mental retardation.
8651274 1996 A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United Kingdom.
8334699 1993 Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.
8023854 1994 Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap.
7783162 1995 FRAXE and mental retardation.
7541938 1995 FRAXE expansion is not a common etiological factor among developmentally delayed males.
1301146 1992 Characterisation of a new rare fragile site easily confused with the fragile X.